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Sample records for watanabe heritable hyperlipidemic

  1. Effects of red grape skin and seed extract supplementation on atherosclerosis in Watanabe heritable hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Frederiksen, Hanne; Mortensen, Alicja; Schrøder, Malene;

    2007-01-01

    Epidemiological studies have suggested an association between consumption of red wine and other polyphenolic compounds and prevention of cardiovascular diseases. In the present study, Watanabe heritable hyperlipidemic (WHHL) rabbits were used to investigate the effects of polyphenols in a red gra...

  2. Absorption and excretion of black currant anthocyanins in human and Watanabe Heritable Hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Nielsen, I. L.. F.; Ravn-Haren, Gitte; Dragsted, L. O.;

    2003-01-01

    Anthocyanins are thought to protect against cardiovascular diseases. Watanabe heritable hyperlipidemic (WHHL) rabbits are hypercholesterolemic and used as a model of the development of atherosclerosis. To compare the uptake and excretion of anthocyanins in humans and WHHL rabbits, single-dose black...... currant anthocyanin studies were performed. Procedures for workup and analyses of urine and plasma samples containing anthocyanins were developed with high recoveries (99 and 81%, respectively) and low limits of quantification (greater than or equal to 6.6 and greater than or equal to 1.1 nM, respectively......). The excretion and absorption of anthocyanins from black currant juice were found to be within the same order of magnitude in the two species regarding urinary excretion within the first 4 h (rabbits, 0.035%; humans, 0.072%) and t(ma)x (rabbits, similar to30 min; humans, similar to45 min). A food matrix effect...

  3. Pentosan polysulfate inhibits atherosclerosis in Watanabe heritable hyperlipidemic rabbits: differential modulation of metalloproteinase-2 and -9.

    Science.gov (United States)

    Lupia, Enrico; Zheng, Feng; Grosjean, Fabrizio; Tack, Ivan; Doublier, Sophie; Elliot, Sharon J; Vlassara, Helen; Striker, Gary E

    2012-02-01

    Pentosan polysulfate (PPS), a heparinoid compound essentially devoid of anticoagulant activity, modulates cell growth and decreases inflammation. We investigated the effect of PPS on the progression of established atherosclerosis in Watanabe heritable hyperlipidemic (WHHL) rabbits. After severe atherosclerosis developed on an atherogenic diet, WHHL rabbits were treated with oral PPS or tap water for 1 month. The aortic intima-to-media ratio and macrophage infiltration were reduced, plaque collagen content was increased, and plaque fibrous caps were preserved by PPS treatment. Plasma lipid levels and post-heparin hepatic lipase activity remained unchanged. However, net collagenolytic activity in aortic extracts was decreased, and the levels of matrix metalloproteinase (MMP)-2 and tissue inhibitor of metalloproteinase (TIMP) activity were increased by PPS. Moreover, PPS treatment decreased tumor necrosis factor α (TNFα)-stimulated proinflammatory responses, in particular activation of nuclear factor-κB and p38, and activation of MMPs in macrophages. In conclusion, oral PPS treatment prevents progression of established atherosclerosis in WHHL rabbits. This effect may be partially mediated by increased MMP-2 and TIMP activities in the aortic wall and reduced TNFα-stimulated inflammation and MMP activation in macrophages. Thus, PPS may be a useful agent in inhibiting the progression of atherosclerosis.

  4. Adenosine-induced coronary flow reserve in Watanabe heritable hyperlipidemic rabbits

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    Shimada, Kazuhiro; Yoshida, Katsuya [Chiba Univ. (Japan). School of Medicine; Tadokoro, Hiroyuki [and others

    2000-12-01

    The Watanabe heritable hyperlipidemic (WHHL) rabbit develops coronary atherosclerosis and hypercholesterolemia because of a genetic deficiency of low-density lipoprotein receptors and is therefore a good animal model for studying the relationships of coronary atherosclerosis, hypercholesterolemia and coronary flow reserve. The aim of the present study was to assess myocardial perfusion at baseline and during adenosine infusion (0.2 mg{center_dot}kg{sup -1}{center_dot}min{sup -1}) in 8 WHHL rabbits (13.8{+-}0.5 months) with {sup 13}N-ammonia, small-animal positron emission tomography (PET) and colored microspheres. Results were compared with those from 6 age-matched Japanese white rabbits. Plaque distribution was also examined in the extramural coronary arteries. All 8 WHHL rabbits had coronary plaques, with 6 showing multiple plaques. Mean global myocardial blood flow (ml{center_dot}min{sup -1}{center_dot}g{sup -1}) did not differ significantly between control and WHHL groups both at baseline (3.67{+-}0.72 vs 4.26{+-}1.12 ml{center_dot}min{sup -1}{center_dot}g{sup -1}, p=NS) and with adenosine (7.92{+-}2.00 vs 9.27{+-}2.91 ml{center_dot}min{sup -1}{center_dot}g{sup -1}, p=NS), nor did coronary flow reserve (2.16{+-}0.37 vs 2.18{+-}0.41, p=NS). None showed evidence of regional perfusion abnormalities by visual and semiquantitative analyses of PET images. It was concluded that WHHL rabbits preserve adenosine-induced coronary flow reserve despite coronary atherosclerosis and hypercholesterolemia, suggesting that a compensatory mechanism develops in this animal model. (author)

  5. Dietary supplementation with an extract of lycopene-rich tomatoes does not reduce atherosclerosis in Watanabe Heritable Hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Frederiksen, H.; Rasmussen, S.E.; Schrøder, Malene;

    2007-01-01

    Tomatoes are rich in lycopene and other carotenoids which have shown beneficial effects on CVD in epidemiological and intervention studies. In the present study the effect of an extract of lycopene-rich tomatoes, Lyc-O-Mato (R) on atherosclerosis was studied in Watanabe Heritable Hyperlipidemic...... rabbits. The rabbits were fed a control diet, a control diet supplemented with the tomato extract or a control diet supplemented with a mixture of plant oils for 16 weeks. Lycopene was detected only in plasma of rabbits receiving tomato extract. The tomato extract had no effect on cholesterol...... and triacylglycerol levels measured in total plasma, lipoprotein fractions and on aortic atherosclerosis evaluated biochemically and by microscopy. Oxidation of lipids in unfractionated plasma also was unaffected by the intake of tomato extract. In conclusion, the tomato extract increased plasma levels of lycopene...

  6. Probucol selectively increases oxidation of atherogenic lipoproteins in cholesterol-fed mice and in Watanabe heritable hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Lauridsen, S.T.; Mortensen, Alicja

    1999-01-01

    The anti-atherogenic and cholesterol-lowering drug probucol (0.5-1%) or quercetin (1%), a natural antioxidant, was given to cholesterol-fed (1.5%) mice for a period of 6 weeks and to Watanabe heritable hyperlipidemic (WHHL) rabbits for a period of 8 weeks to investigate the oxidative changes...... in plasma and lipoproteins. Oxidation was measured as the total amount of malondialdehyde (nmol MDA/g protein) by a very specific MDA-HPLC method. A large and significant increase in MDA was seen in LDL from probucol treated WHHL rabbits (1778.7 +/- 585.5 nmol/g vs. 394.4 +/- 144.5 nmol/g, P ....001) and cholesterol-fed mice (579.7 +/- 47.3 nmol/g vs. 408.1 +/- 85.8 nmol/g, P rabbits: P rabbits VLDL oxidation was determined additionally, and also revealed a large increase in the probucol group (2102...

  7. Anthocyanins increase low-density lipoprotein and plasma cholesterol and do not reduce atherosclerosis in Watanabe Heritable Hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Nielsen, I. L. F.; Rasmussen, S.E.; Mortensen, Alicja;

    2005-01-01

    Anthocyanin-rich beverages have shown beneficial effects on coronary heart disease in epidemiological and intervention studies. In the present study, we investigated the effect of black currant anthocyanins on atherosclerosis. Watanabe Heritable Hyperlipidemic rabbits (n = 61) were fed either...... a purified anthocyanin fraction front black currants, a black currant juice, probucol or control diet for 16 weeks. Purified anthocyanins significantly increased plasma cholesterol and low-density lipoprotein (LDL) cholesterol. Intake of black currant juice had no effect on total plasma cholesterol......, but lowered very-low-density lipoprotein (VLDL) cholesterol significantly. There were no significant effects of either purified anthocyanins or black currant juice on aortic cholesterol or development of atherosclerosis after 16 weeks. Probucol had no effect on plasma cholesterol but significantly lowered...

  8. New animal model for the study of postmenopausal coronary and cerebral artery function: the Watanabe heritable hyperlipidemic rabbit fed on a diet avoiding phytoestrogens

    DEFF Research Database (Denmark)

    Dalsgaard, T; Larsen, C R; Mortensen, A

    2002-01-01

    to treatment for 16 weeks with either 17 beta-estradiol or placebo. The chow used was semi-synthetic, thereby avoiding the influence of phytoestrogens. Ring segments of cerebral and coronary arteries were mounted for isometric tension recordings in myographs. The passive and active length-tension relationships...... in the proximal coronary arteries. No changes were observed for the passive length-tension relationships. CONCLUSIONS: Long-term treatment with 17 beta-estradiol lowered the electromechanical tonus of atherosclerotic coronary arteries proximally, where the atherosclerosis is most developed. This could be one......OBJECTIVE: To evaluate the effect of estrogen replacement therapy (ERT) on the functional characteristics of coronary and cerebral arteries in a new rabbit model for postmenopausal vascular function. METHODS: Female ovariectomized Watanabe heritable hyperlipidemic (WHHL) rabbits were randomized...

  9. Estrogen and phytoestrogens: Effect on eNOS expression and in vitro vasodilation in cerebral arteries in ovariectomized Watanabe heritable hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Lund, Claus Otto; Mortensen, A; Nilas, Lisbeth

    2007-01-01

    -six female ovariectomized Watanabe heritable hyperlipidemic (WHHL) rabbits were randomised to treatment with 17beta-estradiol (17beta-E(2)), SoyLife 150 or control for 16 weeks. Ring segments of basilar artery (BA) and posterior cerebral artery (PCA) were mounted in myographs for isometric tension recordings......OBJECTIVES: To evaluate the effect of estrogen replacement therapy or soy isoflavones supplement on endothelium-dependent relaxation in vitro and gene expression of endothelial nitric oxide synthase (eNOS) in cerebral arteries in a rabbit model of human hypercholesterolemia. STUDY DESIGN: Thirty...... in any of the arteries. Correspondingly, eNOS mRNA was similarly expressed in all treatment groups in both arteries. CONCLUSIONS: Improvement of cerebral endothelial function by estrogen or soy isoflavones in ovariectomized WHHL rabbits is not supported by the present data. The findings may be unique...

  10. Estrogen and phytoestrogens: Effect on eNOS expression and in vitro vasodilation in cerebral arteries in ovariectomized Watanabe heritable hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Lund, Claus O.; Mortensen, Alicja; Nilas, Lisbeth

    2007-01-01

    -six female ovariectomized Watanabe heritable hyperlipidemic (WHHL) rabbits were randomised to treatment with 17 beta-estradiol (17 beta-E-2), SoyLife 150(R) or control for 16 weeks. Ring segments of basilar artery (BA) and posterior cerebral artery (PCA) were mounted in myographs for isometric tension......Objectives: To evaluate the effect of estrogen replacement therapy or soy isoflavones supplement on endothelium-dependent relaxation in vitro and gene expression of endothelial nitric oxide synthase (eNOS) in cerebral arteries in a rabbit model of human hypercholesterolemia. Study design: Thirty......-independent response to SNP in any of the arteries. Correspondingly, eNOS mRNA was similarly expressed in all treatment groups in both arteries. Conclusions: Improvement of cerebral endothelial function by estrogen or soy isoflavones in ovariectomized WHHL rabbits is not supported by the present data. The findings may...

  11. Estrogen and phytoestrogens: Effect on eNOS expression and in vitro vasodilation in cerebral arteries in ovariectomized Watanabe heritable hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Lund, Claus Otto; Mortensen, A; Nilas, Lisbeth

    2007-01-01

    OBJECTIVES: To evaluate the effect of estrogen replacement therapy or soy isoflavones supplement on endothelium-dependent relaxation in vitro and gene expression of endothelial nitric oxide synthase (eNOS) in cerebral arteries in a rabbit model of human hypercholesterolemia. STUDY DESIGN: Thirty......-six female ovariectomized Watanabe heritable hyperlipidemic (WHHL) rabbits were randomised to treatment with 17beta-estradiol (17beta-E(2)), SoyLife 150 or control for 16 weeks. Ring segments of basilar artery (BA) and posterior cerebral artery (PCA) were mounted in myographs for isometric tension recordings...... in any of the arteries. Correspondingly, eNOS mRNA was similarly expressed in all treatment groups in both arteries. CONCLUSIONS: Improvement of cerebral endothelial function by estrogen or soy isoflavones in ovariectomized WHHL rabbits is not supported by the present data. The findings may be unique...

  12. Effect of rapeseed oil derived plant sterol and stanol esters on atherosclerosis parameters in cholesterol challenged heterozygous Watanabe Heritable Hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Schrøder, Malene; Fricke, Christiane; Pilegaard, Kirsten

    2009-01-01

    Rapeseed oil (RSO) is a novel source of plant sterols, containing the unique brassicasterol in concentrations higher than allowed for plant sterol blends in food products in the European Union. Effects of RSO sterols and stanols on aortic atherosclerosis were studied in cholesterol-fed heterozygous...... Watanabe heritable hyperlipidaemic (Hh-WHHL) rabbits. Four groups (n 18 per group) received a cholesterol-added (2 g/kg) standard chow or this diet with added RSO stanol esters (17 g/kg), RSO stanol esters (34 g/kg) or RSO sterol esters (34 g/kg) for 18 weeks. Feeding RSO stanol esters increased plasma...... campestanol (P sterol esters increased concentrations of plasma campesterol (P

  13. (-)-anipamil retards atherosclerosis in Watanabe heritable hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Hansen, B F; Mortensen, A; Hansen, J F

    1995-01-01

    Calcium antagonists have been reported to limit atherosclerosis in cholesterol fed rabbits. The purpose of this study was to examine the effect of the calcium antagonist (-)-anipamil on the spontaneous development of atherosclerosis in homozygote WHHL rabbits. From the age of 7 weeks, three groups...... differences were found in serum lipids (i.e., VLDL, IDL, LDL, HDL) in the study period among the three groups. Plasma anipamil at the end of the study was 0.23 +/- 6, and 202 +/- 19 ng/ml, respectively, in the three treatment groups. The degree of atherosclerosis in the abdominal aorta was significantly lower...... (p atherosclerosis in the abdominal aorta in WHHL rabbits....

  14. Medroxyprogesterone acetate attenuates long-term effects of 17beta-estradiol in coronary arteries from hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Pedersen, S. H.; Nielsen, L. B.; Mortensen, A

    2006-01-01

    in coronary arteries. METHODS: Watanabe heritable hyperlipidemic rabbits were treated orally with either E(2) (4 mg/day), medroxyprogesterone acetate (MPA) (10 mg/day), norethindrone acetate (NETA) (2 mg/day), E(2)+MPA, E(2)+NETA, or placebo for 16 weeks (n=10 in each group). Coronary arteries were used for m...

  15. Progestins oppose the effects of estradiol on the endothelin-1 receptor type B in coronary arteries from ovariectomized hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Pedersen, Susan H; Nielsen, Lars B; Mortensen, Alicja

    2008-01-01

    ) system in coronary arteries. DESIGN: Watanabe heritable hyperlipidemic rabbits were treated orally with either E2 (4 mg/d), medroxyprogesterone acetate (MPA) (10 mg/d), norethisterone acetate (NETA) (2 mg/d), E2 + MPA, E2 + NETA, or placebo for 16 weeks (n=10 in each group). Coronary arteries were used...

  16. Medroxyprogesterone acetate attenuates long-term effects of 17 beta-estradiol in coronary arteries from hyperlipidemic rabbits

    DEFF Research Database (Denmark)

    Pedersen, Susan H.; Nielsen, Lars Bo; Mortensen, Alicja

    2006-01-01

    arteries. Methods: Watanabe heritable hyperlipidemic rabbits were treated orally with either E-2 (4 mg/day), medroxyprogesterone acetate (MPA) (10 mg/day), norethindrone acetate (NETA) (2 mg/day), E-2 + MPA, E-2 + NETA, or placebo for 16 weeks (n = 10 in each group). Coronary arteries were used for m...

  17. Comparison of the effects of fish oil and olive oil on blood lipids and aortic atherosclerosis in Watanabe heritable hyperlipidaemic rabbits

    DEFF Research Database (Denmark)

    Mortensen, Alicja; Hansen, Birgit Fischer; Hansen, Jørgen Fischer

    1998-01-01

    To compare the effects of fish oil and olive oil on the development of atherosclerosis in Watanabe heritable hyperlipidaemic (WHHL) rabbits, 6-week-old animals were given a daily dose (1.5 ml/kg body weight) of fish oil (n 10) or olive oil (n 10) by oral administration for 16 weeks. Plasma...... of treatment, and throughout the study thereafter, blood lipids were significantly (P oil group than in the olive-oil group (cholesterol: 17.0 v. 30.3 mmol/l, triacylglycerols 2.97 v. 6.25 mmol/l, at termination). In the fish-oil group cholesterol was significantly lower...... in intermediate-density lipoproteins (2.69 v. 6.76 mmol/l) and VLDL (3.36 v. 11.51 mmol/l). Triacylglycerol levels of intermediate-density lipoproteins and VLDL in the fish-oil group were also significantly lower when compared with the olive-oil group (0.54 v 1.36 mmol/l and 0.92 v. 2.87 mmol/l respectively...

  18. Endobronchial Watanabe Spigot Placement for a Secondary Pneumothorax.

    Science.gov (United States)

    Ueda, Yuichiro; Huang, Cheng-Long; Itotani, Ryo; Fukui, Motonari

    2015-07-01

    Although bevacizumab has several adverse effects, pneumothorax is rare. This is the first case of initial treatment using an Endobronchial Watanabe Spigot (EWS) for pneumothorax after bevacizumab-containing chemotherapy. A 56-year-old woman with recurrent breast cancer was treated with bevacizumab. Pneumothorax occurred 6 days after the last administration of bevacizumab. The pneumothorax failed to resolve after the chest tube drainage. This was because the bronchopleural fistula formed at the site of the subpleural metastatic lesion. Patient was in need of a surgical repair of the bronchopleural fistula, which could not be carried out due to the recent bevacizumab administration. After the insertion of the EWS, the air leak stopped immediately. A lobectomy was successfully performed for the recurrent pneumothorax and for the resection of the metastatic lung lesion; at a most appropriate duration since the chemotherapy. EWS is useful as the initial palliation of pneumothorax after the treatment with medication causing delayed wound healing.

  19. DISKRIMINASI GENDER DALAM NOVEL GINKO KARYA JUNICHI WATANABE

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    Linda Unsriana

    2015-04-01

    Full Text Available Discrimination is an attitude and behavior that violates human rights. Discrimination can also be interpreted as a treatment for individuals differently based on race, religion, or gender. Any harassment, restriction, or exclusion to race, religion, or gender includes discriminatory actions. The theme of discrimination experienced by many women made the writer want to examine it from literature point of view, especially Japanese literature. The problem in this paper is gender discrimination experienced by the main character in novel Ginko. In Ginko novel written by Junichi Watanabe, the theme of discrimination against women is very strong, as experienced by the main character named Gin Ogino. This study used feminist standpoint research with the assumption that gender discrimination in society in the novel cannot be separated from womens real experiences perceived by the author. In addition to stand on or derived from real experiences from the first woman doctor in Japan, which with all her efforts to break away from discrimination against women endured throughout her life: before marriage, divorce, attending medical school to become a doctor, even after she was graduated from medical school, she still experienced gender discrimination. This study found that gender discrimination experienced by Ginko because she is a woman, in which at that time (the Meiji era there were clear boundaries between men and women. Difficulty and discrimination experienced are because Ginkos ideals were considered impossible, because she wanted to become a doctor. Her ability and cleverness were obstructed just because she is a woman. It can be concluded in the Meiji era, there was discrimination against women reflected in the Novel Ginko.

  20. Diskriminasi Gender dalam Novel Ginko Karya Junichi Watanabe

    Directory of Open Access Journals (Sweden)

    Linda Unsriana

    2014-05-01

    Full Text Available Discrimination is an attitude and behavior that violates human rights. Discrimination can also be interpreted as a treatment for individuals differently based on race, religion, or gender. Any harassment, restriction, or exclusion to race, religion, or gender includes discriminatory actions. The theme of discrimination experienced by many women made the writer want to examine it from literature point of view, especially Japanese literature. The problem in this paper is gender discrimination experienced by the main character in novel Ginko. In Ginko novel written by Junichi Watanabe, the theme of discrimination against women is very strong, as experienced by the main character named Gin Ogino. This study used feminist standpoint research with the assumption that gender discrimination in society in the novel cannot be separated from women’s real experiences perceived by the author. In addition to stand on or derived from real experiences from the first woman doctor in Japan, which with all her efforts to break away from discrimination against women endured throughout her life: before marriage, divorce, attending medical school to become a doctor, even after she was graduated from medical school, she still experienced gender discrimination. This study found that gender discrimination experienced by Ginko because she is a woman, in which at that time (the Meiji era there were clear boundaries between men and women. Difficulty and discrimination experienced are because Ginko’s ideals were considered impossible, because she wanted to become a doctor. Her ability and cleverness were obstructed just because she is a woman. It can be concluded in the Meiji era, there was discrimination against women reflected in the Novel Ginko.

  1. Atherosclerosis in Watanabe heritable hyperlipidaemic rabbits. Evaluation by macroscopic, microscopic and biochemical methods and comparison of atherosclerosis variables

    DEFF Research Database (Denmark)

    Hansen, B F; Mortensen, A; Hansen, J F

    1994-01-01

    estimation of aortic atherosclerosis extent and by biochemical analysis of aortic cholesterol content. No noteworthy atherosclerosis was demonstrated within 19 months in heterozygous rabbits. In homozygous rabbits, atherosclerotic lesions were seen from the age of 4 months and progressed with age. All 19......-month-old rabbits had severe atherosclerotic disease. As much as 64% of the variation in atherosclerosis extent/severity could be explained by serum cholesterol and age. A highly significant correlation between the various methods for quantitation of atherosclerosis extent and/or severity...... was demonstrated, suggesting that quantitative microscopy, macroscopic morphometry and determination of aortic cholesterol content may be equally valid as a measure of atherosclerosis in WHHL rabbits and are therefore interchangeable....

  2. Hyperlipidemic myeloma: review of 53 cases.

    Science.gov (United States)

    Misselwitz, Benjamin; Goede, Jeroen S; Pestalozzi, Bernhard C; Schanz, Urs; Seebach, Jörg D

    2010-06-01

    Hyperlipidemic myeloma is a rare and poorly understood variant of multiple myeloma. We report the case of a 53-year-old woman with hyperlipidemic myeloma, skin xanthomas and hyperviscosity syndrome who underwent allogeneic bone marrow transplantation. A comprehensive literature search identified 52 additional cases with plasma cell disease and hyperlipidemia. A detailed analysis revealed several characteristics of these patients as compared to multiple myeloma with normal lipid status: (1) IgA paraprotein was present in the majority (53% vs. 21% in classical multiple myeloma). (2) Skin xanthomas, especially in the palmar creases, elbows, and knees were common (70%). (3) Hyperviscosity syndrome occurred more often (26% vs. 2-6%). While conventional lipid-lowering therapy had only marginal effects, successful anti-myeloma therapy also reduced hyperlipidemia. Analyses of the mechanisms leading to hyperlipidemia documented complexes of paraprotein and lipoprotein in 75% of the 32 cases tested, suggesting an inhibitory role of the paraprotein on lipid degradation. In conclusion, the clinical characteristics, the therapeutic options, and the pathophysiologic mechanisms of hyperlipidemic myeloma are comprehensively reported using the available data from all 53 published cases in the literature.

  3. Short time kernel asymptotics for Young SDE by means of Watanabe distribution theory

    CERN Document Server

    Inahama, Yuzuru

    2011-01-01

    In this paper we study short time asymptotics of a density function of the solution of a stochastic differential equation driven by fractional Brownian motion with Hurst parameter $H \\in (1/2, 1)$ when the coefficient vector fields satisfy an ellipticity condition at the starting point. We prove both on-diagonal and off-diagonal asymptotics under mild additional assumptions. Our main tool is Malliavin calculus, in particular, Watanabe's theory of generalized Wiener functionals.

  4. Heritability of antisocial behaviour

    NARCIS (Netherlands)

    Kretschmer, Tina; DeLisi, Matt

    2016-01-01

    This chapter reviews important strands of research on the heritability of antisocial behavior and crime, including both quantitative genetic studies using twin or adoption designs as well as molecular genetic approaches. Study designs are introduced and findings discussed. Contemporary avenues inclu

  5. Heritable Disorders of Connective Tissue

    Science.gov (United States)

    ... Connective Tissue Find a Clinical Trial Journal Articles Connective Tissue August 2016 Questions and Answers about Heritable Disorders of Connective Tissue This publication contains general information about heritable (genetic) ...

  6. Successful Treatment of Bronchial Fistula after Pulmonary Lobectomy by Endobronchial Embolization Using an Endobronchial Watanabe Spigot

    Directory of Open Access Journals (Sweden)

    Yuichiro Machida

    2015-01-01

    Full Text Available A bronchial fistula is one of the most serious complications that can occur following pulmonary lobectomy. We herein report a case of bronchial fistula that was successfully treated by endobronchial embolization using an Endobronchial Watanabe Spigot (EWS. A 72-year-old male underwent right lower lobectomy of the lung with nodal dissection for a pulmonary squamous cell carcinoma. A bronchial fistula developed 53 days after surgery. Tube drainage was performed, and air leakage was apparent. Under endoscopic observation, intrathoracic injection of indigo carmine revealed that a fistula existed at the peripheral site of the B2ai bronchus. After one EWS (small was inserted into the B2a bronchus tightly using a bronchoscope, the air leakage was stopped. Pleurodesis was further carried out, the thoracostomy tube was subsequently removed, and the patient was discharged. Endobronchial embolization using an EWS is an option for the treatment of a bronchial fistula after pulmonary resection.

  7. Increased plant sterol and stanol levels in brain of Watanabe rabbits fed rapeseed oil derived plant sterol or stanol esters

    DEFF Research Database (Denmark)

    Fricke, Christiane B.; Schrøder, Malene; Poulsen, Morten

    2007-01-01

    of these components in brain tissue of homozygous and heterozygous Watanabe rabbits, an animal model for familial hypercholesterolemia. Homozygous animals received either a standard diet, RSO stanol or RSO sterol ester while heterozygous animals were additionally fed with 2 g cholesterol/kg to the respective diet...

  8. Cardiometabolic Risk in Hyperlipidemic Men and Women

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    Michael Leutner

    2016-01-01

    Full Text Available Objective. The aim of this study was to evaluate sex specific differences of metabolic and clinical characteristics of treated hyperlipidemic men and women (HL-men and HL-women. Methods. In this study vascular and metabolic characteristics of 35 HL-women and 64 HL-men were assessed. In addition a sex specific analysis of metabolic and nutritional habits of HL-patients with prediabetes (HL-IGR was done. Results. HL-women were older and had favourable concentrations of high density lipoprotein cholesterol (HDL-cholesterol, triglycerides (TG, and triglyceride/HDL-cholesterol ratio (TG/HDL-ratio but were also shown to have higher concentrations of lipoprotein-a compared to HL-men. HL-men were characterized as having higher levels of liver-specific parameters and body weight as well as being more physically active compared to HL-women. Brain natriuretic peptide (pro-BNP was higher in HL-women than HL-men, while no differences in metabolic syndrome and glycemic parameters were shown. HL-IGR-women were also older and still had a better profile of sex specific lipid parameters, as well as a lower body weight compared to HL-IGR-men. No differences were seen in vascular parameters such as the intima media thickness (IMT. Conclusion. HL-women were older and had overall more favourable concentrations of lipid parameters and liver enzymes but did not differ regarding vascular morphology and insulin sensitivity compared to HL-men of comparable body mass index (BMI.

  9. Heritability and biological explanation.

    Science.gov (United States)

    Turkheimer, E

    1998-10-01

    Modern neuroscientific and genetic technologies have provoked intense disagreement between scientists who envision a future in which biogenetic theories will enrich or even replace psychological theories, and others who consider biogenetic theories exaggerated, dehumanizing, and dangerous. Both sides of the debate about the role of genes and brains in the genesis of human behavior have missed an important point: All human behavior that varies among individuals is partially heritable and correlated with measurable aspects of brains, but the very ubiquity of these findings makes them a poor basis for reformulating scientists' conceptions of human behavior. Materialism requires psychological processes to be physically instantiated, but more crucial for psychology is the occasional empirical discovery of behavioral phenomena that are specific manifestations of low-level biological variables. Heritability and psychobiological association cannot be the basis for establishing whether behavior is genetic or biological, because to do so leads only to the banal tautology that all behavior is ultimately based in the genotype and brain.

  10. Heritability in inflammatory bowel disease

    DEFF Research Database (Denmark)

    Gordon, Hannah; Trier Moller, Frederik; Andersen, Vibeke

    2015-01-01

    Since Tysk et al's pioneering analysis of the Swedish twin registry, twin and family studies continue to support a strong genetic basis of the inflammatory bowel diseases. The coefficient of heritability for siblings of inflammatory bowel disease probands is 25 to 42 for Crohn's disease and 4 to 15...... for ulcerative colitis. Heritability estimates for Crohn's disease and ulcerative colitis from pooled twin studies are 0.75 and 0.67, respectively. However, this is at odds with the much lower heritability estimates from Genome-Wide Association Studies (GWAS). This "missing heritability" is likely due...... to shortfalls in both family studies and GWAS. The coefficient of heritability fails to account for familial shared environment. Heritability calculations from twin data are based on Falconer's method, with premises that are increasingly understood to be flawed. GWAS based heritability estimates may...

  11. Chimpanzee intelligence is heritable.

    Science.gov (United States)

    Hopkins, William D; Russell, Jamie L; Schaeffer, Jennifer

    2014-07-21

    The role that genes play in human intelligence or IQ has remained a point of significant scientific debate dating back to the time of Galton [1]. It has now become increasingly clear that IQ is heritable in humans, but these effects can be modified by nongenetic mechanisms [2-4]. In contrast to human IQ, until recently, views of learning and cognition in animals have largely been dominated by the behaviorist school of thought, originally championed by Watson [5] and Skinner [6]. A large body of accumulated research now demonstrates a variety of cognitive abilities in nonhuman animals and challenges traditional behaviorist interpretations of performance [7, 8]. This, in turn, has led to a renewed interest in the role that social and biological factors might play in explaining individual and phylogenetic differences in cognition [9]. Specifically, aside from early attempts to selectively breed for learning skills in rodents [10-12], studies examining the role that genetic factors might play in individual variation in cognitive abilities in nonhuman animals, particularly nonhuman primates, are scarce. Here, we utilized a modified Primate Cognitive Test Battery [13] in conjunction with quantitative genetic analyses to examine whether cognitive performance is heritable in chimpanzees. We found that some but not all cognitive traits were significantly heritable in chimpanzees. We further found significant genetic correlations between different dimensions of cognitive functioning, suggesting that the genes that explain the variability of one cognitive trait might also explain that of other cognitive traits.

  12. Heritability of caffeine metabolism

    DEFF Research Database (Denmark)

    Matthaei, Johannes; Tzvetkov, Mladen V; Strube, Jakob

    2016-01-01

    Heritability of caffeine pharmacokinetics and CYP1A2 activity is controversial. Here we analyzed the pharmacokinetics of caffeine, an in vivo probe drug for CYP1A2 and arylamine N-acetyltransferase 2 (NAT2) activity, in monozygotic and dizygotic twins. In the entire group, common and unique...... environmental effects explained most variation in caffeine AUC. Apparently, smoking and hormonal contraceptives masked the genetic effects on CYP1A2 activity. However, when excluding smokers and users of hormonal contraceptives, 89% of caffeine AUC variation was due to genetic effects and even in the entire...... group, 8% of caffeine AUC variation could be explained by a CYP1A1/1A2 promotor polymorphism (rs2470893). In contrast, nearly all of the variation (99%) of NAT2 activity was explained by genetic effects. This study illustrates two very different situations in pharmacogenetics, from an almost exclusively...

  13. Heritability of clubfoot

    DEFF Research Database (Denmark)

    Engell, Vilhelm; Nielsen, Jan; Damborg, Frank

    2014-01-01

    born in Denmark over the last 140 years. All 46,418 twin individuals born from 1931 through 1982, who had earlier consented to contact, received a 17-page Omnibus questionnaire in the spring of 2002. Data were analysed with structural equation models to identify the best fitting aetiological model...... representing 12 monozygotic, 22 same-sex dizygotic, 18 opposite-sex dizygotic, and 3 with unclassified zygosity. The model with only environmental factors (CE) was best fitting based on AIC, and the model with an additive genetic factor (ACE) came in second. Due to the small statistical power, we hypothesise...... based on a balance of goodness-of-fit and parsimony and to estimate heritability. RESULTS: We found an overall self-reported prevalence of congenital clubfoot of 0.0027 (95 % confidence interval 0.0022-0.0034). Fifty-five complete (both twins answered the question) twin pairs were identified...

  14. Therapeutic effect of osthole on hyperlipidemic fatty liver in rats

    Institute of Scientific and Technical Information of China (English)

    Yan ZHANG; Mei-lin XIE; Lu-jia ZHU; Zhen-lun GU

    2007-01-01

    Aim: To study the effects of osthole on hyperlipidemic fatty liver and investigate the possible mechanisms. Methods: A rat model with hyperlipidemic fatty liver was successfully established by feeding fatty milk for 6 weeks. The experimental rats were then treated with 5-20 mg/kg osthole for 6 weeks. The mouse hypedipi-demic model was induced by feeding fatty milk when they were treated with 10-20 mg/kg osthole for 3 weeks. Results: After treatment with osthole, the levels of rat serum total cholesterol (TC), triglyceride (TG) and low density lipoprotein-choles-terol significantly decreased as compared with the fatty liver model group (P<0.05 or P<0.01). Hepatic weight and its coefficient, the hepatic tissue contents of TC,TG, and malondialdehyde, also significantly decreased (P<0.05 or P<0.01). In fatty milk-induced hyperlipidemic mice, the post-heparin plasma activities of lipo-protein lipase (LPL), hepatic lipase (HL), and total lipase (TL) significantly increased after treatment with 10-20 mg/kg osthole for 3 weeks (P<0.05 or P<0.01).Importantly, the histological evaluation of rat liver demonstrated that osthole dramatically decreased lipid accumulation (P<0.01). Conclusion: Osthole was found to have therapeutic effects on fatty milk-induced rat fatty liver; the mecha-nisms might be associated with its anti-oxidation and the elevation of the activi-ties of LPL and HL.

  15. Effect of pioglitazone on the abrogated cardioprotective effect of ischemic preconditioning in hyperlipidemic rat heart

    Directory of Open Access Journals (Sweden)

    Dhiraj Mittal

    2016-01-01

    Conclusion: Cardioprotective effect of IPC gets lost in hyperlipidemic rat heart. The results suggest that perfusion of pioglitazone restored the cardioprotective effect of IPC in hyperlipidemic rat heart, an effect that may be via PI3K and mTOR.

  16. Genomic Heritability: What Is It?

    DEFF Research Database (Denmark)

    de los Campos, Gustavo; Sorensen, Daniel; Gianola, Daniel

    2015-01-01

    of phenotypic variance that can be explained by regression on molecular markers. This is so even though some of the assumptions commonly adopted for data analysis are at odds with important quantitative genetic concepts. In this article we develop theory that leads to a precise definition of parameters arising...... in high dimensional genomic regressions; we focus on the so-called genomic heritability: the proportion of variance of a trait that can be explained (in the population) by a linear regression on a set of markers. We propose a definition of this parameter that is framed within the classical quantitative...... genetics theory and show that the genomic heritability and the trait heritability parameters are equal only when all causal variants are typed. Further, we discuss how the genomic variance and genomic heritability, defined as quantitative genetic parameters, relate to parameters of statistical models...

  17. Suitability of laboratory animals for screening anti-hyperlipidemic agents.

    Directory of Open Access Journals (Sweden)

    Rajwade N

    1989-07-01

    Full Text Available The present study was undertaken to evaluate and compare the lipid profiles of various laboratory animals to that of human beings. The human subjects and animals included in the study were from three age groups based on key physiological states. A record of the usual dietary constituents and their daily consumption was maintained. The results indicated that the lipid profile of pigs and dogs bears similarity to that of human beings. Results also revealed that lipid profile was labile in the second group of these animals indicating that this age is suitable to bring about the required changes to produce a hyperlipidemic animal.

  18. Lipid Lowering Activity of Anthocephalus indicus Root in Hyperlipidemic Rats

    Directory of Open Access Journals (Sweden)

    Vishnu Kumar

    2010-01-01

    Full Text Available The lipid lowering activity of Anthocephalus indicus (family Rubiaceae; Hindi name Kadamba root extract has been studied in triton WR-1339 induced hyperlipidemia in rats. In this model, feeding with root extract (500 mg kg−1 b.w. lowered plasma lipids and reactivated post-heparin lipolytic activity in hyperlipidemic rats. Furthermore, the root extract (50–500 μM inhibited the generation of superoxide anions and hydroxyl radicals, in both enzymic and non-enzymic systems, in vitro. The results of the present study demonstrated both lipid lowering and antioxidant activities in root extract of A. indicus, which could help prevention of hyperlipidemia and related diseases.

  19. Serum amyloid A regulates monopoiesis in hyperlipidemic Ldlr(-/-) mice.

    Science.gov (United States)

    Krishack, Paulette A; Sontag, Timothy J; Getz, Godfrey S; Reardon, Catherine A

    2016-08-01

    We previously showed that feeding a Western-type diet (WTD) to Ldlr(-/-) mice lacking serum amyloid A (SAA) (Saa(-/-) Ldlr(-/-) mice), the level of total blood monocytes was higher than in Ldlr(-/-) mice. In this investigation we demonstrate that higher levels of bone marrow monocytes and macrophage-dendritic cell progenitor (MDP) cells were found in WTD-fed Saa(-/-) Ldlr(-/-) mice compared to Ldlr(-/-) mice and lower levels of GMP cells and CMP cells in Ldlr(-/-) mice. These data indicate that SAA regulates the level of bone marrow monocytes and their myeloid progenitors in hyperlipidemic Ldlr(-/-) mice.

  20. Effective Management of Persistent Pneumothorax Using a Thopaz® Digital Drainage System Combined with an Endobronchial Watanabe Spigot.

    Science.gov (United States)

    Shiroyama, Takayuki; Okamoto, Norio; Tamiya, Motohiro; Hamaguchi, Masanari; Tanaka, Ayako; Nishida, Takuji; Hayama, Manabu; Nishihara, Takashi; Morishita, Naoko; Suzuki, Hidekazu; Hirashima, Tomonori

    2016-01-01

    A 72-year-old man with salivary gland cancer and multiple pulmonary metastases suffering from intractable pneumothorax was transferred to our institution; he was inoperable because of a low pulmonary function. A chest tube had been placed more than a month prior to this admission. A digital drainage system was used for 24-h monitoring of air leaks (Thopaz®). Using the Thopaz® system, we performed endoscopic bronchial occlusion using an endobronchial Watanabe spigot (EWS) to reduce air leaks. Finally, the air leaks ceased, and the chest tube was removed five days after EWS placement. We herein report a case of persistent pneumothorax that was successfully treated by endoscopic bronchial EWS placement with the aid of a Thopaz® system.

  1. Endobronchial Watanabe spigot embolisation in the treatment of bronchopleural fistula due to tuberculous empyema in intensive care unit.

    Science.gov (United States)

    Dalar, Levent; Kosar, Filizs; Eryuksel, Emel; Karasulu, Levent; Altin, Sedat

    2013-01-01

    Tuberculosis may be complicated with empyema and fistula in patients with cellular immune deficiency. The case presented was a 39-year-old male patient with diagnosis of rheumatoid arthritis developed hydropneumothorax while taking steroid and immunosuppressive treatment and examination of pleural fluid revealed acid-fast bacilli. The patient was admitted to the intensive care unit due to respiratory failure and underwent bronchoscopic examination due to air leakage. The right middle lobe was obliterated by using an endobronchial Watanabe Spigot (EWS), and the amount of leakage decreased considerably after the procedure. On day 7, chest tube drainage was removed, and empyema was drained with a Pezzer drain. On day 50, upon the cessation of empyema drainage, spigots were removed with rigid and flexible bronchoscope. In conclusion, EWS use in the treatment of bronchopleural fistula is an effective, safe and a reversible procedure.

  2. Heritability of adult body height

    DEFF Research Database (Denmark)

    Silventoinen, Karri; Sammalisto, Sampo; Perola, Markus

    2003-01-01

    /unique environment (AE) model. Among women the heritability estimates were generally lower than among men with greater variation between countries, ranging from 0.68 to 0.84 when an additive genes/shared environment/unique environment (ACE) model was used. In four populations where an AE model fit equally well...

  3. Enhanced oxidative stress in neutrophils from hyperlipidemic guinea pig.

    Science.gov (United States)

    Maeda, Kensaku; Yasunari, Kenichi; Sato, Eisuke F; Inoue, Masayasu

    2005-07-01

    Inhibitors of 3-hydroxy-3-methylglutaryl CoA (HMG-CoA) reductase are antilipidemic agents (statins) widely used for the prevention of cardiovascular diseases. Recent studies have suggested that the overall benefits of statin therapy cannot be accounted for solely by its antilipidemic effect. To obtain further insight into the mechanism of action of statins, we studied the effect of pitavastatin on the generation of reactive oxygen species (ROS) by peritoneal polymorphonuclear leukocytes (PMN) obtained from control and hyperlipidemic guinea pigs. Flow cytometric analysis revealed that the amount of ROS generated by PMN from the hyperlipidemic animals that had been administered a laurate-containing diet (LD) for 4 weeks was larger than that from the normal diet (ND) group (837% increase, ND; 82.17 arbitrary units, LD; 688.10 arbitrary units, P < 0.01, n = 6). Administration of pitavastatin to the LD group significantly decreased plasma levels of total cholesterol (TC) and low-density lipoprotein (LDL) with a reduction in ROS generation by PMN (19% decrease, LD control; 688.10 arbitrary units, LD + pitavastatin; 556.87 arbitrary units, P < 0.01, n = 6). Western blotting analysis revealed that the expression of protein kinase C alpha (PKC alpha) and betaI was higher in PMN from the LD group than in PMN from the ND group (PKC alpha; 74% increase, PKC betaI; 339% increase, P < 0.05, n = 4, respectively). Furthermore, expression of NADPH oxidase gp91phox in PMN from the LD group was higher than that in PMN from the ND group (18% increase, P < 0.05, n = 4). By administration of pitavastatin to the LD group, the expression of PKC alpha, betaI and gp91phox was suppressed compared with the control LD group (PKC alpha; 41% decrease, PKC beta; 28% decrease, gp91phox; 56% decrease, P < 0.05, n = 4, respectively). These results indicate that PMN from hyperlipidemic animals is associated with an accelerated respiratory burst of ROS by increasing the expression of PKC alpha, beta

  4. If Auditors Are Like Belgian Beers, Which Style Would You Prefer? : Discussion of “Auditor Style and Financial Statement Comparability” by Francis, Pinnuck, and Watanabe .

    NARCIS (Netherlands)

    Bruynseels, L.M.L.; Brenk, van H.M.

    2016-01-01

    Recent research by Francis, Pinnuck, and Watanabe (2014) has shown that financial reporting outcomes are influenced by the audit firm’s unique audit style. They argue that audit firm styles are driven by their “unique set of internal working rules that guide the auditor’s application of accounting a

  5. If Auditors Are Like Belgian Beers, Which Style Would You Prefer? : Discussion of “Auditor Style and Financial Statement Comparability” by Francis, Pinnuck, and Watanabe .

    NARCIS (Netherlands)

    Bruynseels, L.M.L.; Brenk, van H.M.

    2016-01-01

    Recent research by Francis, Pinnuck, and Watanabe (2014) has shown that financial reporting outcomes are influenced by the audit firm’s unique audit style. They argue that audit firm styles are driven by their “unique set of internal working rules that guide the auditor’s application of accounting

  6. Genomic heritability: what is it?

    Directory of Open Access Journals (Sweden)

    Gustavo de Los Campos

    2015-05-01

    Full Text Available Whole-genome regression methods are being increasingly used for the analysis and prediction of complex traits and diseases. In human genetics, these methods are commonly used for inferences about genetic parameters, such as the amount of genetic variance among individuals or the proportion of phenotypic variance that can be explained by regression on molecular markers. This is so even though some of the assumptions commonly adopted for data analysis are at odds with important quantitative genetic concepts. In this article we develop theory that leads to a precise definition of parameters arising in high dimensional genomic regressions; we focus on the so-called genomic heritability: the proportion of variance of a trait that can be explained (in the population by a linear regression on a set of markers. We propose a definition of this parameter that is framed within the classical quantitative genetics theory and show that the genomic heritability and the trait heritability parameters are equal only when all causal variants are typed. Further, we discuss how the genomic variance and genomic heritability, defined as quantitative genetic parameters, relate to parameters of statistical models commonly used for inferences, and indicate potential inferential problems that are assessed further using simulations. When a large proportion of the markers used in the analysis are in LE with QTL the likelihood function can be misspecified. This can induce a sizable finite-sample bias and, possibly, lack of consistency of likelihood (or Bayesian estimates. This situation can be encountered if the individuals in the sample are distantly related and linkage disequilibrium spans over short regions. This bias does not negate the use of whole-genome regression models as predictive machines; however, our results indicate that caution is needed when using marker-based regressions for inferences about population parameters such as the genomic heritability.

  7. Anti-hyperlipidemic and insulin sensitizing activities of fenofibrate reduces aortic lipid deposition in hyperlipidemic Golden Syrian hamster.

    Science.gov (United States)

    Srivastava, Rai Ajit K; He, Shirley

    2010-12-01

    Cholesterol ester transfer protein (CETP) and apolipoprotein (apo) E are important in peroxisome proliferation activated receptor-α (PPAR-α)-mediated regulation of lipoprotein metabolism. Therefore, popularly used apolipoprotein E knockout mice are not suitable to evaluate PPAR-α agonists. In this study, we aimed to: a) evaluate hamster as a model for insulin resistance, hyperlipidemia and atherosclerosis; and b) investigate the effect of a PPAR-α activator, fenofibrate, in this model. A high fat high cholesterol (HFHC) diet increased serum cholesterol and triglycerides, but inclusion of fenofibrate in the diet decreased cholesterol and proatherogenic lipoproteins, VLDL and LDL, in a time-dependent manner. Concomitantly, serum levels of triglycerides also decreased. These reductions were attributed, in part, to the down-regulation of lipogenic genes and upregulation of lipoprotein lipase. The HFHC diet caused body weight gain and mild insulin resistance, both of which were prevented following the treatments with fenofibrate. Insulin resistance was further investigated in high fructose-fed hamsters. Fenofibrate prevented both hyperinsulinemia and hypertriglyceridemia. The insulin sensitizing activity of fenofibrate appeared to occur via reductions in protein tyrosine phophatase-1B. To determine whether lowering of lipids by fenofibrate treatment contributed to the reduced risks of developing atherosclerosis in hyperlipidemic hamsters, we measured lipid deposition in the aorta. Our results showed that fenofibrate treatment reduced aortic lipid deposition by 70%. These findings suggest that hamster may be an adequate animal model to evaluate the efficacy of lipid lowering, insulin sensitizing and antiatherosclerotic agents. We also show that fenofibrate is an effective antiatherosclerotic agent in hyperlipidemic hamster model.

  8. Heritability of the limbic networks

    Science.gov (United States)

    Kawadler, Jamie M.; Dell'Acqua, Flavio; Rijsdijk, Frühling V.; Kane, Fergus; Picchioni, Marco; McGuire, Philip; Toulopoulou, Timothea; Georgiades, Anna; Kalidindi, Sridevi; Kravariti, Eugenia; Murray, Robin M.; Murphy, Declan G.; Craig, Michael C.; Catani, Marco

    2016-01-01

    Individual differences in cognitive ability and social behaviour are influenced by the variability in the structure and function of the limbic system. A strong heritability of the limbic cortex has been previously reported, but little is known about how genetic factors influence specific limbic networks. We used diffusion tensor imaging tractography to investigate heritability of different limbic tracts in 52 monozygotic and 34 dizygotic healthy adult twins. We explored the connections that contribute to the activity of three distinct functional limbic networks, namely the dorsal cingulum (‘medial default-mode network’), the ventral cingulum and the fornix (‘hippocampal-diencephalic-retrosplenial network’) and the uncinate fasciculus (‘temporo-amygdala-orbitofrontal network’). Genetic and environmental variances were mapped for multiple tract-specific measures that reflect different aspects of the underlying anatomy. We report the highest heritability for the uncinate fasciculus, a tract that underpins emotion processing, semantic cognition, and social behaviour. High to moderate genetic and shared environmental effects were found for pathways important for social behaviour and memory, for example, fornix, dorsal and ventral cingulum. These findings indicate that within the limbic system inheritance of specific traits may rely on the anatomy of distinct networks and is higher for fronto-temporal pathways dedicated to complex social behaviour and emotional processing. PMID:26714573

  9. The heritability of blood donation

    DEFF Research Database (Denmark)

    Pedersen, Ole Birger; Axel, Skytthe; Rostgaard, Klaus

    2015-01-01

    BACKGROUND: Voluntary blood donation is believed to be mostly motivated by altruism. Because studies have suggested that altruistic personality is determined by both genetic and environmental factors, we speculated that willingness to donate blood could also be governed by constitutional factors...... active Danish blood donors from 2002 to 2012, to establish blood donor status for Danish twins, who at age 17 years became eligible for donation in 2002 or later. Casewise concordance in monozygotic (MZ) and dizygotic (DZ) twins were presented and heritability was estimated in Mx by variance component...... to donate blood, respectively. CONCLUSION: Becoming a volunteer blood donor is determined by both genetic and environmental factors shared within families....

  10. Phytopreventative anti-hyperlipidemic effects of gynostemma pentaphyllum in rats.

    Science.gov (United States)

    Megalli, Samer; Aktan, Fugen; Davies, Neal M; Roufogalis, Basil D

    2005-09-16

    Gynostemma pentaphyllum is widely used in traditional Chinese medicine. Preliminary studies indicate Gynostemma isolated triterpine glycosides lower cholesterol. Our studies examine anti-hyperlipidemic effects of gypenosides. Gynostemma activity was examined in poloxamer P407 induced hyperlipidemia in rats. 1 g/kg P407 induced plasma triglyceride (25 fold), total cholesterol (6 fold), low density lipoprotein cholesterol (LDL) (7 fold), high density lipoprotein cholesterol (HDL) (1.6 fold), and nitrite (8 fold). After acute (4 days) and chronic (12 days) oral administration the gypenoside extract (250 mg/kg) reduced triglyceride (53% and 85%, respectively) and total cholesterol levels (10% and 44%, respectively). No significant effects on LDL or HDL cholesterol were observed. The gypenosides reduced nitrite approximately 80%. Similar results were obtained with atorvastatin (75 mg/kg for 4 days); except that LDL cholesterol was reduced (17%) and HDL cholesterol increased. 50% of lipoprotein lipase (LPL) plasma activity was inhibited by approximately 20 microM P407. Gynostemma had no effect on LL, however, it reversed the P407 inhibition of LPL activity in a concentration-dependent manner, with a 2-fold increase at approximately 10 microg/ml. These studies demonstrate efficacy of Gynostemma pentaphyllum in lowering triglyceride, cholesterol and nitrite in acute hyperlipidemia. The results suggest further investigations of Gynostemma gypenosides are warranted to examine the mechanisms of this activity.

  11. Heritability of Attractiveness to Mosquitoes

    Science.gov (United States)

    Fernández-Grandon, G. Mandela; Gezan, Salvador A.; Armour, John A. L.; Pickett, John A.; Logan, James G.

    2015-01-01

    Female mosquitoes display preferences for certain individuals over others, which is determined by differences in volatile chemicals produced by the human body and detected by mosquitoes. Body odour can be controlled genetically but the existence of a genetic basis for differential attraction to insects has never been formally demonstrated. This study investigated heritability of attractiveness to mosquitoes by evaluating the response of Aedes aegypti (=Stegomyia aegypti) mosquitoes to odours from the hands of identical and non-identical twins in a dual-choice assay. Volatiles from individuals in an identical twin pair showed a high correlation in attractiveness to mosquitoes, while non-identical twin pairs showed a significantly lower correlation. Overall, there was a strong narrow-sense heritability of 0.62 (SE 0.124) for relative attraction and 0.67 (0.354) for flight activity based on the average of ten measurements. The results demonstrate an underlying genetic component detectable by mosquitoes through olfaction. Understanding the genetic basis for attractiveness could create a more informed approach to repellent development. PMID:25901606

  12. Formalized therapeutic guideline for hyperlipidemic severe acute pancreatitis

    Institute of Scientific and Technical Information of China (English)

    En-Qiang Mao; Yao-Qing Tang; Sheng-Dao Zhang

    2003-01-01

    AIM: To investigate a formalized therapeutic guideline for hyperlipidemic severe acute pancreatitis (HL-SAP).METHODS: Thirty-two consecutive patients with severe acute pancreatitis were included in the clinical trial. All of them met the following five criteria for admission to the study, namely the Atlanta classification and stratification system for the clinical diagnosis of SAP, APACHEII score more than 8, time interval for therapeutic intervention less than 72 hours after onset of the disease, serum triglyceride (TG) level 6.8 mmol/l or over, and exdusion of other etiologies.They were divided into severe acute pancreatitis group (SAP,22 patients) and fulminant severe acute pancreatitis group (FSAP, 10 patients). Besides the conventional therapeutic measures, Penta-association therapywas also applied in the two groups, which consisted of blood purification (adsorption of triglyceride and hemofiltration), antihyperlipidemic agents (fluvastatin or lipanthyl), low molecular weight heparin (fragmin), insulin, topical application of Pixiao (a traditional Chinese medicine) over the whole abdomen, serum triglyceride,pro-inflammatory cytokines and anti-inflammatory cytokines were determined before blood purification (PF), at the end of blood purification (AFE) and on the 7th day after onset of the disease (AF7) respectively. Simultaneously, severity of the diseases was assessed by the APACHE Ⅱ system.Prognosis was evaluated by non-operation cure rate,absorption rate of pseudocyst, time interval pseudocyst absorption, hospital stay and survival rate.RESULTS: Serum triglyceride level (mmol/L), TNFα (U/mi) concentration and APACHE Ⅱ score were significantly decreased (P<0.05) at AFE and AF7, as compared with PF.However, serum IL-10 concentration (pg/ml) was increased significantly (P<0.001) at AFE, and decreased significantly (P<0.05) at AF7 when compared with PF. Operations: The First surgical intervention time was 55.8±42.6 days in SAP group (5 patients) and

  13. Antihyperlipidemic activity of adenosine triphosphate in rabbits fed a high-fat diet and hyperlipidemic patients.

    Science.gov (United States)

    Zhang, Lianshan; Liang, Libin; Tong, Tong; Qin, Yuguo; Xu, Yanping; Tong, Xinglong

    2016-10-01

    Context Recently, adenosine triphosphate (ATP) was occasionally found to decrease the triglyceride (TG) levels in several hyperlipidemic patients in our clinical practice. Objective The study investigates the anti-hyperlipidemic effects of ATP in a high-fat fed rabbit model and hyperlipidemic patients. Materials and methods Twenty-four rabbits were randomly divided into three groups of eight animals each as follows: normal diet, high-fat diet and high-fat diet + ATP group. ATP supplementation (40 mg/day) was started at the 20th day and lasted for 10 days. Serum concentrations of total cholesterol (TC), TG, LDL-C, HDL-C were measured on the 20th day and 30th day. Heart, liver and aorta were subjected histopathological examination. Twenty outpatients diagnosed primary hyperlipidemia took ATP at a dose of 60 mg twice a day for 1 week. Results Feeding rabbits with a high-fat diet resulted in a significant elevation of lipid parameters including TC, TG, LDL-C, VLDL-C compared to the normal diet group (p ATP treatment significantly decreased serum TG level (p ATP significantly reduced the thickness of fat layer in cardiac epicardium (p ATP for 1 week, hyperlipidemia patients exhibited a significant decrease of TG (p ATP selectively decreases serum TG levels in high-fat diet rabbits and hyperlipidemic patients. Therefore, ATP supplementation may provide an effective approach to control TG level.

  14. Intrahepatic cholesterol influences progression, inhibition and reversal of non-alcoholic steatohepatitis in hyperlipidemic mice

    NARCIS (Netherlands)

    Wouters, Kristiaan; van Bilsen, Marc; van Gorp, Patrick J.; Bieghs, Veerle; Luetjohann, Dieter; Kerksiek, Anja; Staels, Bart; Hofker, Marten H.; Shiri-Sverdlov, Ronit

    2010-01-01

    Hepatic inflammation is the key factor in non-alcoholic steatohepatitis (NASH) and promotes progression to liver damage. We recently identified dietary cholesterol as the cause of hepatic inflammation in hyperlipidemic mice. We now show that hepatic transcriptome responses are strongly dependent on

  15. Expression and significance of Pdlim2 in the glomerular podocyte of hyperlipidemic rate

    Institute of Scientific and Technical Information of China (English)

    彭兰

    2014-01-01

    Objective To investigate the expression changes and significance of Pdlim2 in the glomerular podocyte of hyperlipidemic rats.Methods Forty-five individuals of SD rats were divided randomly into 3 groups(n=15 in each group).The control group was fed with normal diet.The high fat group was fed with high fat diet.The simvastatin

  16. Heritability of bipolar affective disorder: Family study

    OpenAIRE

    Obradović Tanja; Veličković Ružica; Timotijević Ivana; Anđelković Marko

    2011-01-01

    Background/Aim. Bipolar affective disorder is mental disorder with polygenic type of heredity. Heritability - relation between genetic and environmental variance is used to estimate the level of influence of genetic variance to phenotype variance. Study results show decreasing trend in the value of heritability of bipolar affective disorder, thus indicating that this disorder is a complex behavioral threshold characteristic. Therefore, the aim of this study was to estimate the contribut...

  17. Heritability of bipolar affective disorder: Family study

    Directory of Open Access Journals (Sweden)

    Obradović Tanja

    2011-01-01

    Full Text Available Background/Aim. Bipolar affective disorder is mental disorder with polygenic type of heredity. Heritability - relation between genetic and environmental variance is used to estimate the level of influence of genetic variance to phenotype variance. Study results show decreasing trend in the value of heritability of bipolar affective disorder, thus indicating that this disorder is a complex behavioral threshold characteristic. Therefore, the aim of this study was to estimate the contribution of genetic variance to phenotype variance of bipolar affective disorder, i.e. to estimate heritability of this disorder. Methods. By the use of a questionnaire, 80 patients with over crossed threshold for bipolar affective disorder were asked for functional information about the members of their families belonging to the first degree of relation (fathers, mothers and full- sibs. By using ”Applet for calculating heritability for threshold traits (disease“, and regression analysis, heritability of bipolar affective disorder as well as its statistical significance, were estimated (χ2 test. Results. Heritability and relationship of genetic and environmental variance of bipolar affective disorder is 0.2 with statistically significant difference from zero (p < 0.001. Conclusion. The estimated contribution of genetic variance to phenotype variance of bipolar affective disorder is low being 20%, while the contribution of environmental variance is 80%. This result contributes to the understanding of bipolar affective disorder as a complex behavioral threshold trait.

  18. Comparison of BISAP, Ranson, MCTSI, and APACHE II in Predicting Severity and Prognoses of Hyperlipidemic Acute Pancreatitis in Chinese Patients

    OpenAIRE

    Lixin Yang; Jing Liu; Yun Xing; Lichuan Du; Jing Chen; Xin Liu; Jianyu Hao

    2016-01-01

    In recent years, with the developing of living standard, hyperlipidemia becomes the second major reason of acute pancreatitis. It is important to predict the severity and prognosis at early stage of hyperlipidemic acute pancreatitis (HLAP). We compared the BISAP, Ranson, MCTSI, and APACHE II scoring system in predicting MSAP and SAP, local complications, and mortality of HLAP. A total of 326 diagnosed hyperlipidemic acute pancreatitis patients from August 2006 to July 2015 were studied retros...

  19. Quantifying missing heritability at known GWAS loci.

    Directory of Open Access Journals (Sweden)

    Alexander Gusev

    Full Text Available Recent work has shown that much of the missing heritability of complex traits can be resolved by estimates of heritability explained by all genotyped SNPs. However, it is currently unknown how much heritability is missing due to poor tagging or additional causal variants at known GWAS loci. Here, we use variance components to quantify the heritability explained by all SNPs at known GWAS loci in nine diseases from WTCCC1 and WTCCC2. After accounting for expectation, we observed all SNPs at known GWAS loci to explain 1.29 x more heritability than GWAS-associated SNPs on average (P=3.3 x 10⁻⁵. For some diseases, this increase was individually significant: 2.07 x for Multiple Sclerosis (MS (P=6.5 x 10⁻⁹ and 1.48 x for Crohn's Disease (CD (P = 1.3 x 10⁻³; all analyses of autoimmune diseases excluded the well-studied MHC region. Additionally, we found that GWAS loci from other related traits also explained significant heritability. The union of all autoimmune disease loci explained 7.15 x more MS heritability than known MS SNPs (P 20,000 Rheumatoid Arthritis (RA samples typed on ImmunoChip, with 2.37 x more heritability from all SNPs at GWAS loci (P = 2.3 x 10⁻⁶ and 5.33 x more heritability from all autoimmune disease loci (P < 1 x 10⁻¹⁶ compared to known RA SNPs (including those identified in this cohort. Our methods adjust for LD between SNPs, which can bias standard estimates of heritability from SNPs even if all causal variants are typed. By comparing adjusted estimates, we hypothesize that the genome-wide distribution of causal variants is enriched for low-frequency alleles, but that causal variants at known GWAS loci are skewed towards common alleles. These findings have important ramifications for fine-mapping study design and our understanding of complex disease architecture.

  20. Heritable and non-heritable genetic effects on retained placenta in Meuse-Rhine-Yssel cattle

    NARCIS (Netherlands)

    Benedictus, L.; Koets, A.P.; Kuijpers, F.H.J.; Joosten, I.; Eldik, van P.; Heuven, H.C.M.

    2013-01-01

    Failure of the timely expulsion of the fetal membranes, called retained placenta, leads to reduced fertility, increased veterinary costs and reduced milk yields. The objectives of this study were to concurrently look at the heritable and non-heritable genetic effects on retained placenta and test th

  1. Effect of zinc supplements in the attenuated cardioprotective effect of ischemic preconditioning in hyperlipidemic rat heart.

    Science.gov (United States)

    Kansal, Sunil Kumar; Jyoti, Uma; Sharma, Samridhi; Kaura, Arun; Deshmukh, Rahul; Goyal, Sandeep

    2015-06-01

    Hyperlipidemia is regarded as independent risk factor in the development of ischemic heart disease, and it can increase the myocardial susceptibility to ischemia-/reperfusion (I/R)-induced injury. Hyperlipidemia attenuates the cardioprotective response of ischemic preconditioning (IPC). The present study investigated the effect of zinc supplements in the attenuated cardioprotective effect of ischemic preconditioning in hyperlipidemic rat hearts. Hyperlipidemia was induced in rat by feeding high-fat diet (HFD) for 6 weeks then the serum lipid profile was observed. In experiment, the isolated Langendorff rat heart preparation was subjected to 4 cycles of ischemic preconditioning (IPC), then 30 min of ischemia followed by 120 min of reperfusion. Myocardial infarct size was elaborated morphologically by triphenyltetrazolium chloride (TTC) staining and biochemically by lactate dehydrogenase (LDH) and creatine kinase-MB (CK-MB) release from coronary effluent and left ventricular collagen content. However, the effect of zinc supplement, i.e., zinc pyrithione (10 μM) perfused during reperfusion for 120 min, significantly abrogated the attenuated cardioprotective effect of ischemic preconditioning in hyperlipidemic rat heart whereas administration of chelator of this zinc ionophore, i.e., N,N,N',N'-tetrakis(2-pyridylmethyl)ethylene diamine (TPEN; 10 μM), perfused during reperfusion 2 min before the perfusion of zinc pyrithione abrogated the cardioprotective effect of zinc supplement during experiment in hyperlipidemic rat heart. Thus, the administration of zinc supplements limits the infarct size, LDH, and CK-MB and enhanced the collagen level which suggests that the attenuated cardioprotective effect of IPC in hyperlipidemic rat is due to zinc loss during reperfusion caused by ischemia/reperfusion.

  2. The influence of statin therapy on platelet activity markers in hyperlipidemic patients after ischemic stroke

    Science.gov (United States)

    Chmielewski, Henryk; Kaczorowska, Beata; Przybyła, Monika; Baj, Zbigniew

    2015-01-01

    Introduction Low-density lipoprotein cholesterol (LDL-C) has been reported to increase platelet activation. Reducing the level of LDL-C with statins induces important pleiotropic effects such as platelet inhibition. This association between platelet activity and statin therapy may be clinically important in reducing the risk of ischemic stroke. We investigated the effect of simvastatin therapy on platelet activation markers (platelet CD62P, sP-selectin, and platelet-derived microparticles (PDMPs)) in hyperlipidemic patients after ischemic stroke. Material and methods The study group consisted of 21 hyperlipidemic patients after ischemic stroke confirmed by CT, and 20 healthy subjects served as controls. We assessed the CD62P expression on resting and thrombin-activated blood platelets. CD62P and PDMPs were analyzed by the use of monoclonal antibodies anti-CD61 and anti-CD62 on a flow cytometer. The level of sP-selectin in serum was measured by the ELISA (enzyme-linked immunosorbent assay) method. All markers were re-analyzed after 6 months of treatment with simvastatin (20 mg/day). Results Hyperlipidemic patients presented a significantly higher percentage of CD62+ platelets and higher reactivity to thrombin compared to control subjects. After simvastatin therapy hyperlipidemic patients showed a reduction of the percentage of resting CD62P(+) platelets (p = 0.005) and a reduction of expression and percentage of CD62P(+) platelets after activation by thrombin (median p < 0.05; percentage: p = 0.001). A decrease of sP-selectin levels (p = 0.001) and percentage of PDMPs (p < 0.05) in this group was also observed. Conclusions HMG-CoA reductase inhibitor therapy in stroke patients with hyperlipidemia may be useful not only due to the lipid-lowering effect but also because of a significant role in reduction of platelet activation and reactivity. PMID:25861297

  3. Eicosapentaenoic Acid Supplementation Changes Fatty Acid Composition and Corrects Endothelial Dysfunction in Hyperlipidemic Patients

    Science.gov (United States)

    Yamakawa, Ken; Shimabukuro, Michio; Higa, Namio; Asahi, Tomohiro; Ohba, Kageyuki; Arasaki, Osamu; Higa, Moritake; Oshiro, Yoshito; Yoshida, Hisashi; Higa, Tohru; Saito, Taro; Ueda, Shinichiro; Masuzaki, Hiroaki; Sata, Masataka

    2012-01-01

    We investigated the effects of purified eicosapentaenoic acid (EPA) on vascular endothelial function and free fatty acid composition in Japanese hyperlipidemic subjects. In subjects with hyperlipidemia (total cholesterol ≥220 mg/dL and/or triglycerides ≥150 mg/dL), lipid profile and forearm blood flow (FBF) during reactive hyperemia were determined before and 3 months after supplementation with 1800 mg/day EPA. Peak FBF during reactive hyperemia was lower in the hyperlipidemic group than the normolipidemic group. EPA supplementation did not change serum levels of total, HDL, or LDL cholesterol, apolipoproteins, remnant-like particle (RLP) cholesterol, RLP triglycerides, or malondialdehyde-modified LDL cholesterol. EPA supplementation did not change total free fatty acid levels in serum, but changed the fatty acid composition, with increased EPA and decreased linoleic acid, γ-linolenic acid, and dihomo-γ-linolenic acid. EPA supplementation recovered peak FBF after 3 months. Peak FBF recovery was correlated positively with EPA and EPA/arachidonic acid levels and correlated inversely with dihomo-γ-linolenic acid. EPA supplementation restores endothelium-dependent vasodilatation in hyperlipidemic patients despite having no effect on serum cholesterol and triglyceride patterns. These results suggest that EPA supplementation may improve vascular function at least partly via changes in fatty acid composition. PMID:23326753

  4. Eicosapentaenoic Acid Supplementation Changes Fatty Acid Composition and Corrects Endothelial Dysfunction in Hyperlipidemic Patients

    Directory of Open Access Journals (Sweden)

    Ken Yamakawa

    2012-01-01

    Full Text Available We investigated the effects of purified eicosapentaenoic acid (EPA on vascular endothelial function and free fatty acid composition in Japanese hyperlipidemic subjects. In subjects with hyperlipidemia (total cholesterol ≥220 mg/dL and/or triglycerides ≥150 mg/dL, lipid profile and forearm blood flow (FBF during reactive hyperemia were determined before and 3 months after supplementation with 1800 mg/day EPA. Peak FBF during reactive hyperemia was lower in the hyperlipidemic group than the normolipidemic group. EPA supplementation did not change serum levels of total, HDL, or LDL cholesterol, apolipoproteins, remnant-like particle (RLP cholesterol, RLP triglycerides, or malondialdehyde-modified LDL cholesterol. EPA supplementation did not change total free fatty acid levels in serum, but changed the fatty acid composition, with increased EPA and decreased linoleic acid, γ-linolenic acid, and dihomo-γ-linolenic acid. EPA supplementation recovered peak FBF after 3 months. Peak FBF recovery was correlated positively with EPA and EPA/arachidonic acid levels and correlated inversely with dihomo-γ-linolenic acid. EPA supplementation restores endothelium-dependent vasodilatation in hyperlipidemic patients despite having no effect on serum cholesterol and triglyceride patterns. These results suggest that EPA supplementation may improve vascular function at least partly via changes in fatty acid composition.

  5. Effect of Ambrex (a herbal formulation) on hematological variables in hyperlipidemic rats.

    Science.gov (United States)

    Devi, Jamuna; Rajkumar, Johanna

    2014-05-01

    Cardiovascular and related disorders are one of the most common disease prevailing all over the world. Hyperlipidemic condition have been largely considered in the treatment of cardiovascular diseases. The present study was carried out to investigate the effect of Ambrex on hematological factors in hyperlipidemic rats and untreated hyperlipidemic rats. In this study, eighteen rats were randomly divided into three groups of six animals each. The groups received normal diet (Control Group A) high fat diet (HFD group B) and Ambrex treatment (Group C). After the study period, White Blood Cell (WBC), Red Blood Cell (RBC), hematocrit (HCT), Hemoglobin, platelet (PLT), lymphocytes, monocytes, granulocytes, Mean Corpuscular Hemoglobin Concentration (MCHC), plateletcrit (PCT), Mean Corpuscular Volume (MCV), Platelet Distribution Width (PDW), red cell distribution-standard deviation (RDW-SD), red cell distribution-correlation variance (RDW-CV), micro red blood cell (pRBC), macroRBC were measured using digital cell counter (MS9-3s). Hyperlipidemia increases markedly the PLT count. Administration of Ambrex appeared to significantly increase WBC, Lymphocytes, granulocytes. However, erythrocyte indices does not show statistically significant variations among the test groups and control groups. The findings demonstrated that Ambrex does not cause any significant undesirable alterations in hematological factors in male rats. Ambrex also enhances white blood cell concentration and lymphocytes which probably stimulate the immune defense mechanism.

  6. New in vitro effects of clopidogrel on platelets in hyperlipidemic and healthy subjects

    Directory of Open Access Journals (Sweden)

    Derya Özsavcı

    2010-06-01

    Full Text Available Objective: We aimed to detect novel in vitro effects of clopidogrel on platelets by assessment of the following parameters: malondialdehyde, glutathione, nitrite, aggregation response, and expressions of P-selectin, fibrinogen, apolipoprotein A1, apolipoprotein B, and phosphatidylserine.Materials and Methods: Platelets were obtained from healthy (n: 9 and hyperlipidemic (n: 9 volunteers. Expressions of P-selectin, fibrinogen, apolipoproteins A1/B and phosphatidylserine with and without clopidogrel were assayed by flow cytometry. Malondialdehyde, glutathione, aggregation and nitrite levels were also assayed. Results: Without clopidogrel, the baseline values of platelet aggregation, malondialdehyde, and expressions of P-selectin, fibrinogen and phosphatidylserine were significantly higher, whereas nitrite and expression of apolipoproteins A1/B were significantly lower in hyperlipidemics than in the healthy group. In both groups, clopidogrel significantly reduced aggregation and expression of fibrinogen, but it elevated nitrite levels. Clopidogrel significantly decreased P-selectin and phosphatidylserine expression and malondialdehyde but increased expressions of apolipoproteins A1/B only in hyperlipidemics. Conclusion: It seems that clopidogrel has some new in vitro antiplatelet effects. The present study is a basic in vitro study to suggest new insights into the effects of clopidogrel on platelet functions.

  7. Combined effects of niacin and chromium treatment on heart of hyperlipidemic rats.

    Science.gov (United States)

    Döger, M Mutluhan; Sokmen, Bahar B; Yanardag, Refiye

    2011-10-01

    The present study was undertaken to investigate the effects of the combination of niacin and chromium(III)-chloride on heart glutathione (GSH), lipid peroxidation (LPO) levels, serum paraoxonase (PON), gamma-glutamyl transferase (GGT) activities and protein carbonyl contents (PCC) of hyperlipidemic rats. In this study, female Swiss albino rats were used. They were divided into four groups. The animals of the first group (group I) were fed with pellet chow. The rats (group II) were fed with a lipogenic diet consisting of 2% cholesterol, 0.5% cholic acid and 20% sunflower oil added to the pellet chow, and given 3% alcoholic water for 60 days. The rats (group III) were fed with the same lipogenic diet and treated by gavage technique with CrCl(3) 6H(2)O to a dose of 250 µg/kg and 100 mg/kg niacin for 45 days, 15 days after experimental animals were done hyperlipidemic. Group IV was fed with pellet chow and treated with 250 µg/kg CrCl(3) 6H(2)O and 100 mg/kg niacin for 45 days. On the 60th day, the heart tissue and blood samples were taken from animals. As a result, heart LPO, serum GGT activity and serum PCC were increased; serum PON activity and heart GSH levels were decreased in hyperlipidemic rats. Treatment with combined niacin and chromium reversed these effects. In conclusion, the combined treatment with niacin and chromium might induce a protective effect on heart tissue.

  8. Effect of Ethanolic Extract of Emblica officinalis on Histopathology of Kidney and on Biochemical Parameters in Hyperlipidemic Albino Rats

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    Bheemshetty S. Patil

    2015-01-01

    Full Text Available Background: It has been reported that hyperlipidemia plays a central role in the development of atherosclerosis and oxidative stress. Embilica officinalis also known as Amla or Indian Gooseberry acts as antihyperlipidemic and antioxidant. Its active ingredients contains tannins, gallic acid and flavonoids. Aim & Objectives: It was aimed to evaluate the effect of ethanolic extract of Emblica officinalis on histopathology of kidney and on biochemical parameters in hyperlipidemic albino Wistar rats. Material and Methods: Extraction of dried fruits of Emblica officinalis was done by Soxhlet apparatus 0 using 99% ethanol at 60 C for 24 hours and also phytochemical analysis was done. Group I served as normal control. Group II was fed with isocaloric diet. Group III was fed with hyperlipidemic diet. Group IV was fed with isocaloric diet for 21 days + Embilica officinalis for 21 days. Group V was fed with hyperlipidemic diet for 21 days+ Embilica officinalis for 21 days. The dose of ethanolic extract of Emblica officinalis was taken as 100mg/kg body weight daily. Results: Percent body weight gain, kidney weight and nephro-somatic index significantly improved in hyperlipidemic rats treated with Emblica officinalis. There was a significant improvement in serum electrolyte and kidney markers. It was found that there were focal glomerular lesions with thickening of glomerulus in the kidneys of rats on hyperlipidemic diet and normal renal histology of rats on hyperlipidemic diet treated with Emblica officinalis. Conclusion: It can be concluded that Emblica officinalis may be a good, natural therapeutic agent against hyperlipidemic diet induced oxidative damage and nephrotoxicity.

  9. Effects of astaxanthin on blood coagulation, fibrinolysis and platelet aggregation in hyperlipidemic rats.

    Science.gov (United States)

    Deng, Zu-Yue; Shan, Wei-Guang; Wang, Shen-Feng; Hu, Meng-Mei; Chen, Yan

    2017-12-01

    Astaxanthin (ASTX) is a xanthophyll carotenoid that reduces hemostasis in hyperlipidemic organisms. Its antihemostatic mechanisms remain unclear. The effects of ASTX on coagulation, the fibrinolytic system and platelet aggregation were investigated in hyperlipidemic rats. Different doses of ASTX (5, 10 and 30 mg/kg/day, p.o.) were administered for four weeks to high-fat diet-induced hyperlipidemic rats. Serum lipid and lipoprotein levels were measured with an automatic biochemical analyzer. The prothrombin time (PT), activated partial thromboplastin time (APTT) and maximum platelet aggregation rate (MAR) were determined by a coagulation analyzer. The activities of the tissue-type plasminogen activator (t-PA), type-1 plasminogen activator inhibitor (PAI-1) and endothelial nitric oxide synthase (eNOS), as well as the levels of thromboxane B(2) [TXB(2)], 6-keto prostaglandin F(1α) [6-keto-PGF(1α)] and platelet granule membrane protein (GMP-140), were measured with enzyme-linked immunosorbent assay kits. Gene and protein expression levels were analyzed by reverse transcriptase polymerase chain reaction and Western blot, respectively. ASTX (30 mg/kg) treatment in hyperlipidemic rats reduced serum TG (0.58 ± 0.14 versus 1.12 ± 0.24 mmol/L), serum TC (1.77 ± 0.22 versus 2.24 ± 0.21 mmol/L), serum LDL-C (1.13 ± 0.32 versus 2.04 ± 0.48 mmol/L), serum MDA (69%), plasma MAR (55%), serum TXB2/6-keto-PGF1α (34%) and serum GMP-140 levels (25%), plasma PAI-1 activity (48%) and downregulated the mRNA (33%) and protein (23%) expression of aorta eNOS, the mRNA (79%) and protein (72%) expression levels of aorta PAI-1. However, ASTX (30 mg/kg/d) treatment increased serum SOD activity (2.1 fold), serum GPx activity (1.8 fold), plasma PT (1.3 fold), plasma APTT (1.7 fold), serum NO (1.4-fold), serum 6-keto-PGF1α (1.3 fold). ASTX reduced blood coagulation and platelet aggregation and promoted fibrinolytic activity in hyperlipidemic rats

  10. Assessing the heritability of attentional networks

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    Fossella John A

    2001-09-01

    Full Text Available Abstract Background Current efforts to study the genetics of higher functions have been lacking appropriate phenotypes to describe cognition. One of the problems is that many cognitive concepts for which there is a single word (e.g. attention have been shown to be related to several anatomical networks. Recently we have developed an Attention Network Test (ANT that provides a separate measure for each of three anatomically defined attention networks. In this small scale study, we ran 26 pairs of MZ and DZ twins in an effort to determine if any of these networks show sufficient evidence of heritability to warrant further exploration of their genetic basis. Results The efficiency of the executive attention network, that mediates stimulus and response conflict, shows sufficient heritability to warrant further study. Alerting and overall reaction time show some evidence for heritability and in our study the orienting network shows no evidence of heritability. Conclusions These results suggest that genetic variation contributes to normal individual differences in higher order executive attention involving dopamine rich frontal areas including the anterior cingulate. At least the executive portion of the ANT may serve as a valid endophenotype for larger twin studies and subsequent molecular genetic analysis in normal subject populations.

  11. Sex differences in heritability of neck Pain

    DEFF Research Database (Denmark)

    Fejer, René; Hartvigsen, Jan; Kyvik, Kirsten Ohm

    2006-01-01

    Experimental studies have suggested biological factors as a possible explanation for gender disparities in perception of pain. Recently, heritability of liability to neck pain (NP) has been found to be statistically significantly larger in women compared to men. However, no studies have been cond...

  12. Antihyperlipidemic and antiatherogenic activities of Terminalia pallida Linn. fruits in high fat diet-induced hyperlipidemic rats

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    M T Sampathkumar

    2011-01-01

    Full Text Available Hyperlipidemia contributes significantly in the manifestation and development of atherosclerosis and coronary heart disease (CHD. Although synthetic lipid-lowering drugs are useful in treating hyperlipidemia, there are number of adverse effects. So the current interest has stimulated the search for new lipid-lowering agents with minimal side effects from natural sources. The present study was designed to investigate the antihyperlipidemic and antiatherogenic potentiality of ethanolic extract of Terminalia pallida fruits in high fat diet-induced hyperlipidemic rats. T. pallida fruits ethanolic extract (TPEt was prepared using Soxhlet apparatus. Sprague-Dawley male rats were made hyperlipidemic by giving high fat diet, supplied by NIN (National Institute of Nutrition, Hyderabad, India. TPEt was administered in a dose of 100 mg/kg.b.w./day for 30 days in high fat diet-induced hyperlipidemic rats. The body weights, plasma lipid, and lipoprotein levels were measured before and after the treatment. TPEt showed significant antihyperlipidemic and antiatherogenic activities as evidenced by significant decrease in plasma total cholesterol, triglycerides, low-density lipoprotein cholesterol, and very low-density lipoprotein cholesterol levels coupled together with elevation of high-density lipoprotein cholesterol levels and diminution of atherogenic index in high fat diet-induced hyperlipidemic rats. There was a significantly reduced body weight gain in TPEt-treated hyperlipidemic rats than in the control group. The present study demonstrates that TPEt possesses significant antihyperlipidemic and antiatherogenic properties, thus suggesting its beneficial effect in the treatment of cardiovascular diseases.

  13. SNP based heritability estimation using a Bayesian approach

    DEFF Research Database (Denmark)

    Krag, Kristian; Janss, Luc; Mahdi Shariati, Mohammad;

    2013-01-01

    Heritability is a central element in quantitative genetics. New molecular markers to assess genetic variance and heritability are continually under development. The availability of molecular single nucleotide polymorphism (SNP) markers can be applied for estimation of variance components and heri......Heritability is a central element in quantitative genetics. New molecular markers to assess genetic variance and heritability are continually under development. The availability of molecular single nucleotide polymorphism (SNP) markers can be applied for estimation of variance components...

  14. Neuroprotective effects of pretreatment with quercetin as assessed by acetylcholinesterase assay and behavioral testing in poloxamer-407 induced hyperlipidemic rats.

    Science.gov (United States)

    Braun, Josiane B S; Ruchel, Jader B; Adefegha, Stephen A; Coelho, Ana Paula V; Trelles, Kelly B; Signor, Cristiane; Rubin, Maribel A; Oliveira, Juliana S; Dornelles, Guilherme L; de Andrade, Cinthia M; Castilhos, Lívia G; Leal, Daniela B R

    2017-04-01

    Hyperlipidemia is a group of disorders characterized by excessive lipids in the bloodstream. It is associated with the incidence of cardiovascular diseases and recognized as the most important factor underlying the occurrence of atherosclerosis. This study was conducted to investigate whether pretreatment with quercetin can protect against possible memory impairment and deterioration of the cholinergic system in hyperlipidemic rats. Animals were divided into ten groups (n=7): saline/control, saline/quercetin 5mg/kg, saline/quercetin 25mg/kg, saline/quercetin 50mg/kg, saline/simvastatin (0.04mg/kg), hyperlipidemia, hyperlipidemia/quercetin 5mg/kg, hyperlipidemia/quercetin 25mg/kg, hyperlipidemia/quercetin 50mg/kg and hyperlipidemia/simvastatin. The animals were pretreated with quercetin by oral gavage for a period of 30days and hyperlipidemia was subsequently induced by intraperitoneal administration of a single dose of 500mg/kg of poloxamer-407. Simvastatin was administered after the induction of hyperlipidemia. The results demonstrated that hyperlipidemic rats had memory impairment compared with the saline control group (P<0.001). However, pretreatment with quercetin and simvastatin treatment attenuated the damage caused by hyperlipidemia compared with the hyperlipidemic group (P<0.05). Acetylcholinesterase (AChE) activity in the cerebral hippocampus was significantly (P<0.001) reduced in the hyperlipidemic group compared with the control saline group. Pretreatment with quercetin and simvastatin treatment in the hyperlipidemic groups significantly (P<0.05) increased AChE activity compared with the hyperlipidemic group. Our results thus suggest that quercetin may prevent memory impairment, alter lipid metabolism, and modulate AChE activity in an experimental model of hyperlipidemia.

  15. Hypolipidemic Effects of Alkaloids from Rhizoma Coptidis in Diet-Induced Hyperlipidemic Hamsters.

    Science.gov (United States)

    He, Kai; Kou, Shuming; Zou, Zongyao; Hu, Yinran; Feng, Min; Han, Bing; Li, Xuegang; Ye, Xiaoli

    2016-05-01

    This study was conducted to evaluate the antihyperlipidemic activity of five major alkaloids in Rhizoma Coptidis using high-fat- and high-cholesterol-induced hyperlipidemic hamsters. Hyperlipidemic hamsters were treated with coptisine, berberine, jatrorrhizine, palmatine, epiberberine, and total Rhizoma Coptidis alkaloids with a dose of 46.7 mg/kg × day for 140 days. Serum total cholesterol, triglyceride, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and total bile acids were examined after alkaloid treatment. The results showed that all therapy agents prevented body weight gain, reduced the serum total cholesterol, and increased the high-density lipoprotein cholesterol of hamsters. Berberine, jatrorrhizine, and total Rhizoma Coptidis alkaloids decreased the triglyceride level in hyperlipidemic hamsters, while coptisine, jatrorrhizine, palmatine, and total Rhizoma Coptidis alkaloids significantly suppressed the elevation of the low-density lipoprotein cholesterol level. The fecal excretion of bile acids was significantly elevated by berberine, coptisine, jatrorrhizine, palmatine, total Rhizoma Coptidis alkaloids, and orlistat. Notably, total Rhizoma Coptidis alkaloids possess a much stronger lipid-lowering effect than the pure Rhizoma Coptidis alkaloids. Quantitative reverse transcription-polymerase chain reaction analyses revealed that Rhizoma Coptidis alkaloids could retard the synthesis of cholesterol by downregulating the mRNA expression of 3-hydroxy-3-methyl glutaryl coenzyme A reductase and accelerate the clearance of lipids by upregulating the low-density lipoprotein receptor, cholesterol 7α-hydroxylase, and uncoupling protein-2 expression. These findings highlight the critical role of Rhizoma Coptidis alkaloids in hyperlipidemia treatment. Thus, they need to be considered in future therapeutic approaches.

  16. Beneficial effects of combined administration of sodium molybdate with atorvastatin in hyperlipidemic hamsters.

    Science.gov (United States)

    Ahmed, A A

    2009-04-01

    This study aims to evaluate the benefit of combined administration of sodium molybdate with atorvastatin in management of hyperlipidemia. Hyperlipidemic male Serian golden hamsters were administered either atorvastatin (40 or 80 mg/kg, p.o.) sodium molybdate (100 mg/kg, p.o.) or combination of atorvastatin (40 mg/kg, p.o.) with sodium molybdate (100 mg/kg, p.o.) for 30 consecutive days. Blood lipids (total cholesterol, triglycerides, HDL-cholesterol, Non-HDL-cholesterol and anti-atherogenic index) in addition to the activities of liver transaminases (AST, ALT), as well as antioxidant status (lipid peroxidation, catalase, glutathione peroxidase) were estimated before and after 15 and 30 days of treatment. The results indicate that atorvastatin is effective in lowering the blood lipids with maximum effect achieved by the high dose (80 mg/kg, p.o.). However, this dose elevates the liver enzymes significantly after 15 and 30 days of treatment. Sodium molybdate lowers the blood lipids after 30 days from treatment without alteration in liver enzymes. Moreover, in this group, lipid peroxides were significantly reduced and activities of catalase as well as glutathione peroxidase were significantly elevated compared with the hyperlipidemic control group (saline). Combination of atorvastatin (40 mg/kg, p.o.) with sodium molybdate significantly reduced the elevated blood lipids in a similar degree as the high dose of atorvastatin. Meanwhile, in this group, the liver enzymes were not significantly elevated while, the antioxidants profile were significantly improved compared with that of control hyperlipidemic and atorvastatin groups. In conclusion, combination of sodium molybdate with atorvastatin is beneficial in management of hyperlipidemia as it allows maximum reduction in blood lipids, improves the antioxidant status with minimal disturbances in liver enzymes.

  17. Daily egg consumption in hyperlipidemic adults - Effects on endothelial function and cardiovascular risk

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    Gonzalez-Simon Anjelica L

    2010-07-01

    Full Text Available Abstract Background Limiting consumption of eggs, which are high in cholesterol, is generally recommended to reduce risk of cardiovascular disease. However, recent evidence suggests that dietary cholesterol has limited influence on serum cholesterol or cardiac risk. Objective To assess the effects of egg consumption on endothelial function and serum lipids in hyperlipidemic adults. Methods Randomized, placebo-controlled crossover trial of 40 hyperlipidemic adults (24 women, 16 men; average age = 59.9 ± 9.6 years; weight = 76.3 ± 21.8 kilograms; total cholesterol = 244 ± 24 mg/dL. In the acute phase, participants were randomly assigned to one of the two sequences of a single dose of three medium hardboiled eggs and a sausage/cheese breakfast sandwich. In the sustained phase, participants were then randomly assigned to one of the two sequences of two medium hardboiled eggs and 1/2 cup of egg substitute daily for six weeks. Each treatment assignment was separated by a four-week washout period. Outcome measures of interest were endothelial function measured as flow mediated dilatation (FMD and lipid panel. Results Single dose egg consumption had no effects on endothelial function as compared to sausage/cheese (0.4 ± 1.9 vs. 0.4 ± 2.4%; p = 0.99. Daily consumption of egg substitute for 6 weeks significantly improved endothelial function as compared to egg (1.0 ± 1.2% vs. -0.1 ± 1.5%; p p p = 0.01. Study results (positive or negative are expressed in terms of change relative to baseline. Conclusions Egg consumption was found to be non-detrimental to endothelial function and serum lipids in hyperlipidemic adults, while egg substitute consumption was beneficial.

  18. Heritability in the genomics era--concepts and misconceptions.

    Science.gov (United States)

    Visscher, Peter M; Hill, William G; Wray, Naomi R

    2008-04-01

    Heritability allows a comparison of the relative importance of genes and environment to the variation of traits within and across populations. The concept of heritability and its definition as an estimable, dimensionless population parameter was introduced by Sewall Wright and Ronald Fisher nearly a century ago. Despite continuous misunderstandings and controversies over its use and application, heritability remains key to the response to selection in evolutionary biology and agriculture, and to the prediction of disease risk in medicine. Recent reports of substantial heritability for gene expression and new estimation methods using marker data highlight the relevance of heritability in the genomics era.

  19. Potential Pitfalls in Estimating Viral Load Heritability.

    Science.gov (United States)

    Leventhal, Gabriel E; Bonhoeffer, Sebastian

    2016-09-01

    In HIV patients, the set-point viral load (SPVL) is the most widely used predictor of disease severity. Yet SPVL varies over several orders of magnitude between patients. The heritability of SPVL quantifies how much of the variation in SPVL is due to transmissible viral genetics. There is currently no clear consensus on the value of SPVL heritability, as multiple studies have reported apparently discrepant estimates. Here we illustrate that the discrepancies in estimates are most likely due to differences in the estimation methods, rather than the study populations. Importantly, phylogenetic estimates run the risk of being strongly confounded by unrealistic model assumptions. Care must be taken when interpreting and comparing the different estimates to each other.

  20. Novel molecular therapies for heritable skin disorders.

    Science.gov (United States)

    Uitto, Jouni; Christiano, Angela M; McLean, W H Irwin; McGrath, John A

    2012-03-01

    Tremendous progress has been made in the past two decades in molecular genetics of heritable skin diseases, and pathogenic mutations have been identified in as many as 500 distinct human genes. This progress has resulted in improved diagnosis with prognostic implications, has refined genetic counseling, and has formed the basis for prenatal and presymptomatic testing and preimplantation genetic diagnosis. However, there has been relatively little progress in developing effective and specific treatments for these often devastating diseases. However, very recently, a number of novel molecular strategies, including gene therapy, cell-based approaches, and protein replacement therapy, have been explored for the treatment of these conditions. This overview will focus on the prototypic heritable blistering disorders, epidermolysis bullosa, and related keratinopathies, in which significant progress has been made recently toward treatment, and it will illustrate how some of the translational research therapies have already entered the clinical arena.

  1. The heritability of leucocyte telomere length dynamics

    DEFF Research Database (Denmark)

    Hjelmborg, Jacob B; Dalgård, Christine; Möller, Sören

    2015-01-01

    BACKGROUND: Leucocyte telomere length (LTL) is a complex trait associated with ageing and longevity. LTL dynamics are defined by LTL and its age-dependent attrition. Strong, but indirect evidence suggests that LTL at birth and its attrition during childhood largely explains interindividual LTL...... unique environmental factors, estimated at 72% (95% CI 56% to 84%) affected LTL attrition rate with no indication of shared environmental effects. CONCLUSIONS: This is the first study that estimated heritability of LTL and also its age-dependent attrition. As LTL attrition is much slower in adults than...... in children and given that having a long or a short LTL is largely determined before adulthood, our findings suggest that heritability and early life environment are the main determinants of LTL throughout the human life course. Thus, insights into factors that influence LTL at birth and its dynamics during...

  2. Food neophobia shows heritable variation in humans.

    Science.gov (United States)

    Knaapila, Antti; Tuorila, Hely; Silventoinen, Karri; Keskitalo, Kaisu; Kallela, Mikko; Wessman, Maija; Peltonen, Leena; Cherkas, Lynn F; Spector, Tim D; Perola, Markus

    2007-08-15

    Food neophobia refers to reluctance to eat unfamiliar foods. We determined the heritability of food neophobia in a family and a twin sample. The family sample consisted of 28 Finnish families (105 females, 50 males, aged 18-78 years, mean age 49 years) and the twin sample of 468 British female twin pairs (211 monozygous and 257 dizygous pairs, aged 17-82 years, mean age 55 years). Food neophobia was measured using the ten-item Food Neophobia Scale (FNS) questionnaire, and its internationally validated six-item modification. The heritability estimate for food neophobia was 69 and 66% in Finnish families (h(2)) and 67 and 66% in British female twins (a(2)+d(2)) using the ten- and six-item versions of the FNS, respectively. The results from both populations suggest that about two thirds of variation in food neophobia is genetically determined.

  3. Role of paraoxonase-1 in bone anabolic effects of parathyroid hormone in hyperlipidemic mice

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Jinxiu [Department of Physiology, University of California, Los Angeles (United States); Cheng, Henry [Department of Medicine, University of California, Los Angeles (United States); Atti, Elisa [Division of Diagnostic and Surgical Sciences, School of Dentistry, University of California, Los Angeles (United States); Shih, Diana M. [Department of Medicine, University of California, Los Angeles (United States); Demer, Linda L. [Department of Physiology, University of California, Los Angeles (United States); Department of Medicine, University of California, Los Angeles (United States); Department of Bioengineering, University of California, Los Angeles (United States); Tintut, Yin, E-mail: ytintut@mednet.ucla.edu [Department of Medicine, University of California, Los Angeles (United States)

    2013-02-01

    Highlights: ► Anabolic effects of PTH were tested in hyperlipidemic mice overexpressing PON1. ► Expression of antioxidant regulatory genes was induced in PON1 overexpression. ► Bone resorptive activity was reduced in PON1 overexpressing hyperlipidemic mice. ► PON1 restored responsiveness to intermittent PTH in bones of hyperlipidemic mice. -- Abstract: Hyperlipidemia blunts anabolic effects of intermittent parathyroid hormone (PTH) on cortical bone, and the responsiveness to PTH are restored in part by oral administration of the antioxidant ApoA-I mimetic peptide, D-4F. To evaluate the mechanism of this rescue, hyperlipidemic mice overexpressing the high-density lipoprotein-associated antioxidant enzyme, paraoxonase 1 (Ldlr{sup −/−}PON1{sup tg}) were generated, and daily PTH injections were administered to Ldlr{sup −/−}PON1{sup tg} and to littermate Ldlr{sup −/−} mice. Expression of bone regulatory genes was determined by realtime RT-qPCR, and cortical bone parameters of the femoral bones by micro-computed tomographic analyses. PTH-treated Ldlr{sup −/−}PON1{sup tg} mice had significantly greater expression of PTH receptor (PTH1R), activating transcription factor-4 (ATF4), and osteoprotegerin (OPG) in femoral cortical bone, as well as significantly greater cortical bone mineral content, thickness, and area in femoral diaphyses compared with untreated Ldlr{sup −/−}PON1{sup tg} mice. In contrast, in control mice (Ldlr{sup −/−}) without PON1 overexpression, PTH treatment did not induce these markers. Calvarial bone of PTH-treated Ldlr{sup −/−}PON1{sup tg} mice also had significantly greater expression of osteoblastic differentiation marker genes as well as BMP-2-target and Wnt-target genes. Untreated Ldlr{sup −/−}PON1{sup tg} mice had significantly greater expression of PTHR1 than untreated Ldlr{sup −/−} mice, whereas sclerostin expression was reduced. In femoral cortical bones, expression levels of transcription factors, Fox

  4. Hypolipidemic Activity of Spinacia Oleracea L. in Atherogenic Diet Induced Hyperlipidemic Rats.

    Directory of Open Access Journals (Sweden)

    Ranjan Kumar Giri

    2012-07-01

    Full Text Available Spinacia oleracea (spinach of family Amaranthaceae is an important plant used traditionally for medicinal purposes. Hyperlipidemia was induced by treated orally with atherogenic diet. In atherogenic diet induced hyperlipidemic model, the rats receiving Spinacia oleracea powder showed significant reduction in total cholesterol, triglycerides, total protein and elevation of high density lipoprotein cholesterol. Spinacia oleracea was found to possess significant hypolipidemic activity. The results also suggest that Spinacia oleracea powder at 200mg and 400 mg/kg b.wt. concentrations are an excellent lipid-lowering agent.

  5. Heritable change caused by transient transcription errors.

    Directory of Open Access Journals (Sweden)

    Alasdair J E Gordon

    2013-06-01

    Full Text Available Transmission of cellular identity relies on the faithful transfer of information from the mother to the daughter cell. This process includes accurate replication of the DNA, but also the correct propagation of regulatory programs responsible for cellular identity. Errors in DNA replication (mutations and protein conformation (prions can trigger stable phenotypic changes and cause human disease, yet the ability of transient transcriptional errors to produce heritable phenotypic change ('epimutations' remains an open question. Here, we demonstrate that transcriptional errors made specifically in the mRNA encoding a transcription factor can promote heritable phenotypic change by reprogramming a transcriptional network, without altering DNA. We have harnessed the classical bistable switch in the lac operon, a memory-module, to capture the consequences of transient transcription errors in living Escherichia coli cells. We engineered an error-prone transcription sequence (A9 run in the gene encoding the lac repressor and show that this 'slippery' sequence directly increases epigenetic switching, not mutation in the cell population. Therefore, one altered transcript within a multi-generational series of many error-free transcripts can cause long-term phenotypic consequences. Thus, like DNA mutations, transcriptional epimutations can instigate heritable changes that increase phenotypic diversity, which drives both evolution and disease.

  6. Cyclooxygenase-2 inhibition attenuates abdominal aortic aneurysm progression in hyperlipidemic mice.

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    Sarbani Ghoshal

    Full Text Available Abdominal aortic aneurysms (AAAs are a chronic inflammatory disease that increase the risk of life-threatening aortic rupture. In humans, AAAs have been characterized by increased expression of cyclooxygenase-2 and the inactivation of COX-2 prior to disease initiation reduces AAA incidence in a mouse model of the disease. The current study examined the effectiveness of selective cyclooxygenase-2 (COX-2 inhibition on reducing AAA progression when administered after the initiation of AAA formation. AAAs were induced in hyperlipidemic apolipoprotein E-deficient mice by chronic angiotensin II (AngII infusion and the effect of treatment with the COX-2 inhibitor celecoxib was examined when initiated at different stages of the disease. Celecoxib treatment that was started 1 week after initiating AngII infusion reduced AAA incidence by 61% and significantly decreased AAA severity. Mice treated with celecoxib also showed significantly reduced aortic rupture and mortality. Treatment with celecoxib that was started at a late stage of AAA development also significantly reduced AAA incidence and severity. Celecoxib treatment significantly increased smooth muscle alpha-actin expression in the abdominal aorta and did not reduce expression of markers of macrophage-dependent inflammation. These findings indicate that COX-2 inhibitor treatment initiated after formation of AngII-induced AAAs effectively reduces progression of the disease in hyperlipidemic mice.

  7. Effects of purified herbal extract of Salvia miltiorrhiza on lipid profile in hyperlipidemic patients

    Institute of Scientific and Technical Information of China (English)

    Zuchang Li; Ling Zhu; Bin Huang

    2009-01-01

    Background and Objective Hyperlipidemia is one of the most potent and best substantiated risk factors for coronary heart disease (CHD). Purified Salvia miltiorrhiza extract (PSME) had been shown to have hypolipidemic effect in animal experiments. This study aimed to evaluate its iipids modulating effects in hyperlipidemic patients. Methods In this single-blind, placebo controlled study, lipid profiles of 80 hyperlipidemic patients were checked at same conditions. They were divided into two equal groups randomly (each composing of 40 patients). They were given PSME tablet (800 mg) three times per day, or placebo tablet. All patients were put on NCEP type Ⅱ diet and six weeks later, lipid profiles were checked. Results In PSME group, total cholesterol decreased by 27.32 mg/dl (12.3% reduction), LDL-cholesterol decreased by 23.13 mg/dl (16.8% reduction) and HDL-cholesterol increased by 9.06 mg/dl (11.1%), all were statistically significant. Although triglyceride dropped by 12.12 mg/dl (5.1%) but this was not significant statistically (P=-0.34). There were no significant changes oflipids levels in the placebo group. Conclusions PSME has significant favorable effect on total cholesterol, LDL-cholesterol, and HDL-cholesterol and may be a potential agent for the treatment ofatherogenic dyslipidemia.

  8. Hemodiafiltration combined with resin-mediated absorption as a therapy for hyperlipidemic acute pancreatitis.

    Science.gov (United States)

    Li, Mao-qin; Shi, Zai-xiang; Xu, Ji-yuan; Lu, Bo; Li, Jia-qiong; Xu, Yan-jun; Wang, Xiao-Meng; Li, Song-mei; Mo, Xun

    2014-07-01

    The aim of this study is to investigate whether hemodiafiltration combined with resin-mediated absorption is a better therapy for hyperlipidemic acute pancreatitis. Patients (n = 67) with acute pancreatitis treated in ICU from January 2009 to December 2012 were included in this study. Seven of these 67 cases were diagnosed hyperlipidemic acute pancreatitis (HLAP). All the 7 HLAP patients went through fast, gastrointestinal decompression, anti-shock treatment, inhibition of pancreatic secretion, antiseptic treatments, and hemoperfusion (HP) combined with continuous veno venous hemodiafiltration (CVVHDF). After one round of treatment by resin adsorption, there was a significant decrease in serum triglycerides (TG) (29.78 %) and total cholesterol (TC) (24.02 %) levels (p < 0.01). TG and TC levels dropped by 49.02 and 37.66 %, respectively, after 1-day treatment of HP + CVVHDF; by 62.81 and 47.37 % on day 2 post-treatment; and by 69.57 and 49.47 % on day 3 post-treatment. All the 7 patients survived. The average time spent in the ICU was 7 ± 3.8 days, and the average duration of hospitalization was 19 ± 15.1 days. Our results show that hemoperfusion combined with hemodiafiltration is an efficient treatment as this approach can reduce plasma lipid levels effectively and reduce the risk of acute pancreatitis due to hyperlipidemia.

  9. Becoming-Animal in Asian Americas: Ruthanne Lum McCunn’s God of Luck and a Watanabean Triptych (Three Poems by José Watanabe

    Directory of Open Access Journals (Sweden)

    Michelle Har Kim

    2012-06-01

    Full Text Available Considering the implicit North American and Anglophone core of Asian American literature traditionally conceived, this essay discusses two examples of literatures of the Asian Americas. A narrative of a Chinese coolie’s heroic escape from a Peruvian guano mine, Ruthanne Lum McCunn’s novel God of Luck (2008 introduces a lesser-known point of view to the field: the nineteenth-century Chinese coolie in Peru. Rather than embrace the emblematic hero who accedes to voice, this essay attempts to read outside of an anticipated rubric of individual politico-economic repletion. In the poetry of Peruvian writer José Watanabe (1946–2007, motifs of animal encounter abound—yet dogs, fish, and other kinds of life are never deployed as a discrete metaphor through which we can see and know ourselves. As readers we are shifted to the edge of the world, in a “becoming-animal” that explores not the Asian American, but its restless morphing, illegibly human or otherwise.

  10. The effects of Corylus Avellana on serum lipid profile and oxidative stress in hyperlipidemic-diabetic rats

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    Emel Serdaroglu Kasikci

    2014-06-01

    Conclusions: Consumption of hazelnut at this dose (0.63% may improve oxidant-antioxidant balance in healthy and hyperlipidemic-diabetic status without increasing blood lipids. Keywords: Hazelnut, hyperlipidemia, diabetes, lipids, glutathione, lipid peroxidation. [Dis Mol Med 2014; 2(3.000: 45-50

  11. INVESTIGATION OF EFFECT OF MURRAYA KOENIGII ON BIOPHYSICAL AND BIOCHEMICAL PARAMETERS OF WOUND IN DIABETIC HYPERLIPIDEMIC WISTAR RATS

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    Vikram Kumar*, Angshu Bandyopadhyay and Vikram Sharma

    2012-06-01

    Full Text Available Plants have been used in traditional medicine for several thousand years. India is perhaps the largest producer of medicinal herbs and is rightly called the “Botanical garden of the World”. Murraya koenigii Linn. commonly known as Meethi neem, belongs to the family Rutaceae. The curry tree is native to India and it is found almost everywhere in the Indian subcontinent excluding the higher levels of Himalayas. The effect of Murraya koenigii leaves aqueous extract on biophysical and biochemical parameters of wound were studied by dead space wound model in diabetic hyperlipidemic rats. In dead space wound model, animals treated with Murraya koenigii (oral administration of variable dosage level 200mg/kg, 300mg/kg and 400mg/kg leaves aqueous extract showed significant increase in Wet & Dry granulations tissue weight (biophysical parameter and hydroxyprolin content (biochemical parameter when compared to the diabetic hyperlipidemic control group rats. In this study, very significant (p<0.001 result was found with 300mg/kg dose level because the effect was dose dependent up to 300mg equivalent of extract. The results suggested that aqueous extract of Murraya koenigii possess significant wound healing potential in diabetic hyperlipidemic rats. Further studies may reveal the exact mechanisms of action responsible for the wound healing activity of Murraya koenigii leaves aqueous extract in diabetic hyperlipidemic condition.

  12. Low heritability in pharmacokinetics of talinolol

    DEFF Research Database (Denmark)

    Matthaei, Johannes; Tzvetkov, Mladen V; Gal, Valerie;

    2016-01-01

    BACKGROUND: Efflux transporters like MDR1 and MRP2 may modulate the pharmacokinetics of about 50 % of all drugs. It is currently unknown how much of the variation in the activities of important drug membrane transporters like MDR1 or MRP2 is determined by genetic or by environmental factors....... In this study we assessed the heritability of the pharmacokinetics of talinolol as a putative probe drug for MDR1 and possibly other membrane transporters. METHODS: Talinolol pharmacokinetics were investigated in a repeated dose study in 42 monozygotic and 13 same-sex dizygotic twin pairs. The oral clearance...

  13. Heritability of cognitive functions in families with bipolar disorder.

    Science.gov (United States)

    Antila, Mervi; Tuulio-Henriksson, Annamari; Kieseppä, Tuula; Soronen, Pia; Palo, Outi M; Paunio, Tiina; Haukka, Jari; Partonen, Timo; Lönnqvist, Jouko

    2007-09-01

    Bipolar disorder is highly heritable. Cognitive dysfunctions often observed in bipolar patients and their unaffected relatives implicate that these impairments may be associated with genetic predisposition to bipolar disorder and thus fulfill the criteria of a valid endophenotype for the disorder. However, the most fundamental criterion, their heritability, has not been directly studied in any bipolar population. This population-based study estimated the heritability of cognitive functions in bipolar disorder. A comprehensive neuropsychological test battery and the Structured Clinical Interview for DSM-IV were administered to a population-based sample of 110 individuals from 52 families with bipolar disorder. Heritability of cognitive functions as assessed with neuropsychological test scores were estimated using the Solar package. Significant additive heritabilities were found in verbal ability, executive functioning, and psychomotor processing speed. Genetic contribution was low to verbal learning functions. High heritability, in executive functioning and psychomotor processing speed suggest that these may be valid endophenotypic traits for genetic studies of bipolar disorder.

  14. Beyond missing heritability: prediction of complex traits.

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    Robert Makowsky

    2011-04-01

    Full Text Available Despite rapid advances in genomic technology, our ability to account for phenotypic variation using genetic information remains limited for many traits. This has unfortunately resulted in limited application of genetic data towards preventive and personalized medicine, one of the primary impetuses of genome-wide association studies. Recently, a large proportion of the "missing heritability" for human height was statistically explained by modeling thousands of single nucleotide polymorphisms concurrently. However, it is currently unclear how gains in explained genetic variance will translate to the prediction of yet-to-be observed phenotypes. Using data from the Framingham Heart Study, we explore the genomic prediction of human height in training and validation samples while varying the statistical approach used, the number of SNPs included in the model, the validation scheme, and the number of subjects used to train the model. In our training datasets, we are able to explain a large proportion of the variation in height (h(2 up to 0.83, R(2 up to 0.96. However, the proportion of variance accounted for in validation samples is much smaller (ranging from 0.15 to 0.36 depending on the degree of familial information used in the training dataset. While such R(2 values vastly exceed what has been previously reported using a reduced number of pre-selected markers (<0.10, given the heritability of the trait (∼ 0.80, substantial room for improvement remains.

  15. Effects of kiwifruit consumption on serum lipid profiles and antioxidative status in hyperlipidemic subjects.

    Science.gov (United States)

    Chang, Wen-Hsin; Liu, Jen-Fang

    2009-12-01

    Cardiovascular disease (CVD) is the most important adult health problem in the world. Epidemiological studies and laboratory experiments have shown that fruit and vegetable consumption has protective effects against CVD. The purpose of the study was to investigate the effects of consumption of two kiwifruit per day on the lipid profile, antioxidants and markers of lipid peroxidation in hyperlipidemic adult men and women in Taiwan. Forty-three subjects who had hyperlipidemia, including 13 males and 30 females, participated in this study. They were asked to consume two kiwifruit per day for 8 weeks. Anthropometric measurements were made. Before the intervention and at 4 and 8 weeks of the intervention, fasting blood samples were analyzed for total cholesterol, triacylglycerol, low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein cholesterol (HDL-C). Additionally vitamin E and vitamin C, the malondialdehyde + 4-hydroxy-2(E)-nonenal concentration, and the lag time of LDL oxidation were determined. No significant differences from baseline to 8 weeks of the intervention were detected for triacylglycerol, total cholesterol, or LDL cholesterol. However, after 8 weeks of consumption of kiwifruit, the HDL-C concentration was significantly increased and the LDL cholesterol/HDL-C ratio and total cholesterol/HDL-C ratio were significantly decreased. Vitamin C and vitamin E also increased significantly. In addition, the lag time of LDL oxidation and malondialdehyde + 4-hydroxy-2(E)-nonenal had significantly changed at 4 and 8 weeks during the kiwifruit intervention. Regular consumption of kiwifruit might exert beneficial effects on the antioxidative status and the risk factors for CVD in hyperlipidemic subjects.

  16. Antihyperlipidemic activity of Cassia auriculata flowers in triton WR 1339 induced hyperlipidemic rats.

    Science.gov (United States)

    Vijayaraj, Panneerselvam; Muthukumar, Kannan; Sabarirajan, Jayaraja; Nachiappan, Vasanthi

    2013-01-01

    The flower extract of Cassia auriculata, herb has been used traditionally in India for medicinal purposes. The plant has been reported to treat hyperglycemia and associated hyperlipidemia. Hyperlipidemia and oxidative stress are known to accelerate coronary artery disease and progression of atherosclerotic lesions. The present work was undertaken to investigate the possible antihyperlipidemic and antioxidative effect of C. auriculata flower on hyperlipidemic rats. Hyperlipidemia was induced in rats by a single intravenous (iv) injection of Triton WR 1339 (300 mg/kg b.w.) and it showed sustained elevated levels of serum cholesterol and triglyceride. Ethanolic extract of C. auriculata flowers (Et-CAF) (150, 300, 450 mg/kg b.w./day) was administered to normal and hyperlipidemic rats for 14 days. Serum and liver tissue were analysed at three different time intervals for lipid profile, lipid peroxidation products, antioxidants enzymes and the activity were compared to the cholesterol-lowering drug, lovastatin (10 mg/kg/b.w.). Parameters were altered during hyperlipidemia and reverted back to near normal values after Et-CAF treatment or standard drug lovastatin. Lipid peroxidation decreased whereas the activities of superoxide dismutase, glutathione peroxidase and catalase increased in Et-CAF treated rats. Pronounced changes were observed at 450 mg/kg b.w. of Et-CAF for 2 weeks and it was comparable to the standard drug lovastatin. The current study provides a strong evidence that Et-CAF has a beneficial effect in treating hyperlipidemia and ROS without any side effects at the dosage and duration studied.

  17. Lipid lowering and antioxidant potential of Asparagus racemosus in hyperlipidemic rats

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    Rama R. Bhosale

    2012-06-01

    Full Text Available Background: Atherosclerosis is associated with hyperlipidemia which is a major risk factor for coronary artery disease. Therefore, treatment of hyperlipidemia is one of the major approaches to decrease the atherogenic process. Many studies revealed that Asparagus racemosus (AR possesses hypolipidemic and antioxidant potential, but results were not consistent. Therefore, the present study was undertaken to investigate lipid lowering and antioxidant potential of AR root powder in hyperlipidemic rats. Methods: Hyperlipidemia was induced in normal rats by including 0.75 gm% cholesterol and 1.5 gm% bile salt in normal diet and these rats were used for the experiments. Dried root powder of Asparagus racemosus was administered as feed supplement at 5 gm% and 10 gm% dose levels to the hyperlipidemic rats. Plasma lipid profile, malondialdehyde, ascorbic acid, catalase and superoxide dismutase were estimated using standard methods. Statistical analysis was done by one way analysis of variance (ANOVA. Results: Feed supplementation with 5 gm% and 10 gm% Asparagus racemosus resulted in a significant decrease in plasma cholesterol, LDL and significant increase in HDL. But there were no significant decrease in triglycerides and VLDL. The feed supplementation increased activities of catalase, superoxide dismutase and ascorbic acid content increased significantly in both the experimental groups (5 and 10 gm% supplemented groups. But there was no significant change in the concentration of malondialdehyde in these groups. Conclusions: The present study demonstrated that addition of Asparagus racemosus root powder at 5 gm% and 10 gm% level as feed supplement reduces the plasma lipid levels and also acts as an antioxidant. [Int J Basic Clin Pharmacol 2012; 1(3.000: 168-173

  18. Anti-hyperlipidemic and hypoglycemic effects of Gynostemma pentaphyllum in the Zucker fatty rat.

    Science.gov (United States)

    Megalli, Samer; Davies, Neal M; Roufogalis, Basil D

    2006-01-01

    Gynostemma pentaphyllum is a traditional Chinese medicine used for a variety of conditions, including elevated cholesterol. We have examined the pharmacological anti-hyperlipidemic and hypoglycemic effectiveness of Gynostemma pentaphyllum in the obese Zucker fatty diabetic rat model. After treatment for 4 days Gynostemma pentaphyllum 250 mg/kg reduced triglyceride (33%), total cholesterol, (13%) and low density lipoprotein cholesterol levels (33%). These effects were dose-dependent and maintained for at least 5 weeks. Chronic treatment for 3-5 weeks also reduced post-prandial hypertriglyceridemia induced by olive oil 10 mg/kg in the Zucker fatty rats but had no significant effect in lowering sucrose-induced hyperglycemia in Sprague-Dawley rats. A novel regulation by Gynostemma of glucose levels was also observed in the Zucker fatty rat model. In a glucose tolerance test in obese and lean Zucker rats pretreatment with Gynostemma pentaphyllum 250 mg/kg demonstrated glucose levels were significantly less 2 hours post challenge (20%) in the Gynostemma pentaphyllum obese rats compared to the control group. Gynostemma pentaphyllum did not significantly reduce glucose levels at 120 min in the lean strain, in contrast to the 20% decrease seen in the obese rat. In vitro, Gynostemma pentaphyllum inhibited alpha-glucosidase activity (50% inhibition at 42.8), which compared to acarbose (50% at 53.9 microg/mL). The improvement in glucose tolerance at 120 min by Gynostemma pentaphyllum in obese Zucker fatty rats but not lean rats suggests that it may improve insulin receptor sensitivity and together with the significant reduction of hypertriglyceridemia, cholesterol and low density lipoprotein cholesterol suggests that Gynostemma should be examined further by oral hypoglycemic/anti-hyperlipidemic therapy.

  19. N-Acetylneuraminic acid attenuates hypercoagulation on high fat diet-induced hyperlipidemic rats

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    Zhang Yida

    2015-12-01

    Full Text Available Background and objective: N-Acetylneuraminic acid (Neu5Ac, a type of sialic acid, has close links with cholesterol metabolism and is often used as a biomarker in evaluating the risk of cardiovascular diseases. However, most studies on the health implications of Neu5Ac have focused on its effects on the nervous system, while its effects on cardiovascular risk factors have largely been unreported. Thus, the effects of Neu5Ac on coagulation status in high fat diet (HFD-induced hyperlipidemic rats were evaluated in this study. Methods: Sprague Dawley male rats were divided into five different groups and fed with HFD alone, HFD low-dose Neu5Ac, HFD high-dose Neu5Ac, HFD simvastatin (10 mg/kg day, and normal pellet alone. Food was given ad libitum while body weight of rats was measured weekly. After 12 weeks of intervention, rats were sacrificed and serum and tissue samples were collected for biochemistry and gene expression analysis, respectively. Results: The results showed that Neu5Ac could improve lipid metabolism and hyperlipidemia-associated coagulation. Neu5Ac exerted comparable or sometimes better physiological effects than simvastatin, at biochemical and gene expression levels. Conclusions: The data indicated that Neu5Ac prevented HFD-induced hyperlipidemia and associated hypercoagulation in rats through regulation of lipid-related and coagulation-related genes and, by extension, induced metabolite and protein changes. The implications of the present findings are that Neu5Ac may be used to prevent coagulation-related cardiovascular events in hyperlipidemic conditions. These findings are worth studying further.

  20. Rosuvastatin and ellagic acid protect against isoproterenol-induced myocardial infarction in hyperlipidemic rats

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    Mai A. Elhemely

    2014-12-01

    Full Text Available Hyperlipidemia (HL with subsequent coronary atherosclerosis is the major trigger of ischemia and hence, myocardial infarction (MI occurs. The present study aimed to elucidate the effects of pretreatment with rosuvastatin and ellagic acid, as well as their combination on isoproterenol-induced MI in hyperlipidemic rats. Adult rats were fed with a cholesterol-rich diet for seven weeks and received rosuvastatin (10 mg/kg and/or ellagic acid (30 mg/kg by oral gavage daily starting from the fifth week then subcutaneously injected with two doses 24-h apart of 100 mg/kg isoproterenol in the last two days. ECG pattern was monitored and both cardiac biomarkers (cTnI, CK-MB, LDH and AST and lipid profile (TC, TG, HDL-c and LDL-c were measured in serum. MDA and GSH levels were quantified in cardiac homogenates and heart tissue damage was examined by histopathology. Furthermore, the expression levels of iNOS, eNOS, Bax and Bcl-2 in heart samples were assessed by western blotting. Three-week pretreatment with rosuvastatin and/or ellagic acid markedly ameliorated HL- and isoproterenol-induced alterations in ECG, cardiac markers, oxidation markers, lipid profile and heart architecture. Both drugs downregulated iNOS and upregulated eNOS, while only rosuvastatin and the combination downregulated Bax. This study provides evidence that rosuvastatin and ellagic acid possess cardioprotective effect on the hyperlipidemic-myocardial infarction rat model and the combination does not offer extra protection than monotherapy.

  1. Effect of low calorie diet with rice bran oil on cardiovascular risk factors in hyperlipidemic patients

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    Rosa Zavoshy

    2012-01-01

    Full Text Available Background: Cardiovascular disease remains the leading cause of death and disability in industrialized and developing countries. The aim of this research was to determine the effect of rice bran oil, with a low-calorie diet, on lipid profiles, in hyperlipidemic patients. Materials and Methods: This study was a parallel groups′ randomized clinical trial with a pre- and post-test design. Fifty hyperlipidemic patients of both sexes and age range of 25 - 65 years had participated. The patients received a low-calorie diet based on 1400 kcal energy, 17% protein, 26% fat, and 57% carbohydrate per day for four weeks. The treatment group received a low-calorie diet including rice bran oil (30 g / day. Blood samples were obtained after an overnight (12 hours fasting period before the study and on the last day of the intervention period. Anthropometric indices and levels of serum triacylglycerol, total cholesterol, low-density lipoprotein, and high-density lipoprotein were measured before and after the intervention. Results: In both groups, weight, body mass index, waist, and hip circumferences were significantly reduced (P < 0.05 after four weeks. In comparison with the control group, the results of treatment with rice bran oil, with a low-calorie diet, showed that at the end of the fourth week, total cholesterol, low-density lipoprotein, and atherogenic ratio of total cholesterol / high-density lipoprotein were significantly decreased (P < 0.05. Conclusions: The results confirm that rice bran oil, when consumed as part of a healthy diet, is effective in improving risk factors for cardiovascular disease.

  2. The regulation of alfalfa saponin extract on key genes involved in hepatic cholesterol metabolism in hyperlipidemic rats.

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    Yinghua Shi

    Full Text Available To investigate the cholesterol-lowering effects of alfalfa saponin extract (ASE and its regulation mechanism on some key genes involved in cholesterol metabolism, 40 healthy 7 weeks old male Sprague Dawley (SD rats were randomly divided into four groups with 10 rats in each group: control group, hyperlipidemic group, ASE treatment group, ASE prevention group. The body weight gain, relative liver weight and serum lipid 1evels of rats were determined. Total cholesterol (TC and total bile acids (TBA levels in liver and feces were also measured. Furthermore, the activity and mRNA expressions of Hmgcr, Acat2, Cyp7a1 and Ldlr were investigated. The results showed the following: (1 The abnormal serum lipid levels in hyperlipidemic rats were ameliorated by ASE administration (both ASE prevention group and treatment group (P<0.05. (2 Both ASE administration to hyperlipidemic rats significantly reduced liver TC and increased liver TBA level (P<0.05. TC and TBA levels in feces of hyperlipidemic rats were remarkably elevated by both ASE administration (P<0.05. (3 mRNA expressions of Hmgcr and Acat2 in the liver of hyperlipidemic rats were remarkably down-regulated (P<0.05, as well as mRNA expressions of Cyp7a1 and Ldlr were dramatically up-regulated by both ASE administration (P<0.05. The activities of these enzymes also paralleled the observed changes in mRNA levels. (4 There was no significant difference between ASE treatment and ASE prevention group for most parameters evaluated. Our present study indicated that ASE had cholesterol-lowering effects. The possible mechanism could be attributed to (1 the down-regulation of Hmgcr and Acat2, as well as up-regulation of Cyp7a1 and Ldlr in the liver of hyperlipidemic rats, which was involved in cholesterol biosynthesis, uptake, and efflux pathway; (2 the increase in excretion of cholesterol. The findings in our study suggested ASE had great potential usefulness as a natural agent for treating hyperlipidemia.

  3. Group differences in the heritability of items and test scores

    NARCIS (Netherlands)

    Wicherts, J.M.; Johnson, W.

    2009-01-01

    It is important to understand potential sources of group differences in the heritability of intelligence test scores. On the basis of a basic item response model we argue that heritabilities which are based on dichotomous item scores normally do not generalize from one sample to the next. If groups

  4. Heritable retinoblastoma and accelerated aortic valve disease

    Science.gov (United States)

    Abeyratne, L R; Kingston, J E; Onadim, Z; Dubrey, S W

    2013-01-01

    Heritable retinoblastoma is associated with a germline mutation in the tumour suppressor gene RBI. The Rb protein (pRb) arises from the RB1 gene, which was the first demonstrated cancer susceptibility gene in humans. 1 Second primary malignancies are recognised complications of retinoblastoma. Furthermore, pRb is implicated in valve remodelling in calcific aortic valve disease. 2 3 We report a family with hereditary retinoblastoma and associated secondary primary malignancies. There are two interesting aspects to this family. The first is the concept of ‘cancer susceptibility genes’; the RBI gene being the first reported in humans. A further feature of note is that two family members also have bicuspid aortic valves. We discuss a potential association between the gene defect responsible for retinoblastoma (with its associated propensity for further malignancies) and accelerated deterioration of the bicuspid aortic valve in the proband carrying this gene defect. PMID:23595191

  5. Heritable factors influence sexual orientation in women.

    Science.gov (United States)

    Bailey, J M; Pillard, R C; Neale, M C; Agyei, Y

    1993-03-01

    Homosexual female probands with monozygotic cotwins, dizygotic cotwins, or adoptive sisters were recruited using homophile publications. Sexual orientation of relatives was assessed either by asking relatives directly, or, when this was impossible, by asking the probands. Of the relatives whose sexual orientation could be confidently rated, 34 (48%) of 71 monozygotic cotwins, six (16%) of 37 dizygotic cotwins, and two (6%) of 35 adoptive sisters were homosexual. Probands also reported 10 (14%) nontwin biologic sisters to be homosexual, although those sisters were not contacted to confirm their orientations. Heritabilities were significant using a wide range of assumptions about both the base rate of homosexuality in the population and ascertainment bias. The likelihood that a monozygotic cotwin would also be homosexual was unrelated to measured characteristics of the proband such as self-reported history of childhood gender nonconformity. Concordant monozygotic twins reported similar levels of childhood gender nonconformity.

  6. Human somatic, germinal and heritable mutagenicity

    Energy Technology Data Exchange (ETDEWEB)

    Mendelsohn, M.L.

    1987-05-01

    This report deals with the general process of variant formation rather than with the consequences of a specific variant being present. It focusses on mutational mechanisms, mutagens, and the method for detecting de novo mutants and estimating mutation rate. It is to human genetics much like disease causation and prevention medicine are to medicine as a whole. The word ''mutagenicity'' is used in the title and throughout the text to connote the causation of all classes of genetic damage. Mutagenicity and the corresponding words mutation, mutagen and mutagenesis can have multiple meaning, sometimes relating to gene mutation, sometimes to heritable mutation, and somtimes to all types of genetic damage. 38 refs., 1 tab.

  7. Heritability of metoprolol and torsemide pharmacokinetics

    DEFF Research Database (Denmark)

    Matthaei, Johannes; Brockmöller, Jürgen; Tzvetkov, Mladen;

    2015-01-01

    Genetic variation in the pharmacokinetics of metoprolol and torsemide due to polymorphisms in CYP2D6, CYP2C9 and OATP1B1 has been extensively studied. However, it is still unknown how much of variation in pharmacokinetics of these two clinically important drugs in total is due to genetic factors....... Metoprolol and torsemide were intravenously administered to 44 monozygotic and 14 dizygotic twin pairs. Metoprolol AUC varied 4.7-fold and torsemide AUC 3.5-fold. A very high fraction of AUC variations, 91% of metoprolol and 86% of torsemide, were found to be due to additive genetic effects. However, known...... of the heritable variability in the pharmacokinetics of metoprolol and torsemide remains to be elucidated. This article is protected by copyright. All rights reserved....

  8. Familial aggregation and heritability of pyloric stenosis

    DEFF Research Database (Denmark)

    Krogh, Camilla; Fischer, Thea K; Skotte, Line;

    2010-01-01

    .1 for twins. The rate ratios of pyloric stenosis were 182 (95% confidence interval [CI], 70.7-467) for monozygotic twins, 29.4 (95% CI, 9.45-91.5) for dizygotic twins, 18.5 (95% CI, 13.7-25.1) for siblings, 4.99 (95% CI, 2.59-9.65) for half-siblings, 3.06 (95% CI, 2.10-4.44) for cousins, and 1.60 (95% CI, 0.......51-4.99) for half-cousins. We found no difference in rate ratios for maternal and paternal relatives of children with pyloric stenosis and no difference according to sex of cohort member or sex of relative. The heritability of pyloric stenosis was 87%. CONCLUSION: Pyloric stenosis in Danish children shows strong...

  9. Meat product based on porcine hearts and aortas ameliorates serum lipid profile and inflammation in hyperlipidemic rats

    Science.gov (United States)

    Chernukha, I. M.; Kotenkova, E. A.; Fedulova, L. V.

    2017-09-01

    The biological effect of porcine hearts and aortas in a hyperlipidemic rat model was confirmed. Porcine heart and aorta mixture in a 3:1 ratio was blended, canned and sterilized at 115°C and 0.23 Mpa for 40 min. Administration of experimental meat product to the animal model decreased total cholesterol, triglycerides and cholesterol low density lipoproteins by 31.8% (Plipid disorders or atherosclerosis.

  10. Comparison of Existing Clinical Scoring Systems in Predicting Severity and Prognoses of Hyperlipidemic Acute Pancreatitis in Chinese Patients

    OpenAIRE

    Qiu, Lei; Sun, Rui Qing; Jia, Rong Rong; Ma, Xiu Ying; Cheng, Li; Tang, Mao Chun; Zhao, Yan

    2015-01-01

    Abstract It is important to identify the severity of acute pancreatitis (AP) in the early course of the disease. Clinical scoring systems may be helpful to predict the prognosis of patients with early AP; however, few analysts have forecast the accuracy of scoring systems for the prognosis in hyperlipidemic acute pancreatitis (HLAP). The purpose of this study was to summarize the clinical characteristics of HLAP and compare the accuracy of conventional scoring systems in predicting the progno...

  11. Sulfuriferula thiophila sp. nov., a chemolithoautotrophic sulfur-oxidizing bacterium, and correction of the name Sulfuriferula plumbophilusWatanabe, Kojima and Fukui 2015 to Sulfuriferula plumbiphila corrig.

    Science.gov (United States)

    Watanabe, Tomohiro; Kojima, Hisaya; Fukui, Manabu

    2016-05-01

    A novel sulfur-oxidizing bacterium designated strain mst6T was isolated from spring water of Masutomi hot spring in Japan. The cells were rod-shaped (1.2-4.0 × 0.5-0.7 μm) and Gram-stain-negative. The G+C content of genomic DNA was around 52.6 mol%. The isolate possessed summed feature 3 (C16 : 1ω7c and/or C16 : 1ω6c), C16 : 0 and C12 : 0 as major cellular fatty acids. Strain mst6T grew by inorganic carbon fixation and oxidation of inorganic sulfur compounds with oxygen as an electron acceptor. The isolate grew over a temperature range of 5-34 °C, a NaCl concentration range of 0-110 mM and a pH range of 4.6-8.1. Optimum growth occurred at 32 °C, in the absence of NaCl and at pH 5.9-6.2. Phylogenetic analysis based on 16S rRNA gene sequences indicated that strain mst6T belongs to the family Sulfuricellaceae in the class Betaproteobacteria. The closest cultured relative was Sulfuriferula multivorans TTNT with a 16S rRNA gene sequence similarity of 97.0 %. On the basis of the data obtained in this study, strain mst6T represents a novel species of the genus Sulfuriferula, for which the name Sulfuriferula thiophila sp. nov. is proposed. The type strain is mst6T ( = NBRC 111150T = DSM 101871T). In addition, we propose correcting the name Sulfuriferula plumbophilus Watanabe, Kojima and Fukui 2015 to Sulfuriferula plumbiphila corrig. based on Rule 12c, Rule 61 and Appendix 9 of the International Code of Nomenclature of Prokaryotes.

  12. Estimating heritability from nuclear family and pedigree data.

    Science.gov (United States)

    Bochud, Murielle

    2012-01-01

    Heritability is a measure of familial resemblance. Estimating the heritability of a trait represents one of the first steps in the gene mapping process. This chapter describes how to estimate heritability for quantitative traits from nuclear and pedigree data using the ASSOC program in the Statistical Analysis for Genetic Epidemiology (S.A.G.E.) software package. Estimating heritability rests on the assumption that the total phenotypic variance of a quantitative trait can be partitioned into independent genetic and environmental components. In turn, the genetic variance can be divided into an additive (polygenic) genetic variance, a dominance variance (nonlinear interaction effects between alleles at the same locus), and an epistatic variance (interaction effects between alleles at different loci). The last two are often assumed to be zero. The additive genetic variance represents the average effects of individual alleles on the phenotype and reflects transmissible resemblance between relatives. Heritability in the narrow sense (h (2)) refers to the ratio of the additive genetic variance to the total phenotypic variance. Heritability is a dimensionless population-specific parameter. ASSOC estimates association parameters (regression coefficients) and variance components from family data. ASSOC uses a linear regression model in which the total residual variance is partitioned, after regressing on covariates, into the sum of a random additive polygenic component, a random sibship component, random nuclear family components, a random marital component, and an individual-specific random component. Assortative mating, nonrandom ascertainment of families and failure to account for key confounding factors may bias heritability estimates.

  13. Alzheimer's disease: analyzing the missing heritability.

    Directory of Open Access Journals (Sweden)

    Perry G Ridge

    Full Text Available Alzheimer's disease (AD is a complex disorder influenced by environmental and genetic factors. Recent work has identified 11 AD markers in 10 loci. We used Genome-wide Complex Trait Analysis to analyze >2 million SNPs for 10,922 individuals from the Alzheimer's Disease Genetics Consortium to assess the phenotypic variance explained first by known late-onset AD loci, and then by all SNPs in the Alzheimer's Disease Genetics Consortium dataset. In all, 33% of total phenotypic variance is explained by all common SNPs. APOE alone explained 6% and other known markers 2%, meaning more than 25% of phenotypic variance remains unexplained by known markers, but is tagged by common SNPs included on genotyping arrays or imputed with HapMap genotypes. Novel AD markers that explain large amounts of phenotypic variance are likely to be rare and unidentifiable using genome-wide association studies. Based on our findings and the current direction of human genetics research, we suggest specific study designs for future studies to identify the remaining heritability of Alzheimer's disease.

  14. Heritability of metoprolol and torsemide pharmacokinetics.

    Science.gov (United States)

    Matthaei, J; Brockmöller, J; Tzvetkov, M V; Sehrt, D; Sachse-Seeboth, C; Hjelmborg, J B; Möller, S; Halekoh, U; Hofmann, U; Schwab, M; Kerb, R

    2015-12-01

    Genetic variation in the pharmacokinetics of metoprolol and torsemide due to polymorphisms in CYP2D6, CYP2C9, and OATP1B1 has been extensively studied. However, it is still unknown how much of the variation in pharmacokinetics of these two clinically important drugs in total is due to genetic factors. Metoprolol and torsemide were intravenously administered to 44 monozygotic and 14 dizygotic twin pairs. Metoprolol area under the curve (AUC) varied 4.7-fold and torsemide AUC 3.5-fold. A very high fraction of AUC variations, 91% of metoprolol and 86% of torsemide, were found to be due to additive genetic effects. However, known genetic variants of CYP2D6, -2C9, and OATP1B1 explained only 39%, 2%, and 39% of that variation, respectively. Comparable results for genetically explained variation in pharmacokinetics and pharmacodynamics have been found for other substrates of these enzymes earlier. These findings indicate that a substantial fraction of the heritable variability in the pharmacokinetics of metoprolol and torsemide remains to be elucidated.

  15. Tic symptom dimensions and their heritabilities in Tourette's syndrome

    NARCIS (Netherlands)

    de Haan, Marcel J; Delucchi, Kevin L; Mathews, Carol M; Cath, Danielle C

    2015-01-01

    INTRODUCTION: Gilles de la Tourette's syndrome (TS) is both genotypically and phenotypically heterogeneous. Gene-finding strategies have had limited success, possibly because of symptom heterogeneity. OBJECTIVE: This study aimed at specifically investigating heritabilities of tic symptom factors in

  16. Tic symptom dimensions and their heritabilities in Tourette's syndrome

    NARCIS (Netherlands)

    de Haan, Marcel J; Delucchi, Kevin L; Mathews, Carol M; Cath, Danielle C

    2015-01-01

    INTRODUCTION: Gilles de la Tourette's syndrome (TS) is both genotypically and phenotypically heterogeneous. Gene-finding strategies have had limited success, possibly because of symptom heterogeneity. OBJECTIVE: This study aimed at specifically investigating heritabilities of tic symptom factors in

  17. Tic symptom dimensions and their heritabilities in Tourette's syndrome

    NARCIS (Netherlands)

    de Haan, Marcel J; Delucchi, Kevin L; Mathews, Carol M; Cath, Danielle C

    INTRODUCTION: Gilles de la Tourette's syndrome (TS) is both genotypically and phenotypically heterogeneous. Gene-finding strategies have had limited success, possibly because of symptom heterogeneity. OBJECTIVE: This study aimed at specifically investigating heritabilities of tic symptom factors in

  18. ANOPHTHALMIA: A NON-HERITABLE EYE DEFORMITY IN Oreochromis mossambicus

    Directory of Open Access Journals (Sweden)

    D. Tave

    1998-12-01

    Full Text Available Seven male Oreochromis mossambicus with anophthalmia were found in a hatchery population. The deformity was not observed in either the Fl or F2 generations; consequently, it was a non-heritable congenital deformity.

  19. An Effective Method to Identify Heritable Components from Multivariate Phenotypes.

    Directory of Open Access Journals (Sweden)

    Jiangwen Sun

    Full Text Available Multivariate phenotypes may be characterized collectively by a variety of low level traits, such as in the diagnosis of a disease that relies on multiple disease indicators. Such multivariate phenotypes are often used in genetic association studies. If highly heritable components of a multivariate phenotype can be identified, it can maximize the likelihood of finding genetic associations. Existing methods for phenotype refinement perform unsupervised cluster analysis on low-level traits and hence do not assess heritability. Existing heritable component analytics either cannot utilize general pedigrees or have to estimate the entire covariance matrix of low-level traits from limited samples, which leads to inaccurate estimates and is often computationally prohibitive. It is also difficult for these methods to exclude fixed effects from other covariates such as age, sex and race, in order to identify truly heritable components. We propose to search for a combination of low-level traits and directly maximize the heritability of this combined trait. A quadratic optimization problem is thus derived where the objective function is formulated by decomposing the traditional maximum likelihood method for estimating the heritability of a quantitative trait. The proposed approach can generate linearly-combined traits of high heritability that has been corrected for the fixed effects of covariates. The effectiveness of the proposed approach is demonstrated in simulations and by a case study of cocaine dependence. Our approach was computationally efficient and derived traits of higher heritability than those by other methods. Additional association analysis with the derived cocaine-use trait identified genetic markers that were replicated in an independent sample, further confirming the utility and advantage of the proposed approach.

  20. Lipid Lowering Efficacy of Pennisetum glaucum Bran in Hyperlipidemic Albino Rats

    Directory of Open Access Journals (Sweden)

    I. Javed*, B. Aslam, M. Z. Khan1, Zia-Ur-Rahman, F. Muhammad and M. K. Saleemi1

    2012-05-01

    Full Text Available The objective of the study was to determine lipid lowering efficacy of Pennisetum (P glaucum (Pearl millet, locally known as bajra, bran in hyperlipidemia albino rats. Simvastatin, (Tablet survive®, was used as cholesterol lowering synthetic drug. The period of 0-15 days was considered as a lead-in period to induce hyperlipidemia with atherogenic diet in albino rats. P. glaucum bran at dose rate of 2, 4 and 6 g/kg BW showed lipid lowering efficacy in hyperlipidemic rats at post-treatment days 30, 45 and 60. At the level of 6 g/kg, P. glaucum bran was able to produce a significant (P<0.05 increase in HDL- cholesterol (47% and fall in other lipid profile parameters i.e. total lipids (41%, triglycerides(48%, total cholesterol (39% and LDL- cholesterol (55%. P. glaucum 6 g/kg also reduced total cholesterol in liver tissue and increased fecal bile acid secretion. The results of present study suggest that 6 g/kg P. glaucum bran and 0.6 mg/kg Simvastatin were equally effective in treating hyperlipidemia in albino rats. Moreover, the potency of P. glaucum for stimulating fecal bile acid secretion in albino rats may safely be conceived, at least, as a part of mechanisms for its antihyperlipidemic efficacy.

  1. Resistance training with soy vs whey protein supplements in hyperlipidemic males

    Directory of Open Access Journals (Sweden)

    Leddy John J

    2009-03-01

    Full Text Available Abstract Background Most individuals at risk for developing cardiovascular disease (CVD can reduce risk factors through diet and exercise before resorting to drug treatment. The effect of a combination of resistance training with vegetable-based (soy versus animal-based (whey protein supplementation on CVD risk reduction has received little study. The study's purpose was to examine the effects of 12 weeks of resistance exercise training with soy versus whey protein supplementation on strength gains, body composition and serum lipid changes in overweight, hyperlipidemic men. Methods Twenty-eight overweight, male subjects (BMI 25–30 with serum cholesterol >200 mg/dl were randomly divided into 3 groups (placebo (n = 9, and soy (n = 9 or whey (n = 10 supplementation and participated in supervised resistance training for 12 weeks. Supplements were provided in a double blind fashion. Results All 3 groups had significant gains in strength, averaging 47% in all major muscle groups and significant increases in fat free mass (2.6%, with no difference among groups. Percent body fat and waist-to-hip ratio decreased significantly in all 3 groups an average of 8% and 2%, respectively, with no difference among groups. Total serum cholesterol decreased significantly, again with no difference among groups. Conclusion Participation in a 12 week resistance exercise training program significantly increased strength and improved both body composition and serum cholesterol in overweight, hypercholesterolemic men with no added benefit from protein supplementation.

  2. Hypolipidemic and antioxidant effects of buckwheat leaf and flower mixture in hyperlipidemic rats.

    Science.gov (United States)

    Ðurendić-Brenesel, Maja; Popović, Tamara; Pilija, Vladimir; Arsić, Aleksandra; Milić, Miljan; Kojić, Danijela; Jojić, Nikola; Milić, Nataša

    2013-05-01

    As a source of biologically active compounds, buckwheat has beneficial effects in nutrition due to its high content of flavonoids, particularly rutin. Aim of our study was to examine effects of buckwheat on plasma lipid status and phospholipids fatty acids composition, histological and parameters of oxidative stress in Wistar rats fed a high-fat diet. This study showed that buckwheat leaf and flower (BLF) mixture supplementation significantly reduce weight gain, plasma lipid concentrations and atherogenic index in rats fed a high-fat diet. Treatment of the high-fat group of animals with buckwheat significantly increased percentage of n-6 fatty acids as well as eicosapentaenoic acid (EPA) and decreased percentage of saturated fatty acids (SFA) and oleic acid. Buckwheat antioxidant effects diminished negative influence of high-fat diet in hyperlipidemic rats, while pathohistological analysis of liver confirmed changes after high-fat consumption. Our results showed hypolipidemic, antiatherogenic and antioxidative features of buckwheat leaf and flower mixture, and these parts of the plant with the highest rutin content could be beneficial in prevention and curing of hyperlipidemia.

  3. Chronic alcohol feeding inhibits atherogenesis in C57BL/6 hyperlipidemic mice.

    Science.gov (United States)

    Emeson, E E; Manaves, V; Singer, T; Tabesh, M

    1995-12-01

    Although there is abundant clinical evidence that the consumption of alcohol (ethanol) in moderate amounts has a protective effect on coronary artery disease, the mechanism of this effect is not understood. The prevailing theory supported by a limited number of clinical and experimental animal studies indicates that the ability of alcohol to elevate serum high-density lipoprotein cholesterol levels is an important mechanism. Although there have been a large number of studies on the effects of alcohol on serum lipoprotein and apolipoproteins on coronary artery disease, there have been very few that have, at the same time, looked directly and systematically at its effects on the histopathological development of atherosclerotic lesions. In the following studies we employed the hyperlipidemic C57BL/6 female mouse model and formulated an all liquid high fat atherogenic diet to provide the mice with the 3% or 6% alcohol. After 22 weeks on this diet, alcohol markedly inhibited the development of fatty streak atherosclerotic lesions in a dose-dependent fashion. Surprisingly, there was a dose-dependent decrease in plasma high-density lipoprotein cholesterol values, which suggests that high-density lipoprotein alterations play little or no role in the amelioration of atherosclerosis in this model.

  4. Experimental study of osthole on treatment of hyperlipidemic and alcoholic fatty liver in animals

    Institute of Scientific and Technical Information of China (English)

    Fang Song; Mei-Lin Xie; Lu-Jia Zhu; Ke-Ping Zhang; Jie Xue; Zhen-Lun Gu

    2006-01-01

    AIM: To evaluate the effects of osthole on fatty liver,and investigate the possible mechanism.METHODS: A quail model with hyperlipidemic fatty liver and rat model with alcoholic fatty liver were set up by feeding high fat diet and alcohol, respectively. These experimental animals were then treated with osthole 5-20 mg/kg for 6 wk, respectively. Whereafter, the lipid in serum and hepatic tissue, and coefficient of hepatic weight were measured.RESULTS: After treatment with osthole the levels of serum total cholesterol (TC), triglyceride (TG), lower density lipoprotein-cholesterol (LDL-C), coefficient of hepatic weight, and the hepatic tissue contents of TC and TG were significantly decreased. The activity of superoxide dismutase (SOD) in liver was improved.In alcohol-induced fatty liver rats, the level of malondialdehyde (MDA) in liver was decreased. In high fat-induced fatty liver quails, glutathione peroxidase (GSH-PX) in liver was significantly improved. The histological evaluation of liver specimens demonstrated that the osthole dramatically decreased lipid accumulation.CONCLUSION: These results suggested that osthole had therapeutic effects on both alcohol and high fatinduced fatty liver. The mechanism might be associated with its antioxidation.

  5. Heritabilities of somatotype components in a population from rural Mozambique.

    Science.gov (United States)

    Saranga, Sílvio Pedro José; Prista, António; Nhantumbo, Leonardo; Beunen, Gaston; Rocha, Jorge; Williams-Blangero, Sarah; Maia, José A

    2008-01-01

    There have been few genetic studies of normal variation in body size and composition conducted in Africa. In particular, the genetic determinants of somatotype remain to be established for an African population. (1) To estimate the heritabilities of aspects of somatotype and (2) to compare the quantitative genetic effects in an African population to those that have been assessed in European and American populations. The sample composed of 329 subjects (173 males and 156 females) aged 7-17 years, belonging to 132 families. The sibships in the sample ranged in size from two to seven individuals. All sampled individuals were residents of the Calanga region, an area located to the north of Maputo in Mozambique. Somatotype was assessed using the Heath-Carter technique. Herit abilities were estimated using SAGE software. Moderate heritabilities were determined for each trait. Between 30 and 40% of the variation in each somatotype measure was attributable to genetic factors. The heritability of ectomorphy was 31%. Mesomorphy was similarly moderately heritable, with approximately 30% of the variationattributable to genetic factors. The heritability of endomorph was higher in the Calanga population (h(2) = 0.40). Quantitative genetic analyses of somatotype variation among siblings indicate that genetic factors significantly influence endomorphy, mesomorhpy, and ectomorphy. However, environmental factors also have significant effects on the variation in physique present in the population of Calanga. Lack of proper nutrition, housing, medical assistance, and primary health care, together with very demanding and sex-specific daily chores may contribute to the environmental effects on these traits.

  6. Genomic Heritability of Bovine Growth Using a Mixed Model

    Directory of Open Access Journals (Sweden)

    Jihye Ryu

    2014-11-01

    Full Text Available This study investigated heritability for bovine growth estimated with genomewide single nucleotide polymorphism (SNP information obtained from a DNA microarray chip. Three hundred sixty seven Korean cattle were genotyped with the Illumina BovineSNP50 BeadChip, and 39,112 SNPs of 364 animals filtered by quality assurance were analyzed to estimate heritability of body weights at 6, 9, 12, 15, 18, 21, and 24 months of age. Restricted maximum likelihood estimate of heritability was obtained using covariance structure of genomic relationships among animals in a mixed model framework. Heritability estimates ranged from 0.58 to 0.76 for body weights at different ages. The heritability estimates using genomic information in this study were larger than those which had been estimated previously using pedigree information. The results revealed a trend that the heritability for body weight increased at a younger age (6 months. This suggests an early genetic evaluation for bovine growth using genomic information to increase genetic merits of animals.

  7. Evidence for a heritable unidimensional symptom factor underlying obsessionality.

    Science.gov (United States)

    Mathews, Carol A; Greenwood, Tiffany; Wessel, Jennifer; Azzam, Amin; Garrido, Helena; Chavira, Denise A; Chandavarkar, Uma; Bagnarello, Monica; Stein, Murray; Schork, Nicholas J

    2008-09-05

    The division of obsessive-compulsive symptoms (OCS) into specific factors is now widely accepted. However, the utility of these categories for genetic studies remains unclear, as studies examining their heritability have been inconsistent. Less attention has been paid to the possibility that clinically significant obsessionality is primarily determined by a "core" group of OCS that crosses the boundaries between symptom subgroups. The aim of this study is to determine whether such a core group exists, and to compare its heritability to that of the more traditionally derived symptom factors. We examined the properties and heritability of obsessive-compulsive symptoms in college students, medical students, and obsessive-compulsive disorder (OCD) families using the Leyton Obsessional Inventory. In each of the three samples, we identified a core group of symptoms that comprised a single unique construct and accounted for over 90% of the variation of the four more traditional symptom factors. This core construct was highly correlated with OCD in our families and had a heritability estimate of 0.19 when OCD was not included as a covariate and 0.49 when OCD was included as a covariate. In contrast, the four symptom factors were not heritable. There appears to be an underlying unidimensional component to obsessionality, both in non-clinical and clinical samples. This component, which is heritable, accounts for the majority of the variation of the more traditionally derived symptom factors in our sample, and is composed of OCS that are not specific to any of the symptom subgroups.

  8. Heritability of compulsive Internet use in adolescents.

    Science.gov (United States)

    Vink, Jacqueline M; van Beijsterveldt, Toos C E M; Huppertz, Charlotte; Bartels, Meike; Boomsma, Dorret I

    2016-03-01

    Over the past decades, Internet use has grown substantially, and it now serves people as a supportive tool that is used regularly and-in large parts of the world-inevitably. Some people develop problematic Internet use, which may lead to addictive behavior and it is becoming important to explore the risk factors for compulsive Internet use. Data were analyzed on compulsive Internet use [with the Compulsive Internet Use Scale (CIUS)] from 5247 monozygotic (MZ) and dizygotic (DZ) adolescent twins registered with the Netherlands Twin Register. The participants form a sample that is informative for genetic analyses, allowing the investigation of the causes of individual differences in compulsive Internet use. The internal consistency of the instrument was high and the 1.6-year test-retest correlation in a subsample (n = 902) was 0.55. CIUS scores increased slightly with age. Remarkably, gender did not explain variation in CIUS scores, as mean scores on the CIUS were the same in boys and girls. However, the time spent on specific Internet activities differed: boys spent more time on gaming, whereas girls spent more time on social network sites and chatting. The heritability estimates were the same for boys and girls: 48 percent of the individual differences in CIUS score were influenced by genetic factors. The remaining variance (52 percent) was due to environmental influences that were not shared between family members. Because a life without Internet is almost impossible nowadays, it is important to further explore the determinants of compulsive Internet use, including genetic risk factors.

  9. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types

    NARCIS (Netherlands)

    Sampson, Joshua N; Wheeler, William A; Yeager, Meredith; Panagiotou, Orestis; Wang, Zhaoming; Berndt, Sonja I; Lan, Qing; Abnet, Christian C; Amundadottir, Laufey T; Figueroa, Jonine D; Landi, Maria Teresa; Mirabello, Lisa; Savage, Sharon A; Taylor, Philip R; Vivo, Immaculata De; McGlynn, Katherine A; Purdue, Mark P; Rajaraman, Preetha; Adami, Hans-Olov; Ahlbom, Anders; Albanes, Demetrius; Amary, Maria Fernanda; An, She-Juan; Andersson, Ulrika; Andriole, Gerald; Andrulis, Irene L; Angelucci, Emanuele; Ansell, Stephen M; Arici, Cecilia; Armstrong, Bruce K; Arslan, Alan A; Austin, Melissa A; Baris, Dalsu; Barkauskas, Donald A; Bassig, Bryan A; Becker, Nikolaus; Benavente, Yolanda; Benhamou, Simone; Berg, Christine; Van Den Berg, David; Bernstein, Leslie; Bertrand, Kimberly A; Birmann, Brenda M; Black, Amanda; Boeing, Heiner; Boffetta, Paolo; Boutron-Ruault, Marie-Christine; Bracci, Paige M; Brinton, Louise; Brooks-Wilson, Angela R; Bueno-de-Mesquita, H Bas; Burdett, Laurie; Buring, Julie; Butler, Mary Ann; Cai, Qiuyin; Cancel-Tassin, Geraldine; Canzian, Federico; Carrato, Alfredo; Carreon, Tania; Carta, Angela; Chan, John K C; Chang, Ellen T; Chang, Gee-Chen; Chang, I-Shou; Chang, Jiang; Chang-Claude, Jenny; Chen, Chien-Jen; Chen, Chih-Yi; Chen, Chu; Chen, Chung-Hsing; Chen, Constance; Chen, Hongyan; Chen, Kexin; Chen, Kuan-Yu; Chen, Kun-Chieh; Chen, Ying; Chen, Ying-Hsiang; Chen, Yi-Song; Chen, Yuh-Min; Chien, Li-Hsin; Chirlaque, María-Dolores; Choi, Jin Eun; Choi, Yi Young; Chow, Wong-Ho; Chung, Charles C; Clavel, Jacqueline; Clavel-Chapelon, Françoise; Cocco, Pierluigi; Colt, Joanne S; Comperat, Eva; Conde, Lucia; Connors, Joseph M; Conti, David; Cortessis, Victoria K; Cotterchio, Michelle; Cozen, Wendy; Crouch, Simon; Crous-Bou, Marta; Cussenot, Olivier; Davis, Faith G; Ding, Ti; Diver, W Ryan; Dorronsoro, Miren; Dossus, Laure; Duell, Eric J; Ennas, Maria Grazia; Erickson, Ralph L; Feychting, Maria; Flanagan, Adrienne M; Foretova, Lenka; Fraumeni, Joseph F; Freedman, Neal D; Beane Freeman, Laura E; Fuchs, Charles; Gago-Dominguez, Manuela; Gallinger, Steven; Gao, Yu-Tang; Gapstur, Susan M; Garcia-Closas, Montserrat; García-Closas, Reina; Gascoyne, Randy D; Gastier-Foster, Julie; Gaudet, Mia M; Gaziano, J Michael; Giffen, Carol; Giles, Graham G; Giovannucci, Edward; Glimelius, Bengt; Goggins, Michael; Gokgoz, Nalan; Goldstein, Alisa M; Gorlick, Richard; Gross, Myron; Grubb, Robert; Gu, Jian; Guan, Peng; Gunter, Marc; Guo, Huan; Habermann, Thomas M; Haiman, Christopher A; Halai, Dina; Hallmans, Goran; Hassan, Manal; Hattinger, Claudia; He, Qincheng; He, Xingzhou; Helzlsouer, Kathy; Henderson, Brian; Henriksson, Roger; Hjalgrim, Henrik; Hoffman-Bolton, Judith; Hohensee, Chancellor; Holford, Theodore R; Holly, Elizabeth A; Hong, Yun-Chul; Hoover, Robert N; Horn-Ross, Pamela L; Hosain, G M Monawar; Hosgood, H Dean; Hsiao, Chin-Fu; Hu, Nan; Hu, Wei; Hu, Zhibin; Huang, Ming-Shyan; Huerta, Jose-Maria; Hung, Jen-Yu; Hutchinson, Amy; Inskip, Peter D; Jackson, Rebecca D; Jacobs, Eric J; Jenab, Mazda; Jeon, Hyo-Sung; Ji, Bu-Tian; Jin, Guangfu; Jin, Li; Johansen, Christoffer; Johnson, Alison; Jung, Yoo Jin; Kaaks, Rudolph; Kamineni, Aruna; Kane, Eleanor; Kang, Chang Hyun; Karagas, Margaret R; Kelly, Rachel S; Khaw, Kay-Tee; Kim, Christopher; Kim, Hee Nam; Kim, Jin Hee; Kim, Jun Suk; Kim, Yeul Hong; Kim, Young Tae; Kim, Young-Chul; Kitahara, Cari M; Klein, Alison P; Klein, Robert J; Kogevinas, Manolis; Kohno, Takashi; Kolonel, Laurence N; Kooperberg, Charles; Kricker, Anne; Krogh, Vittorio; Kunitoh, Hideo; Kurtz, Robert C; Kweon, Sun-Seog; LaCroix, Andrea; Lawrence, Charles; Lecanda, Fernando; Lee, Victor Ho Fun; Li, Donghui; Li, Haixin; Li, Jihua; Li, Yao-Jen; Li, Yuqing; Liao, Linda M; Liebow, Mark; Lightfoot, Tracy; Lim, Wei-Yen; Lin, Chien-Chung; Lin, Dongxin; Lindstrom, Sara; Linet, Martha S; Link, Brian K; Liu, Chenwei; Liu, Jianjun; Liu, Li; Ljungberg, Börje; Lloreta, Josep; Lollo, Simonetta Di; Lu, Daru; Lund, Eiluv; Malats, Nuria; Mannisto, Satu; Marchand, Loic Le; Marina, Neyssa; Masala, Giovanna; Mastrangelo, Giuseppe; Matsuo, Keitaro; Maynadie, Marc; McKay, James; McKean-Cowdin, Roberta; Melbye, Mads; Melin, Beatrice S; Michaud, Dominique S; Mitsudomi, Tetsuya; Monnereau, Alain; Montalvan, Rebecca; Moore, Lee E; Mortensen, Lotte Maxild; Nieters, Alexandra; North, Kari E; Novak, Anne J; Oberg, Ann L; Offit, Kenneth; Oh, In-Jae; Olson, Sara H; Palli, Domenico; Pao, William; Park, In Kyu; Park, Jae Yong; Park, Kyong Hwa; Patiño-Garcia, Ana; Pavanello, Sofia; Peeters, Petra H M; Perng, Reury-Perng; Peters, Ulrike; Petersen, Gloria M; Picci, Piero; Pike, Malcolm C; Porru, Stefano; Prescott, Jennifer; Prokunina-Olsson, Ludmila; Qian, Biyun; Qiao, You-Lin; Rais, Marco; Riboli, Elio; Riby, Jacques; Risch, Harvey A; Rizzato, Cosmeri; Rodabough, Rebecca; Roman, Eve; Roupret, Morgan; Ruder, Avima M; Sanjose, Silvia de; Scelo, Ghislaine; Schned, Alan; Schumacher, Fredrick; Schwartz, Kendra; Schwenn, Molly; Scotlandi, Katia; Seow, Adeline; Serra, Consol; Serra, Massimo; Sesso, Howard D; Setiawan, Veronica Wendy; Severi, Gianluca; Severson, Richard K; Shanafelt, Tait D; Shen, Hongbing; Shen, Wei; Shin, Min-Ho; Shiraishi, Kouya; Shu, Xiao-Ou; Siddiq, Afshan; Sierrasesúmaga, Luis; Sihoe, Alan Dart Loon; Skibola, Christine F; Smith, Alex; Smith, Martyn T; Southey, Melissa C; Spinelli, John J; Staines, Anthony; Stampfer, Meir; Stern, Marianna C; Stevens, Victoria L; Stolzenberg-Solomon, Rachael S; Su, Jian; Su, Wu-Chou; Sund, Malin; Sung, Jae Sook; Sung, Sook Whan; Tan, Wen; Tang, Wei; Tardón, Adonina; Thomas, David; Thompson, Carrie A; Tinker, Lesley F; Tirabosco, Roberto; Tjønneland, Anne; Travis, Ruth C; Trichopoulos, Dimitrios; Tsai, Fang-Yu; Tsai, Ying-Huang; Tucker, Margaret; Turner, Jenny; Vajdic, Claire M; Vermeulen, Roel C H; Villano, Danylo J; Vineis, Paolo; Virtamo, Jarmo; Visvanathan, Kala; Wactawski-Wende, Jean; Wang, Chaoyu; Wang, Chih-Liang; Wang, Jiu-Cun; Wang, Junwen; Wei, Fusheng; Weiderpass, Elisabete; Weiner, George J; Weinstein, Stephanie; Wentzensen, Nicolas; White, Emily; Witzig, Thomas E; Wolpin, Brian M; Wong, Maria Pik; Wu, Chen; Wu, Guoping; Wu, Junjie; Wu, Tangchun; Wu, Wei; Wu, Xifeng; Wu, Yi-Long; Wunder, Jay S; Xiang, Yong-Bing; Xu, Jun; Xu, Ping; Yang, Pan-Chyr; Yang, Tsung-Ying; Ye, Yuanqing; Yin, Zhihua; Yokota, Jun; Yoon, Ho-Il; Yu, Chong-Jen; Yu, Herbert; Yu, Kai; Yuan, Jian-Min; Zelenetz, Andrew; Zeleniuch-Jacquotte, Anne; Zhang, Xu-Chao; Zhang, Yawei; Zhao, Xueying; Zhao, Zhenhong; Zheng, Hong; Zheng, Tongzhang; Zheng, Wei; Zhou, Baosen; Zhu, Meng; Zucca, Mariagrazia; Boca, Simina M; Cerhan, James R; Ferri, Giovanni M; Hartge, Patricia; Hsiung, Chao Agnes; Magnani, Corrado; Miligi, Lucia; Morton, Lindsay M; Smedby, Karin E; Teras, Lauren R; Vijai, Joseph; Wang, Sophia S; Brennan, Paul; Caporaso, Neil E; Hunter, David J; Kraft, Peter; Rothman, Nathaniel; Silverman, Debra T; Slager, Susan L; Chanock, Stephen J; Chatterjee, Nilanjan

    2015-01-01

    BACKGROUND: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.

  10. Preservation of vascular DDAH activity contributes to the protection of captopril against endothelial dysfunction in hyperlipidemic rabbits.

    Science.gov (United States)

    Lin, Yuan; Feng, Mei; Lu, Chang-Wu; Lei, Yan-Ping; He, Zhi-Min; Xiong, Yan

    2017-03-05

    Endothelial dysfunction plays a pivotal role in the pathogenesis of atherosclerosis. Endogenous inhibitor of nitric oxide synthase (NOS) asymmetric dimethylarginine (ADMA) has been recognized as an independent risk factor of endothelial dysfunction and the biomarker of atherosclerosis. This study was to investigate whether endogenous ADMA and its metabolic enzyme dimethylarginine dimethylaminohydrolase (DDAH) were involved in mechanisms of captopril protection against endothelial dysfunction in high fat diet feeding rabbits. Half of model rabbits were treated with captopril (10mg/kg/d, i.g.) for 12w. Vascular morphology and serum lipid profiles were detected. Serum ADMA concentration were assayed by high performance liquid chromatography. Recombinant DDAH2 gene adenoviruses were ex vivo transferred to thoracic aortas of high fat diet feeding rabbits. Endothelium-dependent relaxation of aortas response to acetylcholine and DDAH activity were measured. Atherosclerosis was confirmed in high fat diet feeding rabbits by increased serum lipid profiles and morphologic changes of vascular wall. Serum ADMA levels were significantly increased in hyperlipidemic rabbits accompanied with impairment of endothelium-dependent relaxation and inhibition of DDAH activity in thoracic aortas. Captopril treatment not only decreased vascular intima thickening and serum ADMA concentration but also preserved vascular DDAH activity and endothelium-dependent relaxation in hyperlipidemic rabbits without influence on serum lipid profiles. Similar beneficial effects on endothelial function and DDAH activity could be achieved by DDAH2 gene transfection. These results indicated that captopril could protect against injuries of vascular morphology and endothelial function in hyperlipidemic rabbits, the mechanisms may be related to the preservation of DDAH activity and decrease of ADMA accumulation in vascular endothelium. Copyright © 2017. Published by Elsevier B.V.

  11. 16-Dehydropregnenolone lowers serum cholesterol by up-regulation of CYP7A1 in hyperlipidemic male hamsters.

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    Ramakrishna, Rachumallu; Kumar, Durgesh; Bhateria, Manisha; Gaikwad, Anil Nilkanth; Bhatta, Rabi Sankar

    2017-04-01

    16-Dehydropregnenolone (DHP) has been developed and patented as a promising antihyperlipidemic agent by CSIR-Central Drug Research Institute (CSIR-CDRI), India. Although DHP is implicated in controlling cholesterol homeostasis, the mechanism underlying its pharmacological effect in hyperlipidemic disease models is poorly understood. In the present study, we postulated that DHP lowers serum lipids through regulating the key hepatic genes accountable for cholesterol metabolism. The hypothesis was tested on golden Syrian hamsters fed with high-fat diet (HFD) following oral administration of DHP at a dose of 72mg/kg body weight for a period of one week. The serum total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and total bile acids (TBA) in feces were measured. Real time comparative gene expression studies were performed for CYP7A1, LXRα and PPARα level in liver tissue of hamsters. The results revealed that the DHP profoundly decreased the levels of serum TC, TG, LDL-C and atherogenic index (AI), whilst elevated the HDL-C/TC ratio. Besides, DHP exhibited an anti-hyperlipidemic effect in the HFD induced hyperlipidemic hamsters by means of: (1) up-regulating the gene expression of CYP7A1 encoded cholesterol 7α-hydroxylase, that promotes the catabolism of cholesterol to bile acid; (2) inducing the gene expression of transcription factors LXRα and PPARα; (3) increasing the TBA excretion through feces. Collectively, the findings presented confer the hypolipidemic activity of DHP via up-regulation of hepatic CYP7A1 pathway that promotes cholesterol-to-bile acid conversion and bile acid excretion. Copyright © 2017 Elsevier Ltd. All rights reserved.

  12. Hypolipidemic and antioxidant activity of the aqueous extract from the uneaten pulp of the fruit from Cordia dichotoma in healthy and hyperlipidemic Wistar albino rats.

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    El-Newary, Samah A; Sulieman, A M; El-Attar, S R; Sitohy, M Z

    2016-07-01

    Hyperlipidemia is a major risk factor for coronary heart disease. Hyperlipidemia increases the incidence of myocardial ischemia and cardiac events. This study evaluated the potential hypolipidemic and antioxidant action of the aqueous extract from the uneaten pulp of the fruit from Cordia dichotoma ("CDNP extract"). In vivo studies were performed for 10 weeks on dietary hyperlipidemic and healthy Wistar albino rat models that received two dose levels of the CDNP extract (0.50 and 1.00 g/kg body weight). Serum lipid profiles were determined for the experimental animals. Dietary hyperlipidemic rats were characterized by an elevated lipid profile compared to the healthy control, i.e., increased levels of serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), very low density lipoprotein cholesterol (VLDL-C), and triglycerides (TG), although the level of high-density lipoprotein (HDL-C) was reduced. Levels of antioxidant enzymes, i.e., glutathione reductase (GR), glutathione peroxidase (GPx), glutathione-S-transferase (GST), superoxide dismutase (SOD), and catalase (CAT), were significantly higher in the dietary hyperlipidemic rats than in the normal healthy ones, while the level of malondialdehyde (MDA) was significantly lower. Force-feeding hyperlipidemic Wistar albino rats with the CDNP extract at two doses decreased TC, LDL-C, VLDL-C, and TG to normal levels. The risk ratio, which was as high as 870 % for the hyperlipidemic rats was decreased by the treatment to levels close to that calculated for the healthy control rats. Levels of high-density lipoprotein cholesterol (HDL-C) were very low in the hyperlipidemic Wistar albino rats but increased significantly when CDNP extract was adminstered, attaining similar HDL-C levels to those of healthy control rats. Treatment with the CDNP extract also improved the levels of antioxidant enzymes (GR, GST, GPx, SOD, and CAT) in hyperlipidemic Wistar albino rats. Thus, the CDNP extract improves the lipid

  13. Heritability of substance dependence in a native American population.

    Science.gov (United States)

    Wilhelmsen, Kirk C; Ehlers, Cindy

    2005-06-01

    To estimate the heritability of substance dependence and associated symptoms in a sample of Southwest California (Mission) Indians. Families from eight contiguous Indian reservations were recruited in order to ascertain information on substance dependence symptoms and diagnoses using a semi-structured diagnostic interview. Dependence diagnoses for alcohol, marijuana, stimulants and a measure of regular tobacco usage, any drug dependence or tobacco usage were obtained. Composite measures of alcohol dependence symptoms for withdrawal, drinking severity, antisocial problems and interpersonal problems were constructed from the nine groups of symptoms summarized in the diagnostic interview. Heritability estimates were calculated using variance component methods, as implemented in SOLAR. In this population, marijuana dependence (0.38) and regular tobacco use (0.43), alcohol dependence (DSM-III-R 0.19; ICD-10, 0.29) and stimulant dependence (0.25) showed evidence for moderate genetic influences as determined by heritability estimates. Four phenotypes constructed using the composite symptoms of alcohol dependence revealed that withdrawal had the highest heritability estimate (0.71), followed by antisocial problems (0.36) and drinking severity (0.34). Symptom clusters reflecting interpersonal problems did not appear to be highly heritable (0.19). Marijuana dependence, regular tobacco usage and composite phenotypes constructed from alcohol dependence symptoms for antisocial problems, drinking severity and withdrawal generally have patterns of familial aggregation, suggesting that they can be successfully used for linkage analysis in this Southwest California Indian sample.

  14. The effects of the decaffeination of coffee samples on platelet aggregation in hyperlipidemic rats.

    Science.gov (United States)

    Silvério, Alessandra dos Santos Danziger; Pereira, Rosemary Gualberto Fonseca Alvarenga; Lima, Adriene Ribeiro; Paula, Fernanda Borges de Araújo; Rodrigues, Maria Rita; Baldissera, Lineu; Duarte, Stella Maris da Silveira

    2013-09-01

    The effect of coffee on cardiovascular diseases is still controversial. It is known that the process of decaffeination may influence the chemical constitution and, therefore, the biological effects of coffee. This study thus evaluated the effects of decaffeination on the levels of total phenols and chlorogenic acids in Coffea arabica L. samples, as well as the effects of ingesting both integral and decaffeinated coffee on the lipid profile and hemostatic and hematological parameters in normal and hyperlipidemic rats. Samples of integral and decaffeinated lyophilized coffee (Coffea arabica L., planted in Brazil) were used for chemical analysis (total phenols, chlorogenic acid and caffeine contents). For the bioassays, coffee beverages were prepared with non-lyophilized samples (10% w/v) and were filtered and administered to animals by gavage (7.2 mL/kg/day) over 30 days. On the 31st day after beginning the treatment with coffee beverages, hyperlipidemia was induced to the animals by administering Triton WR-1339 (300 mg/kg body weight). On day 32, blood was taken to determine the lipid profile, platelet aggregation, prothrombin time, partially activated thromboplastin time and hemogram. The contents of both phenolic compounds and chlorogenic acid in the integral coffee beverage were significantly lower than those in the decaffeinated coffee beverage. The animals treated with Triton WR-1339 presented a mixed hyperlipidemia. Although the decaffeination process caused a relative increase in total phenols and chlorogenic acids, the coffee drinks were unable to change the lipid profile or the hemostatic and hematological parameters in the studied animals.

  15. Carbenoxolone treatment attenuates symptoms of metabolic syndrome and atherogenesis in obese, hyperlipidemic mice.

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    Nuotio-Antar, Alli M; Hachey, David L; Hasty, Alyssa H

    2007-12-01

    Glucocorticoids, which are well established to regulate body fat mass distribution, adipocyte lipolysis, hepatic gluconeogenesis, and hepatocyte VLDL secretion, are speculated to play a role in the pathology of metabolic syndrome. Recent focus has been on the activity of 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1), which is capable of regenerating, and thus amplifying, glucocorticoids in key metabolic tissues such as liver and adipose tissue. To determine the effects of global 11beta-HSD1 inhibition on metabolic syndrome risk factors, we subcutaneously injected "Western"-type diet-fed hyperlipidemic mice displaying moderate or severe obesity [LDL receptor (LDLR)-deficient (LDLR(-/-)) mice and mice derived from heterozygous agouti (A(y)/a) and homozygous LDLR(-/-) breeding pairs (A(y)/a;LDLR(-/-) mice)] with the nonselective 11beta-HSD inhibitor carbenoxolone for 4 wk. Body composition throughout the study, end-point fasting plasma, and extent of hepatic steatosis and atherosclerosis were assessed. This route of treatment led to detection of high levels of carbenoxolone in liver and fat and resulted in decreased weight gain due to reduced body fat mass in both mouse models. However, only A(y)/a;LDLR(-/-) mice showed an effect of 11beta-HSD1 inhibition on fasting insulin and plasma lipids, coincident with a reduction in VLDL due to mildly increased VLDL clearance and dramatically decreased hepatic triglyceride production. A(y)/a;LDLR(-/-) mice also showed a greater effect of the drug on reducing atherosclerotic lesion formation. These findings indicate that subcutaneous injection of an 11beta-HSD1 inhibitor allows for the targeting of the enzyme in not only liver, but also adipose tissue, and attenuates many metabolic syndrome risk factors, with more pronounced effects in cases of severe obesity and hyperlipidemia.

  16. Sulfation pattern of fucose branches affects the anti-hyperlipidemic activities of fucosylated chondroitin sulfate.

    Science.gov (United States)

    Wu, Nian; Zhang, Yu; Ye, Xingqian; Hu, Yaqin; Ding, Tian; Chen, Shiguo

    2016-08-20

    Fucosylated chondroitin sulfates (fCSs) are glycosaminoglycans extracted from sea cucumbers, consisting of chondroitin sulfate E (CSE) backbones and sulfated fucose branches. The biological properties of fCSs could be affected by the sulfation pattern of their fucose branches. In the present study, two fCSs were isolated from sea cucumbers Isostichopus badionotus (fCS-Ib) and Pearsonothuria graeffei (fCS-Pg). Their monosaccharide compositions of glucuronic acid (GlcA), N-acetylgalactosamine (GalNAc), fucose (Fuc) and sulfate were at similar molar ratio with 1.0/0.7/0.9/3.1 for fCS-Ib and 1.0/0.8/1.5/2.6 for fCS-Pg. The two fCSs have different sulfation patterns on their fucose branches, fCS-Pg with 3,4-O-disulfation while fCS-Ib with 2,4-O-disulfation. Their antihyperlipidemic effects were compared using a high-fat high-fructose diet (HFFD)-fed C57BL/6J mice model. Both fCS-Ib and fCS-Pg had significant effects on lipid profile improvement, liver protection, blood glucose diminution and hepatic glycogen synthesis. Specifically, fCS-Pg with 3,4-O-disulfation fucose branches was more effective in reduction of blood cholesterol (TC), low density lipoprotein (LDL) and atherogenic index (AI). Our results indicate that both fCSs, especially fCS-Pg, could be used as a potential anti-hyperlipidemic drug.

  17. Statin therapy and hepatotoxicity: Appraisal of the safety profile of atorvastatin in hyperlipidemic patients

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    Saeed Kalantari

    2014-01-01

    Full Text Available Background: Statins are one of the most frequently prescribed medications to reduce the risk of cardiovascular events. Statins appear to be safe however, there are contradictory data regarding their adverse effects, which might be due to genetic variation in their metabolism. Hence, this prospective study was aimed to evaluate the effects of atorvastatin on liver transaminase changes in a clinical setting, in north Iran. Materials and Methods: This prospective semi-experimental study was performed on hyperlipidemic adults in 2010-2011. Patients received atorvastatin (5-40 mg/d based on the American National Cholesterol Education Program guidelines. Liver aminotransferases were measured in three occasions of baseline, 8 and 16 weeks period. Results: A total of 206 patients were included in the study. Of which 178 were female and 30 were male. Alanine aminotransferase (ALT and aspartate aminotransferase (AST were in normal range before intervention in the majority, except in 25 (12.1% and 16 (7.8% of patients, respectively. In general, ALT and AST remained in normal range over the study period (23.3 IU/L and 21.8 IU/L, respectively. There was found no relationship between different doses of atorvastatin prescribed and ALT/AST changes in the patients. The males′ ALT means at baseline (26.9 IU/L, 8 weeks (30 IU/L and 16 weeks (28.8 IU/L after statin therapy were significantly higher than females (22 IU/L, 22.2 IU/L and 22.1 IU/L, respectively; P < 0.05 for all. Conclusion: The absence of any hepatic adverse effect in the present study supports safety of atorvastatin and emerging opinion that routine screening of liver function tests is not necessary in patients on statins.

  18. Znf202 affects high density lipoprotein cholesterol levels and promotes hepatosteatosis in hyperlipidemic mice.

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    Carlos L J Vrins

    Full Text Available BACKGROUND: The zinc finger protein Znf202 is a transcriptional suppressor of lipid related genes and has been linked to hypoalphalipoproteinemia. A functional role of Znf202 in lipid metabolism in vivo still remains to be established. METHODOLOGY AND PRINCIPAL FINDINGS: We generated mouse Znf202 expression vectors, the functionality of which was established in several in vitro systems. Next, effects of adenoviral znf202 overexpression in vivo were determined in normo- as well as hyperlipidemic mouse models. Znf202 overexpression in mouse hepatoma cells mhAT3F2 resulted in downregulation of members of the Apoe/c1/c2 and Apoa1/c3/a4 gene cluster. The repressive activity of Znf202 was firmly confirmed in an apoE reporter assay and Znf202 responsive elements within the ApoE promoter were identified. Adenoviral Znf202 transfer to Ldlr-/- mice resulted in downregulation of apoe, apoc1, apoa1, and apoc3 within 24 h after gene transfer. Interestingly, key genes in bile flux (abcg5/8 and bsep and in bile acid synthesis (cyp7a1 were also downregulated. At 5 days post-infection, the expression of the aforementioned genes was normalized, but mice had developed severe hepatosteatosis accompanied by hypercholesterolemia and hypoalphalipoproteinemia. A much milder phenotype was observed in wildtype mice after 5 days of hepatic Znf202 overexpression. Interestingly and similar to Ldl-/- mice, HDL-cholesterol levels in wildtype mice were lowered after hepatic Znf202 overexpression. CONCLUSION/SIGNIFICANCE: Znf202 overexpression in vivo reveals an important role of this transcriptional regulator in liver lipid homeostasis, while firmly establishing the proposed key role in the control of HDL levels.

  19. Heritability of sex tendency in a harpacticoid copepod, Tigriopus californicus.

    Science.gov (United States)

    Voordouw, Maarten J; Anholt, Bradley R

    2002-09-01

    Systems with genetic variation for the primary sex ratio are important for testing sex-ratio theory and for understanding how this variation is maintained. Evidence is presented for heritable variation of the primary sex ratio in the harpacticoid copepod Tigriopus californicus. Variation in the primary sex ratio among families cannot be accounted for by Mendelian segregation of sex chromosomes. The covariance in sex phenotype between full-sibling clutches and between mothers and offspring suggests that this variation has a polygenic basis. Averaged over four replicates, the full-sibling heritability of sex tendency is 0.13 +/- 0.040; and the mother-offspring heritability of sex tendency is 0.31 +/- 0.216. Genetic correlations in the sex phenotype across two temperature treatments indicate large genotype-by-temperature interactions. Future experiments need to distinguish between zygotic, parental, or cytoplasmic mechanisms of sex determination in T. californicus.

  20. nduced hyperlipidemic rats. Methods: Column chromatographic fractionation of butanol fraction of total methanol extract of leaves of Bauhinia variegata (Linn. yields four sub-fractions (sub-fraction A-D. All sub-fractions tested for their anti-hyperlipidemic activity. Sub-fractions administered at a dose of 65 mg/kg (oral to the Triton WR-1339 induced hyperlipidemic rats and total cholesterol, triglycerides, HDL, LDL and VLDL

    Directory of Open Access Journals (Sweden)

    Deepak Kumar

    2012-10-01

    Full Text Available Objective: To investigate the effect and evaluation of Anti-hyperlipidemic activity guided subfraction isolated from total methanolic extract of Bauhinia variegata (Linn. leaves on Triton WR-1339 induced hyperlipidemic rats. Methods: Column chromatographic fractionation of butanol fraction of total methanol extract of leaves of Bauhinia variegata (Linn. yields four subfractions (sub-fraction A-D. All sub-fractions tested for their anti-hyperlipidemic activity. Subfractions administered at a dose of 65 mg/kg (oral to the Triton WR-1339 induced hyperlipidemic rats and total cholesterol, triglycerides, HDL, LDL and VLDL level in the blood were checked. Results: Sub-fraction D showed significant reduction (P<0.05 among four sub-fraction in comparison with standard drug fenofibrate. Conclusions: From the above study it could be concluded that butanol sub-fraction D of Bauhinia variegata (Linn. not only have resulted in significant reduction in cholesterol, triglyceride, LDL, VLDL level but also increases the HDL level at a reduced dose level.

  1. The Human Microbiome and the Missing Heritability Problem

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    Santiago Sandoval-Motta

    2017-06-01

    Full Text Available The “missing heritability” problem states that genetic variants in Genome-Wide Association Studies (GWAS cannot completely explain the heritability of complex traits. Traditionally, the heritability of a phenotype is measured through familial studies using twins, siblings and other close relatives, making assumptions on the genetic similarities between them. When this heritability is compared to the one obtained through GWAS for the same traits, a substantial gap between both measurements arise with genome wide studies reporting significantly smaller values. Several mechanisms for this “missing heritability” have been proposed, such as epigenetics, epistasis, and sequencing depth. However, none of them are able to fully account for this gap in heritability. In this paper we provide evidence that suggests that in order for the phenotypic heritability of human traits to be broadly understood and accounted for, the compositional and functional diversity of the human microbiome must be taken into account. This hypothesis is based on several observations: (A The composition of the human microbiome is associated with many important traits, including obesity, cancer, and neurological disorders. (B Our microbiome encodes a second genome with nearly a 100 times more genes than the human genome, and this second genome may act as a rich source of genetic variation and phenotypic plasticity. (C Human genotypes interact with the composition and structure of our microbiome, but cannot by themselves explain microbial variation. (D Microbial genetic composition can be strongly influenced by the host's behavior, its environment or by vertical and horizontal transmissions from other hosts. Therefore, genetic similarities assumed in familial studies may cause overestimations of heritability values. We also propose a method that allows the compositional and functional diversity of our microbiome to be incorporated to genome wide association studies.

  2. Heritability of aerobic power of individuals in northeast Brazil.

    Science.gov (United States)

    Alonso, L; Souza, Ec; Oliveira, Mv; do Nascimento, Lfe; Dantas, Pms

    2014-12-01

    The objective of this study was to evaluate the genetic and environmental contribution to variation in aerobic power in monozygotic (MZ) and dizygotic (DZ) twins. The sample consisted of 20 MZ individuals (12 females and 8 males) and 16 DZ individuals (12 females and 4 males), aged from 8 to 26 years, residents in Natal, Rio Grande do Norte. The twins were assessed by a multistage fitness test. The rate of heritability found for aerobic power was 77%. Based on the results, the estimated heritability was largely responsible for the differences in aerobic power. This implies that such measures are under strong genetic influence.

  3. Hypolipidemic Effects of Aqueous Extract of Three Cultivars of Musa sapientum Fruit Peel on Poloxamer-407 Induced Hyperlipidemic Wistar Rats.

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    C EDENTA

    2014-12-01

    Full Text Available Objective: The effect of aqueous extracts of the ripped fruit peel of three cultivars of Musa sapientum (Saro, Ominni and Oranta on the lipid profile of normolipidemic and hyperlipidemic rats were examined. Methods: Aqueous peel extracts of the 3-cultivars of Musa sapientum (100mg/Kg bw were administered to normolipidemic and poloxamer-407 induced hyperlidemic rats (140-180g. Atorvastatin was used as standard drug (70 mg/Kg bw. Blood samples were collected for determination of plasma total cholesterol (Tc, triacylglycerides (TAG, low-density lipoprotein cholesterol (LDL-c and high-density lipoprotein cholesterol (HDL-c after 21-days in normolipidemic rats and 3-days in hyperlipidemic rats. Results: Normolipidemic rats treated with extract of Saro showed a significant (p0.05 difference when compared to the Atorvastatin and normal control groups. Conclusion: The findings in this study reveals Oranta cultivar of M. sapientum as a better potential drug candidate among the cultivars studied, hence could be useful for the treatment of hyperlipidemia and other cardiovascular related diseases.

  4. Anti-hyperlipidemic activity of Cucumis melo fruit peel extracts in high cholesterol diet induced hyperlipidemia in rats.

    Science.gov (United States)

    Bidkar, Jayant S; Ghanwat, Dhanaji Dadaso; Bhujbal, Madhuri D; Dama, Ganesh Y

    2012-09-24

    Abstract Cucumis melo Linn. (Cucurbitaceae) fruits have been used, traditionally in Indian traditional system of medicine, for the treatment of various disorders such as liver tonic, cardioprotective, antidiabetic, antiobesity, etc. The aim of the present study was to investigate the possible anti-hyperlipidemic activity of Cucumis melo fruit peel (CMFP) methanolic and aqueous extract in high cholesterol diet induced hyperlipidemia in rats. Treatment with CMFP methanolic and aqueous extract showed significant (P<0.01) reduction in gain in body weight, serum lipid profile like total cholesterol (TC), triglyceride (TG), low density lipoprotein cholesterol (LDL-C) level, atherogenic index and increased the serum high density lipoprotein cholesterol (HDL-C) levels in 28 days treatment when compared to the hyperlipidemic control group. The fecal excretion of bile acids and sterols was further increased upon treatment with CMFP methanolic and aqueous extract and standard drug. Administration of methanolic extract of CMFP at a dose of 500 mg/kg showed higher antihyperlipidemic activity as compared to other extract treated groups. The results concluded that CMFP methanolic extract (500 mg/kg) have potent antihyperlipidemic activity in high cholesterol diet induced hyperlipidemia model and which is equipotent activity when compared with atorvastatin treated group.

  5. Comparison of BISAP, Ranson, MCTSI, and APACHE II in Predicting Severity and Prognoses of Hyperlipidemic Acute Pancreatitis in Chinese Patients.

    Science.gov (United States)

    Yang, Lixin; Liu, Jing; Xing, Yun; Du, Lichuan; Chen, Jing; Liu, Xin; Hao, Jianyu

    2016-01-01

    In recent years, with the developing of living standard, hyperlipidemia becomes the second major reason of acute pancreatitis. It is important to predict the severity and prognosis at early stage of hyperlipidemic acute pancreatitis (HLAP). We compared the BISAP, Ranson, MCTSI, and APACHE II scoring system in predicting MSAP and SAP, local complications, and mortality of HLAP. A total of 326 diagnosed hyperlipidemic acute pancreatitis patients from August 2006 to July 2015 were studied retrospectively. Our result showed that all four scoring systems can be used to predict the severity, local complications, and mortality of HLAP. Ranson did not have significant advantage in predicting severity and prognosis of HLAP compared to other three scoring systems. APACHE II was the best in predicting severity of HLAP, but it had shortcoming in predicting local complications. MCTSI had outstanding performance in predicting local complications, but it was poor in predicting severity and mortality. BISAP score had high accuracy in assessment of severity, local complications, and mortality of HLAP, but the accuracy still needs to be improved in the future.

  6. Comparison of BISAP, Ranson, MCTSI, and APACHE II in Predicting Severity and Prognoses of Hyperlipidemic Acute Pancreatitis in Chinese Patients

    Directory of Open Access Journals (Sweden)

    Lixin Yang

    2016-01-01

    Full Text Available In recent years, with the developing of living standard, hyperlipidemia becomes the second major reason of acute pancreatitis. It is important to predict the severity and prognosis at early stage of hyperlipidemic acute pancreatitis (HLAP. We compared the BISAP, Ranson, MCTSI, and APACHE II scoring system in predicting MSAP and SAP, local complications, and mortality of HLAP. A total of 326 diagnosed hyperlipidemic acute pancreatitis patients from August 2006 to July 2015 were studied retrospectively. Our result showed that all four scoring systems can be used to predict the severity, local complications, and mortality of HLAP. Ranson did not have significant advantage in predicting severity and prognosis of HLAP compared to other three scoring systems. APACHE II was the best in predicting severity of HLAP, but it had shortcoming in predicting local complications. MCTSI had outstanding performance in predicting local complications, but it was poor in predicting severity and mortality. BISAP score had high accuracy in assessment of severity, local complications, and mortality of HLAP, but the accuracy still needs to be improved in the future.

  7. Effect of thyroid hormone status and concomitant medication on statin induced adverse effects in hyperlipidemic patients.

    Science.gov (United States)

    Berta, E; Harangi, M; Zsíros, N; Nagy, E V; Paragh, G; Bodor, M

    2014-06-01

    Statins are effective treatment for the prevention of cardiovascular diseases and used extensively worldwide. However, adverse effects induced by statins are the major barrier of maximalizing cardiovascular risk reduction. Hypothyroidism and administration of drugs metabolized on the same cytochrome P450 (CYPP450) pathways where statin biotransformation occurs represent a significant risk factor for statin induced adverse effects including myopathy. Simvastatin, atorvastatin and lovastatin are metabolized by CYP3A4, fluvastatin by CYP2C9, while rosuvastatin by CYP2C9 and 2C19. We investigated the levels of the free thyroid hormones and CYP metabolism of concomitant medication in 101 hyperlipidemic patients (age 61.3 +/- 9.9 ys) with statin induced adverse effects including myopathy (56 cases; 55.4%), hepatopathy (39 cases; 38.6%) and gastrointestinal adverse effects (24 cases; 23.8%). Abnormal thyroid hormone levels were found in 5 patients (4.95%); clinical hypothyroidism in 2 and hyperthyroidism in 3 cases. 11 patients had a positive history for hypothyroidism (10.9%). Myopathy occured in one patient with hypothyroidism and two patients with hyperthyroidism. There were no significant differences in the TSH, fT4 and fT3 levels between patients with statin induced myopathy and patients with other types of adverse effects. 78 patients (77.2%) were administered drugs metabolized by CYP isoforms also used by statins (3A4: 66 cases (65.3%); 2C9: 67 cases (66.3%); 2C19: 54 cases (53.5%)). Patients with myopathy took significantly more drugs metabolized by CYP3A4 compared to patients with other types of adverse effects (p statin induced adverse effects. Both abnormal thyroid hormone status and administration of drugs metabolized by CYP3A4, 2C9 and 2C19 are common in our patients with statin induced adverse effects. Normalizing the thyroid hormone status and optimizing of the concomitant medication may reduce the risk of statin induced adverse effects.

  8. Investigation of the tolerability of oral stevioside in Brazilian hyperlipidemic patients

    Directory of Open Access Journals (Sweden)

    Gisleine Elisa Cavalcante da Silva

    2006-07-01

    Full Text Available The tolerability of stevioside (2.75 mg/kg/day obtained from leaves of Stevia rebaudiana (Bert Bertoni (Compositae was investigated in hyperlipidemic patients. For this purpose a placebo controlled double blind study was performed. The patients were randomized in two groups: the first group received capsules containing placebo and the second group received capsules containing stevioside (50 mg during 90 days. All capsules were ingested twice daily, i.e., 2 capsules before lunch and 2 capsules before dinner. After the selection of the patients and each 30 days body mass index and laboratory tests (alanine aminotransferase, aspartate aminotransferase, gamma-glutamyltransferase, total cholesterol, high density lipoprotein, low density lipoprotein, very low density lipoprotein, triglycerides and glucose were performed. Stevioside did not show any clinical relevant modification in all parameters investigated. Moreover the patients did not report severe adverse effect. Thus, we can concluded that stevioside, at least in the doses employed in this study was safe.A tolerabilidade do esteviosideo (2.75 mg/kg/dia obtido a partir de folhas de Stevia rebaudiana (Bert Bertoni (Compositae foi investigada em pacientes hiperlipidêmicos. Para alcançar este objetivo realizamos estudo clínico do tipo duplo cego. Os pacientes foram randomizados em 2 grupos: o primeiro recebeu cápsulas contendo placebo e o segundo recebeu cápsulas contendo esteviosídeo (50 mg. Foram ingeridas duas cápsulas antes do almoço e duas cápsulas antes do jantar durante 90 dias. Após a seleção dos pacientes e a cada 30 dias o índice de massa corpórea e exames laboratoriais (alanina aminotransferase, aspartato aminotransferase, gama-glutamiltransferase, colesterol total, lipoproteína de alta densidade, lipoproteína de baixa densidade, lipoproteína de muito baixa densidade, trigliceridemia e glicemia foram realizados. O esteviosídeo não acarretou qualquer altera

  9. Heritability of cold tolerance in Nile tilapia, Oreochromis niloticus, juveniles

    NARCIS (Netherlands)

    Charo-Karisa, H.; Rezk, M.A.; Bovenhuis, H.; Komen, J.

    2005-01-01

    The inability of tilapia to tolerate low temperatures is of major economic concern as it reduces their growing season and leads to over winter mortality. In this study, cold tolerance of juvenile Nile tilapia, Oreochromis niloticus, was investigated and heritability estimates obtained. A total of 80

  10. Race/class : Jamaica's discourse of heritable identity

    Directory of Open Access Journals (Sweden)

    Diane J. Austin-Broos

    1994-07-01

    Full Text Available Argues that Jamaican notions of 'race' and 'class' can be rendered as a discourse of heritable biological and environmental identity. There has been a movement in the meaning of colour categories from an emphasis on biology, to a greater emphasis on environment. This transition has been encouraged by the emergence of class as a 20th-c. idiom.

  11. Equality in Educational Policy and the Heritability of Educational Attainment.

    Science.gov (United States)

    Colodro-Conde, Lucía; Rijsdijk, Frühling; Tornero-Gómez, María J; Sánchez-Romera, Juan F; Ordoñana, Juan R

    2015-01-01

    Secular variation in the heritability of educational attainment are proposed to be due to the implementation of more egalitarian educational policies leading to increased equality in educational opportunities in the second part of the 20th century. The action of effect is hypothesized to be a decrease of shared environmental (e.g., family socioeconomic status or parents' education) influences on educational attainment, giving more room for genetic differences between individuals to impact on the variation of the trait. However, this hypothesis has not yet found consistent evidence. Support for this effect relies mainly on comparisons between countries adopting different educational systems or between different time periods within a country reflecting changes in general policy. Using a population-based sample of 1271 pairs of adult twins, we analyzed the effect of the introduction of a specific educational policy in Spain in 1970. The shared-environmental variance decreased, leading to an increase in heritability in the post-reform cohort (44 vs. 67%) for males. Unstandardized estimates of genetic variance were of a similar magnitude (.56 vs. .57) between cohorts, while shared environmental variance decreased from .56 to .04. Heritability remained in the same range for women (40 vs. 34%). Our results support the role of educational policy in affecting the relative weight of genetic and environmental factors on educational attainment, such that increasing equality in educational opportunities increases heritability estimates by reducing variation of non-genetic familial origin.

  12. Heritability of decisions and outcomes of public goods games.

    Science.gov (United States)

    Hiraishi, Kai; Shikishima, Chizuru; Yamagata, Shinji; Ando, Juko

    2015-01-01

    Prosociality is one of the most distinctive features of human beings but there are individual differences in cooperative behavior. Employing the twin method, we examined the heritability of cooperativeness and its outcomes on public goods games using a strategy method. In two experiments (Study 1 and Study 2), twin participants were asked to indicate (1) how much they would contribute to a group when they did not know how much the other group members were contributing, and (2) how much they would contribute if they knew the contributions of others. Overall, the heritability estimates were relatively small for each type of decision, but heritability was greater when participants knew that the others had made larger contributions. Using registered decisions in Study 2, we conducted seven Monte Carlo simulations to examine genetic and environmental influences on the expected game payoffs. For the simulated one-shot game, the heritability estimates were small, comparable to those of game decisions. For the simulated iterated games, we found that the genetic influences first decreased, then increased as the numbers of iterations grew. The implication for the evolution of individual differences in prosociality is discussed.

  13. Equality in Educational Policy and the Heritability of Educational Attainment.

    Directory of Open Access Journals (Sweden)

    Lucía Colodro-Conde

    Full Text Available Secular variation in the heritability of educational attainment are proposed to be due to the implementation of more egalitarian educational policies leading to increased equality in educational opportunities in the second part of the 20th century. The action of effect is hypothesized to be a decrease of shared environmental (e.g., family socioeconomic status or parents' education influences on educational attainment, giving more room for genetic differences between individuals to impact on the variation of the trait. However, this hypothesis has not yet found consistent evidence. Support for this effect relies mainly on comparisons between countries adopting different educational systems or between different time periods within a country reflecting changes in general policy. Using a population-based sample of 1271 pairs of adult twins, we analyzed the effect of the introduction of a specific educational policy in Spain in 1970. The shared-environmental variance decreased, leading to an increase in heritability in the post-reform cohort (44 vs. 67% for males. Unstandardized estimates of genetic variance were of a similar magnitude (.56 vs. .57 between cohorts, while shared environmental variance decreased from .56 to .04. Heritability remained in the same range for women (40 vs. 34%. Our results support the role of educational policy in affecting the relative weight of genetic and environmental factors on educational attainment, such that increasing equality in educational opportunities increases heritability estimates by reducing variation of non-genetic familial origin.

  14. Heritability of decisions and outcomes of public goods games

    Directory of Open Access Journals (Sweden)

    Kai eHiraishi

    2015-04-01

    Full Text Available Prosociality is one of the most distinctive features of human beings but there are individual differences in cooperative behavior. Employing the twin method, we examined the heritability of cooperativeness and its outcomes on public goods games using a strategy method. In two experiments (Study 1 and Study 2, twin participants were asked to indicate 1 how much they would contribute to a group when they did not know how much the other group members were contributing, and 2 how much they would contribute if they knew the contributions of others. Overall, the heritability estimates were relatively small for each type of decision, but heritability was greater when participants knew that the others had made larger contributions. Using registered decisions in Study 2, we conducted five Monte Carlo simulations to examine genetic and environmental influences on the expected game payoffs. For the simulated one-shot game, the heritability estimates were small, comparable to those of game decisions. For the simulated iterated games, we found that the genetic influences first decreased, then increased as the numbers of iterations grew. The implication for the evolution of individual differences in prosociality is discussed.

  15. Partitioning heritability by functional category using GWAS summary statistics

    DEFF Research Database (Denmark)

    Finucane, Hilary K.; Bulik-Sullivan, Brendan; Gusev, Alexander

    2015-01-01

    in genome-wide association studies (GWAS) of 17 complex diseases and traits with an average sample size of 73,599. To enable this analysis, we introduce a new method, stratified LD score regression, for partitioning heritability from GWAS summary statistics while accounting for linked markers. This new...

  16. The heritability of chimpanzee and human brain asymmetry.

    Science.gov (United States)

    Gómez-Robles, Aida; Hopkins, William D; Schapiro, Steven J; Sherwood, Chet C

    2016-12-28

    Human brains are markedly asymmetric in structure and lateralized in function, which suggests a relationship between these two properties. The brains of other closely related primates, such as chimpanzees, show similar patterns of asymmetry, but to a lesser degree, indicating an increase in anatomical and functional asymmetry during hominin evolution. We analysed the heritability of cerebral asymmetry in chimpanzees and humans using classic morphometrics, geometric morphometrics, and quantitative genetic techniques. In our analyses, we separated directional asymmetry and fluctuating asymmetry (FA), which is indicative of environmental influences during development. We show that directional patterns of asymmetry, those that are consistently present in most individuals in a population, do not have significant heritability when measured through simple linear metrics, but they have marginally significant heritability in humans when assessed through three-dimensional configurations of landmarks that reflect variation in the size, position, and orientation of different cortical regions with respect to each other. Furthermore, genetic correlations between left and right hemispheres are substantially lower in humans than in chimpanzees, which points to a relatively stronger environmental influence on left-right differences in humans. We also show that the level of FA has significant heritability in both species in some regions of the cerebral cortex. This suggests that brain responsiveness to environmental influences, which may reflect neural plasticity, has genetic bases in both species. These results have implications for the evolvability of brain asymmetry and plasticity among humans and our close relatives.

  17. Heritability of telomere length in the Zebra Finch

    NARCIS (Netherlands)

    Atema, Els; Mulder, Ellis; Dugdale, Hannah L.; Briga, Michael; van Noordwijk, Arie J.; Verhulst, Simon

    2015-01-01

    Telomere length predicts survival in birds, and many stressors that presumably reduce fitness have also been linked to telomere length. The response to selection of telomere length will be largely determined by the heritability of this trait; however, little is known about the genetic component of t

  18. 40 CFR 798.5460 - Rodent heritable translocation assays.

    Science.gov (United States)

    2010-07-01

    ... 40 Protection of Environment 31 2010-07-01 2010-07-01 true Rodent heritable translocation assays. 798.5460 Section 798.5460 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) TOXIC...) Species. The mouse is the species generally used, and is recommended. (ii) Age. Healthy sexually...

  19. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types

    NARCIS (Netherlands)

    Sampson, Joshua N; Wheeler, William A; Yeager, Meredith; Panagiotou, Orestis; Wang, Zhaoming; Berndt, Sonja I; Lan, Qing; Abnet, Christian C; Amundadottir, Laufey T; Figueroa, Jonine D; Landi, Maria Teresa; Mirabello, Lisa; Savage, Sharon A; Taylor, Philip R; Vivo, Immaculata De; McGlynn, Katherine A; Purdue, Mark P; Rajaraman, Preetha; Adami, Hans-Olov; Ahlbom, Anders; Albanes, Demetrius; Amary, Maria Fernanda; An, She-Juan; Andersson, Ulrika; Andriole, Gerald; Andrulis, Irene L; Angelucci, Emanuele; Ansell, Stephen M; Arici, Cecilia; Armstrong, Bruce K; Arslan, Alan A; Austin, Melissa A; Baris, Dalsu; Barkauskas, Donald A; Bassig, Bryan A; Becker, Nikolaus; Benavente, Yolanda; Benhamou, Simone; Berg, Christine; Van Den Berg, David; Bernstein, Leslie; Bertrand, Kimberly A; Birmann, Brenda M; Black, Amanda; Boeing, Heiner; Boffetta, Paolo; Boutron-Ruault, Marie-Christine; Bracci, Paige M; Brinton, Louise; Brooks-Wilson, Angela R; Bueno-de-Mesquita, H Bas|info:eu-repo/dai/nl/06929528X; Burdett, Laurie; Buring, Julie; Butler, Mary Ann; Cai, Qiuyin; Cancel-Tassin, Geraldine; Canzian, Federico; Carrato, Alfredo; Carreon, Tania; Carta, Angela; Chan, John K C; Chang, Ellen T; Chang, Gee-Chen; Chang, I-Shou; Chang, Jiang; Chang-Claude, Jenny; Chen, Chien-Jen; Chen, Chih-Yi; Chen, Chu; Chen, Chung-Hsing; Chen, Constance; Chen, Hongyan; Chen, Kexin; Chen, Kuan-Yu; Chen, Kun-Chieh; Chen, Ying; Chen, Ying-Hsiang; Chen, Yi-Song; Chen, Yuh-Min; Chien, Li-Hsin; Chirlaque, María-Dolores; Choi, Jin Eun; Choi, Yi Young; Chow, Wong-Ho; Chung, Charles C; Clavel, Jacqueline; Clavel-Chapelon, Françoise; Cocco, Pierluigi; Colt, Joanne S; Comperat, Eva; Conde, Lucia; Connors, Joseph M; Conti, David; Cortessis, Victoria K; Cotterchio, Michelle; Cozen, Wendy; Crouch, Simon; Crous-Bou, Marta; Cussenot, Olivier; Davis, Faith G; Ding, Ti; Diver, W Ryan; Dorronsoro, Miren; Dossus, Laure; Duell, Eric J; Ennas, Maria Grazia; Erickson, Ralph L; Feychting, Maria; Flanagan, Adrienne M; Foretova, Lenka; Fraumeni, Joseph F; Freedman, Neal D; Beane Freeman, Laura E; Fuchs, Charles; Gago-Dominguez, Manuela; Gallinger, Steven; Gao, Yu-Tang; Gapstur, Susan M; Garcia-Closas, Montserrat; García-Closas, Reina; Gascoyne, Randy D; Gastier-Foster, Julie; Gaudet, Mia M; Gaziano, J Michael; Giffen, Carol; Giles, Graham G; Giovannucci, Edward; Glimelius, Bengt; Goggins, Michael; Gokgoz, Nalan; Goldstein, Alisa M; Gorlick, Richard; Gross, Myron; Grubb, Robert; Gu, Jian; Guan, Peng; Gunter, Marc; Guo, Huan; Habermann, Thomas M; Haiman, Christopher A; Halai, Dina; Hallmans, Goran; Hassan, Manal; Hattinger, Claudia; He, Qincheng; He, Xingzhou; Helzlsouer, Kathy; Henderson, Brian; Henriksson, Roger; Hjalgrim, Henrik; Hoffman-Bolton, Judith; Hohensee, Chancellor; Holford, Theodore R; Holly, Elizabeth A; Hong, Yun-Chul; Hoover, Robert N; Horn-Ross, Pamela L; Hosain, G M Monawar; Hosgood, H Dean; Hsiao, Chin-Fu; Hu, Nan; Hu, Wei; Hu, Zhibin; Huang, Ming-Shyan; Huerta, Jose-Maria; Hung, Jen-Yu; Hutchinson, Amy; Inskip, Peter D; Jackson, Rebecca D; Jacobs, Eric J; Jenab, Mazda; Jeon, Hyo-Sung; Ji, Bu-Tian; Jin, Guangfu; Jin, Li; Johansen, Christoffer; Johnson, Alison; Jung, Yoo Jin; Kaaks, Rudolph; Kamineni, Aruna; Kane, Eleanor; Kang, Chang Hyun; Karagas, Margaret R; Kelly, Rachel S; Khaw, Kay-Tee; Kim, Christopher; Kim, Hee Nam; Kim, Jin Hee; Kim, Jun Suk; Kim, Yeul Hong; Kim, Young Tae; Kim, Young-Chul; Kitahara, Cari M; Klein, Alison P; Klein, Robert J; Kogevinas, Manolis; Kohno, Takashi; Kolonel, Laurence N; Kooperberg, Charles; Kricker, Anne; Krogh, Vittorio; Kunitoh, Hideo; Kurtz, Robert C; Kweon, Sun-Seog; LaCroix, Andrea; Lawrence, Charles; Lecanda, Fernando; Lee, Victor Ho Fun; Li, Donghui; Li, Haixin; Li, Jihua; Li, Yao-Jen; Li, Yuqing; Liao, Linda M; Liebow, Mark; Lightfoot, Tracy; Lim, Wei-Yen; Lin, Chien-Chung; Lin, Dongxin; Lindstrom, Sara; Linet, Martha S; Link, Brian K; Liu, Chenwei; Liu, Jianjun; Liu, Li; Ljungberg, Börje; Lloreta, Josep; Lollo, Simonetta Di; Lu, Daru; Lund, Eiluv; Malats, Nuria; Mannisto, Satu; Marchand, Loic Le; Marina, Neyssa; Masala, Giovanna; Mastrangelo, Giuseppe; Matsuo, Keitaro; Maynadie, Marc; McKay, James; McKean-Cowdin, Roberta; Melbye, Mads; Melin, Beatrice S; Michaud, Dominique S; Mitsudomi, Tetsuya; Monnereau, Alain; Montalvan, Rebecca; Moore, Lee E; Mortensen, Lotte Maxild; Nieters, Alexandra; North, Kari E; Novak, Anne J; Oberg, Ann L; Offit, Kenneth; Oh, In-Jae; Olson, Sara H; Palli, Domenico; Pao, William; Park, In Kyu; Park, Jae Yong; Park, Kyong Hwa; Patiño-Garcia, Ana; Pavanello, Sofia; Peeters, Petra H M|info:eu-repo/dai/nl/074099655; Perng, Reury-Perng; Peters, Ulrike; Petersen, Gloria M; Picci, Piero; Pike, Malcolm C; Porru, Stefano; Prescott, Jennifer; Prokunina-Olsson, Ludmila; Qian, Biyun; Qiao, You-Lin; Rais, Marco; Riboli, Elio; Riby, Jacques; Risch, Harvey A; Rizzato, Cosmeri; Rodabough, Rebecca; Roman, Eve; Roupret, Morgan; Ruder, Avima M; Sanjose, Silvia de; Scelo, Ghislaine; Schned, Alan; Schumacher, Fredrick; Schwartz, Kendra; Schwenn, Molly; Scotlandi, Katia; Seow, Adeline; Serra, Consol; Serra, Massimo; Sesso, Howard D; Setiawan, Veronica Wendy; Severi, Gianluca; Severson, Richard K; Shanafelt, Tait D; Shen, Hongbing; Shen, Wei; Shin, Min-Ho; Shiraishi, Kouya; Shu, Xiao-Ou; Siddiq, Afshan; Sierrasesúmaga, Luis; Sihoe, Alan Dart Loon; Skibola, Christine F; Smith, Alex; Smith, Martyn T; Southey, Melissa C; Spinelli, John J; Staines, Anthony; Stampfer, Meir; Stern, Marianna C; Stevens, Victoria L; Stolzenberg-Solomon, Rachael S; Su, Jian; Su, Wu-Chou; Sund, Malin; Sung, Jae Sook; Sung, Sook Whan; Tan, Wen; Tang, Wei; Tardón, Adonina; Thomas, David; Thompson, Carrie A; Tinker, Lesley F; Tirabosco, Roberto; Tjønneland, Anne; Travis, Ruth C; Trichopoulos, Dimitrios; Tsai, Fang-Yu; Tsai, Ying-Huang; Tucker, Margaret; Turner, Jenny; Vajdic, Claire M; Vermeulen, Roel C H; Villano, Danylo J; Vineis, Paolo; Virtamo, Jarmo; Visvanathan, Kala; Wactawski-Wende, Jean; Wang, Chaoyu; Wang, Chih-Liang; Wang, Jiu-Cun; Wang, Junwen; Wei, Fusheng; Weiderpass, Elisabete; Weiner, George J; Weinstein, Stephanie; Wentzensen, Nicolas; White, Emily; Witzig, Thomas E; Wolpin, Brian M; Wong, Maria Pik; Wu, Chen; Wu, Guoping; Wu, Junjie; Wu, Tangchun; Wu, Wei; Wu, Xifeng; Wu, Yi-Long; Wunder, Jay S; Xiang, Yong-Bing; Xu, Jun; Xu, Ping; Yang, Pan-Chyr; Yang, Tsung-Ying; Ye, Yuanqing; Yin, Zhihua; Yokota, Jun; Yoon, Ho-Il; Yu, Chong-Jen; Yu, Herbert; Yu, Kai; Yuan, Jian-Min; Zelenetz, Andrew; Zeleniuch-Jacquotte, Anne; Zhang, Xu-Chao; Zhang, Yawei; Zhao, Xueying; Zhao, Zhenhong; Zheng, Hong; Zheng, Tongzhang; Zheng, Wei; Zhou, Baosen; Zhu, Meng; Zucca, Mariagrazia; Boca, Simina M; Cerhan, James R; Ferri, Giovanni M; Hartge, Patricia; Hsiung, Chao Agnes; Magnani, Corrado; Miligi, Lucia; Morton, Lindsay M; Smedby, Karin E; Teras, Lauren R; Vijai, Joseph; Wang, Sophia S; Brennan, Paul; Caporaso, Neil E; Hunter, David J; Kraft, Peter; Rothman, Nathaniel; Silverman, Debra T; Slager, Susan L; Chanock, Stephen J; Chatterjee, Nilanjan

    2015-01-01

    BACKGROUND: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. METHO

  20. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types

    NARCIS (Netherlands)

    Sampson, Joshua N; Wheeler, William A; Yeager, Meredith; Panagiotou, Orestis; Wang, Zhaoming; Berndt, Sonja I; Lan, Qing; Abnet, Christian C; Amundadottir, Laufey T; Figueroa, Jonine D; Landi, Maria Teresa; Mirabello, Lisa; Savage, Sharon A; Taylor, Philip R; Vivo, Immaculata De; McGlynn, Katherine A; Purdue, Mark P; Rajaraman, Preetha; Adami, Hans-Olov; Ahlbom, Anders; Albanes, Demetrius; Amary, Maria Fernanda; An, She-Juan; Andersson, Ulrika; Andriole, Gerald; Andrulis, Irene L; Angelucci, Emanuele; Ansell, Stephen M; Arici, Cecilia; Armstrong, Bruce K; Arslan, Alan A; Austin, Melissa A; Baris, Dalsu; Barkauskas, Donald A; Bassig, Bryan A; Becker, Nikolaus; Benavente, Yolanda; Benhamou, Simone; Berg, Christine; Van Den Berg, David; Bernstein, Leslie; Bertrand, Kimberly A; Birmann, Brenda M; Black, Amanda; Boeing, Heiner; Boffetta, Paolo; Boutron-Ruault, Marie-Christine; Bracci, Paige M; Brinton, Louise; Brooks-Wilson, Angela R; Bueno-de-Mesquita, H Bas; Burdett, Laurie; Buring, Julie; Butler, Mary Ann; Cai, Qiuyin; Cancel-Tassin, Geraldine; Canzian, Federico; Carrato, Alfredo; Carreon, Tania; Carta, Angela; Chan, John K C; Chang, Ellen T; Chang, Gee-Chen; Chang, I-Shou; Chang, Jiang; Chang-Claude, Jenny; Chen, Chien-Jen; Chen, Chih-Yi; Chen, Chu; Chen, Chung-Hsing; Chen, Constance; Chen, Hongyan; Chen, Kexin; Chen, Kuan-Yu; Chen, Kun-Chieh; Chen, Ying; Chen, Ying-Hsiang; Chen, Yi-Song; Chen, Yuh-Min; Chien, Li-Hsin; Chirlaque, María-Dolores; Choi, Jin Eun; Choi, Yi Young; Chow, Wong-Ho; Chung, Charles C; Clavel, Jacqueline; Clavel-Chapelon, Françoise; Cocco, Pierluigi; Colt, Joanne S; Comperat, Eva; Conde, Lucia; Connors, Joseph M; Conti, David; Cortessis, Victoria K; Cotterchio, Michelle; Cozen, Wendy; Crouch, Simon; Crous-Bou, Marta; Cussenot, Olivier; Davis, Faith G; Ding, Ti; Diver, W Ryan; Dorronsoro, Miren; Dossus, Laure; Duell, Eric J; Ennas, Maria Grazia; Erickson, Ralph L; Feychting, Maria; Flanagan, Adrienne M; Foretova, Lenka; Fraumeni, Joseph F; Freedman, Neal D; Beane Freeman, Laura E; Fuchs, Charles; Gago-Dominguez, Manuela; Gallinger, Steven; Gao, Yu-Tang; Gapstur, Susan M; Garcia-Closas, Montserrat; García-Closas, Reina; Gascoyne, Randy D; Gastier-Foster, Julie; Gaudet, Mia M; Gaziano, J Michael; Giffen, Carol; Giles, Graham G; Giovannucci, Edward; Glimelius, Bengt; Goggins, Michael; Gokgoz, Nalan; Goldstein, Alisa M; Gorlick, Richard; Gross, Myron; Grubb, Robert; Gu, Jian; Guan, Peng; Gunter, Marc; Guo, Huan; Habermann, Thomas M; Haiman, Christopher A; Halai, Dina; Hallmans, Goran; Hassan, Manal; Hattinger, Claudia; He, Qincheng; He, Xingzhou; Helzlsouer, Kathy; Henderson, Brian; Henriksson, Roger; Hjalgrim, Henrik; Hoffman-Bolton, Judith; Hohensee, Chancellor; Holford, Theodore R; Holly, Elizabeth A; Hong, Yun-Chul; Hoover, Robert N; Horn-Ross, Pamela L; Hosain, G M Monawar; Hosgood, H Dean; Hsiao, Chin-Fu; Hu, Nan; Hu, Wei; Hu, Zhibin; Huang, Ming-Shyan; Huerta, Jose-Maria; Hung, Jen-Yu; Hutchinson, Amy; Inskip, Peter D; Jackson, Rebecca D; Jacobs, Eric J; Jenab, Mazda; Jeon, Hyo-Sung; Ji, Bu-Tian; Jin, Guangfu; Jin, Li; Johansen, Christoffer; Johnson, Alison; Jung, Yoo Jin; Kaaks, Rudolph; Kamineni, Aruna; Kane, Eleanor; Kang, Chang Hyun; Karagas, Margaret R; Kelly, Rachel S; Khaw, Kay-Tee; Kim, Christopher; Kim, Hee Nam; Kim, Jin Hee; Kim, Jun Suk; Kim, Yeul Hong; Kim, Young Tae; Kim, Young-Chul; Kitahara, Cari M; Klein, Alison P; Klein, Robert J; Kogevinas, Manolis; Kohno, Takashi; Kolonel, Laurence N; Kooperberg, Charles; Kricker, Anne; Krogh, Vittorio; Kunitoh, Hideo; Kurtz, Robert C; Kweon, Sun-Seog; LaCroix, Andrea; Lawrence, Charles; Lecanda, Fernando; Lee, Victor Ho Fun; Li, Donghui; Li, Haixin; Li, Jihua; Li, Yao-Jen; Li, Yuqing; Liao, Linda M; Liebow, Mark; Lightfoot, Tracy; Lim, Wei-Yen; Lin, Chien-Chung; Lin, Dongxin; Lindstrom, Sara; Linet, Martha S; Link, Brian K; Liu, Chenwei; Liu, Jianjun; Liu, Li; Ljungberg, Börje; Lloreta, Josep; Lollo, Simonetta Di; Lu, Daru; Lund, Eiluv; Malats, Nuria; Mannisto, Satu; Marchand, Loic Le; Marina, Neyssa; Masala, Giovanna; Mastrangelo, Giuseppe; Matsuo, Keitaro; Maynadie, Marc; McKay, James; McKean-Cowdin, Roberta; Melbye, Mads; Melin, Beatrice S; Michaud, Dominique S; Mitsudomi, Tetsuya; Monnereau, Alain; Montalvan, Rebecca; Moore, Lee E; Mortensen, Lotte Maxild; Nieters, Alexandra; North, Kari E; Novak, Anne J; Oberg, Ann L; Offit, Kenneth; Oh, In-Jae; Olson, Sara H; Palli, Domenico; Pao, William; Park, In Kyu; Park, Jae Yong; Park, Kyong Hwa; Patiño-Garcia, Ana; Pavanello, Sofia; Peeters, Petra H M; Perng, Reury-Perng; Peters, Ulrike; Petersen, Gloria M; Picci, Piero; Pike, Malcolm C; Porru, Stefano; Prescott, Jennifer; Prokunina-Olsson, Ludmila; Qian, Biyun; Qiao, You-Lin; Rais, Marco; Riboli, Elio; Riby, Jacques; Risch, Harvey A; Rizzato, Cosmeri; Rodabough, Rebecca; Roman, Eve; Roupret, Morgan; Ruder, Avima M; Sanjose, Silvia de; Scelo, Ghislaine; Schned, Alan; Schumacher, Fredrick; Schwartz, Kendra; Schwenn, Molly; Scotlandi, Katia; Seow, Adeline; Serra, Consol; Serra, Massimo; Sesso, Howard D; Setiawan, Veronica Wendy; Severi, Gianluca; Severson, Richard K; Shanafelt, Tait D; Shen, Hongbing; Shen, Wei; Shin, Min-Ho; Shiraishi, Kouya; Shu, Xiao-Ou; Siddiq, Afshan; Sierrasesúmaga, Luis; Sihoe, Alan Dart Loon; Skibola, Christine F; Smith, Alex; Smith, Martyn T; Southey, Melissa C; Spinelli, John J; Staines, Anthony; Stampfer, Meir; Stern, Marianna C; Stevens, Victoria L; Stolzenberg-Solomon, Rachael S; Su, Jian; Su, Wu-Chou; Sund, Malin; Sung, Jae Sook; Sung, Sook Whan; Tan, Wen; Tang, Wei; Tardón, Adonina; Thomas, David; Thompson, Carrie A; Tinker, Lesley F; Tirabosco, Roberto; Tjønneland, Anne; Travis, Ruth C; Trichopoulos, Dimitrios; Tsai, Fang-Yu; Tsai, Ying-Huang; Tucker, Margaret; Turner, Jenny; Vajdic, Claire M; Vermeulen, Roel C H; Villano, Danylo J; Vineis, Paolo; Virtamo, Jarmo; Visvanathan, Kala; Wactawski-Wende, Jean; Wang, Chaoyu; Wang, Chih-Liang; Wang, Jiu-Cun; Wang, Junwen; Wei, Fusheng; Weiderpass, Elisabete; Weiner, George J; Weinstein, Stephanie; Wentzensen, Nicolas; White, Emily; Witzig, Thomas E; Wolpin, Brian M; Wong, Maria Pik; Wu, Chen; Wu, Guoping; Wu, Junjie; Wu, Tangchun; Wu, Wei; Wu, Xifeng; Wu, Yi-Long; Wunder, Jay S; Xiang, Yong-Bing; Xu, Jun; Xu, Ping; Yang, Pan-Chyr; Yang, Tsung-Ying; Ye, Yuanqing; Yin, Zhihua; Yokota, Jun; Yoon, Ho-Il; Yu, Chong-Jen; Yu, Herbert; Yu, Kai; Yuan, Jian-Min; Zelenetz, Andrew; Zeleniuch-Jacquotte, Anne; Zhang, Xu-Chao; Zhang, Yawei; Zhao, Xueying; Zhao, Zhenhong; Zheng, Hong; Zheng, Tongzhang; Zheng, Wei; Zhou, Baosen; Zhu, Meng; Zucca, Mariagrazia; Boca, Simina M; Cerhan, James R; Ferri, Giovanni M; Hartge, Patricia; Hsiung, Chao Agnes; Magnani, Corrado; Miligi, Lucia; Morton, Lindsay M; Smedby, Karin E; Teras, Lauren R; Vijai, Joseph; Wang, Sophia S; Brennan, Paul; Caporaso, Neil E; Hunter, David J; Kraft, Peter; Rothman, Nathaniel; Silverman, Debra T; Slager, Susan L; Chanock, Stephen J; Chatterjee, Nilanjan

    2015-01-01

    BACKGROUND: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. METHO

  1. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types

    Science.gov (United States)

    Wheeler, William A.; Yeager, Meredith; Panagiotou, Orestis; Wang, Zhaoming; Berndt, Sonja I.; Lan, Qing; Abnet, Christian C.; Amundadottir, Laufey T.; Figueroa, Jonine D.; Landi, Maria Teresa; Mirabello, Lisa; Savage, Sharon A.; Taylor, Philip R.; Vivo, Immaculata De; McGlynn, Katherine A.; Purdue, Mark P.; Rajaraman, Preetha; Adami, Hans-Olov; Ahlbom, Anders; Albanes, Demetrius; Amary, Maria Fernanda; An, She-Juan; Andersson, Ulrika; Andriole, Gerald; Andrulis, Irene L.; Angelucci, Emanuele; Ansell, Stephen M.; Arici, Cecilia; Armstrong, Bruce K.; Arslan, Alan A.; Austin, Melissa A.; Baris, Dalsu; Barkauskas, Donald A.; Bassig, Bryan A.; Becker, Nikolaus; Benavente, Yolanda; Benhamou, Simone; Berg, Christine; Van Den Berg, David; Bernstein, Leslie; Bertrand, Kimberly A.; Birmann, Brenda M.; Black, Amanda; Boeing, Heiner; Boffetta, Paolo; Boutron-Ruault, Marie-Christine; Bracci, Paige M.; Brinton, Louise; Brooks-Wilson, Angela R.; Bueno-de-Mesquita, H. Bas; Burdett, Laurie; Buring, Julie; Butler, Mary Ann; Cai, Qiuyin; Cancel-Tassin, Geraldine; Canzian, Federico; Carrato, Alfredo; Carreon, Tania; Carta, Angela; Chan, John K. C.; Chang, Ellen T.; Chang, Gee-Chen; Chang, I-Shou; Chang, Jiang; Chang-Claude, Jenny; Chen, Chien-Jen; Chen, Chih-Yi; Chen, Chu; Chen, Chung-Hsing; Chen, Constance; Chen, Hongyan; Chen, Kexin; Chen, Kuan-Yu; Chen, Kun-Chieh; Chen, Ying; Chen, Ying-Hsiang; Chen, Yi-Song; Chen, Yuh-Min; Chien, Li-Hsin; Chirlaque, María-Dolores; Choi, Jin Eun; Choi, Yi Young; Chow, Wong-Ho; Chung, Charles C.; Clavel, Jacqueline; Clavel-Chapelon, Françoise; Cocco, Pierluigi; Colt, Joanne S.; Comperat, Eva; Conde, Lucia; Connors, Joseph M.; Conti, David; Cortessis, Victoria K.; Cotterchio, Michelle; Cozen, Wendy; Crouch, Simon; Crous-Bou, Marta; Cussenot, Olivier; Davis, Faith G.; Ding, Ti; Diver, W. Ryan; Dorronsoro, Miren; Dossus, Laure; Duell, Eric J.; Ennas, Maria Grazia; Erickson, Ralph L.; Feychting, Maria; Flanagan, Adrienne M.; Foretova, Lenka; Fraumeni, Joseph F.; Freedman, Neal D.; Beane Freeman, Laura E.; Fuchs, Charles; Gago-Dominguez, Manuela; Gallinger, Steven; Gao, Yu-Tang; Gapstur, Susan M.; Garcia-Closas, Montserrat; García-Closas, Reina; Gascoyne, Randy D.; Gastier-Foster, Julie; Gaudet, Mia M.; Gaziano, J. Michael; Giffen, Carol; Giles, Graham G.; Giovannucci, Edward; Glimelius, Bengt; Goggins, Michael; Gokgoz, Nalan; Goldstein, Alisa M.; Gorlick, Richard; Gross, Myron; Grubb, Robert; Gu, Jian; Guan, Peng; Gunter, Marc; Guo, Huan; Habermann, Thomas M.; Haiman, Christopher A.; Halai, Dina; Hallmans, Goran; Hassan, Manal; Hattinger, Claudia; He, Qincheng; He, Xingzhou; Helzlsouer, Kathy; Henderson, Brian; Henriksson, Roger; Hjalgrim, Henrik; Hoffman-Bolton, Judith; Hohensee, Chancellor; Holford, Theodore R.; Holly, Elizabeth A.; Hong, Yun-Chul; Hoover, Robert N.; Horn-Ross, Pamela L.; Hosain, G. M. Monawar; Hosgood, H. Dean; Hsiao, Chin-Fu; Hu, Nan; Hu, Wei; Hu, Zhibin; Huang, Ming-Shyan; Huerta, Jose-Maria; Hung, Jen-Yu; Hutchinson, Amy; Inskip, Peter D.; Jackson, Rebecca D.; Jacobs, Eric J.; Jenab, Mazda; Jeon, Hyo-Sung; Ji, Bu-Tian; Jin, Guangfu; Jin, Li; Johansen, Christoffer; Johnson, Alison; Jung, Yoo Jin; Kaaks, Rudolph; Kamineni, Aruna; Kane, Eleanor; Kang, Chang Hyun; Karagas, Margaret R.; Kelly, Rachel S.; Khaw, Kay-Tee; Kim, Christopher; Kim, Hee Nam; Kim, Jin Hee; Kim, Jun Suk; Kim, Yeul Hong; Kim, Young Tae; Kim, Young-Chul; Kitahara, Cari M.; Klein, Alison P.; Klein, Robert J.; Kogevinas, Manolis; Kohno, Takashi; Kolonel, Laurence N.; Kooperberg, Charles; Kricker, Anne; Krogh, Vittorio; Kunitoh, Hideo; Kurtz, Robert C.; Kweon, Sun-Seog; LaCroix, Andrea; Lawrence, Charles; Lecanda, Fernando; Lee, Victor Ho Fun; Li, Donghui; Li, Haixin; Li, Jihua; Li, Yao-Jen; Li, Yuqing; Liao, Linda M.; Liebow, Mark; Lightfoot, Tracy; Lim, Wei-Yen; Lin, Chien-Chung; Lin, Dongxin; Lindstrom, Sara; Linet, Martha S.; Link, Brian K.; Liu, Chenwei; Liu, Jianjun; Liu, Li; Ljungberg, Börje; Lloreta, Josep; Lollo, Simonetta Di; Lu, Daru; Lund, Eiluv; Malats, Nuria; Mannisto, Satu; Marchand, Loic Le; Marina, Neyssa; Masala, Giovanna; Mastrangelo, Giuseppe; Matsuo, Keitaro; Maynadie, Marc; McKay, James; McKean-Cowdin, Roberta; Melbye, Mads; Melin, Beatrice S.; Michaud, Dominique S.; Mitsudomi, Tetsuya; Monnereau, Alain; Montalvan, Rebecca; Moore, Lee E.; Mortensen, Lotte Maxild; Nieters, Alexandra; North, Kari E.; Novak, Anne J.; Oberg, Ann L.; Offit, Kenneth; Oh, In-Jae; Olson, Sara H.; Palli, Domenico; Pao, William; Park, In Kyu; Park, Jae Yong; Park, Kyong Hwa; Patiño-Garcia, Ana; Pavanello, Sofia; Peeters, Petra H. M.; Perng, Reury-Perng; Peters, Ulrike; Petersen, Gloria M.; Picci, Piero; Pike, Malcolm C.; Porru, Stefano; Prescott, Jennifer; Prokunina-Olsson, Ludmila; Qian, Biyun; Qiao, You-Lin; Rais, Marco; Riboli, Elio; Riby, Jacques; Risch, Harvey A.; Rizzato, Cosmeri; Rodabough, Rebecca; Roman, Eve; Roupret, Morgan; Ruder, Avima M.; de Sanjose, Silvia; Scelo, Ghislaine; Schned, Alan; Schumacher, Fredrick; Schwartz, Kendra; Schwenn, Molly; Scotlandi, Katia; Seow, Adeline; Serra, Consol; Serra, Massimo; Sesso, Howard D.; Setiawan, Veronica Wendy; Severi, Gianluca; Severson, Richard K.; Shanafelt, Tait D.; Shen, Hongbing; Shen, Wei; Shin, Min-Ho; Shiraishi, Kouya; Shu, Xiao-Ou; Siddiq, Afshan; Sierrasesúmaga, Luis; Sihoe, Alan Dart Loon; Skibola, Christine F.; Smith, Alex; Smith, Martyn T.; Southey, Melissa C.; Spinelli, John J.; Staines, Anthony; Stampfer, Meir; Stern, Marianna C.; Stevens, Victoria L.; Stolzenberg-Solomon, Rachael S.; Su, Jian; Su, Wu-Chou; Sund, Malin; Sung, Jae Sook; Sung, Sook Whan; Tan, Wen; Tang, Wei; Tardón, Adonina; Thomas, David; Thompson, Carrie A.; Tinker, Lesley F.; Tirabosco, Roberto; Tjønneland, Anne; Travis, Ruth C.; Trichopoulos, Dimitrios; Tsai, Fang-Yu; Tsai, Ying-Huang; Tucker, Margaret; Turner, Jenny; Vajdic, Claire M.; Vermeulen, Roel C. H.; Villano, Danylo J.; Vineis, Paolo; Virtamo, Jarmo; Visvanathan, Kala; Wactawski-Wende, Jean; Wang, Chaoyu; Wang, Chih-Liang; Wang, Jiu-Cun; Wang, Junwen; Wei, Fusheng; Weiderpass, Elisabete; Weiner, George J.; Weinstein, Stephanie; Wentzensen, Nicolas; White, Emily; Witzig, Thomas E.; Wolpin, Brian M.; Wong, Maria Pik; Wu, Chen; Wu, Guoping; Wu, Junjie; Wu, Tangchun; Wu, Wei; Wu, Xifeng; Wu, Yi-Long; Wunder, Jay S.; Xiang, Yong-Bing; Xu, Jun; Xu, Ping; Yang, Pan-Chyr; Yang, Tsung-Ying; Ye, Yuanqing; Yin, Zhihua; Yokota, Jun; Yoon, Ho-Il; Yu, Chong-Jen; Yu, Herbert; Yu, Kai; Yuan, Jian-Min; Zelenetz, Andrew; Zeleniuch-Jacquotte, Anne; Zhang, Xu-Chao; Zhang, Yawei; Zhao, Xueying; Zhao, Zhenhong; Zheng, Hong; Zheng, Tongzhang; Zheng, Wei; Zhou, Baosen; Zhu, Meng; Zucca, Mariagrazia; Boca, Simina M.; Cerhan, James R.; Ferri, Giovanni M.; Hartge, Patricia; Hsiung, Chao Agnes; Magnani, Corrado; Miligi, Lucia; Morton, Lindsay M.; Smedby, Karin E.; Teras, Lauren R.; Vijai, Joseph; Wang, Sophia S.; Brennan, Paul; Caporaso, Neil E.; Hunter, David J.; Kraft, Peter; Rothman, Nathaniel; Silverman, Debra T.; Slager, Susan L.; Chanock, Stephen J.; Chatterjee, Nilanjan

    2015-01-01

    Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, hl 2, on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (ρ = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (ρ = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (ρ = 0.51, SE =0.18), and bladder and lung (ρ = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our

  2. Heritability of cortisol response to confinement stress in European sea bass dicentrarchus labrax

    NARCIS (Netherlands)

    Volckaert, F.A.M.; Hellemans, B.; Batargias, C.; Louro, B.; Massault, C.; Houdt, Van J.K.J.; Haley, C.; Koning, de D.J.; Canario, A.V.M.

    2012-01-01

    Background: In fish, the most studied production traits in terms of heritability are body weight or growth, stress or disease resistance, while heritability of cortisol levels, widely used as a measure of response to stress, is less studied. In this study, we have estimated heritabilities of two gro

  3. Hypolipidemic and Antioxidant Effects of Malus toringoides (Rehd.) Hughes Leaves in High-Fat-Diet-Induced Hyperlipidemic Rats.

    Science.gov (United States)

    Huang, Shan; Liu, Haifeng; Meng, Ning; Li, Bin; Wang, Jule

    2017-03-01

    Malus toringoides (Rehd.) Hughes (MT) leaves are traditionally used as a medicine for treating or preventing cardiovascular disease in Tibet. In addition to the effect of this medicinal plant on thrombosis, we tested its effect on dyslipidemia in a hypolipidemic rat model. A total of 60 healthy Sprague-Dawley rats were randomly divided into six groups, as follows: normal control, model control, simvastatin groups, and MT low-, medium-, and high-dose groups. The normal controls were fed with a normal diet, whereas all other groups were fed with a high-fat diet. After 6 weeks, the high-fat diet had induced hyperlipidemia in the rats, which were then orally administered with different doses of MT leaf extract (50, 100, and 200 mg/kg) for an additional 6 weeks. Serum levels of total cholesterol (TC), triglycerides (TG), low- and high-density lipoprotein cholesterol (LDL-c and HDL-c, respectively), as well as the antioxidant capacity of glutathione peroxidase (GSHP-x), superoxide dismutase (SOD), and malondialdehyde (MDA) were measured at the end of the study. MT significantly reduced serum TC, TG, and LDL-c and increased the HDL-c content in MT-treated rats compared with the model group. These changes were dose dependent. MT treatment also significantly elevated the activity of SOD and GSHP-x, and decreased the serum levels of MDA compared with untreated hyperlipidemic rats, thereby increasing serum antioxidant capacity. In addition, MT reduced liver steatosis in hyperlipidemic rats. Overall, MT exerts considerable hypolipidemic and antioxidant properties.

  4. BAFF receptor mAb treatment ameliorates development and progression of atherosclerosis in hyperlipidemic ApoE(-/- mice.

    Directory of Open Access Journals (Sweden)

    Tin Kyaw

    Full Text Available AIMS: Option to attenuate atherosclerosis by depleting B2 cells is currently limited to anti-CD20 antibodies which deplete all B-cell subtypes. In the present study we evaluated the capacity of a monoclonal antibody to B cell activating factor-receptor (BAFFR to selectively deplete atherogenic B2 cells to prevent both development and progression of atherosclerosis in the ApoE(-/- mouse. METHODS AND RESULTS: To determine whether the BAFFR antibody prevents atherosclerosis development, we treated ApoE(-/- mice with the antibody while feeding them a high fat diet (HFD for 8 weeks. Mature CD93(- CD19(+ B2 cells were reduced by treatment, spleen B-cell zones disrupted and spleen CD20 mRNA expression decreased while B1a cells and non-B cells were spared. Atherosclerosis was ameliorated in the hyperlipidemic mice and CD19(+ B cells, CD4(+ and CD8(+ T cells were reduced in atherosclerotic lesions. Expressions of proinflammatory cytokines, IL1β, TNFα, and IFNγ in the lesions were also reduced, while MCP1, MIF and VCAM-1 expressions were unaffected. Plasma immunoglobulins were reduced, but MDA-oxLDL specific antibodies were unaffected. To determine whether anti-BAFFR antibody ameliorates progression of atherosclerosis, we first fed ApoE(-/- mice a HFD for 6 weeks, and then instigated anti-BAFFR antibody treatment for a further 6 week-HFD. CD93(- CD19(+ B2 cells were selectively decreased and atherosclerotic lesions were reduced by this treatment. CONCLUSION: Anti-BAFFR monoclonal antibody selectively depletes mature B2 cells while sparing B1a cells, disrupts spleen B-cell zones and ameliorates atherosclerosis development and progression in hyperlipidemic ApoE(-/- mice. Our findings have potential for clinical translation to manage atherosclerosis-based cardiovascular diseases.

  5. In vitro and In vivo Antioxidant, Anti-hyperlipidemic Properties and Chemical Characterization of Centella asiatica (L.) Extract

    Science.gov (United States)

    Kumari, Sima; Deori, Meetali; Elancheran, R.; Kotoky, Jibon; Devi, Rajlakshmi

    2016-01-01

    The study aimed to identify the phenolic compounds present in Centella asiatica (L.) (C. asiatica) extract and evaluate the respective antioxidant potential as well as its cholesterol-lowering effects in the experimental animal model. Herein, the antioxidant potential of extracts was assessed by its free radical scavenging activity such as 2, 2-diphenyl -1- picrylhydrazyl as well as reducing capability. The anti-hyperlipidemic effects of C. asiatica extract (CAE) were evaluated in high cholesterol-fed (HCF) rats for 4 weeks, where different concentrations of extracts (0.25, 0.5, and 1 g/kg/day) were orally administrated daily. Lipid and antioxidant profiles, including total cholesterol (TC), triglyceride (TG), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C) and superoxide dismutase (SOD), together with the indices of hepatic functions were also examined. C. asiatica revealed excellent free radical scavenging activity as revealed by 2-2- diphenyl-1-picryl-hydrazyl (DPPH) assay, with the IC50 values (9.62 ± 0.88 μg/mL). Furthermore, C. asiatica extracts and fenofibrate remarkably lowered the level of TC, TG, LDL-C, and showed elevated levels of HDL-C, SOD. The histopathological observations further demonstrated clear differentiation and structural changes in liver of HCF and CAE treated group. Furthermore, gulonic acid, ferulic acid, kaempferol, chlorogenic acid, and asiatic acid were identified to be the major components which might be responsible for the antioxidant activity of the C. asiatica extract as evidenced from an ultra-high performance liquid chromatography–mass spectrometer. Taken together, these results signifies the excellent antioxidant and anti-hyperlipidemic properties of C. asiatica leaf extracts, which might be useful for the treatment of oxidative-stress related diseases such as hyperlipidemia. PMID:27840607

  6. Heritability of retinal vascular fractals: a twin study

    DEFF Research Database (Denmark)

    Vergmann, Anna Stage; Broe, Rebecca; Kessel, Line

    Purpose: To determine the genetic contribution to the pattern of retinal vascular branching expressed by its fractal dimension. Methods: This was a cross-sectional study of 50-degree, disc-centred fundus photographs from 59 monozygotic and 55 dizygotic, same-sex twin pairs aged 20-46 years....... The retinal vascular fractal dimension was measured using the box-counting method and compared within monozygotic and dizygotic twin pairs using Pearson correlation coefficents. Falconer´s formula and quantitative genetic models were used to determine the genetic component of variation. Results: The retinal...... for quantitative analysis of heritability. The intrapair correlation was markedly higher (0.505, p=0.0002) in monozygotic twins than in dizygotic twins (0.108, p=0.46), corresponding to a heritability h2 for the fractal dimension of 0.79. In quantitative genetic models, 54% of the variation was explained...

  7. Heritability and genetics of lipid metabolism

    DEFF Research Database (Denmark)

    Fenger, Mogens

    2007-01-01

    In this article, the concept of heritability and genetic effect will be reviewed and our current knowledge of the genetics of lipid metabolism summarized. The concepts of polygenic conditions and epistasis are discussed at length, and an effort is made to put the biological processes in context i...... in the search for genetic factors influencing the metabolic pathways. Particular physiological heterogeneity is addressed and procedures to handle this complex issue are suggested.......In this article, the concept of heritability and genetic effect will be reviewed and our current knowledge of the genetics of lipid metabolism summarized. The concepts of polygenic conditions and epistasis are discussed at length, and an effort is made to put the biological processes in context...

  8. Heritability and genetics of lipid metabolism

    DEFF Research Database (Denmark)

    Fenger, Mogens

    2007-01-01

    In this article, the concept of heritability and genetic effect will be reviewed and our current knowledge of the genetics of lipid metabolism summarized. The concepts of polygenic conditions and epistasis are discussed at length, and an effort is made to put the biological processes in context...... in the search for genetic factors influencing the metabolic pathways. Particular physiological heterogeneity is addressed and procedures to handle this complex issue are suggested....

  9. Will Big Data Close the Missing Heritability Gap?

    Science.gov (United States)

    Kim, Hwasoon; Grueneberg, Alexander; Vazquez, Ana I; Hsu, Stephen; de Los Campos, Gustavo

    2017-09-11

    Despite the important discoveries reported by Genome-Wide Association studies, for most traits and diseases the prediction R-squared (R-sq.) achieved with genetic scores remains considerably lower than the trait heritability. Modern biobanks will soon deliver unprecedentedly large biomedical data sets: Will the advent of Big Data close the gap between the trait heritability and the proportion of variance that can be explained by a genomic predictor? We addressed this question using Bayesian methods and a data analysis approach that produces a surface response relating prediction R-sq. with sample size and model complexity (e.g., number of SNPs). We applied the methodology to data from the interim release of the UK Biobank. Focusing on human height as a model trait and using 80,000 records for model training, we achieved a prediction R-sq. in testing (n=22,221) of 0.24 (95% CI: 0.23-0.25). Our estimates show that prediction R-sq. increases with sample size reaching an estimated plateau at values that ranged from 0.1 to 0.37 for models using 500 and 50,000 (GWA-selected) SNPs, respectively. Soon much larger data sets will become available. Using the estimated surface response, we forecast that larger sample sizes will lead to further improvements in prediction R-sq. We conclude that Big Data will lead to a substantial reduction of the gap between trait heritability and the proportion of inter-individual differences that can be explained with a genomic predictor. However, even with the power of Big Data, for complex traits, we anticipate that the gap between prediction R-sq. and trait heritability will not be fully closed. Copyright © 2017, Genetics.

  10. Heritable retroviral transgenes are highly expressed in chickens.

    OpenAIRE

    Briskin, M J; Hsu, R Y; Boggs, T; Schultz, J. A.; Rishell, W; Bosselman, R A

    1991-01-01

    This report describes expression of heritable reticuloendotheliosis virus (REV) vector ME111 in 20 independent lines of transgenic chickens. The results are strikingly different from studies of Moloney virus in transgenic mice, where restricted expression of inherited proviruses has led to their use primarily as insertional mutagens rather than general agents for gene transfer. In contrast, the REV ME111 provirus is actively transcribed in a variety of tissues from transgenic chickens, is exp...

  11. Heritability of heart rate recovery and vagal rebound after exercise.

    Science.gov (United States)

    Nederend, Ineke; Schutte, Nienke M; Bartels, Meike; Ten Harkel, Arend D J; de Geus, Eco J C

    2016-12-01

    The prognostic power of heart rate recovery (HRR) after exercise has been well established but the exact origin of individual differences in HRR remains unclear. This study aims to estimate the heritability of HRR and vagal rebound after maximal exercise in adolescents. Furthermore, the role of voluntary regular exercise behavior (EB) in HRR and vagal rebound is tested. 491 healthy adolescent twins and their siblings were recruited for maximal exercise testing, followed by a standardized cooldown with measurement of the electrocardiogram and respiratory frequency. Immediate and long-term HRR (HRR60 and HRR180) and vagal rebound (heart rate variability in the respiratory frequency range) were assessed 1 and 3 min after exercise. Multivariate twin modeling was used to estimate heritability of all measured variables and to compute the genetic contribution to their covariance. Heritability of HRR60, HRR180 and immediate and long-term vagal rebound is 60 % (95 % CI: 48-67), 65 % (95 % CI: 54-73), 23 % (95 % CI: 11-35) and 3 % (95 % CI: 0-11), respectively. We find evidence for two separate genetic factors with one factor influencing overall cardiac vagal control, including resting heart rate and respiratory sinus arrhythmia, and a specific factor for cardiac vagal exercise recovery. EB was only modestly associated with resting heart rate (r = -0.27) and HRR (rHRR60 = 0.10; rHRR180 = 0.19) with very high genetic contribution to these associations (88-91 %). Individual differences in HRR and immediate vagal rebound can to a large extent be explained by genetic factors. These innate cardiac vagal exercise recovery factors partly reflect the effects of heritable differences in EB.

  12. Heritable temperament pathways to early callous-unemotional behaviour.

    Science.gov (United States)

    Waller, Rebecca; Trentacosta, Christopher J; Shaw, Daniel S; Neiderhiser, Jenae M; Ganiban, Jody M; Reiss, David; Leve, Leslie D; Hyde, Luke W

    2016-12-01

    Early callous-unemotional behaviours identify children at risk for antisocial behaviour. Recent work suggests that the high heritability of callous-unemotional behaviours is qualified by interactions with positive parenting. To examine whether heritable temperament dimensions of fearlessness and low affiliative behaviour are associated with early callous-unemotional behaviours and whether parenting moderates these associations. Using an adoption sample (n = 561), we examined pathways from biological mother self-reported fearlessness and affiliative behaviour to child callous-unemotional behaviours via observed child fearlessness and affiliative behaviour, and whether adoptive parent observed positive parenting moderated pathways. Biological mother fearlessness predicted child callous-unemotional behaviours via earlier child fearlessness. Biological mother low affiliative behaviour predicted child callous-unemotional behaviours, although not via child affiliative behaviours. Adoptive mother positive parenting moderated the fearlessness to callous-unemotional behaviour pathway. Heritable fearlessness and low interpersonal affiliation traits contribute to the development of callous-unemotional behaviours. Positive parenting can buffer these risky pathways. © The Royal College of Psychiatrists 2016.

  13. Mutagen sensitivity has high heritability: evidence from a twin study.

    Science.gov (United States)

    Wu, Xifeng; Spitz, Margaret R; Amos, Christopher I; Lin, Jie; Shao, Lina; Gu, Jian; de Andrade, Mariza; Benowitz, Neal L; Shields, Peter G; Swan, Gary E

    2006-06-15

    Despite numerous studies showing that mutagen sensitivity is a cancer predisposition factor, the heritability of mutagen sensitivity has not been clearly established. In this report, we used a classic twin study design to examine the role of genetic and environmental factors on the mutagen sensitivity phenotype. Mutagen sensitivity was measured in peripheral blood lymphocytes from 460 individuals [148 pairs of monozygotic (MZ) twins, 57 pairs of dizygotic (DZ) twins, and 50 siblings]. The intraclass correlation coefficients were all significantly higher in MZ twins than in dizygotes (DZ pairs and MZ-sibling pairs combined) for sensitivity to four different mutagen challenges. Applying biometric genetic modeling, we calculated a genetic heritability of 40.7%, 48.0%, 62.5%, and 58.8% for bleomycin, benzo[a]pyrene diol epoxide, gamma-radiation, and 4-nitroquinoline-1-oxide sensitivity, respectively. This study provides the strongest and most direct evidence that mutagen sensitivity is highly heritable, thereby validating the use of mutagen sensitivity as a cancer susceptibility factor.

  14. Leveraging population admixture to explain missing heritability of complex traits

    Science.gov (United States)

    Zaitlen, Noah; Pasaniuc, Bogdan; Sankararaman, Sriram; Bhatia, Gaurav; Zhang, Jianqi; Gusev, Alexander; Young, Taylor; Tandon, Arti; Pollack, Samuela; Vilhjálmsson, Bjarni J.; Assimes, Themistocles L.; Berndt, Sonja I.; Blot, William J.; Chanock, Stephen; Franceschini, Nora; Goodman, Phyllis G.; He, Jing; Hennis, Anselm JM; Hsing, Ann; Ingles, Sue A.; Isaacs, William; Kittles, Rick A.; Klein, Eric A.; Lange, Leslie A.; Nemesure, Barbara; Patterson, Nick; Reich, David; Rybicki, Benjamin A.; Stanford, Janet L.; Stevens, Victoria L; Strom, Sara S.; Whitsel, Eric A; Witte, John S.; Xu, Jianfeng; Haiman, Christopher; Wilson, James G.; Kooperberg, Charles; Stram, Daniel; Reiner, Alex P.; Tang, Hua; Price, Alkes L.

    2014-01-01

    Despite recent progress on estimating the heritability explained by genotyped SNPs (hg2), a large gap between hg2 and estimates of total narrow-sense heritability (h2) remains. Explanations for this gap include rare variants, or upward bias in family-based estimates of h2 due to shared environment or epistasis. We estimate h2 from unrelated individuals in admixed populations by first estimating the heritability explained by local ancestry (hγ2). We show that hγ2 = 2FSTCθ(1−θ)h2, where FSTC measures frequency differences between populations at causal loci and θ is the genome-wide ancestry proportion. Our approach is not susceptible to biases caused by epistasis or shared environment. We examined 21,497 African Americans from three cohorts, analyzing 13 phenotypes. For height and BMI, we obtained h2 estimates of 0.55 ± 0.09 and 0.23 ± 0.06, respectively, which are larger than estimates of hg2 in these and other data, but smaller than family-based estimates of h2. PMID:25383972

  15. Dominant-lethal mutations and heritable translocations in mice

    Energy Technology Data Exchange (ETDEWEB)

    Generoso, W.M.

    1983-01-01

    Chromosome aberrations are a major component of radiation or chemically induced genetic damage in mammalian germ cells. The types of aberration produced are dependent upon the mutagen used and the germ-cell stage treated. For example, in male meiotic and postmeiotic germ cells certain alkylating chemicals induce both dominant-lethal mutations and heritable translocations while others induce primarily dominant-lethal mutations. Production of these two endpoints appears to be determined by the stability of alkylation products with the chromosomes. If the reaction products are intact in the male chromosomes at the time of sperm entry, they may be repaired in fertilized eggs. If repair is not effected and the alkylation products persist to the time of pronuclear chromosome replication, they lead to chromatid-type aberrations and eventually to dominant-lethality. The production of heritable translocations, on the other hand, requires a transformation of unstable alkylation products into suitable intermediate lesions. The process by which these lesions are converted into chromosome exchange within the male genome takes place after sperm enters the egg but prior to the time of pronuclear chromosome replication (i.e., chromosome-type). Thus, dominant-lethal mutations result from both chromatid- and chromosome-type aberrations while heritable translocations result primarily from the latter type. DNA target sites associated with the production of these two endpoints are discussed.

  16. Heritable variation in garter snake color patterns in postglacial populations.

    Directory of Open Access Journals (Sweden)

    Michael F Westphal

    Full Text Available Global climate change is expected to trigger northward shifts in the ranges of natural populations of plants and animals, with subsequent effects on intraspecific genetic diversity. Investigating how genetic diversity is patterned among populations that arose following the last Ice Age is a promising method for understanding the potential future effects of climate change. Theoretical and empirical work has suggested that overall genetic diversity can decrease in colonial populations following rapid expansion into postglacial landscapes, with potential negative effects on the ability of populations to adapt to new environmental regimes. The crucial measure of this genetic variation and a population's overall adaptability is the heritable variation in phenotypic traits, as it is this variation that mediates the rate and direction of a population's multigenerational response to selection. Using two large full-sib quantitative genetic studies (N(Manitoba = 144; N(South Dakota = 653 and a smaller phenotypic analysis from Kansas (N(Kansas = 44, we compared mean levels of pigmentation, genetic variation and heritability in three pigmentation traits among populations of the common garter snake, Thamnophis sirtalis, along a north-south gradient, including a postglacial northern population and a putative southern refuge population. Counter to our expectations, we found that genetic variance and heritability for the three pigmentation traits were the same or higher in the postglacial population than in the southern population.

  17. Analysis of lipid profile and atherogenic index in hyperlipidemic rat (Rattus norvegicus Berkenhout, 1769) that given the methanolic extract of Parijoto (Medinilla speciosa)

    Science.gov (United States)

    Sa'adah, Noor Nailis; Purwani, Kristanti Indah; Nurhayati, Awik Puji Dyah; Ashuri, Nova Maulidina

    2017-06-01

    Diet of high lipids cause hyperlipidemia, which marked by an increase of total cholesterols, triglycerides, LDL-C, and decreasing of HDL-C. Hyperlipidemia lead the occurrence of atherosclerosis, one of factors that trigger cardiovascular disease, as hypertention; coronary heart and stroke. Parijoto (M. speciosa) is endemic plants in Asia with a distribution center in Malaysia, Indonesia and Philippines. Parijoto contain phytochemical components such as flavonoids, saponins and kardenolin. Flavonoid potensial as an antioxidants and can improve the hyperlipidemia condition. This study was aimed to determine lipid profiles and atherogenic index of hyperlipidemic Wistar rats (R. norvegicus Berkenhout, 1769) which given the methanolic extract of Parijoto (M. speciosa). The research was done with pre and post test randomized control group design. Rats were given a mixture of duck yolk and reused cooking oil (1:1) orally as much as 1% of body weight (BW) for 30 days. After hyperlipidemia achieved, rats were divided into 5 group: normal rats, hyperlipidemic rats, hyperlipidemic rats were given the methanolic extract of Parijoto (M. speciosa) 500 mg/kg, 1000 mg/kg, and 1500 mg/kg BW. Blood samples were collected when rats in hyperlipidemia conditions and after treatment with the methanolic extract of Parijoto (M. speciosa) for 30 days. The data of total cholesterol, HDL-Cholesterol, LDL-Cholesterol level, and atherogenic index were analyzed using ANOVA followed by Tukey test at 5% significance level. The result showed that giving of methanolic extract of Parijoto (M. speciosa) in hyperlipidemic rats reduced the total cholesterol, LDL-Cholesterol levels, and increased of HDL-cholesterol levels significantly (p<0.01), so atherogenic index reduced significantly too (p<0.01). Total cholesterol and LDL-Cholesterol levels were positively correlated with the atherogenic index, whereas HDL-cholesterol levels were negatively correlated with the atherogenic index.

  18. Comparison of the Effects of Edible Oils: Rice Bran, Grape Seed, and Canola on Serum Lipid Profile and Paraoxonase Activity in Hyperlipidemic Rats

    Directory of Open Access Journals (Sweden)

    Maryam Ranjbar-Zahedani

    2015-03-01

    Full Text Available Background: Dyslipidemia is considered as one of the crucial contributors to cardio- cerebro-vascular diseases. Objectives: The present study aimed to compare the effects of Rice Barn Oil (RBO, Grape Seed Oil (GSO, and Canola Oil (CO on dyslipidemia and oxidative stress in experimentally induced hyperlipidemic rats. Materials and Methods: In the present experimental study, forty hyperlipidemic male Wistar rats were randomly assigned to 4 groups to receive RBO, GSO, or CO or Soy Bean Oil (SBO, as controls, for 4 weeks following a 3-week period of Atherogenic Diet (AD intake. Blood samples were collected at the beginning of the study, after inducing dyslipidemia, and at the end of the experimental period. Then, the data were entered into the SPSS statistical software (v. 13.0 and analyzed using paired t-test, paired sample Wilcoxon signed rank test, and Kruskal-Wallis test. Results: AD elevated lipid and/or lipoprotein profile and decreased the paraoxonase activity in the hyperlipidemic rats. The results of paired t-test revealed that RBO led to a significant improvement in serum lipoprotein profile and paraoxonase activity. Besides, a significant difference was found in the GSO group regarding all the measured parameters, except for paraoxonase activity. Moreover, CO diet showed a significant hypolipidemic effect on serum Triglyceride (TG and Total Cholesterol (TC and led to a slight improvement in Low Density Lipoprotein-Cholesterol (LDL-C and High Density Lipoprotein-Cholesterol (HDL-C. Conclusions: The results of the present study suggested that vegetable oils, including RBO, GSO, and CO, might improve dyslipidemia and oxidative stress in hyperlipidemic rats. Indeed, substituting saturated fatty acids with unsaturated fatty acids in rats’ diet had beneficial effects on serum lipid profile and oxidative stress. Comparison of the 3 edible oils showed that GSO had a more profound effect on decreasing hyperlipidemia.

  19. The Rationality of the Hypolipidemic Effect of Alismatis Rhizoma Decoction, a Classical Chinese Medicine Formula in High-Fat Diet-Induced Hyperlipidemic Mice

    OpenAIRE

    Song, Chengwu; Huang, Xiaofei; Lu, Kungang; Peng, Min; Yu, Shanggong; Fang, Nianbai

    2014-01-01

    Alismatis Rhizoma Decoction (ARD) is a classical Traditional Chinese Medicine (TCM) formula for treatment of vertigo with its long history of successful clinical effect. Since vertigo is a symptom of hyperlipidemia, this study aimed at evaluating the hypolipidemic effect of ARD in hyperlipidemic mice induced by high fat diet (HFD) and investigated the rationality of formula combination of Alismatis Rhizoma (AR) and Atractylodis Macrocephalae Rhizoma (AMR). Compared with control group, hyperli...

  20. Hypocholesterolemia of Rhizoma Coptidis alkaloids is related to the bile acid by up-regulated CYP7A1 in hyperlipidemic rats.

    Science.gov (United States)

    Cao, Yang; Bei, Weijian; Hu, Yinming; Cao, Le; Huang, Lihua; Wang, Laiyou; Luo, Duosheng; Chen, Yuanyuan; Yao, Xi; He, Wei; Liu, Xiaobo; Guo, Jiao

    2012-06-15

    This study is to investigate the cholesterol-lowering effect and the new mode of action of coptis alkaloids on high lipid diet-induced hyperlipidemic rats. Coptis alkaloids extract (CAE) was prepared by alcohol extraction from Rhizoma Coptidis that have been quality-controlled according to the protocol. The cholesterol-lowering effect of CAE was evaluated on SD rats fed with high-lipid diet. Serum level of lipid, Bile acid and cholesterol in the liver and feces of the rats were measured using colorimetric assay kit. RT-PCR and Western blot were used to analyze the mRNA and protein expression of cholesterol metabolism-related genes including cholesterol 7α-hydroxylase (CYP7A1), peroxisome proliferator-activated receptor-alpha (PPARα) and farnesoid X receptor (FXR) in the livers of the rats. A HPLC analysis was used to assess the activity of CYP7A1. The results showed that CAE reduced the levels of serum total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C). CYP7A1 gene expression and its activity was up-regulated dose-dependently accompanying with the increased level of bile acid and the reduced cholesterol level in the livers of the CAE treated hyperlipidemic rats. Meanwhile, the mRNA expression of PPARα was also up-regulated in dose-dependent way accompanying the down-modulation of the FXR mRNA expression in the livers of the CAE treated hyperlipidemic rats. The results indicate that the cholesterol-lowering effect of coptis alkaloid extract is at least partly attributed to its promoting the cholesterol conversion into bile acids by up-regulating the gene expression of CYP7A1 and thus increasing its activity in the liver of the hyperlipidemic rats, which might related to the positive regulation of PPARα and the negative modulation of FXR.

  1. Aorta measurements are heritable and influenced by bicuspid aortic valve

    Directory of Open Access Journals (Sweden)

    Lisa J Martin

    2011-09-01

    Full Text Available Abstract: Word Count 266, 1609 charactersObjectives: To determine whether the contributions of genetics and bicuspid aortic valve (BAV independently influence aortic (Ao dimensions.Background: Ao dilation is a risk factor for aneurysm, dissection, and sudden cardiac death. Frequent association of BAV with Ao dilation implicates a common underlying defect possibly due to genetic factors. Methods: Families enriched for BAV underwent standardized transthoracic echocardiography. In addition to BAV status, echocardiographic measures of Ao (annulus to descending Ao, pulmonary artery and mitral valve annulus diameters were obtained. Using variance components analysis, heritability was estimated with and without BAV status. Additionally, bivariate genetic analyses between Ao dimensions and BAV were performed.Results: Our cohort was obtained from 209 families enriched for BAV. After adjusting for age, body surface area and sex, individuals with BAV had a statistically significant increase in all echocardiographic measurements (p < 0.006 except descending Ao and mitral valve annulus. Individuals with BAV were at greater odds of having Ao dilation (OR = 4.44, 95% CI 2.93 – 6.72 than family members without BAV. All echocardiographic measurements exhibited moderate to strong heritability (0.25 to 0.53, and these estimates were not influenced by inclusion of BAV as a covariate. Bivariate genetic analyses supported that the genetic correlation between BAV and echo measures were not significantly different from zero.Conclusions: We show for the first time that echocardiographic measurements of Ao, pulmonary artery and mitral valve annulus diameters are quantitative traits that exhibit significant heritability. In addition, our results suggest the presence of BAV independently influences the proximal Ao and pulmonary artery measures but not those in the descending Ao or mitral valve annulus.

  2. Lessons on the pathogenesis of aneurysm from heritable conditions

    Science.gov (United States)

    Lindsay, Mark E.; Dietz, Harry C.

    2013-01-01

    Aortic aneurysm is common, accounting for 1–2% of all deaths in industrialized countries. Early theories of the causes of human aneurysm mostly focused on inherited or acquired defects in components of the extracellular matrix in the aorta. Although several mutations in the genes encoding extracellular matrix proteins have been recognized, more recent discoveries have shown important perturbations in cytokine signalling cascades and intracellular components of the smooth muscle contractile apparatus. The modelling of single-gene heritable aneurysm disorders in mice has shown unexpected involvement of the transforming growth factor-β cytokine pathway in aortic aneurysm, highlighting the potential for new therapeutic strategies. PMID:21593863

  3. Heritability of several traits in a early population of maize

    OpenAIRE

    1987-01-01

    [EN] The heritability in the narrow sense of days to pollen shedding, days to silking plant height, ear height, lodging, kernel moisture, number of ears per plant, number of ear rows, ear length, 1000-kernel weight and yield were estimated in an early population of maize (Zea mays L) using 40 families of half sibs grown in a blocks-in-replications desing for two years. The estimates ranged from 0.13 for kernel moisture to 1.00 for number of ear rows. The heritabiliy for yield was 0.38. [ES...

  4. Heritability of psoriasis in a large twin sample

    DEFF Research Database (Denmark)

    Lønnberg, Ann Sophie; Skov, L; Skytthe, A;

    2013-01-01

    AIM: To study the concordance of psoriasis in a population-based twin sample. METHODS: Data on psoriasis in 10,725 twin pairs, 20-71 years of age, from the Danish Twin Registry was collected via a questionnaire survey. The concordance and heritability of psoriasis were estimated. RESULTS: In total......, 4.1% of the men and 4.2% of the women had a lifetime history of psoriasis. The probandwise concordance for psoriasis was larger in monozygotic than in dizygotic twins, 0.33 vs. 0.17. Genetic factors explained 68% (60-75%) of the variation in the susceptibility to psoriasis, whereas the rest...

  5. Prospects for DNA methods to measure human heritable mutation rates

    Energy Technology Data Exchange (ETDEWEB)

    Mendelsohn, M.L.

    1985-06-14

    A workshop cosponsored by ICPEMC and the US Department of Energy was held in Alta, Utah, December 9-13, 1984 to examine the extent to which DNA-oriented methods might provide new approaches to the important but intractable problem of measuring mutation rates in control and exposed human populations. The workshop identified and analyzed six DNA methods for detection of human heritable mutation, including several created at the meeting, and concluded that none of the methods combine sufficient feasibility and efficiency to be recommended for general application. 8 refs.

  6. [Heritability of neurodynamics and psychodynamics in human populations].

    Science.gov (United States)

    Bulaeva, K B; Trubnikov, V I; Isaĭchev, S A; Pavlova, T A; Dubinin, N P

    1986-06-01

    A component analysis of human neurodynamic and psychodynamic characters in the norm was carried out in 8 human populations characterized by different degrees of isolation and ethnic origin. An increase in phenotypic variability and a decrease in heritability with increasing complexity of organization of the characters under study were demonstrated for all these populations. The additive effect plays the major role in genetic determination of neurodynamic and psychodynamic characters studied. For a number of neurodynamic parameters the effect of intralocus dominance indicative of the oligogenic determination system was observed. Data in favour of real contribution of the factors linked to X-chromosome were obtained for simple sensomotor reactions.

  7. Are range-size distributions consistent with species-level heritability?

    DEFF Research Database (Denmark)

    Borregaard, Michael Krabbe; Gotelli, Nicholas; Rahbek, Carsten

    2012-01-01

    been that it is not compatible with the observed shape of present-day species range-size distributions (SRDs), a claim that has never been tested. To assess this claim, we used forward simulation of range-size evolution in clades with varying degrees of range-size heritability, and compared the output...... of three different models to the range-size distribution of the South American avifauna. Although there were differences among the models, a moderate-to-high degree of range-size heritability consistently leads to SRDs that were similar to empirical data. These results suggest that range-size heritability......The concept of species-level heritability is widely contested. Because it is most likely to apply to emergent, species-level traits, one of the central discussions has focused on the potential heritability of geographic range size. However, a central argument against range-size heritability has...

  8. Identification of a heritable polymorphism in bovine PRNP associated with genetic transmissible spongiform encephalopathy: evidence of heritable BSE.

    Directory of Open Access Journals (Sweden)

    Eric M Nicholson

    Full Text Available BACKGROUND: Bovine spongiform encephalopathy (BSE is a transmissible spongiform encephalopathy (TSE of cattle. Classical BSE is associated with ingestion of BSE-contaminated feedstuffs. H- and L-type BSE, collectively known as atypical BSE, differ from classical BSE by displaying a different disease phenotype and they have not been linked to the consumption of contaminated feed. Interestingly, the 2006 US H-type atypical BSE animal had a polymorphism at codon 211 of the bovine prion gene resulting in a glutamic acid to lysine substitution (E211K. This substitution is analogous a human polymorphism associated with the most prevalent form of heritable TSE in humans, and it is considered to have caused BSE in the 2006 US atypical BSE animal. In order to determine if this amino acid change is a heritable trait in cattle, we sequenced the prion alleles of the only known offspring of this animal, a 2-year-old heifer. PRINCIPAL FINDINGS: Sequence analysis revealed that both the 2006 US atypical BSE animal and its 2-year-old heifer were heterozygous at bovine prion gene nucleotides 631 through 633 for GAA (glutamic acid and AAA (lysine. Both animals carry the E211K polymorphism, indicating that the allele is heritable and may persist within the cattle population. CONCLUSIONS: This is the first evidence that the E211K polymorphism is a germline polymorphism, not a somatic mutation, suggesting BSE may be transmitted genetically in cattle. In the event that E211K proves to result in a genetic form of BSE, this would be the first indication that all 3 etiologic forms of TSEs (spontaneous, hereditary, and infectious are present in a non-human species. Atypical BSE arising as both genetic and spontaneous disease, in the context of reports that at least some forms of atypical BSE can convert to classical BSE in mice, suggests a cattle origin for classical BSE.

  9. Repeatability and heritability of response to superovulation in Holstein cows.

    Science.gov (United States)

    Tonhati, H; Lôbo, R B; Oliveira, H N

    1999-04-15

    The objective of this study was to estimate the relative effects of genetic and phenotypic factors on the efficacy and efficiency of superovulation for Holstein-Friesian cows reared in Brazil. A database, established by the Associacao Brasileira de Criadores de Bovinos da Raca Holandesa, consisting of a total of 5387 superovulations of 2941 cows distributed over 473 herds and sired by 690 bulls was used for the analysis. The records were analyzed by MTDFREML (Multiple Trait Derivative-Free Restricted Maximum Likelihood), using a repeatability animal model. The fixed effects included in the model were contemporaneous group (veterinarian, herd, year and season of the superovulation); number of semen doses; cow age; and superovulation order. The estimated repeatability of the number of the transferable embryos was low (0.13), and the estimated heritability was 0.03. These results indicate that environmental factors play a critical role in the response of a cow to a superovulation treatment. There is little evidence that future responses to superovulation by individual females can be predicted by previous treatment(s) or that superovulation response is an heritable trait.

  10. Dark matter: are mice the solution to missing heritability?

    Directory of Open Access Journals (Sweden)

    Clarissa Carlin Parker

    2011-06-01

    Full Text Available Genome-wide association studies (GWAS in humans have identified hundreds of single nucleotide polymorphisms associated with complex traits, yet for most traits studied, the sum total of all these identified variants fail to explain a significant portion of the heritable variation. Reasons for this missing heritability are thought to include the existence of rare causative variants not captured by current genotyping arrays, structural variants that go undetected by existing technology, insufficient power to identify multi-gene interactions, small sample sizes, and the influence of environmental and epigenetic effects. As genotyping technologies have evolved it has become inexpensive and relatively straightforward to perform GWAS in mice. Mice offer a powerful tool for elucidating the genetic architecture of behavioral and physiological traits, and are complementary to human studies. Unlike F2 crosses of inbred strains, advanced intercross lines, heterogeneous stocks, outbred, and wild-caught mice have more rapid breakdown of linkage disequilibrium which allow for increasingly high resolution mapping. Because some of these populations are created using a small number of founder chromosomes they are not expected to harbor rare alleles. We discuss the differences between these mouse populations and examine their potential to overcome some of the pitfalls that have plagued human GWAS studies.

  11. Heritable site-specific mutagenesis using TALENs in maize.

    Science.gov (United States)

    Char, Si Nian; Unger-Wallace, Erica; Frame, Bronwyn; Briggs, Sarah A; Main, Marcy; Spalding, Martin H; Vollbrecht, Erik; Wang, Kan; Yang, Bing

    2015-09-01

    Transcription activator-like effector nuclease (TALEN) technology has been utilized widely for targeted gene mutagenesis, especially for gene inactivation, in many organisms, including agriculturally important plants such as rice, wheat, tomato and barley. This report describes application of this technology to generate heritable genome modifications in maize. TALENs were employed to generate stable, heritable mutations at the maize glossy2 (gl2) locus. Transgenic lines containing mono- or di-allelic mutations were obtained from the maize genotype Hi-II at a frequency of about 10% (nine mutated events in 91 transgenic events). In addition, three of the novel alleles were tested for function in progeny seedlings, where they were able to confer the glossy phenotype. In a majority of the events, the integrated TALEN T-DNA segregated independently from the new loss of function alleles, producing mutated null-segregant progeny in T1 generation. Our results demonstrate that TALENs are an effective tool for genome mutagenesis in maize, empowering the discovery of gene function and the development of trait improvement.

  12. Red yeast rice and coenzyme Q10 as safe alternatives to surmount atorvastatin-induced myopathy in hyperlipidemic rats.

    Science.gov (United States)

    Abdelbaset, Marwan; Safar, Marwa M; Mahmoud, Sawsan S; Negm, Seham A; Agha, Azza M

    2014-06-01

    Statins are the first line treatment for the management of hyperlipidemia. However, the primary adverse effect limiting their use is myopathy. This study examines the efficacy and safety of red yeast rice (RYR), a source of natural statins, as compared with atorvastatin, which is the most widely used synthetic statin. Statin interference with the endogenous synthesis of coenzyme Q10 (CoQ10) prompted the hypothesis that its deficiency may be implicated in the pathogenesis of statin-associated myopathy. Hence, the effects of combination of CoQ10 with either statin have been evaluated. Rats were rendered hyperlipidemic through feeding them a high-fat diet for 90 days, during the last 30 days of the diet they were treated daily with either atorvastatin, RYR, CoQ10, or combined regimens. Lipid profile, liver function tests, and creatine kinase were monitored after 15 and 30 days of drug treatments. Heart contents of CoQ9 and CoQ10 were assessed and histopathological examination of the liver and aortic wall was performed. RYR and CoQ10 had the advantage over atorvastatin in that they lower cholesterol without elevating creatine kinase, a hallmark of myopathy. RYR maintained normal levels of heart ubiquinones, which are essential components for energy production in muscles. In conclusion, RYR and CoQ10 may offer alternatives to overcome atorvastatin-associated myopathy.

  13. Heritability of Biomarkers of Oxidized Lipoproteins: Twin Pair Study.

    Science.gov (United States)

    Rao, Fangwen; Schork, Andrew J; Maihofer, Adam X; Nievergelt, Caroline M; Marcovina, Santica M; Miller, Elizabeth R; Witztum, Joseph L; O'Connor, Daniel T; Tsimikas, Sotirios

    2015-07-01

    To determine whether biomarkers of oxidized lipoproteins are genetically determined. Lipoprotein(a) (Lp[a]) is a heritable risk factor and carrier of oxidized phospholipids (OxPL). We measured oxidized phospholipids on apolipoprotein B-containing lipoproteins (OxPL-apoB), Lp(a), IgG, and IgM autoantibodies to malondialdehyde-modified low-density lipoprotein, copper oxidized low-density lipoprotein, and apoB-immune complexes in 386 monozygotic and dizygotic twins to estimate trait heritability (h(2)) and determine specific genetic effects among traits. A genome-wide linkage study followed by genetic association was performed. The h(2) (scale: 0-1) for Lp(a) was 0.91±0.01 and for OxPL-apoB 0.87±0.02, which were higher than physiological, inflammatory, or lipid traits. h(2) of IgM malondialdehyde-modified low-density lipoprotein, copper oxidized low-density lipoprotein, and apoB-immune complexes were 0.69±0.04, 0.67±0.05, and 0.80±0.03, respectively, and for IgG malondialdehyde-modified low-density lipoprotein, copper oxidized low-density lipoprotein, and apoB-immune complexes 0.62±0.05, 0.52±0.06, and 0.53±0.06, respectively. There was an inverse correlation between the major apo(a) isoform and OxPL-apoB (R=-0.49; Plipoprotein and copper oxidized low-density lipoprotein, and apoB-immune complexes. Sib-pair genetic linkage of the Lp(a) trait revealed that single nucleotide polymorphism rs10455872 was significantly associated with OxPL-apoB after adjusting for Lp(a). OxPL-apoB and other biomarkers of oxidized lipoproteins are highly heritable cardiovascular risk factors that suggest novel genetic origins of atherothrombosis. © 2015 American Heart Association, Inc.

  14. Heritability of eleven metabolic phenotypes in Danish and Chinese twins

    DEFF Research Database (Denmark)

    Li, Shuxia; Duan, Hongmei; Pang, Zengchang

    2013-01-01

    A twin-based comparative study on the genetic influences in metabolic endophenotypes in two populations of substantial ethnic, environmental, and cultural differences was performed. Design and Methods: Data on 11 metabolic phenotypes including anthropometric measures, blood glucose, and lipids...... levels as well as blood pressure were available from 756 pairs of Danish twins (309 monozygotic and 447 dizygotic twin pairs) with a mean age of 38 years (range: 18-67) and from 325 pairs of Chinese twins (183 monozygotic and 142 dizygotic twin pairs) with a mean age of 40.5 years (range: 18-69). Twin...... similar heritability patterns in the two samples with body weight showing only a slight difference. Higher genetic influences were estimated for fasting blood glucose level in Chinese twins, whereas the Danish twins showed more genetic regulation over most lipids phenotypes. Systolic blood pressure...

  15. Estimating heritability for cause specific mortality based on twin studies

    DEFF Research Database (Denmark)

    Scheike, Thomas; Holst, Klaus Kähler; von Bornemann Hjelmborg, Jacob

    2014-01-01

    There has been considerable interest in studying the magnitude and type of inheritance of specific diseases. This is typically derived from family or twin studies, where the basic idea is to compare the correlation for different pairs that share different amount of genes. We here consider data from...... the Danish twin registry and discuss how to define heritability for cancer occurrence. The key point is that this should be done taking censoring as well as competing risks due to e.g.  death into account. We describe the dependence between twins on the probability scale and show that various models can...... be used to achieve sensible estimates of the dependence within monozygotic and dizygotic twin pairs that may vary over time. These dependence measures can subsequently be decomposed into a genetic and environmental component using random effects models. We here present several novel models that in essence...

  16. Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections.

    Science.gov (United States)

    De Backer, Julie; Renard, Marjolijn; Campens, Laurence; Mosquera, Laura Muino; De Paepe, Anne; Coucke, Paul; Callewaert, Bert; Kodolitsch, Yskert von

    2015-01-01

    In this overview we aim to address a number of recent insights and developments regarding clinical aspects, etiology, and treatment of Heritable Thoracic Aortic Disease (H-TAD). We will focus on monogenetic disorders related to aortic aneurysms. H-TADs are rare but they provide a unique basis for the study of underlying pathogenetic pathways in the complex disease process of aneurysm formation. The understanding of pathomechanisms may help us to identify medical treatment targets to improve prognosis. Among the monogenetic aneurysm disorders, Marfan syndrome is considered as a paradigm entity and many insights are derived from the study of clinical, genetic and animal models for Marfan syndrome. We will therefore first provide a detailed overview of the various aspects of Marfan syndrome after which we will give an overview of related H-TAD entities.

  17. Heritability of Blood Pressure in an Iranian Population

    Directory of Open Access Journals (Sweden)

    M Saadat

    2001-07-01

    Full Text Available The fact that life styles and personal interests, aggregate within families suggests that shared environment in addition to shared bioligical factors could play a role in determining the phenotypic similarity of idividuals living in the same household. It is a major concern of cardiovascular epidemiologists to know how much of the familial aggregation of blood pressure is attributable to shared genes and/or shared family environment. Genetic and environmental influences on blood pressure was examined in a sample representative of the adult population of Shiraz, Fars province, south of Iran. The studied population was the 107 pairs of mother and dauther. Analysis of the data suggest that the genetic heritabilities were estimated to be 0.58,0.30, 0.60 for systolic, diastolic, and mean blood pressure, respectively.

  18. Small RNAs and heritable epigenetic variation in plants.

    Science.gov (United States)

    Bond, Donna M; Baulcombe, David C

    2014-02-01

    Recent studies suggest that inheritance of phenotypes in plants is more likely to involve epigenetics than in mammals. There are two reasons for this difference. First, there is a RNA-based system in plants involving small (s)RNAs that influences de novo establishment and maintenance of DNA methylation at many sites in plant genomes. These regions of methylated DNA are epigenetic marks with the potential to affect gene expression that are transmitted between dividing cells of the same generation. Second, unlike mammals, DNA methyltransferases in plants are active during gametogenesis and embryogenesis so that patterns of DNA methylation can persist from parent to progeny and do not need to be reset. We discuss how the effects of stress and genome interactions in hybrid plants are two systems that illustrate how RNA-based mechanisms can influence heritable phenotypes in plants.

  19. Pectus excavatum and heritable disorders of the connective tissue.

    Science.gov (United States)

    Tocchioni, Francesca; Ghionzoli, Marco; Messineo, Antonio; Romagnoli, Paolo

    2013-09-24

    Pectus excavatum, the most frequent congenital chest wall deformity, may be rarely observed as a sole deformity or as a sign of an underlying connective tissue disorder. To date, only few studies have described correlations between this deformity and heritable connective tissue disorders such as Marfan, Ehlers-Danlos, Poland, MASS (Mitral valve prolapse, not progressive Aortic enlargement, Skeletal and Skin alterations) phenotype among others. When concurring with connective tissue disorder, cardiopulmonary and vascular involvement may be associated to the thoracic defect. Ruling out the concomitance of pectus excavatum and connective tissue disorders, therefore, may have a direct implication both on surgical outcome and long term prognosis. In this review we focused on biological bases of connective tissue disorders which may be relevant to the pathogenesis of pectus excavatum, portraying surgical and clinical implication of their concurrence.

  20. Pectus excavatum and heritable disorders of the connective tissue

    Directory of Open Access Journals (Sweden)

    Francesca Tocchioni

    2013-09-01

    Full Text Available Pectus excavatum, the most frequent congenital chest wall deformity, may be rarely observed as a sole deformity or as a sign of an underlying connective tissue disorder. To date, only few studies have described correlations between this deformity and heritable connective tissue disorders such as Marfan, Ehlers-Danlos, Poland, MASS (Mitral valve prolapse, not progressive Aortic enlargement, Skeletal and Skin alterations phenotype among others. When concurring with connective tissue disorder, cardiopulmonary and vascular involvement may be associated to the thoracic defect. Ruling out the concomitance of pectus excavatum and connective tissue disorders, therefore, may have a direct implication both on surgical outcome and long term prognosis. In this review we focused on biological bases of connective tissue disorders which may be relevant to the pathogenesis of pectus excavatum, portraying surgical and clinical implication of their concurrence.

  1. Diagnosis of human heritable diseases--laboratory approaches and outcomes.

    Science.gov (United States)

    Dowton, S B; Slaugh, R A

    1995-05-01

    Detection of mutant human genes is rapidly becoming an integral part of clinical practice. Human disease may arise by genetic deletion, insertion, fusion, point mutation, or amplification of unstable sequences. Such changes in structure may occur in germ cells or somatically. Rapid advances in understanding the complex nuclear and mitochondrial genomes necessitates deployment of a variety of methods to identify aberrant genes. These techniques include polymerase chain reaction, Southern transfer, and allele-specific hybridization studies, as well as methods to unmask mismatches between mutant and normal sequences. Development of protein truncation tests has added a vehicle for assessing larger DNA segments for mutations that cause premature translational termination. Linkage analysis remains an important tool where direct assay of disease-causing mutations is not possible. Considerations of confidentiality, informed consent, and insurability are important whenever genetic testing is used. These issues will assume increasing importance as presymptomatic testing for heritable predispositions emerges for common conditions.

  2. Describing the genetic architecture of epilepsy through heritability analysis.

    Science.gov (United States)

    Speed, Doug; O'Brien, Terence J; Palotie, Aarno; Shkura, Kirill; Marson, Anthony G; Balding, David J; Johnson, Michael R

    2014-10-01

    Epilepsy is a disease with substantial missing heritability; despite its high genetic component, genetic association studies have had limited success detecting common variants which influence susceptibility. In this paper, we reassess the role of common variants on epilepsy using extensions of heritability analysis. Our data set consists of 1258 UK patients with epilepsy, of which 958 have focal epilepsy, and 5129 population control subjects, with genotypes recorded for over 4 million common single nucleotide polymorphisms. Firstly, we show that on the liability scale, common variants collectively explain at least 26% (standard deviation 5%) of phenotypic variation for all epilepsy and 27% (standard deviation 5%) for focal epilepsy. Secondly we provide a new method for estimating the number of causal variants for complex traits; when applied to epilepsy, our most optimistic estimate suggests that at least 400 variants influence disease susceptibility, with potentially many thousands. Thirdly, we use bivariate analysis to assess how similar the genetic architecture of focal epilepsy is to that of non-focal epilepsy; we demonstrate both significant differences (P = 0.004) and significant similarities (P = 0.01) between the two subtypes, indicating that although the clinical definition of focal epilepsy does identify a genetically distinct epilepsy subtype, there is also scope to improve the classification of epilepsy by incorporating genotypic information. Lastly, we investigate the potential value in using genetic data to diagnose epilepsy following a single epileptic seizure; we find that a prediction model explaining 10% of phenotypic variation could have clinical utility for deciding which single-seizure individuals are likely to benefit from immediate anti-epileptic drug therapy.

  3. Human-directed social behaviour in dogs shows significant heritability.

    Science.gov (United States)

    Persson, M E; Roth, L S V; Johnsson, M; Wright, D; Jensen, P

    2015-04-01

    Through domestication and co-evolution with humans, dogs have developed abilities to attract human attention, e.g. in a manner of seeking assistance when faced with a problem solving task. The aims of this study were to investigate within breed variation in human-directed contact seeking in dogs and to estimate its genetic basis. To do this, 498 research beagles, bred and kept under standardized conditions, were tested in an unsolvable problem task. Contact seeking behaviours recorded included both eye contact and physical interactions. Behavioural data was summarized through a principal component analysis, resulting in four components: test interactions, social interactions, eye contact and physical contact. Females scored significantly higher on social interactions and physical contact and age had an effect on eye contact scores. Narrow sense heritabilities (h(2) ) of the two largest components were estimated at 0.32 and 0.23 but were not significant for the last two components. These results show that within the studied dog population, behavioural variation in human-directed social behaviours was sex dependent and that the utilization of eye contact seeking increased with age and experience. Hence, heritability estimates indicate a significant genetic contribution to the variation found in human-directed social interactions, suggesting that social skills in dogs have a genetic basis, but can also be shaped and enhanced through individual experiences. This research gives the opportunity to further investigate the genetics behind dogs' social skills, which could also play a significant part into research on human social disorders such as autism.

  4. High heritability is compatible with the broad distribution of set point viral load in HIV carriers.

    Directory of Open Access Journals (Sweden)

    Sebastian Bonhoeffer

    2015-02-01

    Full Text Available Set point viral load in HIV patients ranges over several orders of magnitude and is a key determinant of disease progression in HIV. A number of recent studies have reported high heritability of set point viral load implying that viral genetic factors contribute substantially to the overall variation in viral load. The high heritability is surprising given the diversity of host factors associated with controlling viral infection. Here we develop an analytical model that describes the temporal changes of the distribution of set point viral load as a function of heritability. This model shows that high heritability is the most parsimonious explanation for the observed variance of set point viral load. Our results thus not only reinforce the credibility of previous estimates of heritability but also shed new light onto mechanisms of viral pathogenesis.

  5. More heritability probably captured by psoriasis genome-wide association study in Han Chinese.

    Science.gov (United States)

    Jiang, Long; Liu, Lu; Cheng, Yuyan; Lin, Yan; Shen, Changbing; Zhu, Caihong; Yang, Sen; Yin, Xianyong; Zhang, Xuejun

    2015-11-15

    Missing heritability is a common problem in genome-wide association studies in complex diseases/traits. To quantify the unbiased heritability estimate, we applied the phenotype correlation-genotype correlation regression in psoriasis genome-wide association data in Han Chinese which comprises 1139 cases and 1132 controls. We estimated that 45.7% heritability of psoriasis in Han Chinese were captured by common variants (s.e.=12.5%), which reinforced that the majority of psoriasis heritability can be covered by common variants in genome-wide association data (68.2%). The results provided evidence that the heritability covered by psoriasis genome-wide genotyping data was probably underestimated in previous restricted maximum likelihood method. Our study highlights the broad role of common variants in the etiology of psoriasis and sheds light on the possibility to identify more common variants of small effect by increasing the sample size in psoriasis genome-wide association studies.

  6. Discrimination of aqueous and vinegary extracts of Shixiao San using metabolomics coupled with multivariate data analysis and evaluation of anti-hyperlipidemic effect

    Directory of Open Access Journals (Sweden)

    Xiaofan Wang

    2014-02-01

    Full Text Available A novel study using LC–MS (Liquid chromatography tandem mass spectrometry coupled with multivariate data analysis and bioactivity evaluation was established for discrimination of aqueous extract and vinegar extract of Shixiao San. Batches of these two kinds of samples were subjected to analysis, and the datasets of sample codes, tR-m/z pairs and ion intensities were processed with principal component analysis (PCA. The result of score plot showed a clear classification of the aqueous and vinegar groups. And the chemical markers having great contributions to the differentiation were screened out on the loading plot. The identities of the chemical markers were performed by comparing the mass fragments and retention times with those of reference compounds and/or the known compounds published in the literatures. Based on the proposed strategy, quercetin-3-O-neohesperidoside, isorhamnetin-3-O-neohespeeridoside, kaempferol-3-O-neohesperidoside, isorhamnetin-3-O-rutinoside and isorhamnetin-3-O-(2G-α-l-rhamnosyl-rutinoside were explored as representative markers in distinguishing the vinegar extract from the aqueous extract. The anti-hyperlipidemic activities of two processed extracts of Shixiao San were examined on serum levels of lipids, lipoprotein and blood antioxidant enzymes in a rat hyperlipidemia model, and the vinegary extract, exerting strong lipid-lowering and antioxidative effects, was superior to the aqueous extract. Therefore, boiling with vinegary was predicted as the greatest processing procedure for anti-hyperlipidemic effect of Shixiao San. Furthermore, combining the changes in the metabolic profiling and bioactivity evaluation, the five representative markers may be related to the observed anti-hyperlipidemic effect.

  7. Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits.

    Science.gov (United States)

    Zaitlen, Noah; Kraft, Peter; Patterson, Nick; Pasaniuc, Bogdan; Bhatia, Gaurav; Pollack, Samuela; Price, Alkes L

    2013-05-01

    Important knowledge about the determinants of complex human phenotypes can be obtained from the estimation of heritability, the fraction of phenotypic variation in a population that is determined by genetic factors. Here, we make use of extensive phenotype data in Iceland, long-range phased genotypes, and a population-wide genealogical database to examine the heritability of 11 quantitative and 12 dichotomous phenotypes in a sample of 38,167 individuals. Most previous estimates of heritability are derived from family-based approaches such as twin studies, which may be biased upwards by epistatic interactions or shared environment. Our estimates of heritability, based on both closely and distantly related pairs of individuals, are significantly lower than those from previous studies. We examine phenotypic correlations across a range of relationships, from siblings to first cousins, and find that the excess phenotypic correlation in these related individuals is predominantly due to shared environment as opposed to dominance or epistasis. We also develop a new method to jointly estimate narrow-sense heritability and the heritability explained by genotyped SNPs. Unlike existing methods, this approach permits the use of information from both closely and distantly related pairs of individuals, thereby reducing the variance of estimates of heritability explained by genotyped SNPs while preventing upward bias. Our results show that common SNPs explain a larger proportion of the heritability than previously thought, with SNPs present on Illumina 300K genotyping arrays explaining more than half of the heritability for the 23 phenotypes examined in this study. Much of the remaining heritability is likely to be due to rare alleles that are not captured by standard genotyping arrays.

  8. Using extended genealogy to estimate components of heritability for 23 quantitative and dichotomous traits.

    Directory of Open Access Journals (Sweden)

    Noah Zaitlen

    2013-05-01

    Full Text Available Important knowledge about the determinants of complex human phenotypes can be obtained from the estimation of heritability, the fraction of phenotypic variation in a population that is determined by genetic factors. Here, we make use of extensive phenotype data in Iceland, long-range phased genotypes, and a population-wide genealogical database to examine the heritability of 11 quantitative and 12 dichotomous phenotypes in a sample of 38,167 individuals. Most previous estimates of heritability are derived from family-based approaches such as twin studies, which may be biased upwards by epistatic interactions or shared environment. Our estimates of heritability, based on both closely and distantly related pairs of individuals, are significantly lower than those from previous studies. We examine phenotypic correlations across a range of relationships, from siblings to first cousins, and find that the excess phenotypic correlation in these related individuals is predominantly due to shared environment as opposed to dominance or epistasis. We also develop a new method to jointly estimate narrow-sense heritability and the heritability explained by genotyped SNPs. Unlike existing methods, this approach permits the use of information from both closely and distantly related pairs of individuals, thereby reducing the variance of estimates of heritability explained by genotyped SNPs while preventing upward bias. Our results show that common SNPs explain a larger proportion of the heritability than previously thought, with SNPs present on Illumina 300K genotyping arrays explaining more than half of the heritability for the 23 phenotypes examined in this study. Much of the remaining heritability is likely to be due to rare alleles that are not captured by standard genotyping arrays.

  9. Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.

    Directory of Open Access Journals (Sweden)

    Lea K Davis

    2013-10-01

    Full Text Available The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD and Tourette Syndrome (TS, using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12 for TS, and 0.37 (se = 0.07, p = 1.5e-07 for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum for which we had available expression quantitative trait loci (eQTLs. Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002. These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.

  10. Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture

    Science.gov (United States)

    Davis, Lea K.; Yu, Dongmei; Keenan, Clare L.; Gamazon, Eric R.; Konkashbaev, Anuar I.; Derks, Eske M.; Neale, Benjamin M.; Yang, Jian; Lee, S. Hong; Evans, Patrick; Barr, Cathy L.; Bellodi, Laura; Benarroch, Fortu; Berrio, Gabriel Bedoya; Bienvenu, Oscar J.; Bloch, Michael H.; Blom, Rianne M.; Bruun, Ruth D.; Budman, Cathy L.; Camarena, Beatriz; Campbell, Desmond; Cappi, Carolina; Cardona Silgado, Julio C.; Cath, Danielle C.; Cavallini, Maria C.; Chavira, Denise A.; Chouinard, Sylvain; Conti, David V.; Cook, Edwin H.; Coric, Vladimir; Cullen, Bernadette A.; Deforce, Dieter; Delorme, Richard; Dion, Yves; Edlund, Christopher K.; Egberts, Karin; Falkai, Peter; Fernandez, Thomas V.; Gallagher, Patience J.; Garrido, Helena; Geller, Daniel; Girard, Simon L.; Grabe, Hans J.; Grados, Marco A.; Greenberg, Benjamin D.; Gross-Tsur, Varda; Haddad, Stephen; Heiman, Gary A.; Hemmings, Sian M. J.; Hounie, Ana G.; Illmann, Cornelia; Jankovic, Joseph; Jenike, Michael A.; Kennedy, James L.; King, Robert A.; Kremeyer, Barbara; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F.; Lennertz, Leonhard; Liu, Chunyu; Lochner, Christine; Lowe, Thomas L.; Macciardi, Fabio; McCracken, James T.; McGrath, Lauren M.; Mesa Restrepo, Sandra C.; Moessner, Rainald; Morgan, Jubel; Muller, Heike; Murphy, Dennis L.; Naarden, Allan L.; Ochoa, William Cornejo; Ophoff, Roel A.; Osiecki, Lisa; Pakstis, Andrew J.; Pato, Michele T.; Pato, Carlos N.; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Rauch, Scott L.; Renner, Tobias J.; Reus, Victor I.; Richter, Margaret A.; Riddle, Mark A.; Robertson, Mary M.; Romero, Roxana; Rosàrio, Maria C.; Rosenberg, David; Rouleau, Guy A.; Ruhrmann, Stephan; Ruiz-Linares, Andres; Sampaio, Aline S.; Samuels, Jack; Sandor, Paul; Sheppard, Brooke; Singer, Harvey S.; Smit, Jan H.; Stein, Dan J.; Strengman, E.; Tischfield, Jay A.; Valencia Duarte, Ana V.; Vallada, Homero; Van Nieuwerburgh, Filip; Veenstra-VanderWeele, Jeremy; Walitza, Susanne; Wang, Ying; Wendland, Jens R.; Westenberg, Herman G. M.; Shugart, Yin Yao; Miguel, Euripedes C.; McMahon, William; Wagner, Michael; Nicolini, Humberto; Posthuma, Danielle; Hanna, Gregory L.; Heutink, Peter; Denys, Damiaan; Arnold, Paul D.; Oostra, Ben A.; Nestadt, Gerald; Freimer, Nelson B.; Pauls, David L.; Wray, Naomi R.

    2013-01-01

    The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures. PMID:24204291

  11. Effect of an Ilex asprella root decoction on the related genes of lipid metabolism from chronic stress and hyperlipidemic fatty liver in rats

    Institute of Scientific and Technical Information of China (English)

    HU Xiang-yang; SHU Xiao-chun; GUO Ying; MA Yi

    2012-01-01

    Background The gradually increasing changes in a human hyperlipidemic diet along with chronic stress might play an important role in the increased numbers of fatty liver.This study investigated the effects of llex asprella root decoction on related genes of lipid metabolism in chronic stress in hyperlipidemic fatty liver in rats.Methods Forty-eight male Wistar rats were randomly divided into four groups:normal control group,model control group,simvastatin group,and Ilex asprella root group.To establish chronic stress and hyperlipidemic fatty liver models in rats,the levels of serum lipids,glucose,liver index,insulin (INS),insulin resistant (IR) index,adiponectin,superoxide dismutase (SOD),glutathione peroxidase (GSH-pX),glutathione (GSH),liver X receptor (LXR),and sterol responsive element binding protein (SREBP)-1c in rats were measured.Results When compared to the normal control group,the levels of serum lipids,glucose,liver index,INS,IR index,and GSH in the model control group significantly increased (P<0.01).The protein levels of LXRα and SREBP-1c increased (P <0.05),and the serum adiponectin and the SOD and GSH-pX decreased significantly (P <0.01).When compared to the model control group,the levels of serum lipids,glucose,liver index,INS,IR index,SOD,and GSH-pX in the simvastatin group and Ilex asprella root group increased in varying degrees (P <0.01 or 0.05); the serum adiponectin and GSH decreased (P <0.05),while the protein levels of LXRα and SREBP-1c decreased in varying degrees (P <0.01 or 0.05).When compared to the simvastatin group,the IR index and protein levels of LXRα in the Ilex asprella root group decreased (P <0.05),and the serum adiponectin and SOD increased (P <0.05).Conclusion The Ilex asprella root decoction has some protective effects on regulating the related genes of lipid metabolism caused by chronic stress and hyperlipidemic fatty liver in rats.Chin Med J 2012; 125( 19):3539-3542

  12. [Pharmaceutical food science: search for anti-obese constituents from medicinal foods-anti-hyperlipidemic saponin constituents from the flowers of Bellis perennis].

    Science.gov (United States)

    Morikawa, Toshio; Muraoka, Osamu; Yoshikawa, Masayuki

    2010-05-01

    Among a variety of food materials, some are being used as resources of traditional, alternative, and/or complementary medicines all over the world. These medicinal foods are known to have not only nutritive and taste values but also medicinal effects, and they are prescribed in various traditional preparations. Regarding this point, we focused on exploring bioactive constituents in these medicinal foods, which would be applicable to remedy so-called metabolic syndrome. In this review, our recent studies on anti-hyperlipidemic saponin constituents from flowers of Bellis perennis are described.

  13. A novel BET bromodomain inhibitor, RVX-208, shows reduction of atherosclerosis in hyperlipidemic ApoE deficient mice.

    Science.gov (United States)

    Jahagirdar, Ravi; Zhang, Haiyan; Azhar, Salman; Tobin, Jennifer; Attwell, Sarah; Yu, Raymond; Wu, Jin; McLure, Kevin G; Hansen, Henrik C; Wagner, Gregory S; Young, Peter R; Srivastava, Rai Ajit K; Wong, Norman C W; Johansson, Jan

    2014-09-01

    Despite the benefit of statins in reducing cardiovascular risk, a sizable proportion of patients still remain at risk. Since HDL reduces CVD risk through a process that involves formation of pre-beta particles that facilitates the removal of cholesterol from the lipid-laden macrophages in the arteries, inducing pre-beta particles, may reduce the risk of CVD. A novel BET bromodomain antagonist, RVX-208, was reported to raise apoA-I and increase preβ-HDL particles in non-human primates and humans. In the present study, we investigated the effect of RVX-208 on aortic lesion formation in hyperlipidemic apoE(-/-) mice. Oral treatments of apoE(-/-) mice with 150 mg/kg b.i.d RVX-208 for 12 weeks significantly reduced aortic lesion formation, accompanied by 2-fold increases in the levels of circulating HDL-C, and ∼50% decreases in LDL-C, although no significant changes in plasma apoA-I were observed. Circulating adhesion molecules as well as cytokines also showed significant reduction. Haptoglobin, a proinflammatory protein, known to bind with HDL/apoA-I, decreased >2.5-fold in the RVX-208 treated group. With a therapeutic dosing regimen in which mice were fed Western diet for 10 weeks to develop lesions followed by switching to a low fat diet and concurrent treatment with RVX-208 for 14 weeks, RVX-208 similarly reduced lesion formation by 39% in the whole aorta without significant changes in the plasma lipid parameters. RVX-208 significantly reduced the proinflammatory cytokines IP-10, MIP1(®) and MDC. These results show that the antiatherogenic activity of BET inhibitor, RVX-208, occurs via a combination of lipid changes and anti-inflammatory activities.

  14. The hypolipidemic activity of Ayurvedic medicine, Arogyavardhini vati in Triton WR-1339-induced hyperlipidemic rats: A comparison with fenofibrate

    Directory of Open Access Journals (Sweden)

    Gajendra Kumar

    2013-01-01

    Full Text Available Background: Hyperlipidemia is a major risk factor of coronary heart disease. Currently available hypolipidemic drugs have been associated with number of side effects. Arogyavardhini vati, an Ayurvedic polyherbal formulation has been used for liver disorders. Therefore, present study was designed to evaluate the effect of Arogyavardhini vati in Triton WR-1339-induced hyperlipidemia in rats. Objectives: Anti-hyperlipidemic activity evaluation of Arogyavardhini vati against Triton WR-1339-induced hyperlipidemia in rats. Materials and Methods: Overnight fasted male Wistar rats (150-200 g were randomly divided into normal control group [4% Dimethyl Sulfoxide (DMSO, i.p.], positive control group (Triton WR-1339 in 4% DMSO, 400 mg/kg, i.p., standard drug treated (fenofibrate 65 mg/kg, p.o. for 7 days after inducing hyperlipidemia and Arogyavardhini vati treated (50, 100, 200 mg/kg, p.o. for 7 days after inducing hyperlipidemia. Rat doses were calculated by extrapolating the equivalent human dose (therapeutic dose, sub-maximum, and maximum dose. Serum total cholesterol, triglyceride, low-density lipoprotein (LDL, high-density lipoprotein HDL, liver malondialdehyde (MDA, and glutathione (GSH levels were estimated at end of experiments. Results: Arogyavardhini vati significantly decreased serum cholesterol, triglyceride, LDL, and C-reactive protein (CRP and significantly increased serum HDL in a dose-dependent manner. Decreased MDA and increased GSH levels in liver were observed at all doses of Arogyavardhini vati (50, 100, 200 mg/kg and fenofibrate-treated groups when compared with Triton-treated group. Atherogenic Index (AI level was significantly decreased in fenofibrate and Arogyavardhini vati (200 mg/kg treated rats when compared with normal control. Conclusion: Arogyavardhini vati, a traditionally used Ayurvedic medicine may be a useful therapy for hypercholesterolemia through reducing oxidative stress (decreasing MDA and increasing GSH and lipid

  15. Pharmacological inhibition of GSK-3β produces late phase of cardioprotection in hyperlipidemic rat: possible involvement of HSP 72.

    Science.gov (United States)

    Yadav, Harlokesh Narayan; Singh, Manjeet; Sharma, Pyare Lal

    2012-10-01

    The acute, as well as late, phase of cardioprotection induced by ischemic preconditioning is abolished in hyperlipidemic (HL) rat heart. The pharmacological inhibition of glycogen synthase kinase-3β (GSK-3β), has earlier been reported to restore this attenuated acute cardioprotective effect. However, it not known whether GSK-3β inhibitors administered 24 h before the ischemic injury would restore the late cardioprotective in HL rat and, if yes, the role of heat shock protein 72 (HSP 72) in its modulation. Hyperlipidemia was produced in rat by feeding high-fat diet for 6 weeks. Isolated perfused rat heart was subjected to 30 min of ischemia followed by 120 min of reperfusion (I/R). Myocardial infarct size was estimated by triphenyltetrazolium chloride staining, while lactate dehydrogenase (LDH) and creatine kinase-MB (CK-MB) levels were analyzed from coronary effluent. GSK-3β inhibitors, SB 216763 (SB, 0.6 mg/kg, i.p.), and indirubin-3 monoxime (IND, 0.4 mg/kg, i.p.), administered 24 h before the isolation of heart, significantly decreased the I/R-induced myocardial infarct size and the release of LDH and CK-MB. The cardioprotective effect of GSK-3β inhibitors was significantly attenuated by quercetin (4 mg/kg, i.p.), a HSP 72 inhibitor, administered 1 h before the administration of SB or IND. That the late phase of cardioprotection induced by pretreatment with GSK-3β inhibitors is not attenuated/lost in HL rat heart is a new finding in our study. Our results indicate that HSP 72 acts on pathway of GSK-3β and plays a significant role in cardioprotection.

  16. Comparison of Existing Clinical Scoring Systems in Predicting Severity and Prognoses of Hyperlipidemic Acute Pancreatitis in Chinese Patients

    Science.gov (United States)

    Qiu, Lei; Sun, Rui Qing; Jia, Rong Rong; Ma, Xiu Ying; Cheng, Li; Tang, Mao Chun; Zhao, Yan

    2015-01-01

    Abstract It is important to identify the severity of acute pancreatitis (AP) in the early course of the disease. Clinical scoring systems may be helpful to predict the prognosis of patients with early AP; however, few analysts have forecast the accuracy of scoring systems for the prognosis in hyperlipidemic acute pancreatitis (HLAP). The purpose of this study was to summarize the clinical characteristics of HLAP and compare the accuracy of conventional scoring systems in predicting the prognosis of HLAP. This study retrospectively analyzed all consecutively diagnosed AP patients between September 2008 and March 2014. We compared the clinical characteristics between HLAP and nonhyperlipidemic acute pancreatitis. The bedside index for severity of acute pancreatitis (BISAP), Ranson, computed tomography severity index (CTSI), and systemic inflammatory response syndrome (SIRS) scores were applied within 48 hours following admission. Of 909 AP patients, 129 (14.2%) had HLAP, 20 were classified as severe acute pancreatitis (SAP), 8 had pseudocysts, 9 had pancreatic necrosis, 30 had pleural effusions, 33 had SIRS, 14 had persistent organ failure, and there was 1 death. Among the HLAP patients, the area under curves for BISAP, Ranson, SIRS, and CTSI in predicting SAP were 0.905, 0.938, 0.812, and 0.834, 0.874, 0.726, 0.668, and 0.848 for local complications, and 0.904, 0.917, 0.758, and 0.849 for organ failure, respectively. HLAP patients were characterized by younger age at onset, higher recurrence rate, and being more prone to pancreatic necrosis, organ failure, and SAP. BISAP, Ranson, SIRS, and CTSI all have accuracy in predicting the prognosis of HLAP patients, but each has different strengths and weaknesses. PMID:26061329

  17. Digital dermatoglyphic heritability differences as evidenced by a female twin study.

    Science.gov (United States)

    Machado, João Felipe; Fernandes, Paula Roquetti; Roquetti, Ricardo Wagner; Filho, José Fernandes

    2010-10-01

    The genetic and environmental contributions to determine digital dermatoglyphic traits were investigated by using female dizygotic and monozygotic twin pairs to estimate heritability indexes (h(2)). The evaluated sample was composed by 20 monozygotic twin pairs and 13 dizygotic twin pairs. A significant heritability (h(2) = 0.65 to 0.96) was observed for 12 dermatoglyphic characteristics (delta indexes and ridge counts for right hand, left hand and both hands, and ridge counts for most individual fingers). A negative correlation between the ridge counts and heritability indexes from individual fingers was found for the left hand, which appears to be associated to a higher arch pattern frequency in most left-hand fingers, since this frequency was negatively correlated with ridge counts and positively correlated with heritability indexes. Heritability indexes of right-hand fingers were positively correlated with loop pattern frequency and negatively correlated with whorl pattern frequency. The low heritability of ridge counts from left thumb, ring and little fingers (h(2) = 0.11 to 0.32) indicates a higher chance that the chorion type had an influence in the intra-pair variance of monozygotic twins. Results confirmed the predominant genetic influence on the total ridge count. The heritability indexes varied in up to 8 times between different fingers and its association to ridge counts and pattern frequency was very variable between hands, evidencing that the use of dermatoglyphic traits from individual fingers as indicators of genetic influences to other human traits should consider this variability.

  18. Heritability of ECG Biomarkers in the Netherlands Twin Registry Measured from Holter ECGs.

    Science.gov (United States)

    Hodkinson, Emily C; Neijts, Melanie; Sadrieh, Arash; Imtiaz, Mohammad S; Baumert, Mathias; Subbiah, Rajesh N; Hayward, Christopher S; Boomsma, Dorret; Willemsen, Gonneke; Vandenberg, Jamie I; Hill, Adam P; De Geus, Eco

    2016-01-01

    The resting ECG is the most commonly used tool to assess cardiac electrophysiology. Previous studies have estimated heritability of ECG parameters based on these snapshots of the cardiac electrical activity. In this study we set out to determine whether analysis of heart rate specific data from Holter ECGs allows more complete assessment of the heritability of ECG parameters. Holter ECGs were recorded from 221 twin pairs and analyzed using a multi-parameter beat binning approach. Heart rate dependent estimates of heritability for QRS duration, QT interval, Tpeak-Tend and Theight were calculated using structural equation modeling. QRS duration is largely determined by environmental factors whereas repolarization is primarily genetically determined. Heritability estimates of both QT interval and Theight were significantly higher when measured from Holter compared to resting ECGs and the heritability estimate of each was heart rate dependent. Analysis of the genetic contribution to correlation between repolarization parameters demonstrated that covariance of individual ECG parameters at different heart rates overlap but at each specific heart rate there was relatively little overlap in the genetic determinants of the different repolarization parameters. Here we present the first study of heritability of repolarization parameters measured from Holter ECGs. Our data demonstrate that higher heritability can be estimated from the Holter than the resting ECG and reveals rate dependence in the genetic-environmental determinants of the ECG that has not previously been tractable. Future applications include deeper dissection of the ECG of participants with inherited cardiac electrical disease.

  19. Heritability of ECG Biomarkers in the Netherlands Twin Registry Measured from Holter ECGs

    Science.gov (United States)

    Hodkinson, Emily C.; Neijts, Melanie; Sadrieh, Arash; Imtiaz, Mohammad S.; Baumert, Mathias; Subbiah, Rajesh N.; Hayward, Christopher S.; Boomsma, Dorret; Willemsen, Gonneke; Vandenberg, Jamie I.; Hill, Adam P.; De Geus, Eco

    2016-01-01

    Introduction: The resting ECG is the most commonly used tool to assess cardiac electrophysiology. Previous studies have estimated heritability of ECG parameters based on these snapshots of the cardiac electrical activity. In this study we set out to determine whether analysis of heart rate specific data from Holter ECGs allows more complete assessment of the heritability of ECG parameters. Methods and Results: Holter ECGs were recorded from 221 twin pairs and analyzed using a multi-parameter beat binning approach. Heart rate dependent estimates of heritability for QRS duration, QT interval, Tpeak–Tend and Theight were calculated using structural equation modeling. QRS duration is largely determined by environmental factors whereas repolarization is primarily genetically determined. Heritability estimates of both QT interval and Theight were significantly higher when measured from Holter compared to resting ECGs and the heritability estimate of each was heart rate dependent. Analysis of the genetic contribution to correlation between repolarization parameters demonstrated that covariance of individual ECG parameters at different heart rates overlap but at each specific heart rate there was relatively little overlap in the genetic determinants of the different repolarization parameters. Conclusions: Here we present the first study of heritability of repolarization parameters measured from Holter ECGs. Our data demonstrate that higher heritability can be estimated from the Holter than the resting ECG and reveals rate dependence in the genetic—environmental determinants of the ECG that has not previously been tractable. Future applications include deeper dissection of the ECG of participants with inherited cardiac electrical disease. PMID:27199769

  20. Heritability of the somatotype components in Biscay families.

    Science.gov (United States)

    Rebato, E; Jelenkovic, A; Salces, I

    2007-01-01

    The anthropometric somatotype is a quantitative description of body shape and composition. Familial studies indicate the existence of a familial resemblance for this phenotype and they suggest a substantial action by genetic factors on this aggregation. The aim of this study is to examine the degree of familial resemblance of the somatotype components and of a factor of shape, in a sample of Biscay nuclear families (Basque Country, Spain). One thousand three hundred and thirty nuclear families were analysed. The anthropometric somatotype components [Carter, J.E.L., Heath, B.H., 1990. Somatotyping. Development and applications. Cambridge University Press, Cambridge, p. 503] were computed. Each component was fitted for the other two through a stepwise multiple regression, and also fitted through the LMS method [Cole, T., 1988. Fitting smoothed centile curves to reference data. J. Roy. Stat. Soc. 151, 385-418] in order to eliminate the age, sex and generation effects. The three raw components were introduced in a PCA from which a shape factor (PC1) was extracted for each generation. The correlations analysis was performed with the SEGPATH package [Province, M.A., Rao, D.C., 1995. General purpose model and computer programme for combined segregation and path analysis (SEGPATH): automatically creating computer from symbolic language model specifications. Genet. Epidemiol. 12, 203-219]. A general model of transmission and nine reduced models were tested. Maximal heritability was estimated with the formula of [Rice, T., Warwick, D.E., Gagnon, J., Bouchard, C., Leon, A.S., Skinner, J.S., Wilmore, J.H., Rao, D.C., 1997. Familial resemblance for body composition measures: the HERITAGE family study. Obes. Res. 5, 557-562]. The correlations were higher between offspring than in parents and offspring and a significant resemblance between mating partners existed. Maximum heritabilities were 55%, 52% and 46% for endomorphy, mesomorphy and ectomorphy, respectively, and 52% for PC1

  1. Assessment of anti-hyperlipidemic effect of Citrullus colocynthis Avaliação do efeito antihiperlipidêmico de Citrullus colocynthis

    Directory of Open Access Journals (Sweden)

    Marzyieh Zamani

    2007-12-01

    Full Text Available Hyperlipidemia is a well-known risk factor for several illnesses including atherosclerosis, heart and vascular diseases and stroke. In the search for potential anti-hyperlipidemic agents from plants to prevent these conditions, the pulp and the seeds of Citrullus colocynthis were assessed for their effects on the lipid profile of hyperlipidemic New Zealand rabbits. In the experimental groups that received the pulp of C. colocynthis or 100 mg/kg of seeds, the lipid profiles were significantly reduced when compared to the control group (PHiperlipidemia é um fator de risco bem conhecido para diversas doenças inclusive aterosclerose, doenças cardíacas e derrame cerebral. Na procura de potenciais agentes antihiperlipidêmicos a partir de plantas para prevenir essas doenças, a polpa e as sementes de Citrullus colocynthis foram testadas para verificar seus efeitos no perfil lipídico de coelhos Nova Zelândia hiperlipidêmicos. Nos grupos experimentais que receberam a polpa de C. colocynthis ou 100 mg/kg das sementes, os perfis lipídicos foram significantemente reduzidos quando comparados ao grupo de controle (P<0,05.

  2. The rationality of the hypolipidemic effect of alismatis rhizoma decoction, a classical chinese medicine formula in high-fat diet-induced hyperlipidemic mice.

    Science.gov (United States)

    Song, Chengwu; Huang, Xiaofei; Lu, Kungang; Peng, Min; Yu, Shanggong; Fang, Nianbai

    2014-01-01

    Alismatis Rhizoma Decoction (ARD) is a classical Traditional Chinese Medicine (TCM) formula for treatment of vertigo with its long history of successful clinical effect. Since vertigo is a symptom of hyperlipidemia, this study aimed at evaluating the hypolipidemic effect of ARD in hyperlipidemic mice induced by high fat diet (HFD) and investigated the rationality of formula combination of Alismatis Rhizoma (AR) and Atractylodis Macrocephalae Rhizoma (AMR). Compared with control group, hyperlipidemic mice in AR and ARD groups displayed a reduction of the following parameters: body weight, liver and serum total cholesterol, triglyceride concentration, liver and spleen coefficients, activities of serum aspartate aminotransferase (AST) and alanine aminotransferase (ALT); whereas the serum HDL-cholesterol levels were significantly elevated in both AR and ARD groups. AR and ARD treatments significantly down regulated the expressions of 3-hydroxy-3-methylglutharyl-coenzyme A reductase (HMG-CoA reductase) and sterol regulatory element binding factor-2 (SREBF-2). These findings clearly provided evidences that the suppression on biosynthesis of cholesterol in liver may in part contribute to the hypolipidemic effects of ARD and AR. Since no significantly hypolipidemic effect of AMR was observed, the more prominent effect of ARD than that of AR indicated synergistic effects of AR and AMR, and confirmed the rationality of ARD formula.

  3. Evaluation of the Effects of Cucumis sativus Seed Extract on Serum Lipids in Adult Hyperlipidemic Patients: A Randomized Double-Blind Placebo-Controlled Clinical Trial.

    Science.gov (United States)

    Soltani, Rasool; Hashemi, Mohammad; Farazmand, Alimohammad; Asghari, Gholamreza; Heshmat-Ghahdarijani, Kiyan; Kharazmkia, Ali; Ghanadian, Syed Mustafa

    2017-01-01

    Hyperlipidemia is associated with increased risk of atherosclerosis; therefore, control of this risk factor is very important in preventing atherosclerosis. Cucumber (Cucumis sativus) seed is used traditionally as a lipid-lowering nutritional supplement. The aim of this study was to evaluate the effect of cucumber seed extract on serum lipid profile in adult patients with mild hyperlipidemia. In a randomized double-blind placebo-controlled clinical trial, hyperlipidemic patients with inclusion criteria were randomly and equally assigned to either Cucumis or placebo groups and used one medicinal or placebo capsule, respectively, once daily with food for 6 wk. Body mass index (BMI) as well as fasting serum levels of total cholesterol, triglycerides (TG), low-density lipoprotein (LDL-C), and high-density lipoprotein (HDL-C) were measured for all patients pre- and post-intervention and finally the changes were compared between the groups. Twenty-four patients in Cucumis group and 23 patients in placebo group completed the study. Cucumis seed extract resulted in significant reduction of total cholesterol (P = 0.016), LDL-C (P < 0.001), TG (P < 0.001), and BMI (P < 0.001) as well as significant increase of HDL-C (P = 0.012) compared to placebo. In conclusion, the consumption of C. sativus seed extract with daily dose of 500 mg results in desirable effects on serum lipid profile in adult hyperlipidemic patients. Therefore, cucumber seed could be considered as a food supplement for treatment of dyslipidemia.

  4. 仙人掌多糖对高血脂小鼠血脂的影响%Effect of Polysaccharides from Opuntia dillenii Haw. on Hyperlipidemic Mice

    Institute of Scientific and Technical Information of China (English)

    林爱琴; 何爱明

    2015-01-01

    Objective To study the effect of polysaccharides from Opuntia dillenii Haw. on hyperlipidemic mice. Methods 28 mice were randomly divided into four groups. The hyperlipidemic mice models were established. Then the content of TC、TG、MDA and the activities of SOD in mice blood were determined. Results After 15 d treatment, the TC ,TG and MDA content in Opuntia dillenii Haw. group were lower than those in model group , and SOD content was higher than that in model group. Conclusion Polysaccharides from Opuntia dillenii Haw. has the funtion of reducing the blood lipid in mice.%目的:研究仙人掌多糖对高血脂小鼠体内血脂的影响。方法随机选用雄性SPF级小鼠28只,分为4组,建立高血脂小鼠模型,取血清对TC、TG、MDA含量及全血的SOD活性测定。结果给药15 d后,仙人掌多糖组小鼠的TC、TG与MDA含量均小于模型组,SOD含量大于模型组。结论仙人掌多糖具有降低小鼠体内血脂的作用。

  5. Heritability of telomere length in a study of long-lived families

    DEFF Research Database (Denmark)

    Honig, Lawrence S; Kang, Min Suk; Cheng, Rong

    2015-01-01

    in a given age group, it has been hypothesized to be a marker of biological aging. However, the principal basis for the variation of human LTL has not been established, although various studies have reported heritability. Here, we use a family-based study of longevity to study heritability of LTL in 3037...... individuals. We show that LTL is shorter in older individuals, and in males, and has a high heritability (overall h(2) = 0.54). In the offspring generation, who are in middle-life, we find an ordinal relationship: persons more-closely-related to elderly probands have longer LTL than persons less...

  6. Evidence for a heritable predisposition to Chronic Fatigue Syndrome

    Directory of Open Access Journals (Sweden)

    Bateman Lucinda

    2011-05-01

    Full Text Available Abstract Background Chronic Fatigue Syndrome (CFS came to attention in the 1980s, but initial investigations did not find organic causes. Now decades later, the etiology of CFS has yet to be understood, and the role of genetic predisposition in CFS remains controversial. Recent reports of CFS association with the retrovirus xenotropic murine leukemic virus-related virus (XMRV or other murine leukemia related retroviruses (MLV might also suggest underlying genetic implications within the host immune system. Methods We present analyses of familial clustering of CFS in a computerized genealogical resource linking multiple generations of genealogy data with medical diagnosis data of a large Utah health care system. We compare pair-wise relatedness among cases to expected relatedness in the Utah population, and we estimate risk for CFS for first, second, and third degree relatives of CFS cases. Results We observed significant excess relatedness of CFS cases compared to that expected in this population. Significant excess relatedness was observed for both close (p Conclusions These analyses provide strong support for a heritable contribution to predisposition to Chronic Fatigue Syndrome. A population of high-risk CFS pedigrees has been identified, the study of which may provide additional understanding.

  7. Ionizing radiation induces heritable disruption of epithelial cell interactions

    Science.gov (United States)

    Park, Catherine C.; Henshall-Powell, Rhonda L.; Erickson, Anna C.; Talhouk, Rabih; Parvin, Bahram; Bissell, Mina J.; Barcellos-Hoff, Mary Helen; Chatterjee, A. (Principal Investigator)

    2003-01-01

    Ionizing radiation (IR) is a known human breast carcinogen. Although the mutagenic capacity of IR is widely acknowledged as the basis for its action as a carcinogen, we and others have shown that IR can also induce growth factors and extracellular matrix remodeling. As a consequence, we have proposed that an additional factor contributing to IR carcinogenesis is the potential disruption of critical constraints that are imposed by normal cell interactions. To test this hypothesis, we asked whether IR affected the ability of nonmalignant human mammary epithelial cells (HMEC) to undergo tissue-specific morphogenesis in culture by using confocal microscopy and imaging bioinformatics. We found that irradiated single HMEC gave rise to colonies exhibiting decreased localization of E-cadherin, beta-catenin, and connexin-43, proteins necessary for the establishment of polarity and communication. Severely compromised acinar organization was manifested by the majority of irradiated HMEC progeny as quantified by image analysis. Disrupted cell-cell communication, aberrant cell-extracellular matrix interactions, and loss of tissue-specific architecture observed in the daughters of irradiated HMEC are characteristic of neoplastic progression. These data point to a heritable, nonmutational mechanism whereby IR compromises cell polarity and multicellular organization.

  8. Repeatability and Heritability of Behavioural Types in a Social Cichlid

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    Noémie Chervet

    2011-01-01

    Full Text Available Aim. The quantitative genetics underlying correlated behavioural traits (‘‘animal personality’’ have hitherto been studied mainly in domesticated animals. Here we report the repeatability ( and heritability (ℎ2 of behavioural types in the highly social cichlid fish Neolamprologus pulcher. Methods. We tested 1779 individuals repeatedly and calculated the ℎ2 of behavioural types by variance components estimation (GLMM REML, using 1327 offspring from 162 broods from 74 pairs. Results. Repeatability of behavioural types was significant and considerable (0.546, but declined from 0.83 between tests conducted on the same day, to 0.19 on tests conducted up to 1201 days apart. All ℎ2 estimates were significant but low (e.g., pair identity ℎ2=0.15±0.03 SE. Additionally, we found significant variation between broods nested within the parent(s, but these were not related to several environmental factors tested. Conclusions. We conclude that despite a considerable , ℎ2 in this cichlid species is low, and variability in behavioural type appears to be strongly affected by other (nongenetic effects.

  9. An evolutionary perspective on epistasis and the missing heritability.

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    Gibran Hemani

    2013-02-01

    Full Text Available The relative importance between additive and non-additive genetic variance has been widely argued in quantitative genetics. By approaching this question from an evolutionary perspective we show that, while additive variance can be maintained under selection at a low level for some patterns of epistasis, the majority of the genetic variance that will persist is actually non-additive. We propose that one reason that the problem of the "missing heritability" arises is because the additive genetic variation that is estimated to be contributing to the variance of a trait will most likely be an artefact of the non-additive variance that can be maintained over evolutionary time. In addition, it can be shown that even a small reduction in linkage disequilibrium between causal variants and observed SNPs rapidly erodes estimates of epistatic variance, leading to an inflation in the perceived importance of additive effects. We demonstrate that the perception of independent additive effects comprising the majority of the genetic architecture of complex traits is biased upwards and that the search for causal variants in complex traits under selection is potentially underpowered by parameterising for additive effects alone. Given dense SNP panels the detection of causal variants through genome-wide association studies may be improved by searching for epistatic effects explicitly.

  10. Handedness, heritability, neurocognition and brain asymmetry in schizophrenia.

    Science.gov (United States)

    Deep-Soboslay, Amy; Hyde, Thomas M; Callicott, Joseph P; Lener, Marc S; Verchinski, Beth A; Apud, José A; Weinberger, Daniel R; Elvevåg, Brita

    2010-10-01

    Higher rates of non-right-handedness (i.e. left- and mixed-handedness) have been reported in schizophrenia and have been a centrepiece for theories of anomalous lateralization in this disorder. We investigated whether non-right-handedness is (i) more prevalent in patients as compared with unaffected siblings and healthy unrelated control participants; (ii) familial; (iii) associated with disproportionately poorer neurocognition; and (iv) associated with grey matter volume asymmetries. We examined 1445 participants (375 patients with schizophrenia, 502 unaffected siblings and 568 unrelated controls) using the Edinburgh Handedness Inventory, a battery of neuropsychological tasks and structural magnetic resonance imaging data. Patients displayed a leftward shift in Edinburgh Handedness Inventory laterality quotient scores as compared with both their unaffected siblings and unrelated controls, but this finding disappeared when sex was added to the model. Moreover, there was no evidence of increased familial risk for non-right-handedness. Non-right-handedness was not associated with disproportionate neurocognitive disadvantage or with grey matter volume asymmetries in the frontal pole, lateral occipital pole or temporal pole. Non-right-handedness was associated with a significant reduction in left asymmetry in the superior temporal gyrus in both patients and controls. Our data neither provide strong support for 'atypical' handedness as a schizophrenia risk-associated heritable phenotype nor that it is associated with poorer neurocognition or anomalous cerebral asymmetries.

  11. Long-term estradiol treatment improves VIP-mediated vasodilation in atherosclerotic proximal coronary arteries

    DEFF Research Database (Denmark)

    Dalsgaard, T.; Mortensen, Alicja; Larsen, C. R.

    2003-01-01

    arteries. Female ovariectomized homozygous Watanabe heritable hyperlipidemic rabbits were randomized to 16 weeks treatment with 17beta-estradiol or placebo. The diet was semisynthetic, thereby avoiding the influence of phytoestrogens. Artery ring segments were mounted for isometric tension recordings...... in myographs. Following precontraction, the dose-response relationships for VIP and PACAP were evaluated. Treatment with 17beta-estradiol significantly improved the maximum VIP-mediated vasodilation (E-max, percentage of precontraction) in proximal coronary arteries (45.8 +/- 9.6% vs. 24.1 +/- 3.7%, p ....05). In the same artery segment, 17β-estradiol induced a significant decrease in the relative ratio between the repeated contractile response to potassium 30 and 120 mM (100 +/- 7% vs. 132 +/- 11%, p arteries, there was a tendency to similar changes, but no statistical differences...

  12. Evaluation of biodistribution and imaging of atherosclerotic lesions using [sup 111]In-labeled low-density lipoprotein

    Energy Technology Data Exchange (ETDEWEB)

    Yamashina, Hisayo (Toho Univ., Tokyo (Japan). School of Medicine)

    1993-07-01

    [sup 111]In-labeled low-density lipoprotein (LDL) was administered to Watanabe heritable hyperlipidemic rabbits (WHHL group) and control rabbits (control group) to evaluate its biodistribution and scintigraphic images by [gamma]-camera and radioactivity of each organ. With external imaging, the heart, liver, kidney, bone and spleen of each rabbit were observed. By setting the region of interest, the liver/heart ratio of the WHHL group was significantly lower than that of the control group (p<0.05), the plasma half life of LDL was longer and radioactivity in blood, heart and aorta was higher in the WHHL group. Each aorta was autoradiographed and significant accumulation of [sup 111]In-labeled-LDL was recognized in the aortic arch, bifurcation of intercostal and celiac artery in the WHHL group. By the use of labeled LDL with the combination of [gamma]-camera, it is capable of detecting the regulation of lipoprotein metabolism and imaging atherosclerotic lesions externally. (author).

  13. Hypolipidemic effects of chitosan and its derivatives in hyperlipidemic rats induced by a high-fat diet

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    Haitao Pan

    2016-05-01

    Full Text Available Background: Hyperlipidemia (HLP is the primary risk factor of cardiovascular disease (CVD. Various factors, including genetics, physical inactivity, and daily nutritional habits, affect the prevalence of HLP. Recently, it was revealed that dietary fibers, such as pectin, psyllium, and especially chitosan (CTS, may play important roles in hypolipidemic management. Thus, this study aims to determine the hypolipidemic effect and mechanism of CTS and its water-soluble derivatives, chitosan oligosaccharides (MN≤1,000 Da (COSI and MN≤3,000 Da (COSIII, in male hyperlipidemic rats induced by a high-fat diet (HFD. Design: After the model creation, 120 Sprague-Dawley (SD rats were equally assigned to 12 groups fed various diets as follows: the normal group with basic diet, an HFD group, an HFD group supplemented with three doses of CTS, COSI and COSIII groups, and an HFD group treated with simvastatin (7 mg/kg·d. After 6 weeks, body weight, fat/body ratio, and the relevant biomarkers of serum, liver, and feces were measured. Additionally, the histological analysis of liver and adipose tissue was performed, and the mRNA expressions of liver peroxisome proliferator-activated receptor-α (PPARα and hepatic lipase (HL were examined. Results: Compared with HFD group, rats fed CTS, COSI, and COSIII showed a better ability to regulate their body weight, liver and cardiac indices, fat/body ratio, as well as serum, liver, and fecal lipids, and simultaneously to maintain the appropriate activity of liver and serum superoxide dismutase (SOD, alanine aminotransferase (ALT, aspartate aminotransferase (AST, as well as liver and fecal total bile acids (TBA. Simultaneously, there had been a higher mRNA expression of PPARα and HL in the treatment groups. Conclusion: The obtained results suggested that these three function foods can effectively improve liver lipid metabolism by normalizing the expressions of PPARα and HL, and protect liver from the oxidized trauma

  14. Estimate of Heritability for Maturity Characteristics of an Early x Late ...

    African Journals Online (AJOL)

    Narrow sense heritabilities of maturity characteristics of common beans were estimated using the ... additive gene effects play an important. role in the inheritance of DFF, hence early generation .... mean of the original F z population (Xo)'.

  15. Literacy and numeracy are more heritable than intelligence in primary school.

    Science.gov (United States)

    Kovas, Yulia; Voronin, Ivan; Kaydalov, Andrey; Malykh, Sergey B; Dale, Philip S; Plomin, Robert

    2013-10-01

    Because literacy and numeracy are the focus of teaching in schools, whereas general cognitive ability (g, intelligence) is not, it would be reasonable to expect that literacy and numeracy are less heritable than g. Here, we directly compare heritabilities of multiple measures of literacy, numeracy, and g in a United Kingdom sample of 7,500 pairs of twins assessed longitudinally at ages 7, 9, and 12. We show that differences between children are significantly and substantially more heritable for literacy and numeracy than for g at ages 7 and 9, but not 12. We suggest that the reason for this counterintuitive result is that universal education in the early school years reduces environmental disparities so that individual differences that remain are to a greater extent due to genetic differences. In contrast, the heritability of g increases during development as individuals select and create their own environments correlated with their genetic propensities.

  16. Body mass index modulates blood pressure heritability: the Family Blood Pressure Program.

    Science.gov (United States)

    Simino, Jeannette; Shi, Gang; Weder, Alan; Boerwinkle, Eric; Hunt, Steven C; Rao, Dabeeru C

    2014-04-01

    Candidate gene and twin studies suggest that interactions between body mass index (BMI) and genes contribute to the variability of blood pressure (BP). To determine whether there is evidence for gene-BMI interactions, we investigated the modulation of BP heritability by BMI using 4,153 blacks, 1,538 Asians, 4,013 whites, and 2,199 Hispanic Americans from the Family Blood Pressure Program. To capture the BP heritability dependence on BMI, we employed a generalized variance components model incorporating linear and Gaussian interactions between BMI and the genetic component. Within each race and network subgroup, we used the Akaike information criterion and likelihood ratio test to select the appropriate interaction function for each BP trait (systolic BP (SBP), diastolic BP (DBP), mean arterial pressure (MAP), and pulse pressure (PP)) and determine interaction significance, respectively. BP heritabilities were significantly modified by BMI in the GenNet and SAPPHIRe Networks, which contained the youngest and least-obese participants, respectively. GenNet Whites had unimodal SBP, MAP, and PP heritabilities that peaked between BMI values of 33 and 37kg/m(2). The SBP and MAP heritabilities in GenNet Hispanic Americans, as well as the PP heritability in GenNet blacks, were increasing functions of BMI. The DBP and SBP heritabilities in the SAPPHIRe Chinese and Japanese, respectively, were decreasing functions of BMI. BP heritability differed by BMI in the youngest and least-obese networks, although the shape of this dependence differed by race. Use of nonlinear gene-BMI interactions may enhance BP gene discovery efforts in individuals of European ancestry.

  17. Estimating the Broad-Sense Heritability of Early Growth of Cowpea

    OpenAIRE

    Xu, Nicole W.; Xu, Shizhong; Ehlers, Jeff

    2009-01-01

    Cowpea is an important tropical crop. It provides a large proportion of the food resource for the African human population and their livestock. The yield and quality of cowpea have been dramatically improved through traditional breeding strategies for the past few decades. However, reports of heritability estimates for early growth of cowpea are rare. We designed a simple experiment to estimate the broad-sense heritability of early growth. We randomly selected 15 cowpea varieties among a tota...

  18. Heritability of MMPI-2 scales in the UCSF Family Alcoholism Study

    Science.gov (United States)

    Gizer, Ian R.; Seaton-Smith, Kimberley L.; Ehlers, Cindy L.; Vietan, Cassandra; Wilhelmsen, Kirk C.

    2009-01-01

    The present study evaluated the heritability of personality traits and psychopathology symptoms assessed by the Minnesota Multiphasic Personality Interview 2nd edition (MMPI-2) in a family-based sample selected for alcohol dependence. Participants included 950 probands and 1204 first-degree relatives recruited for the UCSF Family Alcoholism Study. Heritability estimates (h2) for MMPI-2 scales ranged from .25–.49. When alcohol dependence was used as a covariate, heritability estimates remained significant but generally declined. However, when the MMPI-2 scales were used as covariates to estimate the heritability of alcohol dependence, scales measuring antisocial behavior (ASP), depressive symptoms (DEP), and addictive behavior (MAC-R) led to moderate increases in the heritability of alcohol dependence. This suggests that the ASP, DEP, and MAC-R scales may explain some of the non-genetic variance in the alcohol dependence diagnosis in this population when utilized as covariates, and thus may serve to produce a more homogeneous and heritable alcohol dependence phenotype. PMID:20390702

  19. The contribution of social effects to heritable variation in finishing traits of domestic pigs (Sus scrofa).

    Science.gov (United States)

    Bergsma, R; Kanis, E; Knol, E F; Bijma, P

    2008-03-01

    Social interactions among individuals are ubiquitous both in animals and in plants, and in natural as well as domestic populations. These interactions affect both the direction and the magnitude of responses to selection and are a key factor in evolutionary success of species and in the design of breeding schemes in agriculture. At present, however, very little is known of the contribution of social effects to heritable variance in trait values. Here we present estimates of the direct and social genetic variance in growth rate, feed intake, back fat thickness, and muscle depth in a population of 14,032 domestic pigs with known pedigree. Results show that social effects contribute the vast majority of heritable variance in growth rate and feed intake in this population. Total heritable variance expressed relative to phenotypic variance was 71% for growth rate and 70% for feed intake. These values clearly exceed the usual range of heritability for those traits. Back fat thickness and muscle depth showed no heritable variance due to social effects. Our results suggest that genetic improvement in agriculture can be substantially advanced by redirecting breeding schemes, so as to capture heritable variance due to social effects.

  20. Heritability of lumbar trabecular bone mechanical properties in baboons.

    Science.gov (United States)

    Havill, L M; Allen, M R; Bredbenner, T L; Burr, D B; Nicolella, D P; Turner, C H; Warren, D M; Mahaney, M C

    2010-03-01

    Genetic effects on mechanical properties have been demonstrated in rodents, but not confirmed in primates. Our aim was to quantify the proportion of variation in vertebral trabecular bone mechanical properties that is due to the effects of genes. L3 vertebrae were collected from 110 females and 46 male baboons (6-32 years old) from a single extended pedigree. Cranio-caudally oriented trabecular bone cores were scanned with microCT then tested in monotonic compression to determine apparent ultimate stress, modulus, and toughness. Age and sex effects and heritability (h(2)) were assessed using maximum likelihood-based variance components methods. Additive effects of genes on residual trait variance were significant for ultimate stress (h(2)=0.58), toughness (h(2)=0.64), and BV/TV (h(2)=0.55). When BV/TV was accounted for, the residual variance in ultimate stress accounted for by the additive effects of genes was no longer significant. Toughness, however, showed evidence of a non-BV/TV-related genetic effect. Overall, maximum stress and modulus show strong genetic effects that are nearly entirely due to bone volume. Toughness shows strong genetic effects related to bone volume and shows additional genetic effects (accounting for 10% of the total trait variance) that are independent of bone volume. These results support continued use of bone volume as a focal trait to identify genes related to skeletal fragility, but also show that other focal traits related to toughness and variation in the organic component of bone matrix will enhance our ability to find additional genes that are particularly relevant to fatigue-related fractures.

  1. HPLC-DAD-MS/MS profiling of phenolics from Securigera securidaca flowers and its anti-hyperglycemic and anti-hyperlipidemic activities

    Directory of Open Access Journals (Sweden)

    Rana M. Ibrahim

    2015-04-01

    Full Text Available Abstract Securigera securidaca (L. Degen & Döefl., Fabaceae, has been widely used in the Iranian, Indian and Egyptian folk medicine as antidiabetic and anti-hyperlipidemic remedy. Phenolic profiling of the ethanolic extract (90% of the flowers of S. securidaca was performed via HPLC-DAD-MS/MS analysis in the positive and negative ion modes. The total polyphenols and flavonoids in the flowers were determined colorimetrically, and the quantification of their components was carried out using HPLC-UV. Total phenolics and flavonoids estimated as gallic acid and rutin equivalents were 82.39 ± 2.79 mg/g and 48.82 ± 1.95 mg/g of the dried powdered flowers, respectively. HPLC-DAD-MS/MS analysis of the extract allowed the identification of 39 flavonoids and eight phenolic acids. Quantitative analysis of some flavonoids and phenolics (mg/100 g powdered flowers revealed the presence of isoquercetrin (3340 ± 2.1, hesperidin (32.09 ± 2.28, naringin (197.3 ± 30.16, luteolin (10.247 ± 0.594, chlorogenic acid (84.22 ± 2.08, catechin (3.94 ± 0.57 and protocatechuic acid (34.4 ± 0.15, in the extract. Moreover, the acute toxicity, hypoglycemic and hypolipidemic effects of the extract were investigated using alloxan induced diabetes in rats in a dose of 100, 200, and 400 mg/kg bwt. The ethanolic extract was safe up to a dose of 2000 mg/kg. All tested doses of the flower extract showed marked decrease in blood glucose level by 31.78%, 66.41% and 63.8% at 100, 200 and 400 mg/kg bwt, respectively, at p < 0.05. Regarding the anti-hyperlipidemic effect, a dose of 400 mg/kg of the flower extract showed the highest reduction in serum triacylglycerides and total cholesterol levels (68.46% and 51.50%, respectively at p < 0.05. The current study proved the folk use of the flowers of S. securidaca as anti-diabetic and anti-hyperlipidemic agent which could be attributed to its high phenolic content.

  2. Weight losing, antihyperlipidemic and cardioprotective effects of the alkaloid fraction of Hunteria umbellata seed extract on normal and triton-induced hyperlipidemic rats

    Institute of Scientific and Technical Information of China (English)

    Adejuwon; Adewale; Adeneye; Peter; Anthony; Crooks

    2015-01-01

    Objective: To investigate the weight losing, antihyperlipidemic and cardioprotective effects of the alkaloid fraction of Hunteria umbellata(H. umbellata) seed.Methods: Adult female Wistar rats(weight range: 120-150 g) were randomly divided into 4 and 5 treatment groups in the normal and triton-induced hyperlipidemic models, respectively. and were daily treated for 14 d before they were humanely sacrificed under inhaled diethyl ether anesthesia. About 5 mL of whole blood was obtained by cardiac puncture from each treated rat, from which serum for lipids assay was subsequently separated. Tissue samples of livers of treated rats were harvested and processed for histopathological analysis.Results: Repeated daily oral treatments of normal rats with 25 and 50 mg/kg/day of alkaloid fraction of H. umbellata resulted in significant(P<0.05 and P<0.001) and dose-dependent weight loss, and decreases in the serum triglyceride, total cholesterol and low density lipoprotein cholesterol, while significantly(P<0.001) increased the serum levels of high density lipoprotein cholesterol fraction. Similarly, oral pre-treatments with 25 and 50 mg/kg/day of alkaloid fraction of H. umbellata for 14 d before induction of hyperlipidemia with triton WR-1339 significantly(P<0.01, P<0.001) and dose-dependently attenuated increases in the average body weights, serum levels of triglyceride, total cholesterol and low density lipoprotein cholesterol while also significantly(P<0.01, P<0.001) and dose-dependently attenuated significant(P<0.001) decrease in the serum high-density lipoproteincholesterol levels when compared to the untreated control values. However, the results obtained for 50 mg/kg of alkaloid fraction of H. umbellata in both normal and triton WR-1339-induced hyperlipidemic rats were comparable to that recorded for 20 mg/kg of simvastatin. Similarly, oral pretreatments with 25 and 50 mg/kg/day of alkaloid fraction of H. umbellata significantly improved the histological lesions of fatty

  3. Hypolipidemic Effects of Biopolymers Extracted from Culture Broth, Mycelia, and Fruiting Bodies of Auricularia auricula-judae in Dietary-induced Hyperlipidemic Rats

    Science.gov (United States)

    Jeong, Hun; Yang, Byung-Keun; Jeong, Yong-Tae; Kim, Guk-Nam; Jeong, Yu-Sun; Kim, Sang-Min; Mehta, Pradeep

    2007-01-01

    Hypolipidemic effect of biopolymers extracted from culture broth (CP), mycelia (MP), and fruiting bodies (FP) of Auricularia auricula-judae was investigated in dietary-induced hyperlipidemic rats. The experimental animals were administrated (100 mg/kg body weight) with different biopolymers, daily for 4 weeks. Hypolipidemic effects were achieved in all the experimental groups, however, FP was proved to be the most potent one. The administration of the FP reduced the plasma triglyceride, total cholesterol, low-density lipoprotein cholesterol, and atherogenic index by 24.3, 28.5, 36.4, and 40.9%, respectively, while increased the high-density lipoprotein cholesterol level (9.0%), when compared to the saline (control) administered group. PMID:24015062

  4. 急性高脂血症性胰腺炎临床特征探讨%Investigation of the Clinical Features of Acute Hyperlipidemic Pancreatitis

    Institute of Scientific and Technical Information of China (English)

    林伟国; 程变巧; 许艺容

    2015-01-01

    Objective To compare the clinical features of acute hyperlipidemic pancreatitis with that of acute gallstone pancreatitis so as to make clear its guide significances for the clinical diagnosis and treatment. Methods 128 patients with acute pancreatitis admitted to our hospital from January 2010 to December 2013 were selected as the research object, 92 with acute gallstone pan-creatitis, 23 with acute hyperlipidemic pancreatitis, 8 with alcoholic pancreatitis and 5 with pancreatitis of other type. In terms of the incidence of fatty liver, diabetes, impaired liver function and serum amylase, as well as of the CTSI score and ABPAPACHE score, the two groups were compared. Results In terms of the incidence of fatty liver, diabetes, hyperlipidemia, severe acute pan-creatitis, acute hyperlipidemic pancreatitis was significantly higher than acute gallstone pancreatitis; but in terms of the incidence of impaired liver function and serum amylase, the former was lower than the latter, and the differences were statistically significant (P<0.05). Conclusion Acute hyperlipidemic pancreatitis has the clinical features of high blood lipid, low serum amylase and severe illness status which were different with those of common acute pancreatitis. Fully understanding of these clinical features is con-ducive to clinical diagnosis and treatment.%目的:通过对急性高脂血症性胰腺炎和急性胆源性胰腺炎的临床特征对比分析明确前者对临床诊断和治疗的指导意义。方法以该院收治的2010年1月—2013年12月128例急性胰腺炎患者作为研究对象,其中急性胆源性胰腺炎ABP92例、急性高脂血症性胰腺炎AHP23例、(酒精性胰腺炎8例以及其他类型5例)。比较分析二者在脂肪肝、糖尿病发生率以及肝功能受损和血淀粉酶等关系,(急性高脂血症性胰腺炎CTSI,ABPAPACHE评分高。结果急性高脂血症性胰腺炎在脂肪肝发生率、糖尿病发生率、血脂、重症急性

  5. Genetic heritability of ischemic stroke and the contribution of previously reported candidate gene and genomewide associations.

    Science.gov (United States)

    Bevan, Steve; Traylor, Matthew; Adib-Samii, Poneh; Malik, Rainer; Paul, Nicola L M; Jackson, Caroline; Farrall, Martin; Rothwell, Peter M; Sudlow, Cathie; Dichgans, Martin; Markus, Hugh S

    2012-12-01

    The contribution of genetics to stroke risk, and whether this differs for different stroke subtypes, remainsuncertain. Genomewide complex trait analysis allows heritability to be assessed from genomewide association study (GWAS) data. Previous candidate gene studies have identified many associations with stoke but whether these are important requires replication in large independent data sets. GWAS data sets provide a powerful resource to perform replication studies. We applied genomewide complex trait analysis to a GWAS data set of 3752 ischemic strokes and 5972 controls and determined heritability for all ischemic stroke and the most common subtypes: large-vessel disease, small-vessel disease, and cardioembolic stroke. By systematic review we identified previous candidate gene and GWAS associations with stroke and previous GWAS associations with related cardiovascular phenotypes (myocardial infarction, atrial fibrillation, and carotid intima-media thickness). Fifty associations were identified. For all ischemic stroke, heritability was 37.9%. Heritability varied markedly by stroke subtype being 40.3% for large-vessel disease and 32.6% for cardioembolic but lower for small-vessel disease (16.1%). No previously reported candidate gene was significant after rigorous correction for multiple testing. In contrast, 3 loci from related cardiovascular GWAS studies were significant: PHACTR1 in large-vessel disease (P=2.63e(-6)), PITX2 in cardioembolic stroke (P=4.78e(-8)), and ZFHX3 in cardioembolic stroke (P=5.50e(-7)). There is substantial heritability for ischemic stroke, but this varies for different stroke subtypes. Previous candidate gene associations contribute little to this heritability, but GWAS studies in related cardiovascular phenotypes are identifying robust associations. The heritability data, and data from GWAS, suggest detecting additional associations will depend on careful stroke subtyping.

  6. Heritability of antibody isotype and subclass responses to Plasmodium falciparum antigens.

    Directory of Open Access Journals (Sweden)

    Nancy O Duah

    Full Text Available BACKGROUND: It is important to understand the extent to which genetic factors regulate acquired immunity to common infections. A classical twin study design is useful to estimate the heritable component of variation in measurable immune parameters. METHODOLOGY/PRINCIPAL FINDINGS: This study assessed the relative heritability of different plasma antibody isotypes and subclasses (IgG1, IgG2, IgG3, IgG4, IgM, IgA and IgE naturally acquired to P. falciparum blood stage antigens AMA1, MSP1-19, MSP2 (two allelic types and MSP3 (two allelic types. Separate analyses were performed on plasma from 213 pairs of Gambian adult twins, 199 child twin pairs sampled in a dry season when there was little malaria transmission, and another set of 107 child twin pairs sampled at the end of the annual wet season when malaria was common. There were significantly positive heritability (h(2 estimates for 48% (20/42 of the specific antibody assays (for the seven isotypes and subclasses to the six antigens tested among the adults, 48% (20/42 among the children in the dry season and 31% (13/42 among the children in the wet season. In children, there were significant heritability estimates for IgG4 reactivity against each of the antigens, and this subclass had higher heritability than the other subclasses and isotypes. In adults, 75% (15/20 of the significantly heritable antigen-specific isotype responses were attributable to non-HLA class II genetic variation, whereas none showed a significant HLA contribution. SIGNIFICANCE: Genome-wide approaches are now warranted to map the major genetic determinants of variable antibody isotype and subclass responses to malaria, alongside evaluation of their impact on infection and disease. Although plasma levels of IgG4 to malaria antigens are generally low, the exceptionally high heritability of levels of this subclass in children deserves particular investigation.

  7. Heritability of racing durability traits in the Australian and Hong Kong Thoroughbred racing populations.

    Science.gov (United States)

    Velie, B D; Hamilton, N A; Wade, C M

    2016-05-01

    Many attempts have been made to improve the well-being of racing Thoroughbreds through improvements in management and veterinary care. However, these attempts are often limited by the industry's ability to regulate a large number of environmental variables and as a result have arguably had limited success in providing long-lasting change for the breed. To identify heritable durability traits for Thoroughbred horses racing in Australia and Hong Kong. Heritability analysis of a longitudinal dataset. Performance data on the Thoroughbred populations racing in Australia and Hong Kong between 2000 and 2011 (n = 168,993) were used to estimate the heritabilities and probability values of fixed effects and covariates for a range of racing durability traits. Heritabilities for all durability traits were estimated using a single trait animal model. Each model included, as a minimum, the effects of sex and trainer. Racing longevity (0.12 ± 0.01), racing persistence (0.10 ± 0.01), racing frequency (0.03 ± 0.01), spells (a time period between consecutive races, official trials and/or jump-outs greater than 90 days in length) per year (0.05 ± 0.01), spells per 10 starts (0.03 ± 0.01) and variation of days between races (0.08 ± 0.03) were all significantly heritable for horses racing in Australia. Racing longevity (0.08 ± 0.02), racing persistence (0.04 ± 0.02), spells per year (0.06 ± 0.02) and spells per 10 starts (0.11 ± 0.04) were significantly heritable for horses racing in Hong Kong. The heritabilities estimated for durability traits in this study provide support for the successful and practical application of genetic selection methodologies to improving the well-being of racing Thoroughbreds. © 2015 EVJ Ltd.

  8. Camphene, a Plant-Derived Monoterpene, Reduces Plasma Cholesterol and Triglycerides in Hyperlipidemic Rats Independently of HMG-CoA Reductase Activity

    Science.gov (United States)

    Vallianou, Ioanna; Peroulis, Nikolaos; Pantazis, Panayotis; Hadzopoulou-Cladaras, Margarita

    2011-01-01

    Background Central to the pathology of coronary heart disease is the accumulation of lipids, cholesterol and triglycerides, within the intima of arterial blood vessels. The search for drugs to treat dislipidemia, remains a major pharmaceutical focus. In this study, we evaluated the hypolipidemic properties of the essential oil from Chios mastic gum (MGO). Methodology/Principal Findings The hypolipidemic effect of MGO was investigated in naïve as well as in rats susceptible to detergent-induced hyperlipidemia. Serum cholesterol and triglycerides were determined using commercial kits. HMG-CoA (3-hydroxy-3-methylglutaryl coenzyme A) reductase activity was measured in HepG2 cell extracts using a radioactive assay; cellular cholesterol and cholesterol esters were assessed using gas chromatography. MGO administration into naïve rats resulted in a dose-dependent reduction in the constitutive synthesis of serum cholesterol and triglycerides. In hyperlipidemic rats, MGO treatment had also a strong hypolipidemic effect. By testing various components of MGO, we show for the first time that the hypolipidemic action is associated with camphene. Administration of camphene at a dose of 30 µg/gr of body weight in hyperlipidemic rats resulted in a 54.5% reduction of total cholesterol (p<0.001), 54% of Low Density Lipoprotein (LDL)-cholesterol (p<0.001) and 34.5% of triglycerides (p<0.001). Treatment of HepG2 cells with camphene led to a decrease in cellular cholesterol content to the same extend as mevinolin, a known HMG-CoA reductase inhibitor. The hypolipidemic action of camphene is independent of HMG-CoA reductase activity, suggesting that its hypocholesterolemic and hypotriglyceridemic effects are associated with a mechanism of action different than that of statins. Conclusions Given the critical role that the control of hyperlipidemia plays in cardiovascular disease, the results of our study provide insights into the use of camphene as an alternative lipid lowering agent

  9. Evaluation of the effect of Vaccinium arctostaphylos L. fruit extract on serum inflammatory biomarkers in adult hyperlipidemic patients: a randomized double-blind placebo-controlled clinical trial

    Science.gov (United States)

    Asgary, Sedigheh; Soltani, Rasool; Mirvakili, Saeide; Sarrafzadegan, Nizal

    2016-01-01

    Atherosclerosis is a chronic inflammatory condition. Many pro-inflammatory factors including interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), C-reactive protein (CRP), and adhesion molecules including intercellular adhesion molecule (ICAM-1) and vascular cell adhesion molecule (VCAM-1) are expressed in atherosclerotic lesions. The plants of genus Vaccinium are rich in anthocyanins with anti-inflammatory effects. This study aimed to evaluate the effects of Vaccinium arctostaphylos fruit extract on the serum level of TNF-α, IL-6, ICAM-1, and VCAM-1 in adult patients with mild hyperlipidemia to detect its possible inhibitory effects on progression of atherosclerosis. In a randomized double-blind placebo-controlled clinical trial, eligible hyperlipidemic patients were randomly and equally divided in to two groups of study drug or placebo control to receive either the Vaccinium extract or placebo capsules, respectively, twice daily for four consecutive weeks. Each drug capsule contained 0.8 mg of anthocyanins. Serum levels of TNF-α, IL-6, ICAM-1, and VCAM-1 were measured before and after the interventions and finally were compared.A total of 8 men and 12 women in drug group as well as 11 men and 9 women in placebo group completed the study (P = 0.527). The use of Vaccinium extract significantly reduced only the IL-6 level (P = 0.037); however, this reduction was not significant compared to placebo (P = 0.062). Consumption of Vaccinium arctostaphylos fruit extract with the dose of 500 mg twice daily did not show any significant effect on serum levels of TNF-α, IL-6, ICAM-1, and VCAM-1 in adult hyperlipidemic patients. However, considering slight decrease in the level of IL-6, ICAM-1, and VCAM-1, the use of higher doses with longer duration might have significant effects on these factors. PMID:27651815

  10. Camphene, a plant-derived monoterpene, reduces plasma cholesterol and triglycerides in hyperlipidemic rats independently of HMG-CoA reductase activity.

    Science.gov (United States)

    Vallianou, Ioanna; Peroulis, Nikolaos; Pantazis, Panayotis; Hadzopoulou-Cladaras, Margarita

    2011-01-01

    Central to the pathology of coronary heart disease is the accumulation of lipids, cholesterol and triglycerides, within the intima of arterial blood vessels. The search for drugs to treat dislipidemia, remains a major pharmaceutical focus. In this study, we evaluated the hypolipidemic properties of the essential oil from Chios mastic gum (MGO). The hypolipidemic effect of MGO was investigated in naïve as well as in rats susceptible to detergent-induced hyperlipidemia. Serum cholesterol and triglycerides were determined using commercial kits. HMG-CoA (3-hydroxy-3-methylglutaryl coenzyme A) reductase activity was measured in HepG2 cell extracts using a radioactive assay; cellular cholesterol and cholesterol esters were assessed using gas chromatography. MGO administration into naïve rats resulted in a dose-dependent reduction in the constitutive synthesis of serum cholesterol and triglycerides. In hyperlipidemic rats, MGO treatment had also a strong hypolipidemic effect. By testing various components of MGO, we show for the first time that the hypolipidemic action is associated with camphene. Administration of camphene at a dose of 30 µg/gr of body weight in hyperlipidemic rats resulted in a 54.5% reduction of total cholesterol (pcholesterol (ptriglycerides (pcholesterol content to the same extend as mevinolin, a known HMG-CoA reductase inhibitor. The hypolipidemic action of camphene is independent of HMG-CoA reductase activity, suggesting that its hypocholesterolemic and hypotriglyceridemic effects are associated with a mechanism of action different than that of statins. Given the critical role that the control of hyperlipidemia plays in cardiovascular disease, the results of our study provide insights into the use of camphene as an alternative lipid lowering agent and merits further evaluation.

  11. Estimates of repeatability and heritability of productive and reproductive traits in a herd of Jersey cattle

    Directory of Open Access Journals (Sweden)

    Roman R.M.

    2000-01-01

    Full Text Available Estimates of the repeatability and heritability of 19 measures of performance in Jersey cows were obtained using an animal model with a relationship matrix and a derivative-free restricted maximum likelihood algorithm. The data consisted of 935 records for 374 cows by 69 sires over the period 1969-1987. The estimates were similar to those obtained by ordinary least squares methods reported for the same data set and in other studies, but had smaller error variances. A likelihood ratio test showed agreement between these heritability estimates and those in the literature. The heritability estimates of milk, fat, protein, lactose-mineral, solids-not-fat, and total solids yields were about 0.25; for the corresponding percentages, and for the protein to fat and solids-not-fat to fat ratios, the estimates were 0.50. Heritability estimates were 0.10 or less for the time from parturition to first breeding and for three measures of somatic cell counts. These estimates of heritability in a dairy cattle population in a subtropical environment were not different from those of populations in temperate climates.

  12. Evidence for higher heritability of somatotype compared to body mass index in female twins.

    Science.gov (United States)

    Reis, Victor Machado; Machado, João V; Fortes, Marcos S; Fernandes, Paula Roquetti; Silva, António José; Dantas, Paulo Silva; Filho, José Fernandes

    2007-01-01

    The influence of genetics on human physique and obesity has been addressed by the literature. Evidence for heritability of anthropometric characteristics has been previously described, mainly for the body mass index (BMI). However, few studies have investigated the influence of genetics on the Heath-Carter somatotype. The aim of the present study was to assess the heritability of BMI and somatotype (endomorphy, mesomorphy, and ectomorphy) in a group of female monozygotic and dizygotic twins from childhood to early adulthood. A total of 28 females aged from 7 to 19 years old were studied. The group included 5 monozygotic and 9 dizygotic pairs of twins. The heritability was assessed by the twin method (h(2)). The anthropometric measures and somatotype were assessed using standard validated procedures. Significant differences between monozygotic and dizygotic pairs of twins were found for height, endomorphy, ectomorphy, and mesomorphy, and the heritability for these measures was high (h(2) between 0.88 and 0.97). No significant differences were found between monozygotic and dizygotic twins for weight, and the BMI and the heritability indexes were lower for these measures (respectively 0.42 and 0.52). The results of the present study have indicated that the somatotype may be more sensible to genetic influences than the BMI in females.

  13. On the Estimation of Heritability with Family-Based and Population-Based Samples

    Directory of Open Access Journals (Sweden)

    Youngdoe Kim

    2015-01-01

    Full Text Available For a family-based sample, the phenotypic variance-covariance matrix can be parameterized to include the variance of a polygenic effect that has then been estimated using a variance component analysis. However, with the advent of large-scale genomic data, the genetic relationship matrix (GRM can be estimated and can be utilized to parameterize the variance of a polygenic effect for population-based samples. Therefore narrow sense heritability, which is both population and trait specific, can be estimated with both population- and family-based samples. In this study we estimate heritability from both family-based and population-based samples, collected in Korea, and the heritability estimates from the pooled samples were, for height, 0.60; body mass index (BMI, 0.32; log-transformed triglycerides (log TG, 0.24; total cholesterol (TCHL, 0.30; high-density lipoprotein (HDL, 0.38; low-density lipoprotein (LDL, 0.29; systolic blood pressure (SBP, 0.23; and diastolic blood pressure (DBP, 0.24. Furthermore, we found differences in how heritability is estimated—in particular the amount of variance attributable to common environment in twins can be substantial—which indicates heritability estimates should be interpreted with caution.

  14. Heritability estimates of the Big Five personality traits based on common genetic variants.

    Science.gov (United States)

    Power, R A; Pluess, M

    2015-07-14

    According to twin studies, the Big Five personality traits have substantial heritable components explaining 40-60% of the variance, but identification of associated genetic variants has remained elusive. Consequently, knowledge regarding the molecular genetic architecture of personality and to what extent it is shared across the different personality traits is limited. Using genomic-relatedness-matrix residual maximum likelihood analysis (GREML), we here estimated the heritability of the Big Five personality factors (extraversion, agreeableness, conscientiousness, neuroticism and openness for experience) in a sample of 5011 European adults from 527,469 single-nucleotide polymorphisms across the genome. We tested for the heritability of each personality trait, as well as for the genetic overlap between the personality factors. We found significant and substantial heritability estimates for neuroticism (15%, s.e. = 0.08, P = 0.04) and openness (21%, s.e. = 0.08, P agreeableness and conscientiousness. The bivariate analyses showed that the variance explained by common variants entirely overlapped between neuroticism and openness (rG = 1.00, P personality traits using the GREML approach. Findings should be considered exploratory and suggest that detectable heritability estimates based on common variants is shared between neuroticism and openness to experiences.

  15. Gating Deficit Heritability and Correlation With Increased Clinical Severity in Schizophrenia Patients With Positive Family History.

    Science.gov (United States)

    Greenwood, Tiffany A; Light, Gregory A; Swerdlow, Neal R; Calkins, Monica E; Green, Michael F; Gur, Raquel E; Gur, Ruben C; Lazzeroni, Laura C; Nuechterlein, Keith H; Olincy, Ann; Radant, Allen D; Seidman, Larry J; Siever, Larry J; Silverman, Jeremy M; Stone, William S; Sugar, Catherine A; Tsuang, Debby W; Tsuang, Ming T; Turetsky, Bruce I; Freedman, Robert; Braff, David L

    2016-04-01

    The Consortium on the Genetics of Schizophrenia Family Study evaluated 12 primary and other supplementary neurocognitive and neurophysiological endophenotypes in schizophrenia probands and their families. Previous analyses of prepulse inhibition (PPI) and P50 gating measures in this sample revealed heritability estimates that were lower than expected based on earlier family studies. Here the authors investigated whether gating measures were more heritable in multiply affected families with a positive family history compared with families with only a single affected proband (singleton). A total of 296 nuclear families consisting of a schizophrenia proband, at least one unaffected sibling, and both parents underwent a comprehensive endophenotype and clinical characterization. The Family Interview for Genetic Studies was administered to all participants and used to obtain convergent psychiatric symptom information for additional first-degree relatives. Among the families, 97 were multiply affected, and 96 were singletons. Both PPI and P50 gating displayed substantially increased heritability in the 97 multiply affected families (47% and 36%, respectively) compared with estimates derived from the entire sample of 296 families (29% and 20%, respectively). However, no evidence for heritability was observed for either measure in the 96 singleton families. Schizophrenia probands derived from the multiply affected families also displayed a significantly increased severity of clinical symptoms compared with those from singleton families. PPI and P50 gating measures demonstrate substantially increased heritability in schizophrenia families with a higher genetic vulnerability for illness, providing further support for the commonality of genes underlying both schizophrenia and gating measures.

  16. Heritability of Tpeak-Tend Interval and T-wave Amplitude: A Twin Study

    DEFF Research Database (Denmark)

    Haarmark, Christian; Kyvik, Kirsten O; Vedel-Larsen, Esben;

    2011-01-01

    BACKGROUND: -Tpeak-Tend interval (TpTe) and T-wave amplitude (Tamp) carry diagnostic and prognostic information regarding cardiac morbidity and mortality. Heart rate and QT interval are known to be heritable traits. The heritability of T-wave morphology parameters such as TpTe and Tamp is unknown....... TpTe and Tamp were evaluated in a large sample of twins. METHODS AND RESULTS: -Twins from the GEMINAKAR study (611 pairs, 246 monozygotic, 365 dizygotic, aged 38±11 years, 49 % men) who had an ECG performed during 1997-2000 were included. Tamp was measured in leads V1 and V5. Duration variables (RR...... are heritable ECG parameters....

  17. Heritability and complex segregation analysis of hypoadrenocorticism in the standard poodle.

    Science.gov (United States)

    Famula, T R; Belanger, J M; Oberbauer, A M

    2003-01-01

    The heritability of hypoadrenocorticism (Addison's disease) was evaluated in 778 standard poodles with known Addisonian phenotypes. Addisonian status was confirmed clinically by adrenocorticotropic hormone (ACTH) challenge and 8.6 per cent of the poodles enrolled in the study were classified as being Addisonian. Hypoadrenocorticism affected both sexes with equal probability (P > 0.1). The most common coat colours had a negligible effect on the incidence of hypoadrenocorticism (P > 0.09), although red coat colour had a significant impact on the disease, probably due to the relatively small numbers of dogs with that coat colour. The heritability of hypoadrenocorticism in the standard poodle was estimated to be 0.75. Complex segregation analyses suggested that hypoadrenocorticism in the breed is influenced by an autosomal recessive locus. Clarification of both the heritability and mode of inheritance of hypoadrenocorticism in the standard poodle allows for better-informed breeding decisions.

  18. The Heritability of Prostate Cancer in the Nordic Twin Study of Cancer

    DEFF Research Database (Denmark)

    Hjelmborg, Jacob B; Scheike, Thomas; Holst, Klaus

    2014-01-01

    Background: Prostate cancer is thought to be the most heritable cancer, although little is known about how this genetic contribution varies across age. Methods: To address this question, we undertook the world's largest prospective study in the Nordic Twin Study of Cancer cohort, including 18......,680 monozygotic and 30,054 dizygotic same sex male twin pairs. We incorporated time-to-event analyses to estimate the risk concordance and heritability while accounting for censoring and competing risks of death, essential sources of biases that have not been accounted for in previous twin studies modeling cancer...... diagnoses was significantly shorter for MZ than DZ pairs (median 3.8 versus 6.5 years, respectively). Genetic differences contributed substantially to variation in both the risk and the liability (heritability=58% (95% CI 52%-63%) of developing prostate cancer. The relative contribution of genetic factors...

  19. Familial Risk and Heritability of Cancer Among Twins in Nordic Countries

    DEFF Research Database (Denmark)

    Mucci, Lorelei A; Hjelmborg, Jacob B; Harris, Jennifer R

    2016-01-01

    (proportion of variance in cancer risk due to interindividual genetic differences) with follow-up via cancer registries. Statistical models adjusted for age and follow-up time, and accounted for censoring and competing risk of death. RESULTS: A total of 27,156 incident cancers were diagnosed in 23...... with the cumulative risk in the overall cohort (32%). For most cancer types, there were significant familial risks and the cumulative risks were higher in monozygotic than dizygotic twins. Heritability of cancer overall was 33% (95% CI, 30%-37%). Significant heritability was observed for the cancer types of skin......IMPORTANCE: Estimates of familial cancer risk from population-based studies are essential components of cancer risk prediction. OBJECTIVE: To estimate familial risk and heritability of cancer types in a large twin cohort. DESIGN, SETTING, AND PARTICIPANTS: Prospective study of 80,309 monozygotic...

  20. Interpreting estimates of heritability--a note on the twin decomposition.

    Science.gov (United States)

    Stenberg, Anders

    2013-03-01

    While most outcomes may in part be genetically mediated, quantifying genetic heritability is a different matter. To explore data on twins and decompose the variation is a classical method to determine whether variation in outcomes, e.g. IQ or schooling, originate from genetic endowments or environmental factors. Despite some criticism, the model is still widely used. The critique is generally related to how estimates of heritability may encompass environmental mediation. This aspect is sometimes left implicit by authors even though its relevance for the interpretation is potentially profound. This short note is an appeal for clarity from authors when interpreting the magnitude of heritability estimates. It is demonstrated how disregarding existing theoretical contributions can easily lead to unnecessary misinterpretations and/or controversies. The key arguments are relevant also for estimates based on data of adopted children or from modern molecular genetics research. Copyright © 2012 Elsevier B.V. All rights reserved.

  1. Heritability maps of human face morphology through large-scale automated three-dimensional phenotyping

    Science.gov (United States)

    Tsagkrasoulis, Dimosthenis; Hysi, Pirro; Spector, Tim; Montana, Giovanni

    2017-04-01

    The human face is a complex trait under strong genetic control, as evidenced by the striking visual similarity between twins. Nevertheless, heritability estimates of facial traits have often been surprisingly low or difficult to replicate. Furthermore, the construction of facial phenotypes that correspond to naturally perceived facial features remains largely a mystery. We present here a large-scale heritability study of face geometry that aims to address these issues. High-resolution, three-dimensional facial models have been acquired on a cohort of 952 twins recruited from the TwinsUK registry, and processed through a novel landmarking workflow, GESSA (Geodesic Ensemble Surface Sampling Algorithm). The algorithm places thousands of landmarks throughout the facial surface and automatically establishes point-wise correspondence across faces. These landmarks enabled us to intuitively characterize facial geometry at a fine level of detail through curvature measurements, yielding accurate heritability maps of the human face (www.heritabilitymaps.info).

  2. Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

    DEFF Research Database (Denmark)

    Gusev, Alexander; Lee, S Hong; Trynka, Gosia

    2014-01-01

    Regulatory and coding variants are known to be enriched with associations identified by genome-wide association studies (GWASs) of complex disease, but their contributions to trait heritability are currently unknown. We applied variance-component methods to imputed genotype data for 11 common...... diseases to partition the heritability explained by genotyped SNPs (hg(2)) across functional categories (while accounting for shared variance due to linkage disequilibrium). Extensive simulations showed that in contrast to current estimates from GWAS summary statistics, the variance-component approach...... partitions heritability accurately under a wide range of complex-disease architectures. Across the 11 diseases DNaseI hypersensitivity sites (DHSs) from 217 cell types spanned 16% of imputed SNPs (and 24% of genotyped SNPs) but explained an average of 79% (SE = 8%) of hg(2) from imputed SNPs (5.1× enrichment...

  3. Heritability and correlation between selected phenotypical characters of soybean under the climatic conditions of Poland

    Directory of Open Access Journals (Sweden)

    Edward Warzecha

    2013-12-01

    Full Text Available The variability of characters connected with yield structure in soybean is much more influenced by environmental conditions than the genotype as indicated by heritability coefficients (h2, calculated on the basis of trials performed during several years under the climatic conditions of Poland. The length of the vegetation period, however, is determined predominantly by the genotype since high reproducibility of h2 values in different years was found. The heritability coefficients obtained for the agronomic characters of soybean grown in Poland were relatively similar to analogous data from the USA. Phenotypical correlations calculated for the whole group together with correlations between the length of the vegetation period and other characters calculated for individual varieties, provided information on the interrelationship between characters in soybean grown in Poland. This, together with calculated heritability coefficients could be useful for soybean breeding in Poland.

  4. Heritability of hemivertebrae in the French bulldog using an animal threshold model.

    Science.gov (United States)

    Schlensker, Eva; Distl, Ottmar

    2016-01-01

    Ordinal regression and animal threshold analyses were used to estimate the influence of fixed effects and heritabilities on the number and grade of hemivertebrae, as well as the number of coccygeal vertebrae, in 105 French bulldogs. The fixed effects of sex, year and month of birth were not significant (P > 0.05). The prevalence of hemivertebrae was 0.85 with a slightly higher prevalence in females compared with males. Heritability estimates for the number and grade of hemivertebrae were 0.58 and 0.53, respectively. The number of coccygeal vertebrae showed a heritability estimate of 0.35. In addition, the number of coccygeal vertebrae was negatively correlated with the number and grade of hemivertebrae. The prevalence of hemivertebrae could increase if dogs with shorter tails are preferentially selected for breeding purposes.

  5. The high heritability of educational achievement reflects many genetically influenced traits, not just intelligence.

    Science.gov (United States)

    Krapohl, Eva; Rimfeld, Kaili; Shakeshaft, Nicholas G; Trzaskowski, Maciej; McMillan, Andrew; Pingault, Jean-Baptiste; Asbury, Kathryn; Harlaar, Nicole; Kovas, Yulia; Dale, Philip S; Plomin, Robert

    2014-10-21

    Because educational achievement at the end of compulsory schooling represents a major tipping point in life, understanding its causes and correlates is important for individual children, their families, and society. Here we identify the general ingredients of educational achievement using a multivariate design that goes beyond intelligence to consider a wide range of predictors, such as self-efficacy, personality, and behavior problems, to assess their independent and joint contributions to educational achievement. We use a genetically sensitive design to address the question of why educational achievement is so highly heritable. We focus on the results of a United Kingdom-wide examination, the General Certificate of Secondary Education (GCSE), which is administered at the end of compulsory education at age 16. GCSE scores were obtained for 13,306 twins at age 16, whom we also assessed contemporaneously on 83 scales that were condensed to nine broad psychological domains, including intelligence, self-efficacy, personality, well-being, and behavior problems. The mean of GCSE core subjects (English, mathematics, science) is more heritable (62%) than the nine predictor domains (35-58%). Each of the domains correlates significantly with GCSE results, and these correlations are largely mediated genetically. The main finding is that, although intelligence accounts for more of the heritability of GCSE than any other single domain, the other domains collectively account for about as much GCSE heritability as intelligence. Together with intelligence, these domains account for 75% of the heritability of GCSE. We conclude that the high heritability of educational achievement reflects many genetically influenced traits, not just intelligence.

  6. Heritability of face shape in twins: a preliminary study using 3D stereophotogrammetry and geometric morphometrics

    Directory of Open Access Journals (Sweden)

    Seth M. Weinberg

    2013-11-01

    Full Text Available Introduction: Previous research suggests that aspects of facial surface morphology are heritable.  Traditionally, heritability studies have used a limited set of linear distances to quantify facial morphology and often employ statistical methods poorly designed to deal with biological shape.  In this preliminary report, we use a combination of 3D photogrammetry and landmark-based morphometrics to explore which aspects of face shape show the strongest evidence of heritability in a sample of twins. Methods: 3D surface images were obtained from 21 twin pairs (10 monozygotic, 11 same-sex dizygotic.  Thirteen 3D landmarks were collected from each facial surface and their coordinates subjected to geometric morphometric analysis.  This involved superimposing the individual landmark configurations and then subjecting the resulting shape coordinates to a principal components analysis.  The resulting PC scores were then used to calculate rough narrow-sense heritability estimates. Results: Three principal components displayed evidence of moderate to high heritability and were associated with variation in the breadth of orbital and nasal structures, upper lip height and projection, and the vertical and forward projection of the root of the nose due to variation in the position of nasion. Conclusions: Aspects of facial shape, primarily related to variation in length and breadth of central midfacial structures, were shown to demonstrate evidence of strong heritability. An improved understanding of which facial features are under strong genetic control is an important step in the identification of specific genes that underlie normal facial variation.

  7. Degree of inheritance and heritability of yield in parental genotypes and F1 hybrids of tobacco

    Directory of Open Access Journals (Sweden)

    Aleksoski Jane A.

    2011-01-01

    Full Text Available The mode and level of inheritance of green and dry mass yield per stalk were investigated in four parental genotypes (Burley - B 2/93, Suchum - S1, Suchum - S2 and Prilep - P-84 and in their six diallel F1 hybrids. The trial was set up in 2007, 2008 and 2009 in the field of Tobacco Institute-Prilep in a randomized block design with four replications. The aim of the investigation was to estimate the heritability as an indicator of the inheritance of the yield as one of the most important quantitative characters of tobacco, in order to give suggestions for the selection of parental genotypes and directions for the creation of new varieties. The mode of inheritance was estimated according to the test - significance of the mean value of F1 progeny compared to the parental average. Narrow-sense heritability was estimated after Allard (1960, while broad-sense heritability and genetic components were estimated after Mather and Jinks (1974. The mode of inheritance in the hybrids was different. Positive heterosis for green and dry mass yields per stalk was recorded in S1 x S2. Negative heterosis for green mass yields per stalk was recorded in S1 x P-84 and S2 x P-84, while for dry mass yield it was recorded in S1 x P-84. Inheritance of the characters during the three years of investigation was identical. The higher heritability index of both types was recorded for dry mass yield. As regards inheritance of the yield, the values of broad-sense heritability were higher than those of narrow-sense heritability.

  8. Clinical Analysis of 22 Cases of Diabetes and Hyperlipidemic Pancreatitis%糖尿病并高脂血症性胰腺炎22例临床分析

    Institute of Scientific and Technical Information of China (English)

    丘英祥

    2014-01-01

    Objective To analyze the patients with diabetes complicated by hyperlipidemic pancreatitis clinically. Methods 22 cases of patients with diabetes complicated by hyperlipidemic pancreatitis admitted in our hospital from September, 2013 to February, 2014 were selected as the subjects of this study and they were analyzed retrospectively, the clinical characteristics, pre_vention and treatment experience of diabetes complicated by hyperlipidemic pancreatitis were summarized. Results After scientific treatment, all the 22 patients in this study recovered and discharged with no case of death eventually. Conclusion Controlling the blood sugar of the patients with diabetes and comprehensive treatment of a variety of means can improve the prognosis and reduce the incidence of hyperlipidemic pancreatitis.%目的:探讨对糖尿病合并高脂血症性胰腺炎患者进行临床分析。方法此次临床研究主要以该院在2013年1月—2014年2月收治的22例糖尿病合并高脂血症性胰腺炎患者为对象,对所有研究对象进行回顾性分析,总结糖尿病合并高脂血症性胰腺炎临床发病的特点以及预防和治疗经验。结果该研究的22例患者经过科学的治疗,最终无一例死亡,全部痊愈出院。结论控制糖尿病患者血糖并采取多种手段的综合治疗,改善预后,减少高脂血症性胰腺炎的发生率。

  9. 妊娠反复合并高脂血症性急性胰腺炎一例%Acute Hyperlipidemic Pancreatitis in Pregnancy:A Case Report HAN

    Institute of Scientific and Technical Information of China (English)

    韩红梅; 朴风顺; 朴熙绪

    2012-01-01

    妊娠合并急性胰腺炎是妊娠期严重的并发症,其中高脂血症性胰腺炎近年来在妊娠合并急性胰腺炎病因中所占比率逐年增加,而且妊娠合并高脂血症性胰腺炎为重症胰腺炎的主要原因,多见于妊娠中晚期,易反复发作,病情凶险,孕产妇病死率及围生儿病死率达20%~50%,严重威胁着孕产妇的身体健康,也殃及胎儿的生命安全.本文报道了一例妊娠期反复合并高脂血症性急性胰腺炎病例的诊断及治疗过程.%Acute pancreatitis is a serious complication of pregnancy. In recent years, the percentage of acute pancrea-titis caused by hyperlipidemic pancreatitis is seeing an increase , and hyperlipidemic pancreatitis is also responsible for severe pancreatitis. Hyperlipidemic pancreatitis is commonly seen in the second and third trimester , and is likely to repeat with dangerous conditions. The maternal mortality and perinatal child mortality can be 20% to 50% , seriously threatening maternal health and the fetal lives. This paper reports a case with recurrent acute hyperlipidemic pancreatitis in pregnancy and treatment.

  10. Heritability of high reading ability and its interaction with parental education.

    Science.gov (United States)

    Friend, Angela; DeFries, John C; Olson, Richard K; Pennington, Bruce; Harlaar, Nicole; Byrne, Brian; Samuelsson, Stefan; Willcutt, Erik G; Wadsworth, Sally J; Corley, Robin; Keenan, Janice M

    2009-07-01

    Moderation of the level of genetic influence on children's high reading ability by environmental influences associated with parental education was explored in two independent samples of identical and fraternal twins from the United States and Great Britain. For both samples, the heritability of high reading performance increased significantly with lower levels of parental education. Thus, resilience (high reading ability despite lower environmental support) is more strongly influenced by genotype than is high reading ability with higher environmental support. This result provides a coherent account when considered alongside results of previous research showing that heritability for low reading ability decreased with lower levels of parental education.

  11. The heritability of G2 chromosomal radiosensitivity and its association with cancer in Danish cancer survivors and their offspring

    DEFF Research Database (Denmark)

    Curwen, Gillian B; Cadwell, Kevin K; Winther, Jeanette Falck;

    2010-01-01

    To investigate the relationship between chromosomal radiosensitivity and early-onset cancer under the age of 35 years and to examine the heritability of chromosomal radiosensitivity.......To investigate the relationship between chromosomal radiosensitivity and early-onset cancer under the age of 35 years and to examine the heritability of chromosomal radiosensitivity....

  12. Antihyperlipidemic Activity of Quercetin from Allium cepa L.var.Agrogatum Don on Serum Lipids Index of Hyperlipidemic Mouse%分蘖葱头槲皮素对高血脂小鼠血脂影响

    Institute of Scientific and Technical Information of China (English)

    刘超

    2015-01-01

    从分蘖葱头中提取制备槲皮素,研究其对高脂饲料喂养昆明小鼠建立高血脂模型的影响.利用试剂盒测定小鼠体重、脏器系数、血清中血清甘油三酯(Triglyceride,TG)、总胆固醇(Total Cholesterol,TC)、低密度脂蛋白胆固醇(Low Density Lipoprotein Cholesterol,LDL-C)、高密度脂蛋白胆固醇(High Density Lipoprotein Cholesterol,HDL-C)指数,计算动脉硬化指数(Arteriosclerosis Index,AI).结果表明:与高脂阴性对照组相比,连续50 d灌胃分蘖葱头槲皮素能够有效控制高血脂小鼠体重,对主要脏器没有实质性伤害,且可以显著降低高脂血症小鼠的血清TC、TG、LDL-C水平和AI值,明显升高血清HDL-C水平,具有一定的降血脂作用,能调节高脂血症小鼠的血脂水平,防止动脉粥样硬化症(Atherosclerosis,AS)的形成.综上所述,分蘖葱头槲皮苷能够预防和防治动脉粥样硬化症,有效降低高血脂的发病率,可以作为一种降血脂资源进行有效开发.%The anti-hyperlipidemic activity of Allium cepa L.var.Agrogatum Don quercetins (ACDA-Q) in hyperlipidemic mouse induced by high fat diet was studied.The efficacy was determined by rats serum lipids indexes including weights,organ coefficients,triglycerides (TG),total cholesterol (TC),low density lipoprotein cholesterol(LDL-C),high density lipoprotein cholesterol(HDL-C) and arteriosclerosis Index (AI).The hyperlipidemic mouse showed significant decrease in TC,TG,LDL-C and AI value and increase HDL-C level by 50 days successive administration with Allium cepa L.var.Agrogatum Don quercetins (ACDA-Q).ACDA-Q also showed controlling of weights and no damage of main organs.The anti-hyperlipidemic effect mediated by ACDA-Q may also be anticipated to have biological significant and prevent atherosclerosis as an anti-hyperlipidemic medicine.

  13. Natural epigenetic variation contributes to heritable flowering divergence in a widespread asexual dandelion lineage.

    Science.gov (United States)

    Wilschut, Rutger A; Oplaat, Carla; Snoek, L Basten; Kirschner, Jan; Verhoeven, Koen J F

    2016-04-01

    Epigenetic variation has been proposed to contribute to the success of asexual plants, either as a contributor to phenotypic plasticity or by enabling transient adaptation via selection on transgenerationally stable, but reversible, epialleles. While recent studies in experimental plant populations have shown the potential for epigenetic mechanisms to contribute to adaptive phenotypes, it remains unknown whether heritable variation in ecologically relevant traits is at least partially epigenetically determined in natural populations. Here, we tested the hypothesis that DNA methylation variation contributes to heritable differences in flowering time within a single widespread apomictic clonal lineage of the common dandelion (Taraxacum officinale s. lat.). Apomictic clone members of the same apomictic lineage collected from different field sites showed heritable differences in flowering time, which was correlated with inherited differences in methylation-sensitive AFLP marker profiles. Differences in flowering between apomictic clone members were significantly reduced after in vivo demethylation using the DNA methyltransferase inhibitor zebularine. This synchronization of flowering times suggests that flowering time divergence within an apomictic lineage was mediated by differences in DNA methylation. While the underlying basis of the methylation polymorphism at functional flowering time-affecting loci remains to be demonstrated, our study shows that epigenetic variation contributes to heritable phenotypic divergence in ecologically relevant traits in natural plant populations. This result also suggests that epigenetic mechanisms can facilitate adaptive divergence within genetically uniform asexual lineages. © 2015 John Wiley & Sons Ltd.

  14. A review and meta-analysis of the heritability of specific phobia subtypes and corresponding fears.

    Science.gov (United States)

    Van Houtem, C M H H; Laine, M L; Boomsma, D I; Ligthart, L; van Wijk, A J; De Jongh, A

    2013-05-01

    Evidence from twin studies suggests that genetic factors contribute to the risk of developing a fear or a phobia. The aim of the present study was to review the current literature regarding twin studies describing the genetic basis of specific phobias and their corresponding fears. The analysis included five twin studies on fears and ten twin studies on specific phobias. Heritability estimates of fear subtypes and specific phobia subtypes both varied widely, even within the subtypes. A meta-analysis performed on the twin study results indicated that fears and specific phobias are moderately heritable. The highest mean heritability (±SEM) among fear subtypes was found for animal fear (45%±0.004), and among specific phobias for the blood-injury-injection phobia (33%±0.06). For most phenotypes, variance could be explained solely by additive genetic and unique environmental effects. Given the dearth of independent data on the heritability of specific phobias and fears, additional research is needed. Copyright © 2013 Elsevier Ltd. All rights reserved.

  15. Sex differences and heritability of two indices of heart rate dynamics : A twin study

    NARCIS (Netherlands)

    Snieder, Harold; van Doornen, Lorenz J. P.; Boomsma, Dorret I.; Thayer, Julian F.

    2007-01-01

    We investigated whether women show larger heart rate variability (HRV) than men after controlling for a large number of health-related covariates, using two indices of HRV, namely respiratory sinus arrhythmia (RSA) and approximate entropy (ApEn). In a twin design, the heritability of both indices wa

  16. Prevalence, concordance, and heritability of Scheuermann kyphosis based on a study of twins

    DEFF Research Database (Denmark)

    Damborg, Frank; Engell, Vilhelm; Andersen, Mikkel;

    2006-01-01

    BACKGROUND: The purpose of this study was to establish a cohort of symptomatic twins with Scheuermann kyphosis to provide estimates of prevalence, concordance, odds ratio, and heritability. These estimates indicate to what extent genetic factors contribute to the etiology of this disease. METHODS...

  17. Revertant Mosaicism in Heritable Skin Diseases - Mechanisms of Natural Gene Therapy

    NARCIS (Netherlands)

    Pasmooij, Anna M. G.; Jonkman, Marcel F.; Uitto, Jouni

    Revertant mosaicism (RM) refers to the co-existence of cells carrying disease-causing mutations with cells in which the inherited mutation is genetically corrected by a spontaneous event. It has been discovered in an increasing number of heritable skin diseases: ichthyosis with confetti and

  18. Repeatability and heritability of exploratory behaviour in great tits from the wild

    NARCIS (Netherlands)

    Dingemanse, NJ; Both, C; Drent, PJ; Van Oers, K; Van Noordwijk, AJ; Drent, Piet J.; Noordwijk, Arie J. van

    2002-01-01

    We investigated whether individual great tits, Parus major, vary consistently in their exploratory behaviour in a novel environment and measured the repeatability and heritability of this trait. Wild birds were caught in their natural habitat, tested in the laboratory in an open field test on the fo

  19. 75 FR 2554 - Advisory Committee on Heritable Disorders in Newborns and Children

    Science.gov (United States)

    2010-01-15

    ... should have expertise in dealing with heritable disorders and genetic diseases that affect the racial and ethnic and geographical diversity of newborns served by the State newborn screening programs. The... be impaired. Appointments shall be made without discrimination on the basis of age, ethnicity,...

  20. Heritability of insulin sensitivity and lipid profile depend on BMI : evidence for gene-obesity interaction

    NARCIS (Netherlands)

    Wang, X.; Ding, X.; Su, S.; Spector, T. D.; Mangino, M.; Iliadou, A.; Snieder, H.

    2009-01-01

    Evidence from candidate gene studies suggests that obesity may modify genetic susceptibility to type 2 diabetes and dyslipidaemia. On an aggregate level, gene-obesity interactions are expected to result in different heritability estimates at different obesity levels. However, this hypothesis has nev

  1. Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

    Science.gov (United States)

    Gusev, Alexander; Lee, S. Hong; Trynka, Gosia; Finucane, Hilary; Vilhjálmsson, Bjarni J.; Xu, Han; Zang, Chongzhi; Ripke, Stephan; Bulik-Sullivan, Brendan; Stahl, Eli; Ripke, Stephan; Neale, Benjamin M.; Corvin, Aiden; Walters, James T.R.; Farh, Kai-How; Holmans, Peter A.; Lee, Phil; Bulik-Sullivan, Brendan; Collier, David A.; Huang, Hailiang; Pers, Tune H.; Agartz, Ingrid; Agerbo, Esben; Albus, Margot; Alexander, Madeline; Amin, Farooq; Bacanu, Silviu A.; Begemann, Martin; Belliveau, Richard A.; Bene, Judit; Bergen, Sarah E.; Bevilacqua, Elizabeth; Bigdeli, Tim B.; Black, Donald W.; Børglum, Anders D.; Bruggeman, Richard; Buccola, Nancy G.; Buckner, Randy L.; Byerley, William; Cahn, Wiepke; Cai, Guiqing; Campion, Dominique; Cantor, Rita M.; Carr, Vaughan J.; Carrera, Noa; Catts, Stanley V.; Chambert, Kimberly D.; Chan, Raymond C.K.; Chen, Ronald Y.L.; Chen, Eric Y.H.; Cheng, Wei; Cheung, Eric F.C.; Chong, Siow Ann; Cloninger, C. Robert; Cohen, David; Cohen, Nadine; Cormican, Paul; Craddock, Nick; Crowley, James J.; Curtis, David; Davidson, Michael; Davis, Kenneth L.; Degenhardt, Franziska; Del Favero, Jurgen; DeLisi, Lynn E.; Demontis, Ditte; Dikeos, Dimitris; Dinan, Timothy; Djurovic, Srdjan; Donohoe, Gary; Drapeau, Elodie; Duan, Jubao; Dudbridge, Frank; Durmishi, Naser; Eichhammer, Peter; Eriksson, Johan; Escott-Price, Valentina; Essioux, Laurent; Fanous, Ayman H.; Farrell, Martilias S.; Frank, Josef; Franke, Lude; Freedman, Robert; Freimer, Nelson B.; Friedl, Marion; Friedman, Joseph I.; Fromer, Menachem; Genovese, Giulio; Georgieva, Lyudmila; Gershon, Elliot S.; Giegling, Ina; Giusti-Rodrguez, Paola; Godard, Stephanie; Goldstein, Jacqueline I.; Golimbet, Vera; Gopal, Srihari; Gratten, Jacob; Grove, Jakob; de Haan, Lieuwe; Hammer, Christian; Hamshere, Marian L.; Hansen, Mark; Hansen, Thomas; Haroutunian, Vahram; Hartmann, Annette M.; Henskens, Frans A.; Herms, Stefan; Hirschhorn, Joel N.; Hoffmann, Per; Hofman, Andrea; Hollegaard, Mads V.; Hougaard, David M.; Ikeda, Masashi; Joa, Inge; Julià, Antonio; Kahn, René S.; Kalaydjieva, Luba; Karachanak-Yankova, Sena; Karjalainen, Juha; Kavanagh, David; Keller, Matthew C.; Kelly, Brian J.; Kennedy, James L.; Khrunin, Andrey; Kim, Yunjung; Klovins, Janis; Knowles, James A.; Konte, Bettina; Kucinskas, Vaidutis; Kucinskiene, Zita Ausrele; Kuzelova-Ptackova, Hana; Kähler, Anna K.; Laurent, Claudine; Keong, Jimmy Lee Chee; Lee, S. Hong; Legge, Sophie E.; Lerer, Bernard; Li, Miaoxin; Li, Tao; Liang, Kung-Yee; Lieberman, Jeffrey; Limborska, Svetlana; Loughland, Carmel M.; Lubinski, Jan; Lnnqvist, Jouko; Macek, Milan; Magnusson, Patrik K.E.; Maher, Brion S.; Maier, Wolfgang; Mallet, Jacques; Marsal, Sara; Mattheisen, Manuel; Mattingsdal, Morten; McCarley, Robert W.; McDonald, Colm; McIntosh, Andrew M.; Meier, Sandra; Meijer, Carin J.; Melegh, Bela; Melle, Ingrid; Mesholam-Gately, Raquelle I.; Metspalu, Andres; Michie, Patricia T.; Milani, Lili; Milanova, Vihra; Mokrab, Younes; Morris, Derek W.; Mors, Ole; Mortensen, Preben B.; Murphy, Kieran C.; Murray, Robin M.; Myin-Germeys, Inez; Mller-Myhsok, Bertram; Nelis, Mari; Nenadic, Igor; Nertney, Deborah A.; Nestadt, Gerald; Nicodemus, Kristin K.; Nikitina-Zake, Liene; Nisenbaum, Laura; Nordin, Annelie; O’Callaghan, Eadbhard; O’Dushlaine, Colm; O’Neill, F. Anthony; Oh, Sang-Yun; Olincy, Ann; Olsen, Line; Van Os, Jim; Pantelis, Christos; Papadimitriou, George N.; Papiol, Sergi; Parkhomenko, Elena; Pato, Michele T.; Paunio, Tiina; Pejovic-Milovancevic, Milica; Perkins, Diana O.; Pietilinen, Olli; Pimm, Jonathan; Pocklington, Andrew J.; Powell, John; Price, Alkes; Pulver, Ann E.; Purcell, Shaun M.; Quested, Digby; Rasmussen, Henrik B.; Reichenberg, Abraham; Reimers, Mark A.; Richards, Alexander L.; Roffman, Joshua L.; Roussos, Panos; Ruderfer, Douglas M.; Salomaa, Veikko; Sanders, Alan R.; Schall, Ulrich; Schubert, Christian R.; Schulze, Thomas G.; Schwab, Sibylle G.; Scolnick, Edward M.; Scott, Rodney J.; Seidman, Larry J.; Shi, Jianxin; Sigurdsson, Engilbert; Silagadze, Teimuraz; Silverman, Jeremy M.; Sim, Kang; Slominsky, Petr; Smoller, Jordan W.; So, Hon-Cheong; Spencer, Chris C.A.; Stahl, Eli A.; Stefansson, Hreinn; Steinberg, Stacy; Stogmann, Elisabeth; Straub, Richard E.; Strengman, Eric; Strohmaier, Jana; Stroup, T. Scott; Subramaniam, Mythily; Suvisaari, Jaana; Svrakic, Dragan M.; Szatkiewicz, Jin P.; Sderman, Erik; Thirumalai, Srinivas; Toncheva, Draga; Tooney, Paul A.; Tosato, Sarah; Veijola, Juha

    2014-01-01

    Regulatory and coding variants are known to be enriched with associations identified by genome-wide association studies (GWASs) of complex disease, but their contributions to trait heritability are currently unknown. We applied variance-component methods to imputed genotype data for 11 common diseases to partition the heritability explained by genotyped SNPs (hg2) across functional categories (while accounting for shared variance due to linkage disequilibrium). Extensive simulations showed that in contrast to current estimates from GWAS summary statistics, the variance-component approach partitions heritability accurately under a wide range of complex-disease architectures. Across the 11 diseases DNaseI hypersensitivity sites (DHSs) from 217 cell types spanned 16% of imputed SNPs (and 24% of genotyped SNPs) but explained an average of 79% (SE = 8%) of hg2 from imputed SNPs (5.1× enrichment; p = 3.7 × 10−17) and 38% (SE = 4%) of hg2 from genotyped SNPs (1.6× enrichment, p = 1.0 × 10−4). Further enrichment was observed at enhancer DHSs and cell-type-specific DHSs. In contrast, coding variants, which span 1% of the genome, explained <10% of hg2 despite having the highest enrichment. We replicated these findings but found no significant contribution from rare coding variants in independent schizophrenia cohorts genotyped on GWAS and exome chips. Our results highlight the value of analyzing components of heritability to unravel the functional architecture of common disease. PMID:25439723

  2. 78 FR 23770 - Establishment of the Discretionary Advisory Committee on Heritable Disorders in Newborns and...

    Science.gov (United States)

    2013-04-22

    ... authorizing directive and guidelines under the Federal Advisory Committee Act (FACA), a charter will be filed... state and local health agencies to provide for newborn and child screening, counseling and health care..., counseling, testing, or specialty services for newborns and children at risk for heritable disorders;...

  3. P300 event-related potential heritability in monozygotic and dizygotic twins.

    Science.gov (United States)

    Katsanis, J; Iacono, W G; McGue, M K; Carlson, S R

    1997-01-01

    The present study examined the heritability of the P3 waveform and the N1, P2, and N2 components by assessing the visual event-related potential (ERP) of 30 monozygotic (MZ) and 34 dizygotic (DZ) twin pairs. Electroencephalogram activity was recorded from Pz, P3, and P4 scalp sites while individuals performed a reaction time task involving two conditions differing in difficulty. Genetic modeling indicated substantial genetic influence on P3 amplitude, P3 latency, and manual reaction time for the difficult condition. No significant heritability was found for the latency of P3 or manual reaction time for the easy condition, but P3 amplitude was heritable for this condition. The amplitude of the early components (N1, P2, and N2) was heritable, but no significant genetic influences were found for the latency of these components. Compared with the DZ twins, the greater similarity of the MZ pairs on the event-related potential measures was not due to their greater similarity in either head dimensions or mental ability, despite the facts that IQ scores were weakly correlated with P3 and N2 amplitude and that amplitude and latency were related to some measures of head size. These findings suggest that P3 amplitude and the amplitude of earlier ERP components are under partial genetic control, supporting the notion that these ERP components could perhaps be used to identify genetic risk for psychopathology.

  4. Transcriptional infidelity promotes heritable phenotypic change in a bistable gene network.

    Directory of Open Access Journals (Sweden)

    Alasdair J E Gordon

    2009-02-01

    Full Text Available Bistable epigenetic switches are fundamental for cell fate determination in unicellular and multicellular organisms. Regulatory proteins associated with bistable switches are often present in low numbers and subject to molecular noise. It is becoming clear that noise in gene expression can influence cell fate. Although the origins and consequences of noise have been studied, the stochastic and transient nature of RNA errors during transcription has not been considered in the origin or modeling of noise nor has the capacity for such transient errors in information transfer to generate heritable phenotypic change been discussed. We used a classic bistable memory module to monitor and capture transient RNA errors: the lac operon of Escherichia coli comprises an autocatalytic positive feedback loop producing a heritable all-or-none epigenetic switch that is sensitive to molecular noise. Using single-cell analysis, we show that the frequency of epigenetic switching from one expression state to the other is increased when the fidelity of RNA transcription is decreased due to error-prone RNA polymerases or to the absence of auxiliary RNA fidelity factors GreA and GreB (functional analogues of eukaryotic TFIIS. Therefore, transcription infidelity contributes to molecular noise and can effect heritable phenotypic change in genetically identical cells in the same environment. Whereas DNA errors allow genetic space to be explored, RNA errors may allow epigenetic or expression space to be sampled. Thus, RNA infidelity should also be considered in the heritable origin of altered or aberrant cell behaviour.

  5. Diet, lifestyle, heritable factors and colorectal carcinogenesis: associations with histopathological and molecular endpoints

    NARCIS (Netherlands)

    Wark, P.A.

    2007-01-01

    Background: Diet, lifestyle and heritable factors have been related to colorectal cancer risk; to date, their relevance to the overall scope of colorectal carcinogenesis, has not been clearly established.Aim and Methods: To evaluate whether distinguishing colorectal tissue by its histopathological a

  6. Heritability of Antisocial Behaviour at 9: Do Callous-Unemotional Traits Matter?

    Science.gov (United States)

    Viding, Essi; Jones, Alice P.; Paul, J. Frick; Moffitt, Terrie E.; Plomin, Robert

    2008-01-01

    A previous finding from our group indicated that teacher-rated antisocial behaviour (AB) among 7-year-olds is particularly heritable in the presence of callous-unemotional (CU) traits. Using a sample of 1865 same-sex twin pairs, we employed DeFries-Fulker extremes analysis to investigate whether teacher-rated AB with/without CU traits also shows…

  7. DNA evidence for strong genetic stability and increasing heritability of intelligence from age 7 to 12.

    Science.gov (United States)

    Trzaskowski, M; Yang, J; Visscher, P M; Plomin, R

    2014-03-01

    Two genetic findings from twin research have far-reaching implications for understanding individual differences in the development of brain function as indexed by general cognitive ability (g, aka intelligence): (1) The same genes affect g throughout development, even though (2) heritability increases. It is now possible to test these hypotheses using DNA alone. From 1.7 million DNA markers and g scores at ages 7 and 12 on 2875 children, the DNA genetic correlation from age 7 to 12 was 0.73, highly similar to the genetic correlation of 0.75 estimated from 6702 pairs of twins from the same sample. DNA-estimated heritabilities increased from 0.26 at age 7 to 0.45 at age 12; twin-estimated heritabilities also increased from 0.35 to 0.48. These DNA results confirm the results of twin studies indicating strong genetic stability but increasing heritability for g, despite mean changes in brain structure and function from childhood to adolescence.

  8. Sudden unexplained death: Heritability and diagnostic yield of cardiological and genetic examination in surviving relatives

    NARCIS (Netherlands)

    Tan, Hanno L.; Hofman, Nynke; Van Langen, Irene M.; Van Der Wal, Allard C.; Wilde, Arthur A. M.

    2005-01-01

    Background-Sudden death mostly follows from cardiac disorders that elicit lethal ventricular arrhythmias. In young individuals, it often remains unexplained because history and/or postmortem analysis are absent or provide no clue. Because such sudden unexplained deaths (SUDs) may have heritable caus

  9. 78 FR 25447 - Establishment of the Discretionary Advisory Committee on Heritable Disorders in Newborns and...

    Science.gov (United States)

    2013-05-01

    ... for Healthcare Research and Quality; and the Commissioner of the Food and Drug Administration--or... ethics and heritable disorders who have worked and published material in the area of public health and..., email, telephone number, professional or business affiliation, type of expertise (i.e.,...

  10. Shared genetic variance between the features of the metabolic syndrome: Heritability studies

    NARCIS (Netherlands)

    Povel, C.M.; Boer, J.M.A.; Feskens, E.J.M.

    2011-01-01

    Heritability estimates of MetS range from approximately 10%–30%. The genetic variation that is shared among MetS features can be calculated by genetic correlation coefficients. The objective of this paper is to identify MetS feature as well as MetS related features which have much genetic variation

  11. Heritability of preferences for multiple cues of mate quality in humans.

    Science.gov (United States)

    Zietsch, Brendan P; Verweij, Karin J H; Burri, Andrea V

    2012-06-01

    Human mate preferences have received a great deal of attention in recent decades because of their centrality to sexual selection, which is thought to play a substantial role in human evolution. Most of this attention has been on universal aspects of mate preferences, but variation between individuals is less understood. In particular, the relative contribution of genetic and environmental influences to variation in mate preferences is key to sexual selection models but has barely been investigated in humans, and results have been mixed in other species. Here, we used data from over 4000 mostly female twins who ranked the importance of 13 key traits in a potential partner. We used the classical twin design to partition variation in these preferences into that due to genes, family environment, and residual factors. In women, there was significant variability in the broad-sense heritability of individual trait preferences, with physical attractiveness the most heritable (29%) and housekeeping ability the least (5%). Over all the trait preferences combined, broad-sense heritabilities were highly significant in women and marginally significant in men, accounting for 20% and 19% of the variation, respectively; family environmental influences were much smaller. Heritability was a little higher in reproductive aged than in nonreproductive aged women, but the difference was not significant. © 2012 The Author(s). Evolution © 2012 The Society for the Study of Evolution.

  12. Social disinhibition is a heritable subphenotype of tics in Tourette syndrome.

    Science.gov (United States)

    Hirschtritt, Matthew E; Darrow, Sabrina M; Illmann, Cornelia; Osiecki, Lisa; Grados, Marco; Sandor, Paul; Dion, Yves; King, Robert A; Pauls, David L; Budman, Cathy L; Cath, Danielle C; Greenberg, Erica; Lyon, Gholson J; Yu, Dongmei; McGrath, Lauren M; McMahon, William M; Lee, Paul C; Delucchi, Kevin L; Scharf, Jeremiah M; Mathews, Carol A

    2016-08-02

    To identify heritable symptom-based subtypes of Tourette syndrome (TS). Forty-nine motor and phonic tics were examined in 3,494 individuals (1,191 TS probands and 2,303 first-degree relatives). Item-level exploratory factor and latent class analyses (LCA) were used to identify tic-based subtypes. Heritabilities of the subtypes were estimated, and associations with clinical characteristics were examined. A 6-factor exploratory factor analysis model provided the best fit, which paralleled the somatotopic representation of the basal ganglia, distinguished simple from complex tics, and separated out socially disinhibited and compulsive tics. The 5-class LCA model best distinguished among the following groups: unaffected, simple tics, intermediate tics without social disinhibition, intermediate with social disinhibition, and high rates of all tic types. Across models, a phenotype characterized by high rates of social disinhibition emerged. This phenotype was associated with increased odds of comorbid psychiatric disorders, in particular, obsessive-compulsive disorder and attention-deficit/hyperactivity disorder, earlier age at TS onset, and increased tic severity. The heritability estimate for this phenotype based on the LCA was 0.53 (SE 0.08, p 1.7 × 10(-18)). Expanding on previous modeling approaches, a series of TS-related phenotypes, including one characterized by high rates of social disinhibition, were identified. These phenotypes were highly heritable and may reflect underlying biological networks more accurately than traditional diagnoses, thus potentially aiding future genetic, imaging, and treatment studies. © 2016 American Academy of Neurology.

  13. A multicenter study to map genes for Fuchs endothelial corneal dystrophy: baseline characteristics and heritability.

    Science.gov (United States)

    Louttit, Megan D; Kopplin, Laura J; Igo, Robert P; Fondran, Jeremy R; Tagliaferri, Angela; Bardenstein, David; Aldave, Anthony J; Croasdale, Christopher R; Price, Marianne O; Rosenwasser, George O; Lass, Jonathan H; Iyengar, Sudha K

    2012-01-01

    To describe the methods for family and case-control recruitment for a multicenter genetic and associated heritability analyses of Fuchs endothelial corneal dystrophy (FECD). Twenty-nine enrolling sites with 62 trained investigators and coordinators gathered individual and family information, graded the phenotype, and collected blood and/or saliva for genetic analysis on all individuals with and without FECD. The degree of FECD was assessed in a 0 to 6 semiquantitative scale using standardized clinical methods with pathological verification of FECD on at least 1 member of each family. Central corneal thickness was measured by ultrasonic pachymetry. Three hundred twenty-two families with 330 affected sibling pairs with FECD were enrolled and included a total of 650 sibling pairs of all disease grades. Using the entire 7-step FECD grading scale or a dichotomous definition of severe disease, heritability was assessed in families via sib-sib correlations. Both binary indicators of severe disease and semiquantitative measures of disease severity were significantly heritable, with heritability estimates of 30% for severe disease, 37% to 39% for FECD score, and 47% for central corneal thickness. Genetic risk factors have a strong role in the severity of the FECD phenotype and corneal thickness. Genotyping this cohort with high-density genetic markers followed by appropriate statistical analyses should lead to novel loci for disease susceptibility.

  14. Heritability of performance deficit accumulation during acute sleep deprivation in twins.

    Science.gov (United States)

    Kuna, Samuel T; Maislin, Greg; Pack, Frances M; Staley, Bethany; Hachadoorian, Robert; Coccaro, Emil F; Pack, Allan I

    2012-09-01

    To determine if the large and highly reproducible interindividual differences in rates of performance deficit accumulation during sleep deprivation, as determined by the number of lapses on a sustained reaction time test, the Psychomotor Vigilance Task (PVT), arise from a heritable trait. Prospective, observational cohort study. Academic medical center. There were 59 monozygotic (mean age 29.2 ± 6.8 [SD] yr; 15 male and 44 female pairs) and 41 dizygotic (mean age 26.6 ± 7.6 yr; 15 male and 26 female pairs) same-sex twin pairs with a normal polysomnogram. Thirty-eight hr of monitored, continuous sleep deprivation. Patients performed the 10-min PVT every 2 hr during the sleep deprivation protocol. The primary outcome was change from baseline in square root transformed total lapses (response time ≥ 500 ms) per trial. Patient-specific linear rates of performance deficit accumulation were separated from circadian effects using multiple linear regression. Using the classic approach to assess heritability, the intraclass correlation coefficients for accumulating deficits resulted in a broad sense heritability (h(2)) estimate of 0.834. The mean within-pair and among-pair heritability estimates determined by analysis of variance-based methods was 0.715. When variance components of mixed-effect multilevel models were estimated by maximum likelihood estimation and used to determine the proportions of phenotypic variance explained by genetic and nongenetic factors, 51.1% (standard error = 8.4%, P sleep deprivation.

  15. Heritability of head size in dutch and Australian twin families at ages 0-50 years.

    NARCIS (Netherlands)

    Smit, D.J.; Luciano, M.; Bartels, M.; Beijsterveldt, C.E. van; Wright, M.J.; Hansell, N.K.; Brunner, H.G.; Estourgie-van Burk, G.F.; Geus, E.J. de; Martin, N.G.; Boomsma, D.I.

    2010-01-01

    We assessed the heritability of head circumference, an approximation of brain size, in twin-sib families of different ages. Data from the youngest participants were collected a few weeks after birth and from the oldest participants around age 50 years. In nearly all age groups the largest part of th

  16. [Heritability analysis on serum lipids of adult twins in Qingdao City

    DEFF Research Database (Denmark)

    Lan, Jinfeng; Pang, Zengchang; Wang, Shaojie

    2010-01-01

    OBJECTIVE: To study the level and heritability of serum total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C) and triglycerides (TG) in adult twins sampled from Qingdao City of China. METHODS: 316 pairs of healthy twin aged 18 to 60 years...

  17. Cytochrome P450 gene CYP337 and heritability of fitness traits in the Glanville fritillary butterfly.

    Science.gov (United States)

    de Jong, M A; Wong, S C; Lehtonen, R; Hanski, I

    2014-04-01

    Fitness-related life history traits often show substantial heritable genetic variation in natural populations, but knowledge of the genetic architecture of these traits is limited. In the Glanville fritillary butterfly, we measured the heritability of key life history traits in a large outdoor population cage during 2 years and generations and combined this experiment with an association study of a set of candidate genes. The genes were selected on the basis of previous genomic and transcriptomic studies and have been linked to the physiology and life history of this or other arthropod species. Heritability was high and significant for two traits, post-diapause larval development time (h(2) = 0.37) and lifetime egg (and larval) production (h(2) = 0.62); the latter is closely related to lifetime reproductive success and therefore fitness. We discovered a strong association between genetic polymorphism in the cytochrome P450 gene CYP337 and lifetime egg production, which accounted for 14% of the additive variance in egg production. This gene belongs to a group of cytochrome P450 genes that have a well-documented role in host plant adaptations in Lepidoptera and other insects and is likely to play an important role in the ecology and microevolution of the Glanville fritillary. This study provides a prime example of a gene associated with heritable fitness variation, measured under semi-natural ecological conditions. © 2014 John Wiley & Sons Ltd.

  18. Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder

    NARCIS (Netherlands)

    Rommelse, Nanda N. J.; Franke, Barbara; Geurts, Hilde M.; Hartman, Catharina A.; Buitelaar, Jan K.

    2010-01-01

    Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders. Evidence indicates both disorders co-occur with a high frequency, in 20-50% of children with ADHD meeting criteria for ASD and in 30-80% of ASD children meeting

  19. Diet, lifestyle, heritable factors and colorectal carcinogenesis: associations with histopathological and molecular endpoints

    NARCIS (Netherlands)

    Wark, P.A.

    2007-01-01

    Background: Diet, lifestyle and heritable factors have been related to colorectal cancer risk; to date, their relevance to the overall scope of colorectal carcinogenesis, has not been clearly established.Aim and Methods: To evaluate whether distinguishing colorectal tissue by its histopathological

  20. Estimation of Epistatic Variance Components and Heritability in Founder Populations and Crosses

    Science.gov (United States)

    Young, Alexander I.; Durbin, Richard

    2014-01-01

    Genetic association studies have explained only a small proportion of the estimated heritability of complex traits, leaving the remaining heritability “missing.” Genetic interactions have been proposed as an explanation for this, because they lead to overestimates of the heritability and are hard to detect. Whether this explanation is true depends on the proportion of variance attributable to genetic interactions, which is difficult to measure in outbred populations. Founder populations exhibit a greater range of kinship than outbred populations, which helps in fitting the epistatic variance. We extend classic theory to founder populations, giving the covariance between individuals due to epistasis of any order. We recover the classic theory as a limit, and we derive a recently proposed estimator of the narrow sense heritability as a corollary. We extend the variance decomposition to include dominance. We show in simulations that it would be possible to estimate the variance from pairwise interactions with samples of a few thousand from strongly bottlenecked human founder populations, and we provide an analytical approximation of the standard error. Applying these methods to 46 traits measured in a yeast (Saccharomyces cerevisiae) cross, we estimate that pairwise interactions explain 10% of the phenotypic variance on average and that third- and higher-order interactions explain 14% of the phenotypic variance on average. We search for third-order interactions, discovering an interaction that is shared between two traits. Our methods will be relevant to future studies of epistatic variance in founder populations and crosses. PMID:25326236

  1. Heritability of insulin sensitivity and lipid profile depend on BMI : evidence for gene-obesity interaction

    NARCIS (Netherlands)

    Wang, X.; Ding, X.; Su, S.; Spector, T. D.; Mangino, M.; Iliadou, A.; Snieder, H.

    2009-01-01

    Evidence from candidate gene studies suggests that obesity may modify genetic susceptibility to type 2 diabetes and dyslipidaemia. On an aggregate level, gene-obesity interactions are expected to result in different heritability estimates at different obesity levels. However, this hypothesis has

  2. Heritability of phenotypes associated with glucose homeostasis and adiposity in a rural area of Brazil.

    Science.gov (United States)

    Pena, Geórgia G; Dutra, Míriam Santos; Gazzinelli, Andrea; Corrêa-Oliveira, Rodrigo; Velasquez-Melendez, Gustavo

    2014-01-01

    We aimed to estimate the heritability and genetic correlation between glucose homeostasis and adiposity traits in a population in a rural community in Brazil. The Jequitinhonha Community Family Study cohort consists of subjects aged ≥18 years residing in rural areas in Brazil. The data on the following traits were assembled for 280 individuals (51.7% women): body mass index (BMI), body fat percentage, waist and mid-upper arm circumferences, triceps skinfold, conicity index, insulin, glucose, high-density lipoprotein cholesterol (HDLc), triglycerides and C-reactive protein. Extended pedigrees were constructed up to the third generation of individuals using the data management software PEDSYS. The heritability and genetic correlations were estimated using a variance component method. The age- and sex-adjusted heritability values estimated for insulin (h(2) = 52%), glucose (h(2) = 51%), HDLc (h(2) = 58%), and waist circumference (WC; h(2) = 49%) were high. Significantly adjusted genetic correlations were observed between insulin paired with each of the following phenotypes; (BMI; ρg = 0.48), WC (ρg = 0.47) and HDLc (ρg = -0.47). The homeostasis model assessment of insulin resistance (HOMA-IR) was genetically correlated with BMI (ρg = 0.53) and HDLc (ρg = -0.58). The adjusted genetic correlations between traits were consistently higher compared with the environmental correlations. In conclusion, glucose metabolism and adiposity traits are highly heritable and share common genetic effects with body adiposity traits.

  3. Heritability, evolvability, phenotypic plasticity and temporal variation in sperm-competition success of Drosophila melanogaster.

    Science.gov (United States)

    Dobler, R; Reinhardt, K

    2016-05-01

    Sperm-competition success (SCS) is seen as centrally important for evolutionary change: superior fathers sire superior sons and thereby inherit the traits that make them superior. Additional hypotheses, that phenotypic plasticity in SCS and sperm ageing explain variation in paternity, are less considered. Even though various alleles have individually been shown to be correlated with variation in SCS, few studies have addressed the heritability, or evolvability, of overall SCS. Those studies that have addressed found low or no heritability and have not examined evolvability. They have further not excluded phenotypic plasticity, and temporal effects on SCS, despite their known dramatic effects on sperm function. In Drosophila melanogaster, we found that both standard components of sperm competition, sperm defence and sperm offence, showed nonsignificant heritability across several offspring cohorts. Instead, our analysis revealed, for the first time, the existence of phenotypic plasticity in SCS across an extreme environment (5% CO2 ), and an influence of sperm ageing. Evolvability of SCS was substantial for sperm defence but weak for sperm offence. Our results suggest that the paradigm of explaining evolution by sperm competition is more complex and will benefit from further experimental work on the heritability or evolvability of SCS, measuring phenotypic plasticity, and separating the effects of sperm competition and sperm ageing.

  4. [Heritability analysis on serum lipids of adult twins in Qingdao City

    DEFF Research Database (Denmark)

    Lan, Jinfeng; Pang, Zengchang; Wang, Shaojie

    2010-01-01

    were recruited from the database of Qingdao City twin registry. Fasting serum lipids were detected by automatic biochemical analyzer. The zygosity of twins was established by using polymorphic DNA-based microsatellite markers. The heritability was estimated by formulating univariate ACE twin mode in Mx...

  5. The executive prominent/memory prominent spectrum in Alzheimer's disease is highly heritable.

    Science.gov (United States)

    Mez, Jesse; Mukherjee, Shubhabrata; Thornton, Timothy; Fardo, David W; Trittschuh, Emily; Sutti, Sheila; Sherva, Richard; Kauwe, John S; Naj, Adam C; Beecham, Gary W; Gross, Alden; Saykin, Andrew J; Green, Robert C; Crane, Paul K

    2016-05-01

    Late-onset Alzheimer's disease (LOAD) can present heterogeneously, with several subtypes recognized, including dysexecutive AD. One way to identify people with dysexecutive AD is to consider the difference between memory and executive functioning, which we refer to as the executive prominent/memory prominent spectrum. We aimed to determine if this spectrum was heritable. We used neuropsychological and genetic data from people with mild LOAD (Clinical Dementia Rating 0.5 or 1.0) from the National Alzheimer's Coordinating Center and the Alzheimer's Disease Neuroimaging Initiative. We cocalibrated the neuropsychological data to obtain executive functioning and memory scores and used their difference as a continuous phenotype to calculate its heritability overall and by chromosome. Narrow-sense heritability of the difference between memory and executive functioning scores was 0.68 (standard error 0.12). Single nucleotide polymorphisms on chromosomes 1, 2, 4, 11, 12, and 18 explained the largest fraction of phenotypic variance, with signals from each chromosome accounting for 5%-7%. The chromosomal pattern of heritability differed substantially from that of LOAD itself.

  6. The Heritability of Breast Cancer among women in the Nordic Twin Study of Cancer

    DEFF Research Database (Denmark)

    Möller, Sören; Mucci, Lorelei A; Harris, Jennifer R;

    2016-01-01

    and heritability of breast cancer among 21,054 monozygotic and 30,939 dizygotic female twin pairs from the Nordic Twin Study of Cancer, the largest twin study of cancer in the world. We accounted for left-censoring, right-censoring, as well as the competing risk of death. Results From 1943 through 2010, 3...

  7. Heritability of feather pecking and open-field response of laying hens at two different ages

    NARCIS (Netherlands)

    Rodenburg, T.B.; Buitenhuis, A.J.; Ask, B.; Uitdehaag, K.A.; Koene, P.; Poel, van der J.J.; Bovenhuis, H.

    2003-01-01

    The objective of the current study was to estimate heritabilities. (h(2)) of feather pecking and open-field response of laying hens at two different ages. An F-2 cross, originating from a high and a low feather pecking line of laying hens, was used for the experiment. Each of the 630 birds of the F-

  8. Appetitive operant conditioning in mice: heritability and dissociability of training stages

    NARCIS (Netherlands)

    Malkki, H.A.I.; Donga, L.A.B.; de Groot, S.E.; Battaglia, F.P.; Brussaard, A.B.; Borst, J.G.G.; Elgersma, Y.; Galjart, N.; van der Horst, G.T.; Levelt, C.N.; Pennartz, C.M.A.; Smit, A.B.; Spruijt, B.M.; Verhage, M.; de Zeeuw, C.I.

    2010-01-01

    To study the heritability of different training stages of appetitive operant conditioning, we carried out behavioral screening of 5 standard inbred mouse strains, 28 recombinant-inbred (BxD) mouse lines and their progenitor strains C57BL/6J and DBA/2J. We also computed correlations between

  9. Camphene, a plant-derived monoterpene, reduces plasma cholesterol and triglycerides in hyperlipidemic rats independently of HMG-CoA reductase activity.

    Directory of Open Access Journals (Sweden)

    Ioanna Vallianou

    Full Text Available BACKGROUND: Central to the pathology of coronary heart disease is the accumulation of lipids, cholesterol and triglycerides, within the intima of arterial blood vessels. The search for drugs to treat dislipidemia, remains a major pharmaceutical focus. In this study, we evaluated the hypolipidemic properties of the essential oil from Chios mastic gum (MGO. METHODOLOGY/PRINCIPAL FINDINGS: The hypolipidemic effect of MGO was investigated in naïve as well as in rats susceptible to detergent-induced hyperlipidemia. Serum cholesterol and triglycerides were determined using commercial kits. HMG-CoA (3-hydroxy-3-methylglutaryl coenzyme A reductase activity was measured in HepG2 cell extracts using a radioactive assay; cellular cholesterol and cholesterol esters were assessed using gas chromatography. MGO administration into naïve rats resulted in a dose-dependent reduction in the constitutive synthesis of serum cholesterol and triglycerides. In hyperlipidemic rats, MGO treatment had also a strong hypolipidemic effect. By testing various components of MGO, we show for the first time that the hypolipidemic action is associated with camphene. Administration of camphene at a dose of 30 µg/gr of body weight in hyperlipidemic rats resulted in a 54.5% reduction of total cholesterol (p<0.001, 54% of Low Density Lipoprotein (LDL-cholesterol (p<0.001 and 34.5% of triglycerides (p<0.001. Treatment of HepG2 cells with camphene led to a decrease in cellular cholesterol content to the same extend as mevinolin, a known HMG-CoA reductase inhibitor. The hypolipidemic action of camphene is independent of HMG-CoA reductase activity, suggesting that its hypocholesterolemic and hypotriglyceridemic effects are associated with a mechanism of action different than that of statins. CONCLUSIONS: Given the critical role that the control of hyperlipidemia plays in cardiovascular disease, the results of our study provide insights into the use of camphene as an alternative lipid

  10. Variability in the heritability of body mass index: a systematic review and meta-regression

    Directory of Open Access Journals (Sweden)

    Cathy E Elks

    2012-02-01

    Full Text Available Evidence for a major role of genetic factors in the determination of body mass index (BMI comes from studies of related individuals. However, heritability estimates for BMI vary widely between studies and the reasons for this remain unclear. While some variation is natural due to differences between populations and settings, study design factors may also explain some of the heterogeneity. We performed a systematic review that identified eighty-eight independent estimates of BMI heritability from twin studies (total 140,525 twins and twenty-seven estimates from family studies (42,968 family members. BMI heritability estimates from twin studies ranged from 0.47 to 0.90 (5th/50th/95th centiles: 0.58/0.75/0.87 and were generally higher than those from family studies (range: 0.24-0.81; 5th/50th/95th centiles: 0.25/0.46/0.68. Meta-regression of the results from twin studies showed that BMI heritability estimates were 0.07 (P=0.001 higher in children than in adults; estimates increased with mean age among childhood studies (+0.012 per year, P=0.002, but decreased with mean age in adult studies (-0.002 per year, P=0.002. Heritability estimates derived from AE twin models (which assume no contribution of shared environment were 0.12 higher than those from ACE models (P<0.001, whilst lower estimates were associated with self-reported versus DNA-based determination of zygosity (-0.04, P=0.02, and with self-reported versus measured BMI (-0.05, P=0.03. Together, the above factors explained 47% of the heterogeneity in estimates of BMI heritability from twin studies. In summary, while some variation in BMI heritability is expected due to population-level differences, study design factors explained nearly half the heterogeneity reported in twin studies. The genetic contribution to BMI appears to vary with age and may have a greater influence during childhood than adult life.

  11. Heritability of the Severity of the Metabolic Syndrome in Whites and Blacks in 3 Large Cohorts.

    Science.gov (United States)

    Musani, Solomon K; Martin, Lisa J; Woo, Jessica G; Olivier, Michael; Gurka, Matthew J; DeBoer, Mark D

    2017-04-01

    Although dichotomous criteria for the metabolic syndrome (MetS) appear heritable, it is not known whether MetS severity as assessed by a continuous MetS score is heritable and whether this varies by race. We used SOLAR (Sequential Oligogenic Linkage Analysis Routines) to evaluate heritability of Adult Treatment Panel-III MetS and a sex- and race-specific MetS severity Z score among 3 large familial cohorts: the JHS (Jackson Heart Study, 1404 black participants), TOPS (Take Off Pounds Sensibly, 1947 white participants), and PLRS (Princeton Lipid Research Study, 229 black and 527 white participants). Heritability estimates were larger for Adult Treatment Panel-III MetS among black compared with white cohort members (JHS 0.48; 95% confidence interval [CI], 0.28-0.68 and PLRS blacks 0.93 [95% CI, 0.73-1.13] versus TOPS 0.21 [95% CI, -0.18 to 0.60] and PLRS whites 0.27 [95% CI, -0.04 to 0.58]). The difference by race narrowed when assessing heritability of the MetS severity score (JHS 0.52 [95% CI, 0.38, 0.66] and PLRS blacks 0.64 [95% CI, 0.13-1.15] versus TOPS 0.23 [95% CI, 0.15-0.31] and PLRS whites 0.60 [95% CI, 0.33-0.87]). There was a high degree of genetic and phenotypic correlation between MetS severity and the individual components of MetS among all groups, although the genetic correlations failed to reach statistical significance among PLRS blacks. Meta-analyses revealed a combined heritability estimate for Adult Treatment Panel-III MetS of 0.24 (95% CI, 0.11-0.36) and for the MetS severity score of 0.50 (95% CI, -0.05 to 0.99). MetS severity seems highly heritable among whites and blacks. This continuous MetS severity Z score may provide a more useful means of characterizing phenotypic MetS in genetic studies by minimizing racial differences. © 2017 American Heart Association, Inc.

  12. The heritability of glaucoma-related traits corneal hysteresis, central corneal thickness, intraocular pressure, and choroidal blood flow pulsatility.

    Directory of Open Access Journals (Sweden)

    Ellen E Freeman

    Full Text Available PURPOSE: The purpose of this work was to investigate the heritability of potential glaucoma endophenotypes. We estimated for the first time the heritability of the pulsatility of choroidal blood flow. We also sought to confirm the heritability of corneal hysteresis, central corneal thickness, and 3 ways of measuring intraocular pressure. METHODS: Measurements were performed on 96 first-degree relatives recruited from Maisonneuve-Rosemont Hospital in Montreal. Corneal hysteresis was determined using the Reichert Ocular Response Analyser. Central corneal thickness was measured with an ultrasound pachymeter. Three measures of intraocular pressure were obtained: Goldmann-correlated and corneal compensated intraocular pressure using the Ocular Response Analyser, and Pascal intraocular pressure using the Pascal Dynamic Contour Tonometer. The pulsatility of choroidal blood velocity and flow were measured in the sub-foveolar choroid using single-point laser Doppler flowmetry (Oculix. We estimated heritability using maximum-likelihood variance components methods implemented in the SOLAR software. RESULTS: No significant heritability was detected for the pulsatility of choroidal blood flow or velocity. The Goldman-correlated, corneal compensated, and Pascal measures of intraocular pressure measures were all significantly heritable at 0.94, 0.79, and 0.53 after age and sex adjustment (p = 0.0003, p = 0.0023, p = 0.0239. Central corneal thickness was significantly heritable at 0.68 (p = 0.0078. Corneal hysteresis was highly heritable but the estimate was at the upper boundary of 1.00 preventing us from giving a precise estimate. CONCLUSION: Corneal hysteresis, central corneal thickness, and intraocular pressure are all heritable and may be suitable as glaucoma endophenotypes. The pulsatility of choroidal blood flow and blood velocity were not significantly heritable in this sample.

  13. Twin and family studies reveal strong environmental and weaker genetic cues explaining heritability of eosinophilic esophagitis.

    Science.gov (United States)

    Alexander, Eileen S; Martin, Lisa J; Collins, Margaret H; Kottyan, Leah C; Sucharew, Heidi; He, Hua; Mukkada, Vincent A; Succop, Paul A; Abonia, J Pablo; Foote, Heather; Eby, Michael D; Grotjan, Tommie M; Greenler, Alexandria J; Dellon, Evan S; Demain, Jeffrey G; Furuta, Glenn T; Gurian, Larry E; Harley, John B; Hopp, Russell J; Kagalwalla, Amir; Kaul, Ajay; Nadeau, Kari C; Noel, Richard J; Putnam, Philip E; von Tiehl, Karl F; Rothenberg, Marc E

    2014-11-01

    Eosinophilic esophagitis (EoE) is a chronic antigen-driven allergic inflammatory disease, likely involving the interplay of genetic and environmental factors, yet their respective contributions to heritability are unknown. To quantify the risk associated with genes and environment on familial clustering of EoE. Family history was obtained from a hospital-based cohort of 914 EoE probands (n = 2192 first-degree "Nuclear-Family" relatives) and an international registry of monozygotic and dizygotic twins/triplets (n = 63 EoE "Twins" probands). Frequencies, recurrence risk ratios (RRRs), heritability, and twin concordance were estimated. Environmental exposures were preliminarily examined. Analysis of the Nuclear-Family-based cohort revealed that the rate of EoE, in first-degree relatives of a proband, was 1.8% (unadjusted) and 2.3% (sex-adjusted). RRRs ranged from 10 to 64, depending on the family relationship, and were higher in brothers (64.0; P = .04), fathers (42.9; P = .004), and males (50.7; P Twins cohort, genetic heritability was 14.5% ± 4.0% (P twins was 57.9% ± 9.5% compared with 36.4% ± 9.3% in dizygotic co-twins (P = .11). Greater birth weight difference between twins (P = .01), breast-feeding (P = .15), and fall birth season (P = .02) were associated with twin discordance in disease status. EoE RRRs are increased 10- to 64-fold compared with the general population. EoE in relatives is 1.8% to 2.4%, depending on relationship and sex. Nuclear-Family heritability appeared to be high (72.0%). However, the Twins cohort analysis revealed a powerful role for common environment (81.0%) compared with additive genetic heritability (14.5%). Copyright © 2014 American Academy of Allergy, Asthma & Immunology. All rights reserved.

  14. Sexual variation in heritability and genetic correlations of morphological traits in house sparrow (Passer domesticus).

    Science.gov (United States)

    Jensen, H; Saether, B E; Ringsby, T H; Tufto, J; Griffith, S C; Ellegren, H

    2003-11-01

    Estimates of genetic components are important for our understanding of how individual characteristics are transferred between generations. We show that the level of heritability varies between 0.12 and 0.68 in six morphological traits in house sparrows (Passer domesticus L.) in northern Norway. Positive and negative genetic correlations were present among traits, suggesting evolutionary constraints on the evolution of some of these characters. A sexual difference in the amount of heritable genetic variation was found in tarsus length, wing length, bill depth and body condition index, with generally higher heritability in females. In addition, the structure of the genetic variance-covariance matrix for the traits differed between the sexes. Genetic correlations between males and females for the morphological traits were however large and not significantly different from one, indicating that sex-specific responses to selection will be influenced by intersexual differences in selection differentials. Despite this, some traits had heritability above 0.1 in females, even after conditioning on the additive genetic covariance between sexes and the additive genetic variances in males. Moreover, a meta-analysis indicated that higher heritability in females than in males may be common in birds. Thus, this indicates sexual differences in the genetic architecture of birds. Consequently, as in house sparrows, the evolutionary responses to selection will often be larger in females than males. Hence, our results suggest that sex-specific additive genetic variances and covariances, although ignored in most studies, should be included when making predictions of evolutionary changes from standard quantitative genetic models.

  15. Effect of Extended-Release Niacin on New-Onset Diabetes Among Hyperlipidemic Patients Treated With Ezetimibe/Simvastatin in a Randomized Controlled Trial

    Science.gov (United States)

    Guyton, John R.; Fazio, Sergio; Adewale, Adeniyi J.; Jensen, Erin; Tomassini, Joanne E.; Shah, Arvind; Tershakovec, Andrew M.

    2012-01-01

    OBJECTIVE To determine the effect of niacin on fasting glucose (FG) and new-onset diabetes in statin/ezetimibe-treated patients. RESEARCH DESIGN AND METHODS This was a prespecified secondary analysis among 942 hyperlipidemic patients randomized to ezetimibe/simvastatin (E/S; 10/20 mg) or E/S + extended-release niacin (N; titrated to 2 g) over 64 weeks. RESULTS FG levels peaked by 8–12 weeks, then declined even without antidiabetic medication. At 64 weeks, 3.5% taking E/S+N versus 2.6% taking E/S met criteria for new-onset diabetes (P = 0.66). An additional 1.4% taking E/S+N versus 0.4% taking E/S transiently met criteria for diabetes and then remitted (P = 0.46). Of 28 new-diabetes diagnoses in the E/S+N group, 25 occurred by 24 weeks. Among patients with baseline diabetes, 13.9% taking E/S+N and 11.6% taking E/S underwent antidiabetic treatment modification. CONCLUSIONS Increased FG and new-onset diabetes with E/S+N occurred mainly around the time of initial uptitration of N and often improved or remitted without specific treatment. PMID:22338103

  16. Serum perfluorooctanoic acid (PFOA concentrations in normal and hyperlipidemic female hamsters dosed orally with ammonium perfluorooctanoate (APFO for up to 30 days

    Directory of Open Access Journals (Sweden)

    Nancy E. Everds

    2015-01-01

    Full Text Available In epidemiology studies, the presence of perfluorooctanoate (PFOA in human blood has been associated with higher serum cholesterol concentrations. A possible explanation for these results is that elevated serum cholesterol might reduce clearance of PFOA. In this study, female hamsters, which transport and regulate cholesterol in a manner similar to humans, were fed normal diet or diet supplemented with 0.05% cholesterol and 10% coconut oil (high-fat diet resulting in hyperlipidemia throughout the study in supplemented animals. Hamsters on either a normal and high-fat diet were given oral doses of 0.1, 1.0, or 10 mg APFO/kg for 30 days. Serum PFOA concentrations evaluated 24 h after 1, 10, 20, and 30 doses of APFO were not altered in hyperlipidemic hamsters compared to those fed normal diet. For a given dose group, serum concentrations of PFOA were highest following the 10 doses (except for the 10 mg/kg group where concentrations were the highest after the first dose and were lowest after 20 and 30 doses. Under the condition of this study, higher serum lipids did not affect the absorption and clearance of serum PFOA. Serum PFOA concentrations declined over the course of the study despite continued daily dosing with APFO. This does not support the hypothesis that higher serum lipids might increase the retention of PFOA in the body.

  17. Correlation of Body Mass Index and Waist-Hip Ratio with Severity and Complications of Hyperlipidemic Acute Pancreatitis in Chinese Patients

    Directory of Open Access Journals (Sweden)

    Lixin Yang

    2017-01-01

    Full Text Available Hyperlipidemic acute pancreatitis (HLAP is characterized by critical condition and high recurrence rate compared with non-HLAP. We conducted this study to investigate the value of body mass index and waist-hip ratio in predicting severity and local complications in HLAP. 96 patients with HLAP were categorized by body mass index and waist-hip ratio, respectively. According to the body mass index, they were divided into 3 groups, including normal weight, overweight, and obesity. According to the waist-hip ratio, they were divided into central obesity group and no central obesity group. The body mass index and waist-hip ratio were compared in severity, local complications, and systematic complications of HLAP, using chi-square test and Monte Carlo simulations. The body mass index and waist-hip ratio were correlated with the severity of acute pancreatitis (MAP, MSAP, and SAP, respiratory failure, and circulatory failure in HLAP (p<0.05, but not correlated with the local complications (walled-off necrosis, pancreatic abscess, and pancreatic pseudocyst, renal failure, and gastrointestinal bleeding.The body mass index and waist-hip ratio are valuable in predicting severity and complication in HLAP. We demonstrated that obese patients had an increased risk of developing more serious condition and more complications in HLAP.

  18. Anti-hyperlipidemic effects and potential mechanisms of action of the caffeoylquinic acid-rich Pandanus tectorius fruit extract in hamsters fed a high fat-diet.

    Directory of Open Access Journals (Sweden)

    Xiaopo Zhang

    Full Text Available Hyperlipidemia is considered to be one of the greatest risk factors contributing to the prevalence and severity of cardiovascular diseases. In this work, we investigated the anti-hyperlipidemic effect and potential mechanism of action of the Pandanus tectorius fruit extract in hamsters fed a high fat-diet (HFD. The n-butanol fraction of the P. tectorius fruit ethanol extract (PTF-b was rich in caffeoylquinic acids (CQAs. Administration of PTF-b for 4 weeks effectively decreased retroperitoneal fat and the serum levels of total cholesterol (TC, triglycerides (TG and low density lipoprotein-cholesterol (LDL-c and hepatic TC and TG. The lipid signals (fatty acids, and cholesterol in the liver as determined by nuclear magnetic resonance (NMR were correspondingly reduced. Realtime quantitative PCR showed that the mRNA levels of PPARα and PPARα-regulated genes such as ACO, CPT1, LPL and HSL were largely enhanced by PTF-b. The transcription of LDLR, CYP7A1, and PPARγ was also upregulated. Treatment with PTF-b significantly stimulated the activation of AMP-activated protein kinase (AMPK as well as the activity of serum and hepatic lipoprotein lipase (LPL. Together, these results suggest that administration of the PTF-b enriched in CQAs moderates hyperlipidemia and improves the liver lipid profile. These effects may be caused, at least in part, by increasing the expression of PPARα and its downstream genes and by upregulation of LPL and AMPK activities.

  19. Heritability estimate of yearling and post-yearling muscle index in Nellore cattle

    Directory of Open Access Journals (Sweden)

    Carolina Cesarino Coutinho

    2013-12-01

    Full Text Available The objective of this study was to estimate heritability of carcass muscle index (MI in yearling (MIy and post-yearling (MIp Nellore cattle. MI is the measure of longissimus muscle area (LMA expressed in relation to body weight (MI=100×LMA/BW, being an indicative of animal muscularity. The records of LMA, obtained by ultrasound, and body weight (BW were from the three Nellore herds reared at Centro APTA Bovinos de Corte, Instituto de Zootecnia, Sertãozinho-SP, born between 1999 to 2011, excepting 1998, 2000 and 2003. The measures were collected when the animals were on average 372 ± 26 days (yearling and 562 ± 33 days (post-yearling of age. The animals are progeny of 163 bulls and relationship matrix included 3436 animals. Variance components were estimated by REML in two single-trait analyses. The model included the fixed effects of contemporary group (herd-year-sex, i=1, …, 48, month of birth (j=1, …, 3 and dam age (linear and quadratic effects and animal age at measurement (linear effect, and random effects of animal and residual. The average of LMA and BW were: 48.4 ± 10.7 cm² and 287±59 kg; 50.5 ± 9.2 cm² and 339 ± 64 kg, respectively for yearling and post-yearling. Despite the differences between yearling and post-yearling LMA and BW (plus 2.2 cm ² and 52 kg at post-yearling than yearling, the same was not observed for MI. BW has increased from yearling to post-yearling, LMA has not increased proportionally, and MIps was smaller than MIy. The heritability estimates for IMy and IMp were medium to high magnitude indicating that part of the variation in these traits are attributable to genes of additive effects. In previous studies, the heritability of LMA at yearling was also higher than heritability of LMA at post-yearling, however, heritability of yearling weight was lower than heritability of post-yearling weight. More studies are required to estimate genetic correlations of MIy and MIp and weight and percentage of retail

  20. Twin and family studies reveal strong environmental and weaker genetic cues explaining heritability of eosinophilic esophagitis

    Science.gov (United States)

    Alexander, Eileen S.; Martin, Lisa J.; Collins, Margaret H.; Kottyan, Leah; Sucharew, Heidi; He, Hua; Mukkada, Vincent A.; Succop, Paul A.; Abonia, J. Pablo; Foote, Heather; Eby, Michael D.; Grotjan, Tommie M.; Greenler, Alexandria J.; Dellon, Evan S.; Demain, Jeffrey G.; Furuta, Glenn T.; Gurian, Larry E.; Harley, John B.; Hopp, Russell J.; Kaul, Ajay; Nadeau, Kari C.; Noel, Richard J.; Putnam, Philip E.; von Tiehl, Karl F.; Rothenberg, Marc E.

    2014-01-01

    Background Eosinophilic esophagitis (EoE) is a chronic antigen-driven allergic inflammatory disease, likely involving the interplay of genetic and environmental factors, yet their respective contributions to heritability are unknown. Objective To quantify risk associated with genes and environment on familial clustering of EoE. Methods Family history was obtained from a hospital-based cohort of 914 EoE probands, (n=2192 first-degree “Nuclear-Family” relatives) and the new international registry of monozygotic and dizygotic twins/triplets (n=63 EoE “Twins” probands). Frequencies, recurrence risk ratios (RRRs), heritability and twin concordance were estimated. Environmental exposures were preliminarily examined. Results Analysis of the Nuclear-Family–based cohort revealed that the rate of EoE, in first-degree relatives of a proband, was 1.8% (unadjusted) and 2.3% (sex-adjusted). RRRs ranged from 10–64, depending on the family relationship, and were higher in brothers (64.0; p=0.04), fathers (42.9; p=0.004) and males (50.7; p<0.001) compared to sisters, mothers and females, respectively. Risk of EoE for other siblings was 2.4%. In the Nuclear-Families, combined gene and common environment heritability (hgc2) was 72.0±2.7% (p<0.001). In the Twins cohort, genetic heritability was 14.5±4.0% (p<0.001), and common family environment contributed 81.0±4% (p<0.001) to phenotypic variance. Proband-wise concordance in MZ co-twins was 57.9±9.5% compared to 36.4±9.3% in DZ (p=0.11). Greater birth-weight difference between twins (p=0.01), breastfeeding (p=0.15) and Fall birth season (p=0.02) were associated with twin discordance in disease status. Conclusions EoE recurrence risk ratios are increased 10–64-fold compared with the general population. EoE in relatives is 1.8–2.4%, depending upon relationship and sex. Nuclear-Family heritability appeared to be high (72.0%). However, Twins cohort analysis revealed a powerful role for common environment (81

  1. Unpacking the heritability of diabetes: The problem of attempting to quantify the relative contributions of nature and nuture

    OpenAIRE

    Chaufan, Claudia MD, PhD

    2008-01-01

    In this paper I analyze the concept of heritability as used technically in medical research. I use diabetes as a paradigmatic “common disease” whose heritability is computed with a view to disentangling the relative contributions of “nature” and “nurture”. I show what heritability measures and what it does not, and theorize about the scope of application of this measurement for diabetes-relevant medical research, health care practices, and public health policies. I argue that this analysis ap...

  2. Heritability and environmental effects for self-reported periods with stuttering: A twin study from Denmark

    DEFF Research Database (Denmark)

    Fagnani, Corrado; Fibiger, Steen; Skytthe, Axel;

    2011-01-01

    Genetic influence for stuttering was studied based on adult self-reporting. Using nation-wide questionnaire answers from 33,317 Danish twins, a univariate biometric analysis based on the liability threshold model was performed in order to estimate the heritability of stuttering. The self......-reported incidences for stuttering were from less than 4% for females to near 9% for males. Both probandwise concordance rate and tetrachoric correlation were substantially higher for monozygotic compared to dizygotic pairs, indicating substantial genetic influence on individual liability. Univariate biometric...... analyses showed that additive genetic and unique environmental factors best explained the observed concordance patterns. Heritability estimates for males/females were 0.84/0.81. Moderate unique environmental effects were also found. Genetic influence for stuttering was studied based on adult self...

  3. Heritability and genetic trends of number of kits born alive in a synthetic maternal rabbit line

    Directory of Open Access Journals (Sweden)

    Zsolt Szendrő

    2010-01-01

    Full Text Available Heritability and genetic trends for number of kits born alive in a synthetic maternal rabbit line were estimated in this study. The data were collected from 1999 to 2007 on 5640 kindlings of 1425 does. The total number of animals in the pedigree was 2576. The mean number of kits born alive was 8.42 with a standard deviation of 2.87. Genetic parameters and breeding values were estimated using the VCE-5 and PEST software based on the REML and BLUP methods using a repeatability animal model. For litter size, the first, second and third parities were treated as repeated trait, while the fourth and further parities were pooled and considered as same repetition. The estimated heritability and the repeatability for number of kits born alive were low (0.05 and 0.14. The observed selection response was about 0.04 rabbits/year.

  4. The Tapestry of Life: Lateral Transfers of Heritable Elements - Scientific Meeting

    Energy Technology Data Exchange (ETDEWEB)

    Claire M. Fraser, Ph.D.

    2005-12-31

    The Sackler Colloquium The Tapestry of Life: Lateral Transfers of Heritable Elements was held on December 12-13, 2005. What Darwin saw as a tree of life descending in a linear fashion, is now more accurately seen as a tapestry of life, an anastomosing network, with important lateral transfers of heritable elements among parallel lines of descent These transfers range in complexity from small insertion sequences, to whole genes, gene islands, and portions of whole genomes which may be combined in symbiogenesis. The colloquium brought together researchers, empirical and theoretical, working at all levels on genomics, comparative genomics, and metagenomics to identify common and differentiating features of lateral gene transfer and to examine their implications for science and for human concerns.

  5. Estrus Traits Derived from Activity Measurements are Heritable and Closely Related to Conventional

    DEFF Research Database (Denmark)

    Ismael, Ahmed Ismael Sayed; Kargo, Morten; Fogh, Anders

    This study was aimed at assessing the genetic parameters for fertility-related traits, comparing the interval from calving to first insemination (ICF) to physical activity traits, especially days from calving to first high activity, DFHA. Data from commercial Holstein herds included insemination...... dates of 11,363 cows for ICF. The activity traits were derived from electronic activity tags for 3533 Holstein cows. Estimates of heritability were 0.05 for ICF and 0.15 for DFHA. The genetic correlation between ICF and DFHA was strong (0.92). The high heritability estimate and the strong genetic...... correlation between ICF and DFHA suggest that genetic gain in ICF can be improved by including DFHA as a supplementary trait in the genetic evaluation of female fertility...

  6. Heritability and environmental effects for self-reported periods with stuttering: A twin study from Denmark

    DEFF Research Database (Denmark)

    Fagnani, Corrado; Fibiger, Steen; Skytthe, Axel

    2011-01-01

    Genetic influence for stuttering was studied based on adult self-reporting. Using nation-wide questionnaire answers from 33,317 Danish twins, a univariate biometric analysis based on the liability threshold model was performed in order to estimate the heritability of stuttering. The self......-reported incidences for stuttering were from less than 4% for females to near 9% for males. Both probandwise concordance rate and tetrachoric correlation were substantially higher for monozygotic compared to dizygotic pairs, indicating substantial genetic influence on individual liability. Univariate biometric...... analyses showed that additive genetic and unique environmental factors best explained the observed concordance patterns. Heritability estimates for males/females were 0.84/0.81. Moderate unique environmental effects were also found. Genetic influence for stuttering was studied based on adult self...

  7. The effect of intraspecific variation and heritability on community pattern and robustness.

    Science.gov (United States)

    Barabás, György; D'Andrea, Rafael

    2016-08-01

    Intraspecific trait variation is widespread in nature, yet its effects on community dynamics are not well understood. Here we explore the consequences of intraspecific trait variation for coexistence in two- and multispecies competitive communities. For two species, the likelihood of coexistence is in general reduced by intraspecific variation, except when the species have almost equal trait means but different trait variances, such that one is a generalist and the other a specialist consumer. In multispecies communities, the only strong effect of non-heritable intraspecific variation is to reduce expected species richness. However, when intraspecific variation is heritable, allowing for the possibility of trait evolution, communities are much more resilient against environmental disturbance and exhibit far more predictable trait patterns. Our results are robust to varying model parameters and relaxing model assumptions.

  8. Using genetic markers in unpedigreed populations to detect a heritable trait

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Before a breeder invests selection pressure on a trait of interest, it needs to be established whether that trait is actually heritable. Some traits may not have been measured widely in pedigreed populations, for example, a disease or deformity may become more prevalent than previously, but is still relatively rare. One approach to detect inheritance would be to screen a commercial population to obtain a sample of "affecteds" (the test group) and to also obtain a random control group. These individuals are then genotyped with a set of genetic markers and the relationships between individuals within each group estimated. If the relatedness is higher in the test group than in the control group, this provides initial evidence for the trait being heritable. A power simulation shows that this approach is feasible with moderate resources.

  9. Twin study of heritability of eating bread in Danish and Finnish men and women

    DEFF Research Database (Denmark)

    Hasselbalch, Ann Louise; Silventoinen, Karri; Keskitalo, Kaisu;

    2010-01-01

    Bread is an elementary part of the western diet, and especially rye bread is regarded as an important source of fibre. We investigated the heritability of eating bread in terms of choice of white and rye bread and use-frequency of bread in female and male twins in Denmark and Finland. The study...... cohorts included 575 Danish (age range 18-67 years) and 2009 Finnish (age range 22-27 years) adult twin pairs. Self-reported frequency of eating bread was obtained by food frequency questionnaires. Univariate models based on linear structural equations for twin data were used to estimate the relative...... magnitude of the additive genetic, shared environmental and individual environmental effects on bread eating frequency and choice of bread. The analysis of bread intake frequency demonstrated moderate heritability ranging from 37-40% in the Finnish cohort and 23-26% in the Danish cohort. The genetic...

  10. Heritability estimates for methane emission in Holstein cows using breath measurements

    DEFF Research Database (Denmark)

    Lassen, Jan; Madsen, Jørgen; Løvendahl, Peter

    2012-01-01

    Enteric methane emission from ruminants contributes substantially to the greenhouse effect. Few studies have focused on the genetic variation in enteric methane emission from dairy cattle. The objective of this study was to estimate the heritability for enteric methane emission from Danish Holstein...... of economic importance in the breeding goal as well as the possibility to use methane as an indicator of feed efficiency. It is concluded that FTIR breath analysis is effective for measuring GHG emissions and may find further applications with a wider panel of gases including acetone and its relation...... model included fixed effects of herd, month, days in milk, lactation number, and random effects of animal and residual. Variance components were estimated in an animal model design using a pedigree containing 9661 animals. The heritability of the methane to carbon dioxide ratio was moderate (0...

  11. Heritable and precise zebrafish genome editing using a CRISPR-Cas system.

    Directory of Open Access Journals (Sweden)

    Woong Y Hwang

    Full Text Available We have previously reported a simple and customizable CRISPR (clustered regularly interspaced short palindromic repeats RNA-guided Cas9 nuclease (RGN system that can be used to efficiently and robustly introduce somatic indel mutations in endogenous zebrafish genes. Here we demonstrate that RGN-induced mutations are heritable, with efficiencies of germline transmission reaching as high as 100%. In addition, we extend the power of the RGN system by showing that these nucleases can be used with single-stranded oligodeoxynucleotides (ssODNs to create precise intended sequence modifications, including single nucleotide substitutions. Finally, we describe and validate simple strategies that improve the targeting range of RGNs from 1 in every 128 basepairs (bps of random DNA sequence to 1 in every 8 bps. Together, these advances expand the utility of the CRISPR-Cas system in the zebrafish beyond somatic indel formation to heritable and precise genome modifications.

  12. A note on the heritability of reactivity assessed at field tests for Danish Warmblood horses

    DEFF Research Database (Denmark)

    Nielsen, Janne Rothmann; Christensen, Ole Fredslund; Søndergaard, Eva

    2014-01-01

    Temperament traits in horses, especially reactivity, are an important trait in relation to human–horse accidents and the welfare of the horses. However, so far, temperament is often not included in many horse breeding programs. Most of the behavioral genetic studies in horses have been based......, a high standard error was untainted. Nevertheless, results suggested a genetic variation of reactivity when assessed at field tests, but further research is needed before reactivity can be incorporated as a selection criteria into a breeding program....... on indirect indications of a sire effect and not on estimations of the heritability of temperament traits. Therefore, the aim of this study was to estimate the heritability of behavior reactions related to reactivity observed in a practical situation, that is, during the evaluation of the conformation...

  13. Heritability of pain catastrophizing and associations with experimental pain outcomes: a twin study.

    Science.gov (United States)

    Trost, Zina; Strachan, Eric; Sullivan, Michael; Vervoort, Tine; Avery, Ally R; Afari, Niloofar

    2015-03-01

    This study used a twin paradigm to examine genetic and environmental contributions to pain catastrophizing and the observed association between pain catastrophizing and cold-pressor task (CPT) outcomes. Male and female monozygotic (n = 206) and dizygotic twins (n = 194) from the University of Washington Twin Registry completed a measure of pain catastrophizing and performed a CPT challenge. As expected, pain catastrophizing emerged as a significant predictor of several CPT outcomes, including cold-pressor Immersion Tolerance, Pain Tolerance, and Delayed Pain Rating. The heritability estimate for pain catastrophizing was found to be 37% with the remaining 63% of variance attributable to unique environmental influence. Additionally, the observed associations between pain catastrophizing and CPT outcomes were not found attributable to shared genetics or environmental exposure, which suggests a direct relationship between catastrophizing and experimental pain outcomes. This study is the first to examine the heritability of pain catastrophizing and potential processes by which pain catastrophizing is related to experimental pain response.

  14. DNA repair decline during mouse spermiogenesis results in the accumulation of heritable DNA damage

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, Francesco; Marchetti, Francesco; Wryobek, Andrew J

    2008-02-21

    The post-meiotic phase of mouse spermatogenesis (spermiogenesis) is very sensitive to the genomic effects of environmental mutagens because as male germ cells form mature sperm they progressively lose the ability to repair DNA damage. We hypothesized that repeated exposures to mutagens during this repair-deficient phase result in the accumulation of heritable genomic damage in mouse sperm that leads to chromosomal aberrations in zygotes after fertilization. We used a combination of single or fractionated exposures to diepoxybutane (DEB), a component of tobacco smoke, to investigate how differential DNA repair efficiencies during the three weeks of spermiogenesis affected the accumulation of DEB-induced heritable damage in early spermatids (21-15 days before fertilization, dbf), late spermatids (14-8 dbf) and sperm (7- 1 dbf). Analysis of chromosomalaberrations in zygotic metaphases using PAINT/DAPI showed that late spermatids and sperm are unable to repair DEB-induced DNA damage as demonstrated by significant increases (P<0.001) in the frequencies of zygotes with chromosomal aberrations. Comparisons between single and fractionated exposures suggested that the DNA repair-deficient window during late spermiogenesis may be less than two weeks in the mouse and that during this repair-deficient window there is accumulation of DNA damage in sperm. Finally, the dose-response study in sperm indicated a linear response for both single and repeated exposures. These findings show that the differential DNA repair capacity of post-meioitic male germ cells has a major impact on the risk of paternally transmitted heritable damage and suggest that chronic exposures that may occur in the weeks prior to fertilization because of occupational or lifestyle factors (i.e, smoking) can lead to an accumulation of genetic damage in sperm and result in heritable chromosomal aberrations of paternal origin.

  15. DNA Repair Decline During Mouse Spermiogenesis Results in the Accumulation of Heritable DNA Damage

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, Francesco; Marchetti, Francesco; Wyrobek, Andrew J.

    2007-12-01

    The post-meiotic phase of mouse spermatogenesis (spermiogenesis) is very sensitive to the genomic effects of environmental mutagens because as male germ cells form mature sperm they progressively lose the ability to repair DNA damage. We hypothesized that repeated exposures to mutagens during this repair-deficient phase result in the accumulation of heritable genomic damage in mouse sperm that leads to chromosomal aberrations in zygotes after fertilization. We used a combination of single or fractionated exposures to diepoxybutane (DEB), a component of tobacco smoke, to investigate how differential DNA repair efficiencies during the three weeks of spermiogenesis affected the accumulation of DEB-induced heritable damage in early spermatids (21-15 days before fertilization, dbf), late spermatids (14-8 dbf) and sperm (7-1 dbf). Analysis of chromosomal aberrations in zygotic metaphases using PAINT/DAPI showed that late spermatids and sperm are unable to repair DEB-induced DNA damage as demonstrated by significant increases (P<0.001) in the frequencies of zygotes with chromosomal aberrations. Comparisons between single and fractionated exposures suggested that the DNA repair-deficient window during late spermiogenesis may be less than two weeks in the mouse and that during this repair-deficient window there is accumulation of DNA damage in sperm. Finally, the dose-response study in sperm indicated a linear response for both single and repeated exposures. These findings show that the differential DNA repair capacity of post-meioitic male germ cells has a major impact on the risk of paternally transmitted heritable damage and suggest that chronic exposures that may occur in the weeks prior to fertilization because of occupational or lifestyle factors (i.e, smoking) can lead to an accumulation of genetic damage in sperm and result in heritable chromosomal aberrations of paternal origin.

  16. A review and meta-analysis of the heritability of specific phobia subtypes and corresponding fears

    OpenAIRE

    van Houtem, C.M.H.H.; Laine, M.L.; Boomsma, D.I.; Ligthart, L.; van Wijk, A J; De Jongh, A.

    2013-01-01

    Evidence from twin studies suggests that genetic factors contribute to the risk of developing a fear or a phobia. The aim of the present study was to review the current literature regarding twin studies describing the genetic basis of specific phobias and their corresponding fears. The analysis included five twin studies on fears and ten twin studies on specific phobias. Heritability estimates of fear subtypes and specific phobia subtypes both varied widely, even within the subtypes. A meta-a...

  17. Source of variation and heritability of directly measured traits in performance testing of Simmental bulls

    Directory of Open Access Journals (Sweden)

    Bogdanović Vladan

    2012-01-01

    Full Text Available In order to study the variability and heritability of directly measured traits (growth and body development traits in performance test of Simmental bulls the data on 371 bulls born and tested over the period of 13 years were used in the analysis. The data were analyzed in order to estimate year and month of calving, herd of origin and group in test effect as well as error components. The components of variance were obtained using restricted maximum likelihood (REML methodology applied to sire model. The year and month of birth had different effect on the variability of the growth traits, while the herd of origin and the test group manifested a consistent, highly significant effect on those growth traits which they could have an effect on. On the other hand, all the body development traits were under a constant and highly significant effect manifested by the year of calving, while the month of calving manifested its effect, during test, at different levels of statistical significance. A decreased effect of herd of origin on almost all body dimensions from the start until the end of performance test was universally observed. Heritability estimates for pre-test ADG, in-test and lifetime ADG were 0.27, 0.39 and 0.29, respectively. Heritability estimates for body weights were 0.23, 0.25, and 0.30 for birth weight, test-on weight, and test-off weight, respectively. Heritability estimates for test-off height at withers, circumference of chest, depth of chest and body length were 0.43, 0.30, 0.33 and 0.29.

  18. Superparasitism Drives Heritable Symbiont Epidemiology and Host Sex Ratio in a Wasp.

    Directory of Open Access Journals (Sweden)

    Steven R Parratt

    2016-06-01

    Full Text Available Heritable microbial symbionts have profound impacts upon the biology of their arthropod hosts. Whilst our current understanding of the dynamics of these symbionts is typically cast within a framework of vertical transmission only, horizontal transmission has been observed in a number of cases. For instance, several symbionts can transmit horizontally when their parasitoid hosts share oviposition patches with uninfected conspecifics, a phenomenon called superparasitism. Despite this, horizontal transmission, and the host contact structures that facilitates it, have not been considered in heritable symbiont epidemiology. Here, we tested for the importance of host contact, and resulting horizontal transmission, for the epidemiology of a male-killing heritable symbiont (Arsenophonus nasoniae in parasitoid wasp hosts. We observed that host contact through superparasitism is necessary for this symbiont's spread in populations of its primary host Nasonia vitripennis, such that when superparasitism rates are high, A. nasoniae almost reaches fixation, causes highly female biased population sex ratios and consequently causes local host extinction. We further tested if natural interspecific variation in superparasitism behaviours predicted symbiont dynamics among parasitoid species. We found that A. nasoniae was maintained in laboratory populations of a closely related set of Nasonia species, but declined in other, more distantly related pteromalid hosts. The natural proclivity of a species to superparasitise was the primary factor determining symbiont persistence. Our results thus indicate that host contact behaviour is a key factor for heritable microbe dynamics when horizontal transmission is possible, and that 'reproductive parasite' phenotypes, such as male-killing, may be of secondary importance in the dynamics of such symbiont infections.

  19. Heritability and fitness correlates of personality in the Ache, a natural-fertility population in Paraguay.

    Directory of Open Access Journals (Sweden)

    Drew H Bailey

    Full Text Available The current study assessed the heritability of personality in a traditional natural-fertility population, the Ache of eastern Paraguay. Self-reports (n = 110 and other-reports (n = 66 on the commonly used Big Five Personality Inventory (i.e., extraversion, agreeableness, conscientiousness, neuroticism, openness were collected. Self-reports did not support the Five Factor Model developed with Western samples, and did not correlate with other-reports for three of the five measured personality factors. Heritability was assessed using factors that were consistent across self- and other-reports and factors assessed using other-reports that showed reliabilities similar to those found in Western samples. Analyses of these items in combination with a multi-generation pedigree (n = 2,132 revealed heritability estimates similar to those found in most Western samples, although we were not able to separately estimate the influence of the common environment on these traits. We also assessed relations between personality and reproductive success (RS, allowing for a test of several mechanisms that might be maintaining heritable variation in personality. Phenotypic analyses, based largely on other-reports, revealed that extraverted men had higher RS than other men, but no other dimensions of personality predicted RS in either sex. Mothers with more agreeable children had more children, and parents mated assortatively on personality. Of the evolutionary processes proposed to maintain variation in personality, assortative mating, selective neutrality, and temporal variation in selection pressures received the most support. However, the current study does not rule out other processes affecting the evolution and maintenance of individual differences in human personality.

  20. Lambing Ease is Heritable but not Correlated to Litter Size in Danish Meat Sheep Breeds

    DEFF Research Database (Denmark)

    Sørensen, Anders Christian; Valasek, P; Pedersen, Jørn;

    The aim of this study was to estimate genetic parameters of lambing ease (LE) and litter size (LS) in four common Danish meat sheep breeds. Data from 1990 to 2006 were analysed. A bivariate animal model was used for estimation of genetic parameters. Lambing ease showed a low heritability, both...... the LE and LS was found, which means that selection to improve one trait should not affect the other trait. Lambing ease should therefore be included in the selection criterion....

  1. Lessons from model organisms: phenotypic robustness and missing heritability in complex disease.

    Directory of Open Access Journals (Sweden)

    Christine Queitsch

    Full Text Available Genetically tractable model organisms from phages to mice have taught us invaluable lessons about fundamental biological processes and disease-causing mutations. Owing to technological and computational advances, human biology and the causes of human diseases have become accessible as never before. Progress in identifying genetic determinants for human diseases has been most remarkable for Mendelian traits. In contrast, identifying genetic determinants for complex diseases such as diabetes, cancer, and cardiovascular and neurological diseases has remained challenging, despite the fact that these diseases cluster in families. Hundreds of variants associated with complex diseases have been found in genome-wide association studies (GWAS, yet most of these variants explain only a modest amount of the observed heritability, a phenomenon known as "missing heritability." The missing heritability has been attributed to many factors, mainly inadequacies in genotyping and phenotyping. We argue that lessons learned about complex traits in model organisms offer an alternative explanation for missing heritability in humans. In diverse model organisms, phenotypic robustness differs among individuals, and those with decreased robustness show increased penetrance of mutations and express previously cryptic genetic variation. We propose that phenotypic robustness also differs among humans and that individuals with lower robustness will be more responsive to genetic and environmental perturbations and hence susceptible to disease. Phenotypic robustness is a quantitative trait that can be accurately measured in model organisms, but not as yet in humans. We propose feasible approaches to measure robustness in large human populations, proof-of-principle experiments for robustness markers in model organisms, and a new GWAS design that takes differences in robustness into account.

  2. Superparasitism Drives Heritable Symbiont Epidemiology and Host Sex Ratio in a Wasp.

    Directory of Open Access Journals (Sweden)

    Steven R Parratt

    2016-06-01

    Full Text Available Heritable microbial symbionts have profound impacts upon the biology of their arthropod hosts. Whilst our current understanding of the dynamics of these symbionts is typically cast within a framework of vertical transmission only, horizontal transmission has been observed in a number of cases. For instance, several symbionts can transmit horizontally when their parasitoid hosts share oviposition patches with uninfected conspecifics, a phenomenon called superparasitism. Despite this, horizontal transmission, and the host contact structures that facilitates it, have not been considered in heritable symbiont epidemiology. Here, we tested for the importance of host contact, and resulting horizontal transmission, for the epidemiology of a male-killing heritable symbiont (Arsenophonus nasoniae in parasitoid wasp hosts. We observed that host contact through superparasitism is necessary for this symbiont's spread in populations of its primary host Nasonia vitripennis, such that when superparasitism rates are high, A. nasoniae almost reaches fixation, causes highly female biased population sex ratios and consequently causes local host extinction. We further tested if natural interspecific variation in superparasitism behaviours predicted symbiont dynamics among parasitoid species. We found that A. nasoniae was maintained in laboratory populations of a closely related set of Nasonia species, but declined in other, more distantly related pteromalid hosts. The natural proclivity of a species to superparasitise was the primary factor determining symbiont persistence. Our results thus indicate that host contact behaviour is a key factor for heritable microbe dynamics when horizontal transmission is possible, and that 'reproductive parasite' phenotypes, such as male-killing, may be of secondary importance in the dynamics of such symbiont infections.

  3. The heritability of Cluster B personality disorders assessed both by personal interview and questionnaire.

    Science.gov (United States)

    Torgersen, Svenn; Myers, John; Reichborn-Kjennerud, Ted; Røysamb, Espen; Kubarych, Thomas S; Kendler, Kenneth S

    2012-12-01

    Whereas the heritability of common personality traits has been firmly established, the results of the few published studies on personality disorders (PDs) are highly divergent, with some studies finding high heredity and others very low. A problem with assessing personality disorders by means of interview is errors connected with interviewer bias. A way to overcome the problem is to use self-report questionnaires in addition to interviews. This study used both interview and questionnaire for assessing DSM-IV Cluster B personality disorders: antisocial personality disorder (APD), borderline (BPD), narcissistic (NPD), and histrionic (HPD). We assessed close to 2,800 twins from the Norwegian Institute of Public Health Twin Panel using a self-report questionnaire and, a few years later, the Structured Interview for DSM-IV Personality (SIDP-IV). Items from the self-report questionnaire that best predicted the PDs captured by the interview were then selected. Measurement models combining questionnaire and interview information were applied and were fitted using Mx. Whereas the heritability of Cluster B PDs assessed by interview was around .30, and around .40-.50 when assessed by self-report questionnaire, the heritability of the convergent latent factor, including information from both interview and self-report questionnaire was .69 for APD, .67 for BPD, .71 for NPD, and .63 for HPD. As is usually found for personality, the effect of shared-in families (familial) environment was zero. In conclusion, when both interview and self-report questionnaire are taken into account, the heritability of Cluster B PD appears to be in the upper range of previous findings for mental disorders.

  4. Heritability of physical activity traits in Brazilian families: the Baependi Heart Study.

    Science.gov (United States)

    Horimoto, Andréa R V R; Giolo, Suely R; Oliveira, Camila M; Alvim, Rafael O; Soler, Júlia P; de Andrade, Mariza; Krieger, José E; Pereira, Alexandre C

    2011-11-29

    It is commonly recognized that physical activity has familial aggregation; however, the genetic influences on physical activity phenotypes are not well characterized. This study aimed to (1) estimate the heritability of physical activity traits in Brazilian families; and (2) investigate whether genetic and environmental variance components contribute differently to the expression of these phenotypes in males and females. The sample that constitutes the Baependi Heart Study is comprised of 1,693 individuals in 95 Brazilian families. The phenotypes were self-reported in a questionnaire based on the WHO-MONICA instrument. Variance component approaches, implemented in the SOLAR (Sequential Oligogenic Linkage Analysis Routines) computer package, were applied to estimate the heritability and to evaluate the heterogeneity of variance components by gender on the studied phenotypes. The heritability estimates were intermediate (35%) for weekly physical activity among non-sedentary subjects (weekly PA_NS), and low (9-14%) for sedentarism, weekly physical activity (weekly PA), and level of daily physical activity (daily PA). Significant evidence for heterogeneity in variance components by gender was observed for the sedentarism and weekly PA phenotypes. No significant gender differences in genetic or environmental variance components were observed for the weekly PA_NS trait. The daily PA phenotype was predominantly influenced by environmental factors, with larger effects in males than in females. Heritability estimates for physical activity phenotypes in this sample of the Brazilian population were significant in both males and females, and varied from low to intermediate magnitude. Significant evidence for heterogeneity in variance components by gender was observed. These data add to the knowledge of the physical activity traits in the Brazilian study population, and are concordant with the notion of significant biological determination in active behavior.

  5. Heritability of volumetric brain changes and height in children entering puberty.

    Science.gov (United States)

    van Soelen, Inge L C; Brouwer, Rachel M; van Baal, G Caroline M; Schnack, Hugo G; Peper, Jiska S; Chen, Lei; Kahn, René S; Boomsma, Dorret I; Hulshoff Pol, Hilleke E

    2013-03-01

    The human brain undergoes structural changes in children entering puberty, while simultaneously children increase in height. It is not known if brain changes are under genetic control, and whether they are related to genetic factors influencing the amount of overall increase in height. Twins underwent magnetic resonance imaging brain scans at age 9 (N = 190) and 12 (N = 125). High heritability estimates were found at both ages for height and brain volumes (49-96%), and high genetic correlation between ages were observed (r(g) > 0.89). With increasing age, whole brain (+1.1%), cerebellum (+4.2%), cerebral white matter (+5.1%), and lateral ventricle (+9.4%) volumes increased, and third ventricle (-4.0%) and cerebral gray matter (-1.6%) volumes decreased. Children increased on average 13.8 cm in height (9.9%). Genetic influences on individual difference in volumetric brain and height changes were estimated, both within and across traits. The same genetic factors influenced both cerebral (20% heritable) and cerebellar volumetric changes (45%). Thus, the extent to which changes in cerebral and cerebellar volumes are heritable in children entering puberty are due to the same genes that influence change in both structures. The increase in height was heritable (73%), and not associated with cerebral volumetric change, but positively associated with cerebellar volume change (r(p) = 0.24). This association was explained by a genetic correlation (r(g) = 0.48) between height and cerebellar change. Brain and body each expand at their own pace and through separate genetic pathways. There are distinct genetic processes acting on structural brain development, which cannot be explained by genetic increase in height.

  6. Heritability and confirmation of genetic association studies for childhood asthma in twins.

    Science.gov (United States)

    Ullemar, V; Magnusson, P K E; Lundholm, C; Zettergren, A; Melén, E; Lichtenstein, P; Almqvist, C

    2016-02-01

    Although the genetics of asthma has been extensively studied using both quantitative and molecular genetic analysis methods, both approaches lack studies specific to the childhood phenotype and including other allergic diseases. This study aimed to give specific estimates for the heritability of childhood asthma and other allergic diseases, to attempt to replicate findings from genomewide association studies (GWAS) for childhood asthma and to test the same variants against other allergic diseases. In a cohort of 25 306 Swedish twins aged 9 or 12 years, data on asthma were available from parental interviews and population-based registers. The interviews also inquired about wheeze, hay fever, eczema, and food allergy. Through structural equation modeling, the heritability of all phenotypes was calculated. A subset of 10 075 twins was genotyped for 16 single nucleotide polymorphisms (SNPs) selected from previous GWAS; these were first tested for association with asthma and significant findings also against the other allergic diseases. The heritability of any childhood asthma was 0.82 (95% CI 0.79-0.85). For the other allergic diseases, the range was approximately 0.60-0.80. Associations for six SNPs with asthma were replicated, including rs2305480 in the GSDMB gene (OR 0.80, 95% CI 0.74-0.86, P = 1.5*10(-8) ; other significant associations all below P = 3.5*10(-4) ). Of these, only rs3771180 in IL1RL1 was associated with any other allergic disease (for hay fever, OR 0.64, 95% CI 0.53-0.77, P = 2.5*10(-6) ). Asthma and allergic diseases of childhood are highly heritable, and these high-risk genetic variants associated specifically with childhood asthma, except for one SNP shared with hay fever. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Heritable symbiosis: The advantages and perils of an evolutionary rabbit hole.

    Science.gov (United States)

    Bennett, Gordon M; Moran, Nancy A

    2015-08-18

    Many eukaryotes have obligate associations with microorganisms that are transmitted directly between generations. A model for heritable symbiosis is the association of aphids, a clade of sap-feeding insects, and Buchnera aphidicola, a gammaproteobacterium that colonized an aphid ancestor 150 million years ago and persists in almost all 5,000 aphid species. Symbiont acquisition enables evolutionary and ecological expansion; aphids are one of many insect groups that would not exist without heritable symbiosis. Receiving less attention are potential negative ramifications of symbiotic alliances. In the short run, symbionts impose metabolic costs. Over evolutionary time, hosts evolve dependence beyond the original benefits of the symbiosis. Symbiotic partners enter into an evolutionary spiral that leads to irreversible codependence and associated risks. Host adaptations to symbiosis (e.g., immune-system modification) may impose vulnerabilities. Symbiont genomes also continuously accumulate deleterious mutations, limiting their beneficial contributions and environmental tolerance. Finally, the fitness interests of obligate heritable symbionts are distinct from those of their hosts, leading to selfish tendencies. Thus, genes underlying the host-symbiont interface are predicted to follow a coevolutionary arms race, as observed for genes governing host-pathogen interactions. On the macroevolutionary scale, the rapid evolution of interacting symbiont and host genes is predicted to accelerate host speciation rates by generating genetic incompatibilities. However, degeneration of symbiont genomes may ultimately limit the ecological range of host species, potentially increasing extinction risk. Recent results for the aphid-Buchnera symbiosis and related systems illustrate that, whereas heritable symbiosis can expand ecological range and spur diversification, it also presents potential perils.

  8. Heritability of glutathione and related metabolites in stored red blood cells.

    Science.gov (United States)

    van 't Erve, Thomas J; Doskey, Claire M; Wagner, Brett A; Hess, John R; Darbro, Benjamin W; Ryckman, Kelli K; Murray, Jeffrey C; Raife, Thomas J; Buettner, Garry R

    2014-11-01

    Red blood cells (RBCs) collected for transfusion deteriorate during storage. This deterioration is termed the "RBC storage lesion." There is increasing concern over the safety, therapeutic efficacy, and toxicity of transfusing longer-stored units of blood. The severity of the RBC storage lesion is dependent on storage time and varies markedly between individuals. Oxidative damage is considered a significant factor in the development of the RBC storage lesion. In this study, the variability during storage and heritability of antioxidants and metabolites central to RBC integrity and function were investigated. In a classic twin study, we determined the heritability of glutathione (GSH), glutathione disulfide (GSSG), the status of the GSSG,2H(+)/2GSH couple (Ehc), and total glutathione (tGSH) in donated RBCs over 56 days of storage. Intracellular GSH and GSSG concentrations both decrease during storage (median net loss of 0.52 ± 0.63 mM (median ± SD) and 0.032 ± 0.107 mM, respectively, over 42 days). Taking into account the decline in pH, Ehc became more positive (oxidized) during storage (median net increase of 35 ± 16 mV). In our study population heritability estimates for GSH, GSSG, tGSH, and Ehc measured over 56 days of storage are 79, 60, 67, and, 75%, respectively. We conclude that susceptibility of stored RBCs to oxidative injury due to variations in the GSH redox buffer is highly variable among individual donors and strongly heritable. Identifying the genes that regulate the storage-related changes in this redox buffer could lead to the development of new methods to minimize the RBC storage lesion.

  9. Heritability of Sex Tendency in a Harpacticoid Copepod, Tigriopus californicus

    OpenAIRE

    Voordouw, Maarten J; Anholt, Bradley R.

    2011-01-01

    Systems with genetic variation for the primary sex ratio are important for testing sex-ratio theory and for understanding how this variation is maintained. Evidence is presented for heritable variation of the primary sex ratio in the harpacticoid copepod Tigriopus californicus. Variation in the primary sex ratio among families cannot be accounted for by Mendelian segregation of sex chromosomes. The covariance in sex phenotype between full-sibling clutches and between mothers and offspring sug...

  10. Heritability of physical activity traits in Brazilian families: the Baependi Heart Study

    Directory of Open Access Journals (Sweden)

    Horimoto Andréa RVR

    2011-11-01

    Full Text Available Abstract Background It is commonly recognized that physical activity has familial aggregation; however, the genetic influences on physical activity phenotypes are not well characterized. This study aimed to (1 estimate the heritability of physical activity traits in Brazilian families; and (2 investigate whether genetic and environmental variance components contribute differently to the expression of these phenotypes in males and females. Methods The sample that constitutes the Baependi Heart Study is comprised of 1,693 individuals in 95 Brazilian families. The phenotypes were self-reported in a questionnaire based on the WHO-MONICA instrument. Variance component approaches, implemented in the SOLAR (Sequential Oligogenic Linkage Analysis Routines computer package, were applied to estimate the heritability and to evaluate the heterogeneity of variance components by gender on the studied phenotypes. Results The heritability estimates were intermediate (35% for weekly physical activity among non-sedentary subjects (weekly PA_NS, and low (9-14% for sedentarism, weekly physical activity (weekly PA, and level of daily physical activity (daily PA. Significant evidence for heterogeneity in variance components by gender was observed for the sedentarism and weekly PA phenotypes. No significant gender differences in genetic or environmental variance components were observed for the weekly PA_NS trait. The daily PA phenotype was predominantly influenced by environmental factors, with larger effects in males than in females. Conclusions Heritability estimates for physical activity phenotypes in this sample of the Brazilian population were significant in both males and females, and varied from low to intermediate magnitude. Significant evidence for heterogeneity in variance components by gender was observed. These data add to the knowledge of the physical activity traits in the Brazilian study population, and are concordant with the notion of significant

  11. Heritability and fitness correlates of personality in the Ache, a natural-fertility population in Paraguay.

    Science.gov (United States)

    Bailey, Drew H; Walker, Robert S; Blomquist, Gregory E; Hill, Kim R; Hurtado, A Magdalena; Geary, David C

    2013-01-01

    The current study assessed the heritability of personality in a traditional natural-fertility population, the Ache of eastern Paraguay. Self-reports (n = 110) and other-reports (n = 66) on the commonly used Big Five Personality Inventory (i.e., extraversion, agreeableness, conscientiousness, neuroticism, openness) were collected. Self-reports did not support the Five Factor Model developed with Western samples, and did not correlate with other-reports for three of the five measured personality factors. Heritability was assessed using factors that were consistent across self- and other-reports and factors assessed using other-reports that showed reliabilities similar to those found in Western samples. Analyses of these items in combination with a multi-generation pedigree (n = 2,132) revealed heritability estimates similar to those found in most Western samples, although we were not able to separately estimate the influence of the common environment on these traits. We also assessed relations between personality and reproductive success (RS), allowing for a test of several mechanisms that might be maintaining heritable variation in personality. Phenotypic analyses, based largely on other-reports, revealed that extraverted men had higher RS than other men, but no other dimensions of personality predicted RS in either sex. Mothers with more agreeable children had more children, and parents mated assortatively on personality. Of the evolutionary processes proposed to maintain variation in personality, assortative mating, selective neutrality, and temporal variation in selection pressures received the most support. However, the current study does not rule out other processes affecting the evolution and maintenance of individual differences in human personality.

  12. Heritability and prevalence of selected osteochondrosis lesions in yearling Thoroughbred horses.

    Science.gov (United States)

    Russell, J; Matika, O; Russell, T; Reardon, R J M

    2017-05-01

    Osteochondrosis is considered multifactorial in origin, with factors such as nutrition, conformation, body size, trauma and genetics thought to contribute to its pathogenesis. Few studies have investigated the effects of genetic variability of osteochondrosis in Thoroughbreds. To describe the prevalence and genetic variability of a subset of osteochondrosis lesions in a group of Thoroughbred yearlings. Retrospective cohort study. Radiographs of 1962 Thoroughbred yearlings were retrieved from clinical records obtained between 2005 and 2013. Pedigree information was obtained from the Australian Stud Book. Osteochondrosis lesions were documented in selected joints and estimates of heritability were obtained by fitting linear mixed models in ASREML software. The overall prevalence of osteochondrosis was 23%. Osteochondrosis was identified in 10% of stifle joints, 6% of hock joints and 8% of fetlock joints. The heritability estimates ranged from 0 to 0.21. The largest estimates were 0.10, 0.14, 0.16 and 0.21 for lesions of the distal intermediate ridge of the tibia, dorso-proximal proximal phalanx (P1), any stifle osteochondrosis, and lesions of the lateral trochlear ridge of the distal femur, respectively. Although calculated heritability estimates had high standard errors, meta-analyses combining the present results with published estimates were significant at 0.10, 0.17, 0.15 and 0.20 for stifle, tarsal, fetlock and these joints combined, respectively. In addition, there was a permanent environment attributable to the dam effect. Inclusion criteria were based on radiographic findings in specific joints at a specific age range in Thoroughbreds. The present results indicate that only a proportion of osteochondrosis in Thoroughbreds is heritable. The permanent environment effects of the dam were observed to have effects on some categories of osteochondrosis. © 2016 The Authors. Equine Veterinary Journal published by John Wiley & Sons Ltd on behalf of EVJ Ltd.

  13. Heritable influences on amygdala and orbitofrontal cortex contribute to genetic variation in core dimensions of personality.

    Science.gov (United States)

    Lewis, G J; Panizzon, M S; Eyler, L; Fennema-Notestine, C; Chen, C-H; Neale, M C; Jernigan, T L; Lyons, M J; Dale, A M; Kremen, W S; Franz, C E

    2014-12-01

    While many studies have reported that individual differences in personality traits are genetically influenced, the neurobiological bases mediating these influences have not yet been well characterized. To advance understanding concerning the pathway from genetic variation to personality, here we examined whether measures of heritable variation in neuroanatomical size in candidate regions (amygdala and medial orbitofrontal cortex) were associated with heritable effects on personality. A sample of 486 middle-aged (mean=55 years) male twins (complete MZ pairs=120; complete DZ pairs=84) underwent structural brain scans and also completed measures of two core domains of personality: positive and negative emotionality. After adjusting for estimated intracranial volume, significant phenotypic (r(p)) and genetic (r(g)) correlations were observed between left amygdala volume and positive emotionality (r(p)=.16, porbitofrontal cortex thickness and negative emotionality were also observed (r(g)=.34, p<.01; r(e)=-.19, p<.05, respectively). These findings support a model positing that heritable bases of personality are, at least in part, mediated through individual differences in the size of brain structures, although further work is still required to confirm this causal interpretation.

  14. Child food neophobia is heritable, associated with less compliant eating, and moderates familial resemblance for BMI.

    Science.gov (United States)

    Faith, Myles S; Heo, Moonseong; Keller, Kathleen L; Pietrobelli, Angelo

    2013-08-01

    The heritability of food neophobia, the tendency to avoid new foods, was tested in 4-7-year-old twins. We also examined whether food neophobia is associated with parent-child feeding relations or child body fat. 66 same-sex twin pairs, including 37 monozygotic (MZ) and 29 dizygotic (DZ) pairs were studied. Food neophobia was assessed by parent questionnaire (Child Food Neophobia Scale, CFNS), as were child-feeding practices and "division of responsibility" feeding relations. Child anthropometry and percent body fat were directly measured. MZ and DZ twin pair correlations for food neophobia were r = 0.71 and r = -0.01, respectively: heritability= 72%. Greater food neophobia was associated with reduced child eating compliance of prompted foods (P foods (P food demands (P = 0.01). Interestingly, the correlation between maternal BMI and child BMI z-score was significant only for children high (P = 0.03), but not low (P = 0.55), in food neophobia. Child food neophobia, a highly heritable trait previously linked to emotionality, was associated with less compliant parent-child feeding relations. Strategies to combat food neophobia and foster more harmonious feeding relationships may have a role in obesity prevention. Copyright © 2013 The Obesity Society.

  15. Heritability of word recognition in middle-aged men varies as a function of parental education.

    Science.gov (United States)

    Kremen, William S; Jacobson, Kristen C; Xian, Hong; Eisen, Seth A; Waterman, Brian; Toomey, Rosemary; Neale, Michael C; Tsuang, Ming T; Lyons, Michael J

    2005-07-01

    Although it is of lifelong importance, reading ability is studied primarily in children and adolescents. We examined variation in word recognition in 347 middle-aged male twin pairs. Overall heritability (a2) was 0.45, and shared environmental influences (c2) were 0.28. However, parental education moderated heritability such that a2 was 0.21 at the lowest parental education level and 0.69 at the highest level; c2 was 0.52 and 0.00, respectively. This constitutes a parental education x environment interaction. The higher heritability was due to a decrease in the magnitude of shared environmental factors, rather than an increase in the magnitude of genetic factors. Other cognitive studies have reported gene x environment interactions, but patterns may differ as a function of age or specific cognitive abilities. Our results suggest that shared environmental factors in families with low parental education have long-lasting effects on word recognition ability, well beyond any critical period for developing reading proficiency.

  16. Personality Traits in Rhesus Macaques (Macaca mulatta) Are Heritable but Do Not Predict Reproductive Output.

    Science.gov (United States)

    Brent, Lauren J N; Semple, Stuart; Maclarnon, Ann; Ruiz-Lambides, Angelina; Gonzalez-Martinez, Janis; Platt, Michael L

    2014-02-01

    There is growing evidence that behavioral tendencies, or "personalities," in animals are an important aspect of their biology, yet their evolutionary basis is poorly understood. Specifically, how individual variation in personality arises and is subsequently maintained by selection remains unclear. To address this gap, studies of personality require explicit incorporation of genetic information. Here, we explored the genetic basis of personality in rhesus macaques by determining the heritability of personality components and by examining the fitness consequences of those components. We collected observational data for 108 adult females living in three social groups in a free-ranging population via focal animal sampling. We applied principal component analysis to nine spontaneously occurring behaviors and identified six putative personality components, which we named Meek, Bold, Aggressive, Passive, Loner, and Nervous. All components were repeatable and heritable, with heritability estimates ranging from 0.14 to 0.35. We found no evidence of an association with reproductive output, measured either by infant survival or by interbirth interval, for any of the personality components. This finding suggests either that personality does not have fitness-related consequences in this population or that selection has acted to reduce fitness-associated variation in personality.

  17. Heritability of the shape of subcortical brain structures in the general population

    Science.gov (United States)

    Roshchupkin, Gennady V.; Gutman, Boris A.; Vernooij, Meike W.; Jahanshad, Neda; Martin, Nicholas G.; Hofman, Albert; McMahon, Katie L.; van der Lee, Sven J.; van Duijn, Cornelia M.; de Zubicaray, Greig I.; Uitterlinden, André G.; Wright, Margaret J.; Niessen, Wiro J.; Thompson, Paul M.; Ikram, M. Arfan; Adams, Hieab H. H.

    2016-01-01

    The volumes of subcortical brain structures are highly heritable, but genetic underpinnings of their shape remain relatively obscure. Here we determine the relative contribution of genetic factors to individual variation in the shape of seven bilateral subcortical structures: the nucleus accumbens, amygdala, caudate, hippocampus, pallidum, putamen and thalamus. In 3,686 unrelated individuals aged between 45 and 98 years, brain magnetic resonance imaging and genotyping was performed. The maximal heritability of shape varies from 32.7 to 53.3% across the subcortical structures. Genetic contributions to shape extend beyond influences on intracranial volume and the gross volume of the respective structure. The regional variance in heritability was related to the reliability of the measurements, but could not be accounted for by technical factors only. These findings could be replicated in an independent sample of 1,040 twins. Differences in genetic contributions within a single region reveal the value of refined brain maps to appreciate the genetic complexity of brain structures. PMID:27976715

  18. An experimental analysis of the heritability of variation in glucocorticoid concentrations in a wild avian population

    Science.gov (United States)

    Jenkins, Brittany R.; Vitousek, Maren N.; Hubbard, Joanna K.; Safran, Rebecca J.

    2014-01-01

    Glucocorticoid hormones (CORT) are predicted to promote adaptation to variable environments, yet little is known about the potential for CORT secretion patterns to respond to selection in free-living populations. We assessed the heritable variation underlying differences in hormonal phenotypes using a cross-foster experimental design with nestling North American barn swallows (Hirundo rustica erythrogaster). Using a bivariate animal model, we partitioned variance in baseline and stress-induced CORT concentrations into their additive genetic and rearing environment components and estimated their genetic correlation. Both baseline and stress-induced CORT were heritable with heritability of 0.152 and 0.343, respectively. We found that the variation in baseline CORT was best explained by rearing environment, whereas the variation in stress-induced CORT was contributed to by a combination of genetic and environmental factors. Further, we did not detect a genetic correlation between these two hormonal traits. Although rearing environment appears to play an important role in the secretion of both types of CORT, our results suggest that stress-induced CORT levels are underlain by greater additive genetic variance compared with baseline CORT levels. Accordingly, we infer that the glucocorticoid response to stress has a greater potential for evolutionary change in response to selection compared with baseline glucocorticoid secretion patterns. PMID:25056627

  19. An experimental analysis of the heritability of variation in glucocorticoid concentrations in a wild avian population.

    Science.gov (United States)

    Jenkins, Brittany R; Vitousek, Maren N; Hubbard, Joanna K; Safran, Rebecca J

    2014-09-01

    Glucocorticoid hormones (CORT) are predicted to promote adaptation to variable environments, yet little is known about the potential for CORT secretion patterns to respond to selection in free-living populations. We assessed the heritable variation underlying differences in hormonal phenotypes using a cross-foster experimental design with nestling North American barn swallows (Hirundo rustica erythrogaster). Using a bivariate animal model, we partitioned variance in baseline and stress-induced CORT concentrations into their additive genetic and rearing environment components and estimated their genetic correlation. Both baseline and stress-induced CORT were heritable with heritability of 0.152 and 0.343, respectively. We found that the variation in baseline CORT was best explained by rearing environment, whereas the variation in stress-induced CORT was contributed to by a combination of genetic and environmental factors. Further, we did not detect a genetic correlation between these two hormonal traits. Although rearing environment appears to play an important role in the secretion of both types of CORT, our results suggest that stress-induced CORT levels are underlain by greater additive genetic variance compared with baseline CORT levels. Accordingly, we infer that the glucocorticoid response to stress has a greater potential for evolutionary change in response to selection compared with baseline glucocorticoid secretion patterns.

  20. The heritable basis of gene-environment interactions in cardiometabolic traits.

    Science.gov (United States)

    Poveda, Alaitz; Chen, Yan; Brändström, Anders; Engberg, Elisabeth; Hallmans, Göran; Johansson, Ingegerd; Renström, Frida; Kurbasic, Azra; Franks, Paul W

    2017-03-01

    Little is known about the heritable basis of gene-environment interactions in humans. We therefore screened multiple cardiometabolic traits to assess the probability that they are influenced by genotype-environment interactions. Fourteen established environmental risk exposures and 11 cardiometabolic traits were analysed in the VIKING study, a cohort of 16,430 Swedish adults from 1682 extended pedigrees with available detailed genealogical, phenotypic and demographic information, using a maximum likelihood variance decomposition method in Sequential Oligogenic Linkage Analysis Routines software. All cardiometabolic traits had statistically significant heritability estimates, with narrow-sense heritabilities (h (2)) ranging from 24% to 47%. Genotype-environment interactions were detected for age and sex (for the majority of traits), physical activity (for triacylglycerols, 2 h glucose and diastolic BP), smoking (for weight), alcohol intake (for weight, BMI and 2 h glucose) and diet pattern (for weight, BMI, glycaemic traits and systolic BP). Genotype-age interactions for weight and systolic BP, genotype-sex interactions for BMI and triacylglycerols and genotype-alcohol intake interactions for weight remained significant after multiple test correction. Age, sex and alcohol intake are likely to be major modifiers of genetic effects for a range of cardiometabolic traits. This information may prove valuable for studies that seek to identify specific loci that modify the effects of lifestyle in cardiometabolic disease.

  1. Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD.

    Science.gov (United States)

    Guo, W; Samuels, J F; Wang, Y; Cao, H; Ritter, M; Nestadt, P S; Krasnow, J; Greenberg, B D; Fyer, A J; McCracken, J T; Geller, D A; Murphy, D L; Knowles, J A; Grados, M A; Riddle, M A; Rasmussen, S A; McLaughlin, N C; Nurmi, E L; Askland, K D; Cullen, B A; Piacentini, J; Pauls, D L; Bienvenu, O J; Stewart, S E; Goes, F S; Maher, B; Pulver, A E; Valle, D; Mattheisen, M; Qian, J; Nestadt, G; Shugart, Y Y

    2017-07-01

    Obsessive-compulsive disorder (OCD) and Autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders that conceivably share genetic risk factors. However, the underlying genetic determinants remain largely unknown. In this work, the authors describe a combined genome-wide association study (GWAS) of ASD and OCD. The OCD dataset includes 2998 individuals in nuclear families. The ASD dataset includes 6898 individuals in case-parents trios. GWAS summary statistics were examined for potential enrichment of functional variants associated with gene expression levels in brain regions. The top ranked SNP is rs4785741 (chromosome 16) with P value=6.9×10(-7) in our re-analysis. Polygenic risk score analyses were conducted to investigate the genetic relationship within and across the two disorders. These analyses identified a significant polygenic component of ASD, predicting 0.11% of the phenotypic variance in an independent OCD data set. In addition, we examined the genomic architecture of ASD and OCD by estimating heritability on different chromosomes and different allele frequencies, analyzing genome-wide common variant data by using the Genome-wide Complex Trait Analysis (GCTA) program. The estimated global heritability of OCD is 0.427 (se=0.093) and 0.174 (se=0.053) for ASD in these imputed data. Published by Elsevier B.V.

  2. Heritability of Renal Function and Inflammatory Markers in Adult Male Twins

    Science.gov (United States)

    Raggi, Paolo; Su, Shaoyong; Karohl, Cristina; Veledar, Emir; Rojas-Campos, Enrique; Vaccarino, Viola

    2010-01-01

    Background Loss of renal function is accompanied by a progressive increase in markers of inflammation; it is unknown whether they share common genetic pathways. Study Design We evaluated the shared heritability of estimated glomerular filtration rate (eGFR) and markers of inflammation and endothelial activation in 524 twin males from the Vietnam Era Twin Registry; 9 twins were excluded due to incomplete or incorrect data. Models were adjusted for age, race, body mass index, smoking, hypertension, diabetes mellitus, prior coronary artery disease and intercurrent medications. Results The mean eGFR was 89 ± 13 ml/min/1.73 m2 (range 35–146); eGFR, intracellular adhesion molecule (ICAM) and TNF-α receptor (TNF-αR) were moderately heritable (all ∼50%), while IL-6 receptor (IL-6R) and P-selectin were highly heritable (68 and 76%, respectively). IL-6R and TNF-αR showed a significant inverse association with eGFR (p = 0.04 and p renal function and inflammation. Thus, increased inflammation represents a response to declining renal function rather than being a mechanism contributing to renal deterioration. PMID:20720405

  3. Variance components and heritabilities for sow productivity traits estimated from purebred versus crossbred sows.

    Science.gov (United States)

    Ehlers, M J; Mabry, J W; Bertrand, J K; Stalder, K J

    2005-10-01

    Genetic parameters were estimated for number of pigs born alive (NBA), adjusted litter weaning weight (ALWT), and the interval from weaning to first service (W2E) using 2002 purebred litter records and 14 583 crossbred litter records from a swine production unit with a defined great-grandparent, grandparent, and parent stock genetic system structure. Estimation of (co)variance components was carried out by REML methods. Heritability estimates from this study for NBA were 0.155, 0.146, 0.145 for the purebred, crossbred, and pooled data, respectively. Heritability estimates for ALWT were 0.162, 0.195, and 0.183 for the purebred, crossbred and pooled data, respectively. Heritability estimates for W2E were 0.205, 0.239 and 0.202 for the purebred, crossbred and pooled data, respectively. Genetic correlations between NBA and ALWT were weak and positive for the three groups. The genetic correlation between W2E and ALWT were -0.158 for the purebred Yorkshires, 0.031 for the crossbreds and 0.051 for the pooled data. The genetic correlation between W2E and NBA was -0.027 for the purebred Yorkshires, 0.310 for the crossbreds and 0.236 for the pooled data. These similarities suggest that pooling of purebred and crossbred data may be considered, which may potentially increase the accuracy of breeding value estimates, which would result in increased genetic progress.

  4. Heritable genome editing with CRISPR/Cas9 in the silkworm, Bombyx mori.

    Directory of Open Access Journals (Sweden)

    Wei Wei

    Full Text Available We report the establishment of an efficient and heritable gene mutagenesis method in the silkworm Bombyx mori using modified type II clustered regularly interspaced short palindromic repeats (CRISPR with an associated protein (Cas9 system. Using four loci Bm-ok, BmKMO, BmTH, and Bmtan as candidates, we proved that genome alterations at specific sites could be induced by direct microinjection of specific guide RNA and Cas9-mRNA into silkworm embryos. Mutation frequencies of 16.7-35.0% were observed in the injected generation, and DNA fragments deletions were also noted. Bm-ok mosaic mutants were used to test for mutant heritability due to the easily determined translucent epidermal phenotype of Bm-ok-disrupted cells. Two crossing strategies were used. In the first, injected Bm-ok moths were crossed with wild-type moths, and a 28.6% frequency of germline mutation transmission was observed. In the second strategy, two Bm-ok mosaic mutant moths were crossed with each other, and 93.6% of the offsprings appeared mutations in both alleles of Bm-ok gene (compound heterozygous. In summary, the CRISPR/Cas9 system can act as a highly specific and heritable gene-editing tool in Bombyx mori.

  5. Heritabilities and genetic trends for reproductive traits in a population of Romosinuano cattle in Colombia

    Directory of Open Access Journals (Sweden)

    Oscar Vergara G.

    2015-12-01

    Full Text Available Objective. The aim of this study was to estimate heritabilities and genetic trends for reproductive traits in a beef cattle population Romosinuano. Material and methods. Age at first calving (AFC, first calving interval (FCI, and second calving interval (SCI were evaluated from a database generated from 1951 to 2011 by Research Center Turipana. Unicaracter animal model was used, which included fixed of contemporary group (year-season, random direct genetic additives effects and residual. Estimates of variance components and genetic parameters were obtained through Restricted Maximum Likelihood procedure, using AIREMLF90 program. Genetic trends were calculated as a linear regression of weighted averages of breeding values over the years, using the REG procedure of Statistical Analysis System. Results. The indices of heritability for additive genetic effects were 0.04 ± 0.05 for AFC, 0.06 ± 0.06 for FCI, and 0.09 ± 0.06 for SCI. Conclusions. Low heritabilities indicating that should improve nutritional and management conditions in the herd, so that they can better express the traits evaluated. The estimated genetic trends were near zero, which shows that the objective of the CI Turipaná regarding this population has complied fully preserving the genetic variability of the breed Romosinuano.

  6. Heritability of body weight and resistance to ammonia in the Pacific white shrimp Litopenaeus vannamei juveniles

    Science.gov (United States)

    Li, Wenjia; Lu, Xia; Luan, Sheng; Luo, Kun; Sui, Juan; Kong, Jie

    2016-09-01

    Ammonia, toxic to aquaculture organisms, represents a potential problem in aquaculture systems, and the situation is exacerbated in closed and intensive shrimp farming operations, expecially for Litopenaeus vannamei. Assessing the potential for the genetic improvement of resistance to ammonia in L. vannamei requires knowledge of the genetic parameters of this trait. The heritability of resistance to ammonia was estimated using two descriptors in the present study: the survival time (ST) and the survival status at half lethal time (SS50) for each individual under high ammonia challenge. The heritability of ST and SS50 were low (0.154 4±0.044 6 and 0.147 5±0.040 0, respectively), but they were both significantly different from zero ( P0.05), suggesting that ST and SS50 could be used as suitable indicators for resistance to ammonia. There were also positive phenotypic and genetic correlation between resistance to ammonia and body weight, which means that resistance to ammonia can be enhanced by the improvement of husbandry practices that increase the body weight. The results from the present study suggest that the selection for higher body weight does not have any negative consequences for resistance to ammonia. In addition to quantitative genetics, tools from molecular genetics can be applied to selective breeding programs to improve the efficiency of selection for traits with low heritability.

  7. Estimating heritability of wool shedding in a cross-bred ewe population.

    Science.gov (United States)

    Vargas Jurado, N; Leymaster, K A; Kuehn, L A; Lewis, R M

    2016-10-01

    Low wool prices and high production costs in sheep systems have resulted in the introduction of genotypes that shed wool into flocks to reduce shearing costs. Wool shedding occurs naturally in a few breeds and can be incorporated by cross-breeding. The opportunity to enhance shedding through selection depends on the extent of genetic variability present. Genetic and environmental parameters for wool shedding for ewes from a three-breed composite population were estimated using Bayesian inference. Data on 2025 cross-bred ewes, including 3345 wool shedding scores (WS) and 1647 breeding weight (BW) records, were analysed using bivariate and, for WS, univariate animal repeatability models. Breeding weight was included to account for possible selection bias. Breeding weight was moderately heritable and highly repeatable with means of 0.317 and 0.724, respectively. Under both models, WS was found to be moderately heritable and repeatable with means of 0.256 and 0.399, respectively. Based on a cumulative link model and contingency table analysis, age and reproductive activity influenced the extent of WS (p < 0.05). Given that WS is moderately heritable, selective gain in WS can be achieved.

  8. Heritability of audiometric shape parameters and familial aggregation of presbycusis in an elderly Flemish population.

    Science.gov (United States)

    Demeester, Kelly; van Wieringen, Astrid; Hendrickx, Jan-jaap; Topsakal, Vedat; Huyghe, Jeroen; Fransen, Erik; Van Laer, Lut; Van Camp, Guy; Van de Heyning, Paul

    2010-06-14

    This study describes the heritability of audiometric shape parameters and the familial aggregation of different types of presbycusis in a healthy, otologically screened population between 50 and 75 years old. About 342 siblings of 64 families (average family-size: 5.3) were recruited through population registries. Audiometric shape was mathematically quantified by objective parameters developed to measure size, slope, concavity, percentage of frequency-dependent and frequency-independent hearing loss and Bulge Depth. The heritability of each parameter was calculated using a variance components model. Logistic regression models were used to estimate the odds ratios (ORs). Estimates of sibling recurrence risk ratios (lambda(s)) are also provided. Heritability estimates were generally higher compared to previous studies. ORs and lambda(s) for the parameters Total Hearing Loss (size), Uniform Hearing Loss (percentage of frequency-dependent hearing loss) and Bulge Depth suggest a higher heredity for severe types of presbycusis compared to moderate or mild types. Our results suggest that the separation of the parameter 'Total Hearing Loss' into the two parameters 'Uniform Hearing Loss' and 'Non-uniform Hearing Loss' could lead to the discovery of different genetic subtypes of presbycusis. The parameter 'Bulge Depth', instead of 'Concavity', seemed to be an important parameter for classifying subjects into 'susceptible' or 'resistant' to societal or intensive environmental exposure.

  9. Heritable alteration of DNA methylation induced by whole-chromosome aneuploidy in wheat.

    Science.gov (United States)

    Gao, Lihong; Diarso, Moussa; Zhang, Ai; Zhang, Huakun; Dong, Yuzhu; Liu, Lixia; Lv, Zhenling; Liu, Bao

    2016-01-01

    Aneuploidy causes changes in gene expression and phenotypes in all organisms studied. A previous study in the model plant Arabidopsis thaliana showed that aneuploidy-generated phenotypic changes can be inherited to euploid progenies and implicated an epigenetic underpinning of the heritable variations. Based on an analysis by amplified fragment length polymorphism and methylation-sensitive amplified fragment length polymorphism markers, we found that although genetic changes at the nucleotide sequence level were negligible, extensive changes in cytosine DNA methylation patterns occurred in all studied homeologous group 1 whole-chromosome aneuploid lines of common wheat (Triticum aestivum), with monosomic 1A showing the greatest amount of methylation changes. The changed methylation patterns were inherited by euploid progenies derived from the aneuploid parents. The aneuploidy-induced DNA methylation alterations and their heritability were verified at selected loci by bisulfite sequencing. Our data have provided empirical evidence supporting earlier suggestions that heritability of aneuploidy-generated, but aneuploidy-independent, phenotypic variations may have an epigenetic basis. That at least one type of aneuploidy - monosomic 1A - was able to cause significant epigenetic divergence of the aneuploid plants and their euploid progenies also lends support to recent suggestions that aneuploidy may have played an important and protracted role in polyploid genome evolution.

  10. Heritability of shoulder ulcers and genetic correlations with mean piglet weight and sow body condition.

    Science.gov (United States)

    Lundgren, H; Zumbach, B; Lundeheim, N; Grandinson, K; Vangen, O; Olsen, D; Rydhmer, L

    2012-01-01

    The objective of this paper was to estimate the heritability for shoulder ulcers and the genetic correlations between shoulder ulcers, mean piglet weight and sow body condition. The analyses were based on information on 5549 Norwegian Landrace sows and their 7614 purebred litters. The genetic analysis was performed using the Gibbs sampling method. Shoulder ulcers were analyzed as a threshold trait. Sow body condition and mean piglet weight were analyzed as linear traits. The heritability of shoulder ulcers was estimated at 0.25 (s.d. = 0.03). The heritability for sow body condition was estimated at 0.14 (s.d. = 0.02) and that for mean piglet weight at 0.23 (s.d. = 0.02). The genetic correlation between shoulder ulcers and sow body condition was negative (-0.59, s.d. = 0.09). The genetic correlation between shoulder ulcers and mean piglet weight was positive (0.23, s.d. = 0.10) and the genetic correlation between sow body condition and mean piglet weight was negative (-0.24, s.d. = 0.10).

  11. Heritability of problem drinking and the genetic overlap with personality in a general population sample

    Directory of Open Access Journals (Sweden)

    Marleen H.M. De Moor

    2011-11-01

    Full Text Available This study examined the heritability of problem drinking and investigated the phenotypic and genetic relationships between problem drinking and personality. It was conducted in a sample of 5,870 twins and siblings and 4,420 additional family members from the Netherlands Twin Register. Data on problem drinking (assessed with the AUDIT and CAGE; 12 items and personality (NEO-FFI; 60 items were collected in 2009/2010 through surveys. Factor analysis on the AUDIT and CAGE items showed that the items clustered on two separate but highly correlated (r=0.74 underlying factors. A higher order factor was extracted that reflected those aspects of problem drinking that are common to the AUDIT and CAGE , which showed a heritability of 40%. The correlations between problem drinking and the five dimensions of personality were small but significant, ranging from 0.06 for Extraversion to -0.12 for Conscientiousness. All personality dimensions (with broad-sense heritabilities between 32% and 55%, and some evidence for non-additive genetic influences were genetically correlated with problem drinking. The genetic correlations were small to modest (between |0.12-0.41|. Future studies with longitudinal data and DNA polymorphisms are needed to determine the biological mechanisms that underlie the genetic link between problem drinking and personality.

  12. Diversity and heritability of the maize rhizosphere microbiome under field conditions.

    Science.gov (United States)

    Peiffer, Jason A; Spor, Aymé; Koren, Omry; Jin, Zhao; Tringe, Susannah Green; Dangl, Jeffery L; Buckler, Edward S; Ley, Ruth E

    2013-04-16

    The rhizosphere is a critical interface supporting the exchange of resources between plants and their associated soil environment. Rhizosphere microbial diversity is influenced by the physical and chemical properties of the rhizosphere, some of which are determined by the genetics of the host plant. However, within a plant species, the impact of genetic variation on the composition of the microbiota is poorly understood. Here, we characterized the rhizosphere bacterial diversity of 27 modern maize inbreds possessing exceptional genetic diversity grown under field conditions. Randomized and replicated plots of the inbreds were planted in five field environments in three states, each with unique soils and management conditions. Using pyrosequencing of bacterial 16S rRNA genes, we observed substantial variation in bacterial richness, diversity, and relative abundances of taxa between bulk soil and the maize rhizosphere, as well as between fields. The rhizospheres from maize inbreds exhibited both a small but significant proportion of heritable variation in total bacterial diversity across fields, and substantially more heritable variation between replicates of the inbreds within each field. The results of this study should facilitate expanded studies to identify robust heritable plant-microbe interactions at the level of individual polymorphisms by genome wide association, so that plant-microbiome interactions can ultimately be incorporated into plant breeding.

  13. Heritability of Stroop and flanker performance in 12-year old children

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    Polderman Tinca JC

    2004-12-01

    Full Text Available Abstract Background There is great interest in appropriate phenotypes that serve as indicator of genetically transmitted frontal (dysfunction, such as ADHD. Here we investigate the ability to deal with response conflict, and we ask to what extent performance variation on response interference tasks is caused by genetic variation. We tested a large sample of 12-year old monozygotic and dizygotic twins on two well-known and closely related response interference tasks; the color Stroop task and the Eriksen flanker task. Using structural equation modelling we assessed the heritability of several performance indices derived from those tasks. Results In the Stroop task we found high heritabilities of overall reaction time and – more important – Stroop interference (h2 = nearly 50 %. In contrast, we found little evidence of heritability on flanker performance. For both tasks no effects of sex on performance variation were found. Conclusions These results suggest that normal variation in Stroop performance is influenced by underlying genetic variation. Given that Stroop performance is often hampered not only in people suffering from frontal dysfunction, but also in their unaffected relatives, we conclude that this variable may constitute a suitable endophenotype for future genetic studies. We discuss several reasons for the absence of genetic effects on the flanker task.

  14. Heritable influences on amygdala and orbitofrontal cortex contribute to genetic variation in core dimensions of personality

    Science.gov (United States)

    Lewis, G.J.; Panizzon, M.S.; Eyler, L.; Fennema-Notestine, C.; Chen, C.-H.; Neale, M.C.; Jernigan, T.L.; Lyons, M.J.; Dale, A.M.; Kremen, W.S.; Franz, C.E.

    2015-01-01

    While many studies have reported that individual differences in personality traits are genetically influenced, the neurobiological bases mediating these influences have not yet been well characterized. To advance understanding concerning the pathway from genetic variation to personality, here we examined whether measures of heritable variation in neuroanatomical size in candidate regions (amygdala and medial orbitofrontal cortex) were associated with heritable effects on personality. A sample of 486 middle-aged (mean = 55 years) male twins (complete MZ pairs = 120; complete DZ pairs = 84) underwent structural brain scans and also completed measures of two core domains of personality: positive and negative emotionality. After adjusting for estimated intracranial volume, significant phenotypic (rp) and genetic (rg) correlations were observed between left amygdala volume and positive emotionality (rp = .16, p < .01; rg = .23, p < .05, respectively). In addition, after adjusting for mean cortical thickness, genetic and nonshared-environmental correlations (re) between left medial orbitofrontal cortex thickness and negative emotionality were also observed (rg = .34, p < .01; re = −.19, p < .05, respectively). These findings support a model positing that heritable bases of personality are, at least in part, mediated through individual differences in the size of brain structures, although further work is still required to confirm this causal interpretation. PMID:25263286

  15. On the nature and nurture of intelligence and specific cognitive abilities: the more heritable, the more culture dependent.

    Science.gov (United States)

    Kan, Kees-Jan; Wicherts, Jelte M; Dolan, Conor V; van der Maas, Han L J

    2013-12-01

    To further knowledge concerning the nature and nurture of intelligence, we scrutinized how heritability coefficients vary across specific cognitive abilities both theoretically and empirically. Data from 23 twin studies (combined N = 7,852) showed that (a) in adult samples, culture-loaded subtests tend to demonstrate greater heritability coefficients than do culture-reduced subtests; and (b) in samples of both adults and children, a subtest's proportion of variance shared with general intelligence is a function of its cultural load. These findings require an explanation because they do not follow from mainstream theories of intelligence. The findings are consistent with our hypothesis that heritability coefficients differ across cognitive abilities as a result of differences in the contribution of genotype-environment covariance. The counterintuitive finding that the most heritable abilities are the most culture-dependent abilities sheds a new light on the long-standing nature-nurture debate of intelligence.

  16. Synthesis and Anti-hyperlipidemic Activity of 3H-benzo [4, 5] thieno [2, 3-d] [1, 2, 3] triazin-4-ones: Possible Mechanism of Altered Lipid Metabolism

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    Gollapalle L. Viswanatha

    2012-09-01

    Full Text Available Objectives: The present study was aimed to evaluate the anti-hyperlipidemic activity of newly synthesized tricyclic benzothieno 1, 2, 3-triazine derivatives namely CP-1 (3-(methyl-5,6,7,8-tetrahydro,3H-benzo[4,5] thieno [2,3-d][1,2,3] triazin-4-one, CP-2 (3-(ethyl- 5,6,7,8-tetrahydro,3H-benzo[4,5] thieno[2,3-d][1,2,3] triazin-4-one and CP-6 (3-(2-chloro phenyl-5,6,7,8-tetrahydro,3H-benzo[4,5] thieno [2,3-d][1,2,3] triazin-4-one against dexamethasone and Triton WR-1339-induced hyper-lipidemia in rats.Methods: Anti-hyperlipidemic activity of the test compounds were evaluated against dexamethasone (10 mg/kg, subcutaneous [s.c.] and Triton WR-1339 (200 mg/kg, intraperitoneal [i.p] induced hyperlipidemia in rats.Results: Administration of single dose of Triton WR-1339 (200 mg/kg i.p and dexamethasone (10 mg/kg s.c. for 8 consecutive days to adult wistar rats caused severe hyperlipidemia characterized by marked increase in serum cholesterol, LDL-C, VLDL-C and triglyceride levels along with an increase in atherogenic index. Serum HDL-C levels were decreased significantly compare to normal control. Pretreatment with Atorvastatin (10 mg/kg, p.o., CP-1 (25 & 50 mg/kg, CP-2 (25 & 50 mg/kg and CP-6 (25 & 50mg/kg showed significant and dose-dependent protection against dexamethasone and Triton WR-1339-induced hyperlipidemia in rats by maintaining serum total cholesterol, LDL-C, VLDL-C and HDL-C levels within the normal range. Also, a significant decrease in atherogenic index was observed. The anti-hyperlipidemic effect of CP-6 was comparable with reference standard Atorvastatin. Furthermore, CP-6 was found to be more potent than CP-1 and CP-2.Conclusion: These findings suggest that CP-1, CP-2 and CP-6 possess significant anti-hyperlipidemic activity against experimental animal models of hyperlipidemia.

  17. Heritability of ambulatory and beat-to-beat office blood pressure in large multigenerational Arab pedigrees: the 'Oman Family study'.

    Science.gov (United States)

    Albarwani, Sulayma; Muñoz, M Loretto; Voruganti, V Saroja; Jaju, Deepali; Al-Yahyaee, V Saeed; Rizvi, Syed G; Lopez-Alvarenga, Juan C; Al-Anqoudi, Zahir M; Bayoumi, Riad A; Comuzzie, Anthony G; Snieder, Harold; Hassan, Mohammed O

    2012-12-01

    To estimate the heritability of ambulatory blood pressure (BP), heart rate (HR), and beat-to-beat office BP and HR in an isolated, environmentally and genetically homogeneous Omani Arab population. Ambulatory BP measurements were recorded in 1,124 subjects with a mean age of 33.8 ± 16.2 years, using the auscultatory mode of the validated Schiller ambulatory BP Monitor. Beat-to-beat BP and HR were recorded by the Task Force Monitor. Heritability was estimated using quantitative genetic analysis. This was achieved by applying the maximum-likelihood-based variance decomposition method implemented in SOLAR software. We detected statistically significant heritability estimates for office beat-to-beat, 24-hour, daytime, and sleep HR of 0.31, 0.21, 0.20, and 0.07, respectively. Heritability estimates in the above mentioned conditions for systolic BP (SBP)/diastolic BP (DBP)/mean BP (MBP)were all significant and estimated at 0.19/0.19/0.19, 0.30/0.44/0.41, 0.28/0.38/0.39, and 0.21/0.18/0.20,respectively. Heritability estimates for 24-hour and daytime ambulatory SBP, DBP, and MBP ranged from 0.28 to 0.44, and were higher than the heritability estimates for beat-to-beat recordings and sleep periods,which were estimated within a narrow range of 0.18-0.21. In this cohort, because shared environments are common to all, the environmental influence that occurs is primarily due to the variation in non-shared environment that is unique to the individual. We demonstrated significant heritability estimates for both beat-to-beat office and ambulatory BP and HR recordings, but 24-hour and daytime ambulatory heritabilities are higher than those from beat-to-beat resting levels and ambulatory night-time recordings.

  18. Heritability of cardiovascular and personality traits in 6,148 Sardinians.

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    Giuseppe Pilia

    2006-08-01

    Full Text Available In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these family studies, especially when comparing heritability between subgroups such as young and old, or males and females. We recruited a cohort of 6,148 participants, aged 14-102 y, from four clustered towns in Sardinia. The cohort includes 34,469 relative pairs. To extract genetic information, we implemented software for variance components heritability analysis, designed to handle large pedigrees, analyze multiple traits simultaneously, and model heterogeneity. Here, we report heritability analyses for 98 quantitative traits, focusing on facets of personality and cardiovascular function. We also summarize results of bivariate analyses for all pairs of traits and of heterogeneity analyses for each trait. We found a significant genetic component for every trait. On average, genetic effects explained 40% of the variance for 38 blood tests, 51% for five anthropometric measures, 25% for 20 measures of cardiovascular function, and 19% for 35 personality traits. Four traits showed significant evidence for an X-linked component. Bivariate analyses suggested overlapping genetic determinants for many traits, including multiple personality facets and several traits related to the metabolic syndrome; but we found no evidence for shared genetic determinants that might underlie the reported association of some personality traits and cardiovascular risk factors. Models allowing for heterogeneity suggested that, in this cohort, the genetic variance was typically larger in females and in younger individuals, but interesting exceptions were observed. For example, narrow heritability of blood pressure was approximately 26% in individuals more than 42 y old, but only approximately 8% in younger individuals. Despite the heterogeneity in effect sizes, the same loci appear to contribute to variance

  19. Heritability of Cardiovascular and Personality Traits in 6,148 Sardinians

    Science.gov (United States)

    Scuteri, Angelo; Orrú, Marco; Albai, Giuseppe; Dei, Mariano; Lai, Sandra; Usala, Gianluca; Lai, Monica; Loi, Paola; Mameli, Cinzia; Vacca, Loredana; Deiana, Manila; Olla, Nazario; Masala, Marco; Cao, Antonio; Najjar, Samer S; Terracciano, Antonio; Nedorezov, Timur; Sharov, Alexei; Zonderman, Alan B; Abecasis, Gonçalo R; Costa, Paul; Lakatta, Edward; Schlessinger, David

    2006-01-01

    In family studies, phenotypic similarities between relatives yield information on the overall contribution of genes to trait variation. Large samples are important for these family studies, especially when comparing heritability between subgroups such as young and old, or males and females. We recruited a cohort of 6,148 participants, aged 14–102 y, from four clustered towns in Sardinia. The cohort includes 34,469 relative pairs. To extract genetic information, we implemented software for variance components heritability analysis, designed to handle large pedigrees, analyze multiple traits simultaneously, and model heterogeneity. Here, we report heritability analyses for 98 quantitative traits, focusing on facets of personality and cardiovascular function. We also summarize results of bivariate analyses for all pairs of traits and of heterogeneity analyses for each trait. We found a significant genetic component for every trait. On average, genetic effects explained 40% of the variance for 38 blood tests, 51% for five anthropometric measures, 25% for 20 measures of cardiovascular function, and 19% for 35 personality traits. Four traits showed significant evidence for an X-linked component. Bivariate analyses suggested overlapping genetic determinants for many traits, including multiple personality facets and several traits related to the metabolic syndrome; but we found no evidence for shared genetic determinants that might underlie the reported association of some personality traits and cardiovascular risk factors. Models allowing for heterogeneity suggested that, in this cohort, the genetic variance was typically larger in females and in younger individuals, but interesting exceptions were observed. For example, narrow heritability of blood pressure was approximately 26% in individuals more than 42 y old, but only approximately 8% in younger individuals. Despite the heterogeneity in effect sizes, the same loci appear to contribute to variance in young and old

  20. Comparison between multitrait and unitrait analysis in the heritability estimate of electrical conductivity of milk

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    Daniella Flavia Vilas Boas

    2012-12-01

    Full Text Available Electrical conductivity of milk is an indirect method for diagnosis of mastitis that can be used as criterion of selection in breeding programs, to obtain more resistant animals to infection. Data from 9,302 records of electrical conductivity from the morning milking (ECM, 13,070 milk yield records (MY and 11,560 records of milking time (MT, of 1,129 first lactation Holstein cows, calving from 2001 to 2011, were used in statistical analysis. Data of eight herds of Southeast region of Brazil were obtained by the WESTFALIA® electronic milking machines, with “Dairyplan” management system. Two analysis were performed: a multitrait, including MY, MT and ECM, and an unitrait, considering only test-day morning electrical conductivity. The model included additive genetic, permanent environmental and residual effects as random. Additionally, contemporary groups (CG, the age of cow at calving (AGC and days in milk (DIM (linear and quadratic regression were included as fixed effects. The CG was composed by herd, year and month of test. DIM classes were formed with weekly intervals, constituting a total of 42 classes. The variance components were estimated by Restricted Maximum Likelihood Method (REML, using the Wombat software. The average and standard deviation of ECM were 4.80 mS cm-1 and 0.54 mS cm-1, respectively. The heritability estimates by multitrait model and their standard errors were 0.33 (0.05, 0.15 (0.03 and 0.22 (0.03 for ECM, MY and MT, respectively. Genetic correlation was 0.74 for MY and MT, 0.37 for MY and ECM and -0.09 for MY and ECM. In the unitrait analysis, the heritability estimate for ECM was 0.35 with a standard error of 0.05. These results agree with the literature that reported heritability estimates for electrical conductivity ranging from 0.26 to 0.39. Although the estimates were close, the heritability estimated by unitrait analysis was slightly higher that estimated by multtrait probably because the pedigree file was the

  1. The Effect of Education by Pharmacists for Hyperlipidemic Patients Treated With Statins on Patient’s Beliefs About Proper Use of Medications

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    Mehrpooya M

    2017-06-01

    Full Text Available Introduction: Hyperlipidemia is one of the most common chronic diseases found in millions of people. Studies have shown that the patient’s adherences to medication instructions provided by the pharmacist or doctor are important, yet unfortunately many patients do not adhere to proper usage of these drugs. The aim of this study was the evaluation of the effect of education by pharmacists for hyperlipidemic patients treated with statins on patient beliefs about the proper use of medications and compliance. Methods: In this interventional clinical trial study, the studied population was all hospitalized patients with heart disease treated with statins at Hamadan Farshchian hospital from January 2016 to June 2016. The sample size in this study was 50. Information was obtained in relation to each patient, using 2 questionnaires including demographic characteristics and beliefs questionnaire. Data were analyzed using the SPSS.19 software and t test, Mann-Whitney, and X2 tests. Significance level was considered less than 0.05 Results: Statistical test results showed that before the intervention, treatment belief was not significantly different between the 2 groups (P = 0.54, yet after the intervention the treatment belief increased in the intervention group (P = 0.007 and concern about using the drug declined. Conclusions: These findings suggest that education by pharmacists in patients with hyperlipidemia could have a positive and effective role on their belief about the proper use of drugs. In other words, it could have a role in the control of chronic diseases and could help promote public health.

  2. Comparison of Existing Clinical Scoring Systems in Predicting Severity and Prognoses of Hyperlipidemic Acute Pancreatitis in Chinese Patients: A Retrospective Study.

    Science.gov (United States)

    Qiu, Lei; Sun, Rui Qing; Jia, Rong Rong; Ma, Xiu Ying; Cheng, Li; Tang, Mao Chun; Zhao, Yan

    2015-06-01

    It is important to identify the severity of acute pancreatitis (AP) in the early course of the disease. Clinical scoring systems may be helpful to predict the prognosis of patients with early AP; however, few analysts have forecast the accuracy of scoring systems for the prognosis in hyperlipidemic acute pancreatitis (HLAP). The purpose of this study was to summarize the clinical characteristics of HLAP and compare the accuracy of conventional scoring systems in predicting the prognosis of HLAP. This study retrospectively analyzed all consecutively diagnosed AP patients between September 2008 and March 2014. We compared the clinical characteristics between HLAP and nonhyperlipidemic acute pancreatitis. The bedside index for severity of acute pancreatitis (BISAP), Ranson, computed tomography severity index (CTSI), and systemic inflammatory response syndrome (SIRS) scores were applied within 48 hours following admission. Of 909 AP patients, 129 (14.2%) had HLAP, 20 were classified as severe acute pancreatitis (SAP), 8 had pseudocysts, 9 had pancreatic necrosis, 30 had pleural effusions, 33 had SIRS, 14 had persistent organ failure, and there was 1 death. Among the HLAP patients, the area under curves for BISAP, Ranson, SIRS, and CTSI in predicting SAP were 0.905, 0.938, 0.812, and 0.834, 0.874, 0.726, 0.668, and 0.848 for local complications, and 0.904, 0.917, 0.758, and 0.849 for organ failure, respectively. HLAP patients were characterized by younger age at onset, higher recurrence rate, and being more prone to pancreatic necrosis, organ failure, and SAP. BISAP, Ranson, SIRS, and CTSI all have accuracy in predicting the prognosis of HLAP patients, but each has different strengths and weaknesses.

  3. Conjugated linoleic acid supplementation for 8 weeks does not affect body composition, lipid profile, or safety biomarkers in overweight, hyperlipidemic men.

    Science.gov (United States)

    Joseph, Shama V; Jacques, Hélène; Plourde, Mélanie; Mitchell, Patricia L; McLeod, Roger S; Jones, Peter J H

    2011-07-01

    The usefulness of conjugated linoleic acid (CLA) as a nutraceutical remains ambiguous. Our objective was, therefore, to investigate the effect of CLA on body composition, blood lipids, and safety biomarkers in overweight, hyperlipidemic men. A double-blinded, 3-phase crossover trial was conducted in overweight (BMI ≥ 25 kg/m(2)), borderline hypercholesterolemic [LDL-cholesterol (C) ≥ 2.5 mmol/L] men aged 18-60 y. During three 8-wk phases, each separated by a 4-wk washout period, 27 participants consumed under supervision in random order 3.5 g/d of safflower oil (control), a 50:50 mixture of trans 10, cis 12 and cis 9, trans 11 (c9, t11) CLA:Clarinol G-80, and c9, t11 isomer:c9, t11 CLA. At baseline and endpoint of each phase, body weight, body fat mass, and lean body mass were measured by DXA. Blood lipid profiles and safety biomarkers, including insulin sensitivity, blood concentrations of adiponectin, and inflammatory (high sensitive-C-reactive protein, TNFα, and IL-6) and oxidative (oxidized-LDL) molecules, were measured. The effect of CLA consumption on fatty acid oxidation was also assessed. Compared with the control treatment, the CLA treatments did not affect changes in body weight, body composition, or blood lipids. In addition, CLA did not affect the β-oxidation rate of fatty acids or induce significant alterations in the safety markers tested. In conclusion, although no detrimental effects were caused by supplementation, these results do not confirm a role for CLA in either body weight or blood lipid regulation in humans.

  4. A veritable menagerie of heritable bacteria from ants, butterflies, and beyond: broad molecular surveys and a systematic review.

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    Jacob A Russell

    Full Text Available Maternally transmitted bacteria have been important players in the evolution of insects and other arthropods, affecting their nutrition, defense, development, and reproduction. Wolbachia are the best studied among these and typically the most prevalent. While several other bacteria have independently evolved a heritable lifestyle, less is known about their host ranges. Moreover, most groups of insects have not had their heritable microflora systematically surveyed across a broad range of their taxonomic diversity. To help remedy these shortcomings we used diagnostic PCR to screen for five groups of heritable symbionts-Arsenophonus spp., Cardinium hertigii, Hamiltonella defensa, Spiroplasma spp., and Wolbachia spp.-across the ants and lepidopterans (focusing, in the latter case, on two butterfly families-the Lycaenidae and Nymphalidae. We did not detect Cardinium or Hamiltonella in any host. Wolbachia were the most widespread, while Spiroplasma (ants and lepidopterans and Arsenophonus (ants only were present at low levels. Co-infections with different Wolbachia strains appeared especially common in ants and less so in lepidopterans. While no additional facultative heritable symbionts were found among ants using universal bacterial primers, microbes related to heritable enteric bacteria were detected in several hosts. In summary, our findings show that Wolbachia are the dominant heritable symbionts of ants and at least some lepidopterans. However, a systematic review of symbiont frequencies across host taxa revealed that this is not always the case across other arthropods. Furthermore, comparisons of symbiont frequencies revealed that the prevalence of Wolbachia and other heritable symbionts varies substantially across lower-level arthropod taxa. We discuss the correlates, potential causes, and implications of these patterns, providing hypotheses on host attributes that may shape the distributions of these influential bacteria.

  5. A Veritable Menagerie of Heritable Bacteria from Ants, Butterflies, and Beyond: Broad Molecular Surveys and a Systematic Review

    Science.gov (United States)

    Russell, Jacob A.; Funaro, Colin F.; Giraldo, Ysabel M.; Goldman-Huertas, Benjamin; Suh, David; Kronauer, Daniel J. C.; Moreau, Corrie S.; Pierce, Naomi E.

    2012-01-01

    Maternally transmitted bacteria have been important players in the evolution of insects and other arthropods, affecting their nutrition, defense, development, and reproduction. Wolbachia are the best studied among these and typically the most prevalent. While several other bacteria have independently evolved a heritable lifestyle, less is known about their host ranges. Moreover, most groups of insects have not had their heritable microflora systematically surveyed across a broad range of their taxonomic diversity. To help remedy these shortcomings we used diagnostic PCR to screen for five groups of heritable symbionts—Arsenophonus spp., Cardinium hertigii, Hamiltonella defensa, Spiroplasma spp., and Wolbachia spp.—across the ants and lepidopterans (focusing, in the latter case, on two butterfly families—the Lycaenidae and Nymphalidae). We did not detect Cardinium or Hamiltonella in any host. Wolbachia were the most widespread, while Spiroplasma (ants and lepidopterans) and Arsenophonus (ants only) were present at low levels. Co-infections with different Wolbachia strains appeared especially common in ants and less so in lepidopterans. While no additional facultative heritable symbionts were found among ants using universal bacterial primers, microbes related to heritable enteric bacteria were detected in several hosts. In summary, our findings show that Wolbachia are the dominant heritable symbionts of ants and at least some lepidopterans. However, a systematic review of symbiont frequencies across host taxa revealed that this is not always the case across other arthropods. Furthermore, comparisons of symbiont frequencies revealed that the prevalence of Wolbachia and other heritable symbionts varies substantially across lower-level arthropod taxa. We discuss the correlates, potential causes, and implications of these patterns, providing hypotheses on host attributes that may shape the distributions of these influential bacteria. PMID:23284655

  6. Heritability of peripheral refraction in Chinese children and adolescents: the Guangzhou Twin Eye study.

    Science.gov (United States)

    Ding, Xiaohu; Lin, Zhi; Huang, Qunxiao; Zheng, Yingfeng; Congdon, Nathan; He, Mingguang

    2012-01-10

    To estimate the heritability of peripheral refraction in Chinese children and adolescents. The authors examined 72 monozygotic (MZ) twins and 48 dizygotic (DZ) twins aged 8 to 20 years from a population-based twin registry. Temporal and nasal peripheral refraction, each 40° from the visual axis, and axial refraction were measured using an autorefractor. Relative peripheral refractive error (RPRE) was defined as the peripheral refraction minus the axial refraction. Heritability was assessed by structural equation modeling after adjustment for age and sex. The mean and SD of temporal refraction (T(40)), nasal refraction (N(40)), RPRE-T(40), RPRE-N(40), and T(40)-N(40) asymmetry were -0.27 ± 2.0 D, 0.36 ± 2.19 D, 1.18 ± 1.39 D, 1.80 ± 1.69 D, and -0.62 ± 1.58 D, respectively. The intraclass correlations for T(40) refraction, N(40) refraction, RPRE-T(40), RPRE-N(40), and T(40)-N(40) asymmetry were 0.87, 0.83, 0.65, 0.74, and 0.58 for MZ pairs and 0.49, 0.42, 0.30, 0.41, and 0.32 for DZ pairs, respectively. A model with additive genetic and unique environmental effects was the most parsimonious, with heritability values estimated as 0.84, 0.76, 0.63, 0.70, and 0.55, respectively, for the peripheral refractive parameters. Additive genetic effects appear to explain most of the variance in peripheral refraction and relative peripheral refraction when adjusting for the effects of axial refraction.

  7. Sex differences and heritability of two indices of heart rate dynamics: a twin study.

    Science.gov (United States)

    Snieder, Harold; van Doornen, Lorenz J P; Boomsma, Dorret I; Thayer, Julian F

    2007-04-01

    We investigated whether women show larger heart rate variability (HRV) than men after controlling for a large number of health-related covariates, using two indices of HRV, namely respiratory sinus arrhythmia (RSA) and approximate entropy (ApEn). In a twin design, the heritability of both indices was examined. The covariation between RSA and ApEn, a measure of heart rate dynamics derived from nonlinear dynamical systems theory, was decomposed into genetic and environmental components. Subjects were 196 male and 210 female middle-aged twins. Females showed larger HRV than men before (ApEn: p RSA: p = .052) and after adjustment for covariates (ApEn: p RSA: p = .015). This sex difference was confirmed by significant intrapair differences in the opposite-sex twin pairs for both ApEn (p RSA (p = .03). In addition to sex, only heart period and age (both p RSA was also influenced by respiration rate and smoking (both p RSA and ApEn, respectively. Oral contraceptive use and menopausal status had no effect on HRV. Genetic model fitting yielded moderate heritability estimates for RSA (30%) and ApEn (40%) for both males and females. The correlation between RSA and ApEn (r = .60) could be attributed to genetic factors (48%), environmental factors (36%) and age (16%). The present study found support for a gender difference in HRV with women having greater HRV than men even after controlling for a large number of potential confounders. Indices of heart rate dynamics derived from nonlinear dynamical systems theory are moderately heritable and may be more sensitive than traditional indices of HRV to reveal subtle sex differences with important implications for health and disease.

  8. Heritability and genetic correlation of hair cortisol in vervet monkeys in low and higher stress environments.

    Science.gov (United States)

    Fairbanks, Lynn A; Jorgensen, Matthew J; Bailey, Julia N; Breidenthal, Sherry E; Grzywa, Rachel; Laudenslager, Mark L

    2011-09-01

    Chronic activation of the hypothalamic-pituitary adrenal (HPA) system is a risk factor for a variety of physical and mental disorders, and yet the complexity of the system has made it difficult to define the role of genetic and environmental factors in producing long-term individual differences in HPA activity. Cortisol levels in hair have been suggested as a marker of total HPA activation over a period of several months. This study takes advantage of a pedigreed nonhuman primate colony to investigate genetic and environmental influences on hair cortisol levels before and after an environmental change. A sample of 226 adult female vervet monkeys (age 3-18) living in multigenerational, matrilineal social groups at the Vervet Research Colony were sampled in a stable low stress baseline environment and 6 months after the entire colony was moved to a new facility with more frequent handling and group disturbances (higher stress environment). Variance components analysis using the extended colony pedigree was applied to determine heritability of hair cortisol levels in the two environments. Bivariate genetic correlation assessed degree of overlap in genes influencing hair cortisol levels in the low and higher stress environments. The results showed that levels of cortisol in hair of female vervets increased significantly from the baseline to the post-move environment. Hair cortisol levels were heritable in both environments (h(2)=0.31), and there was a high genetic correlation across environments (rhoG=0.79), indicating substantial overlap in the genes affecting HPA activity in low and higher stress environments. This is the first study to demonstrate that the level of cortisol in hair is a heritable trait. It shows the utility of hair cortisol as a marker for HPA activation, and a useful tool for identifying genetic influences on long term individual differences in HPA activity. The results provide support for an additive model of the effects of genes and environment

  9. Heritability of in vitro phenotypes exhibited by murine adipose-derived stromal cells.

    Science.gov (United States)

    Jiang, Zixuan; Harrison, David E; Parsons, Makayla E; McClatchy, Susan; Jacobs, Lawrence; Pazdro, Robert

    2016-10-01

    Adipose-derived stromal cells (ADSCs) exhibit significant potential as therapeutic agents to promote tissue regeneration. Success of ADSC-based therapies is dependent upon efficient cell expansion in vitro as well as postinjection survival in the caustic milieu of damaged tissue. Genetic background regulates ADSC proliferative capacity and stress resistance, but the extent of the genetic effect size is not completely defined. The present study aimed to quantify phenotypic ranges and heritability of in vitro ADSC characteristics. ADSCs were isolated from mice representing 16 genetically diverse inbred mouse strains, including 12 classical inbred strains and four wild-derived strains. Cells were grown in vitro, and proliferative capacity and oxidative stress resistance were assessed. The fold change for ADSC growth ranged from 0.87 (BALB/cByJ) to 23.60 (POHN/DehJ), relative to original seeding density. The heritability of proliferative capacity was estimated to be 0.6462 (p = 9.967 × 10(-15)), and this phenotype was not associated with other ADSC traits. Cell viability following H2O2 treatment ranged from 39.81 % (CAST/EiJ) to 91.60 % (DBA/2 J), and the heritability of this phenotype was calculated as 0.6146 (p = 1.22 × 10(-12)). Relationships between cell viability and weight of the donor fat pad were also discovered. Donor genetic background is a major determinant of in vitro ADSC phenotypes. This study supports the development of forward genetics strategies to identify genes that underlie ADSC phenotypic diversity, which will inform efforts to improve cell-based therapies.

  10. Heritabilities and genetic and phenotypic correlations of litter uniformity and litter size in Large White sows

    Institute of Scientific and Technical Information of China (English)

    ZHANG Tian; ZHAO Ke-bin; WANG Li-xian; WANG Li-gang; SHI Hui-bi; YAN Hua; ZHANG Long-chao; LIU Xin; PU Lei; LIANG Jing; ZHANG Yue-bo

    2016-01-01

    Litter uniformity, which is usualy represented by within-litter weight coefifcient of variation at birth (CVB), could inlfuence litter performance of sows and the proiftability of pig enterprises. The objective of this study was to characterize CVB and its effect on other reproductive traits in Large White sows. Genetic parameters and genetic correlation of the reproductive traits, including CVB, within-litter weight coefifcient of variation at three weeks (CVT), total number born (TNB), number born alive (NBA), number born dead (NBD), gestation length (GL), piglet mortality at birth (M0), piglet mortality at three weeks (M3), total litter weight at birth (TLW0), and total litter weight at three weeks (TLW3) were estimated for 2032 Large White litters. The effects of parity and classiifed litter size on CVB, CVT, TNB, NBA, NBD, GL, M0, M3, TLW0, and TLW3 were also estimated. The heritabilities of these reproductive traits ranged from 0.06 to 0.17, with the lowest heritability for CVB and the highest heritability for TLW0. Phenotypic and genetic correlations between these reproductive traits were low to highly positive and negative (ranging from −0.03 to 0.93, and −0.53 to 0.93, respectively). The genetic correlations between TNB and CVB, and between M0 and CVB were 0.32 and 0.29, respectively. In addition, CVB was signiifcantly inlfuenced by parity and litter size class (P<0.05). Al the results suggest that piglet uniformity should be maintained in pig production practices and pig breeding programs.

  11. Variation and Heritability of Phenology in the Fungus Monilinia vaccinii-corymbosi on Blueberry.

    Science.gov (United States)

    Lehman, J S; Oudemans, P V

    2000-04-01

    ABSTRACT The germination of field-collected pseudosclerotia and the development of apothecia from eight New Jersey populations of the mummy berry fungus Monilinia vaccinii-corymbosi were evaluated under controlled conditions in the greenhouse. Development data for apothecia were used to describe the timing of apothecium formation and to estimate broad- and narrow-sense heritabilities of fungal phenology. Mean development times for the formation of apothecia ranged from 35.4 to 54.7 days. The mean development times for populations collected from early-season cv. Weymouth ranged from 35.4 to 39.6 days and were significantly shorter than the development times for three of the four populations collected from late-season cv. Jersey (46.9 to 54.7 days) or for the population collected from mixed stands of cultivated blueberries (42.7 days). The development of populations from late cultivars planted in very close proximity to early cv. Weymouth was early (36.5 to 39.0 days) and not significantly different from the development of populations collected from cv. Weymouth. Phenotypic and genetic variances of apothecium development for individual populations ranged from 18.9 to 44.8 and 7.2 to 30.9, respectively. Broad-sense heritabilities of apothecia development for each fungal population, calculated by partitioning phenotypic variation into genetic and environmental components, ranged from 0.31 to 0.78. Narrow-sense heritabilities of apothecia development, based on parent-offspring regression, ranged from 0.58 to 0.78. These results indicate that populations of M. vaccinii-corymbosi differ in phenology and that a significant portion of the phenological variation within populations is genetic. Thus, it is plausible to propose that the phenology of apothecium development is a component of fungal fitness and that host phenology can influence the timing of pathogen development.

  12. Immunogenetics of systemic sclerosis: Defining heritability, functional variants and shared-autoimmunity pathways.

    Science.gov (United States)

    Bossini-Castillo, Lara; López-Isac, Elena; Martín, Javier

    2015-11-01

    Systemic sclerosis (SSc) is a clinically heterogeneous connective tissue disorder of complex etiology. The development of large-scale genetic studies, such as genome-wide association studies (GWASs) or the Immunochip platform, has achieved remarkable progress in the knowledge of the genetic background of SSc. Herein, we provide an updated picture SSc genetic factors, offering an insight into their role in pathogenic mechanisms that characterize the disease. We review the most recent findings in the HLA region and the well-established non-HLA loci. Up to 18 non-HLA risk factors fulfilled the selected criteria and they were classified according to their role in the innate or adaptive immune response, in apoptosis, autophagy or fibrosis. Additionally, SSc heritability has remained as a controversial question since twin studies provided low SSc heritability estimates. However, we have recalculated the lower bond of narrow sense SSc heritability using GWAS data. Remarkably, our results suggest a greater influence of genetics on SSc than previously reported. Furthermore, we also offer a functional classification of SSc-associated SNPs and their proxies, based on annotated data, to provide clues for the identification of causal variants in these loci. Finally, we explore the genetic overlap between SSc and other autoimmune diseases (ADs). The vast majority of SSc risk loci are shared with at least one additional AD, being the overlap between SSc and systemic lupus erythematous the largest. Nevertheless, we found that an important portion of SSc risk factors are also common to rheumatoid arthritis or primary biliary cirrhosis. Considering all these evidences, we are confident that future research will be successful in understanding the relevant altered pathways in SSc and in identifying new biomarkers and therapeutic targets for the disease. Copyright © 2015 Elsevier Ltd. All rights reserved.

  13. Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues

    Science.gov (United States)

    Wheeler, Heather E.; Shah, Kaanan P.; Brenner, Jonathon; Garcia, Tzintzuni; Aquino-Michaels, Keston; Cox, Nancy J.; Nicolae, Dan L.

    2016-01-01

    Understanding the genetic architecture of gene expression traits is key to elucidating the underlying mechanisms of complex traits. Here, for the first time, we perform a systematic survey of the heritability and the distribution of effect sizes across all representative tissues in the human body. We find that local h2 can be relatively well characterized with 59% of expressed genes showing significant h2 (FDR compute distal h2. Bayesian Sparse Linear Mixed Model (BSLMM) analysis provides strong evidence that the genetic contribution to local expression traits is dominated by a handful of genetic variants rather than by the collective contribution of a large number of variants each of modest size. In other words, the local architecture of gene expression traits is sparse rather than polygenic across all 40 tissues (from DGN and GTEx) examined. This result is confirmed by the sparsity of optimal performing gene expression predictors via elastic net modeling. To further explore the tissue context specificity, we decompose the expression traits into cross-tissue and tissue-specific components using a novel Orthogonal Tissue Decomposition (OTD) approach. Through a series of simulations we show that the cross-tissue and tissue-specific components are identifiable via OTD. Heritability and sparsity estimates of these derived expression phenotypes show similar characteristics to the original traits. Consistent properties relative to prior GTEx multi-tissue analysis results suggest that these traits reflect the expected biology. Finally, we apply this knowledge to develop prediction models of gene expression traits for all tissues. The prediction models, heritability, and prediction performance R2 for original and decomposed expression phenotypes are made publicly available (https://github.com/hakyimlab/PrediXcan). PMID:27835642

  14. Heritability in the efficiency of nonsense-mediated mRNA decay in humans

    KAUST Repository

    Seoighe, Cathal

    2010-07-21

    Background: In eukaryotes mRNA transcripts of protein-coding genes in which an intron has been retained in the coding region normally result in premature stop codons and are therefore degraded through the nonsense-mediated mRNA decay (NMD) pathway. There is evidence in the form of selective pressure for in-frame stop codons in introns and a depletion of length three introns that this is an important and conserved quality-control mechanism. Yet recent reports have revealed that the efficiency of NMD varies across tissues and between individuals, with important clinical consequences. Principal Findings: Using previously published Affymetrix exon microarray data from cell lines genotyped as part of the International HapMap project, we investigated whether there are heritable, inter-individual differences in the abundance of intron-containing transcripts, potentially reflecting differences in the efficiency of NMD. We identified intronic probesets using EST data and report evidence of heritability in the extent of intron expression in 56 HapMap trios. We also used a genome-wide association approach to identify genetic markers associated with intron expression. Among the top candidates was a SNP in the DCP1A gene, which forms part of the decapping complex, involved in NMD. Conclusions: While we caution that some of the apparent inter-individual difference in intron expression may be attributable to different handling or treatments of cell lines, we hypothesize that there is significant polymorphism in the process of NMD, resulting in heritable differences in the abundance of intronic mRNA. Part of this phenotype is likely to be due to a polymorphism in a decapping enzyme on human chromosome 3. © 2010 Seoighe, Gehring.

  15. Heritability in the efficiency of nonsense-mediated mRNA decay in humans.

    LENUS (Irish Health Repository)

    Seoighe, Cathal

    2010-01-01

    BACKGROUND: In eukaryotes mRNA transcripts of protein-coding genes in which an intron has been retained in the coding region normally result in premature stop codons and are therefore degraded through the nonsense-mediated mRNA decay (NMD) pathway. There is evidence in the form of selective pressure for in-frame stop codons in introns and a depletion of length three introns that this is an important and conserved quality-control mechanism. Yet recent reports have revealed that the efficiency of NMD varies across tissues and between individuals, with important clinical consequences. PRINCIPAL FINDINGS: Using previously published Affymetrix exon microarray data from cell lines genotyped as part of the International HapMap project, we investigated whether there are heritable, inter-individual differences in the abundance of intron-containing transcripts, potentially reflecting differences in the efficiency of NMD. We identified intronic probesets using EST data and report evidence of heritability in the extent of intron expression in 56 HapMap trios. We also used a genome-wide association approach to identify genetic markers associated with intron expression. Among the top candidates was a SNP in the DCP1A gene, which forms part of the decapping complex, involved in NMD. CONCLUSIONS: While we caution that some of the apparent inter-individual difference in intron expression may be attributable to different handling or treatments of cell lines, we hypothesize that there is significant polymorphism in the process of NMD, resulting in heritable differences in the abundance of intronic mRNA. Part of this phenotype is likely to be due to a polymorphism in a decapping enzyme on human chromosome 3.

  16. Heritability and factors associated with number of harness race starts in the Spanish Trotter horse population.

    Science.gov (United States)

    Solé, M; Valera, M; Gómez, M D; Sölkner, J; Molina, A; Mészáros, G

    2017-05-01

    Longevity/durability is a relevant trait in racehorses. Genetic analysis and knowledge of factors that influence number of harness race starts would be advantageous for both horse welfare and the equine industry. To perform a genetic analysis on harness racing using number of races as a measure of longevity/durability and to identify factors associated with career length in Spanish Trotter Horses (STH). Longitudinal study. Performance data (n = 331,970) on the STH population for harness racing at national level between 1990 and 2014 were used. A grouped data model was fitted to assess factors influencing the risk of ending harness racing career and to estimate the heritability and breeding values for total number of harness races starts as an indicator of horses' longevity and durability. The model included sex, age at first race and first start earnings as time-independent effects, and the calendar year, driver, trainer, racetrack category and season of competition as time-dependent effects. Across the whole dataset, the average number of harness races horses achieved in Spain was 54.7 races, and this was associated with the horses' sex, age at first race and first start earnings, calendar year, driver, racetrack category, and season. The heritability estimated (0.17 ± 0.01) for number of harness race starts indicates that a beneficial response to direct genetic selection can be expected. Data on horses' health status were not available. Horses' total number of harness race starts is a promising tool for genetic analysis and the evaluation of racing longevity and durability. The estimated heritability provides evidence to support the application of genetic selection of total career number of races to improve longevity/durability of STH. © 2016 EVJ Ltd.

  17. Sexual dimorphism in melanin pigmentation, feather coloration and its heritability in the barn swallow (Hirundo rustica).

    Science.gov (United States)

    Saino, Nicola; Romano, Maria; Rubolini, Diego; Teplitsky, Celine; Ambrosini, Roberto; Caprioli, Manuela; Canova, Luca; Wakamatsu, Kazumasa

    2013-01-01

    Melanin is the main pigment in animal coloration and considerable variation in the concentrations of the two melanin forms (pheo- and eumlanin) in pigmented tissues exists among populations and individuals. Melanin-based coloration is receiving increasing attention particularly in socio-sexual communication contexts because the melanocortin system has been hypothesized to provide a mechanistic basis for covariation between coloration and fitness traits. However, with few notable exceptions, little detailed information is available on inter-individual and inter-population variation in melanin pigmentation and on its environmental, genetic and ontogenetic components. Here, we investigate melanin-based coloration in an Italian population of a passerine bird, the barn swallow (Hirundo rustica rustica), its sex- and age-related variation, and heritability. The concentrations of eu- and pheomelanin in the throat (brown) and belly (white-to-brownish) feathers differed between sexes but not according to age. The relative concentration of either melanin (Pheo:Eu) differed between sexes in throat but not in belly feathers, and the concentrations in males compared to females were larger in belly than in throat feathers. There were weak correlations between the concentrations of melanins within as well as among plumage regions. Coloration of belly feathers was predicted by the concentration of both melanins whereas coloration of throat feathers was only predicted by pheomelanin in females. In addition, Pheo:Eu predicted coloration of throat feathers in females and that of belly feathers in males. Finally, we found high heritability of color of throat feathers. Melanization was found to differ from that recorded in Hirundo rustica rustica from Scotland or from H. r. erythrogaster from North America. Hence, present results show that pigmentation strategies vary in a complex manner according to sex and plumage region, and also among geographical populations, potentially

  18. Heritability of hsp70 expression in the beetle Tenebrio molitor: Ontogenetic and environmental effects.

    Science.gov (United States)

    Lardies, Marco A; Arias, María Belén; Poupin, María Josefina; Bacigalupe, Leonardo D

    2014-08-01

    Ectotherms constitute the vast majority of terrestrial biodiversity and are especially likely to be vulnerable to climate warming because their basic physiological functions such as locomotion, growth, and reproduction are strongly influenced by environmental temperature. An integrated view about the effects of global warming will be reached not just establishing how the increase in mean temperature impacts the natural populations but also establishing the effects of the increase in temperature variance. One of the molecular responses that are activated in a cell under a temperature stress is the heat shock protein response (HSP). Some studies that have detected consistent differences among thermal treatments and ontogenetic stages in HSP70 expression have assumed that these differences had a genetic basis and consequently expression would be heritable. We tested for changes in quantitative genetic parameters of HSP70 expression in a half-sib design where individuals of the beetle Tenebrio molitor were maintained in constant and varying thermal environments. We estimated heritability of HSP70 expression using a linear mixed modelling approach in different ontogenetic stages. Expression levels of HSP70 were consistently higher in the variable environment and heritability estimates were low to moderate. The results imply that within each ontogenetic stage additive genetic variance was higher in the variable environment and in adults compared with constant environment and larvae stage, respectively. We found that almost all the genetic correlations across ontogenetic stages and environment were positive. These suggest that directional selection for higher levels of expression in one environment will result in higher expression levels of HSP70 on the other environment for the same ontogenetic stage.

  19. Heritability in the efficiency of nonsense-mediated mRNA decay in humans.

    Directory of Open Access Journals (Sweden)

    Cathal Seoighe

    Full Text Available BACKGROUND: In eukaryotes mRNA transcripts of protein-coding genes in which an intron has been retained in the coding region normally result in premature stop codons and are therefore degraded through the nonsense-mediated mRNA decay (NMD pathway. There is evidence in the form of selective pressure for in-frame stop codons in introns and a depletion of length three introns that this is an important and conserved quality-control mechanism. Yet recent reports have revealed that the efficiency of NMD varies across tissues and between individuals, with important clinical consequences. PRINCIPAL FINDINGS: Using previously published Affymetrix exon microarray data from cell lines genotyped as part of the International HapMap project, we investigated whether there are heritable, inter-individual differences in the abundance of intron-containing transcripts, potentially reflecting differences in the efficiency of NMD. We identified intronic probesets using EST data and report evidence of heritability in the extent of intron expression in 56 HapMap trios. We also used a genome-wide association approach to identify genetic markers associated with intron expression. Among the top candidates was a SNP in the DCP1A gene, which forms part of the decapping complex, involved in NMD. CONCLUSIONS: While we caution that some of the apparent inter-individual difference in intron expression may be attributable to different handling or treatments of cell lines, we hypothesize that there is significant polymorphism in the process of NMD, resulting in heritable differences in the abundance of intronic mRNA. Part of this phenotype is likely to be due to a polymorphism in a decapping enzyme on human chromosome 3.

  20. Heritability estimates for methane emission in Holstein cows using breath measurements

    DEFF Research Database (Denmark)

    Lassen, Jan; Madsen, Jørgen; Løvendahl, Peter

    2012-01-01

    cows. On a total of 683 dairy cows a Fourier Transformed Infrared (FTIR) measuring unit was used to make large scale individual methane emission records. The cows were measured in 7 herds during their visits to automatic milking systems (AMS). The FTIR unit air inlet was mounted in the front part...... model included fixed effects of herd, month, days in milk, lactation number, and random effects of animal and residual. Variance components were estimated in an animal model design using a pedigree containing 9661 animals. The heritability of the methane to carbon dioxide ratio was moderate (0...

  1. Nest-mate recognition based on heritable odors in the termite Microcerotermes arboreus.

    Science.gov (United States)

    Adams, E S

    1991-03-01

    Workers of the Neotropical termite Microcerotermes arboreus distinguish nest mates from other conspecifics by odor. A controlled breeding experiment demonstrated a genetic component to variation in colony odors. Workers were less aggressive toward unfamiliar relatives than toward nonrelatives and distinguished degree of relatedness among unfamiliar workers. Unfamiliar relatives were attacked more often than nest mates, despite similar levels of genetic relatedness; thus, nest-mate recognition is not based solely upon heritable characteristics of individual workers. No difference was detected between the effects of cues inherited through the mother and cues inherited through the father.

  2. Association Between Mortality and Heritability of the Scale of Aging Vigor in Epidemiology

    DEFF Research Database (Denmark)

    Sanders, Jason L; Singh, Jatinder; Minster, Ryan L

    2016-01-01

    (LLFS) in the United States and Denmark. PARTICIPANTS: Long-lived individuals (N = 4,875, including 4,075 genetically related individuals) and their families (N = 551). MEASUREMENTS: The SAVE was administered to 3,599 participants and included weight change, weakness (grip strength), fatigue......OBJECTIVES: To investigate the association between mortality and heritability of a rescaled Fried frailty index, the Scale of Aging Vigor in Epidemiology (SAVE), to determine its value for genetic analyses. DESIGN: Longitudinal, community-based cohort study. SETTING: The Long Life Family Study......, suggesting a genetic component to age-related vigor and frailty and supporting its use for further genetic analyses....

  3. Heritable influence of DBH on adrenergic and renal function: twin and disease studies.

    Directory of Open Access Journals (Sweden)

    Dalal N Pasha

    Full Text Available BACKGROUND: Elevated sympathetic activity is associated with kidney dysfunction. Here we used twin pairs to probe heritability of GFR and its genetic covariance with other traits. METHODS: We evaluated renal and adrenergic phenotypes in twins. GFR was estimated by CKD-EPI algorithm. Heritability and genetic covariance of eGFR and associated risk traits were estimated by variance-components. Meta-analysis probed reproducibility of DBH genetic effects. Effect of DBH genetic variation on renal disease was tested in the NIDDK-AASK cohort. RESULTS: Norepinephrine secretion rose across eGFR tertiles while eGFR fell (p<0.0001. eGFR was heritable, at h(2 = 67.3±4.7% (p = 3.0E-18, as were secretion of norepinephrine (h(2 = 66.5±5.0%, p = 3.2E-16 and dopamine (h(2 = 56.5±5.6%, p = 1.8E-13, and eGFR displayed genetic co-determination (covariance with norepinephrine (ρG = -0.557±0.088, p = 1.11E-08 as well as dopamine (ρG = -0.223±0.101, p = 2.3E-02. Since dopamine β-hydroxylase (DBH catalyzes conversion of dopamine to norepinephrine, we studied functional variation at DBH; DBH promoter haplotypes predicted transcriptional activity (p<0.001, plasma DBH (p<0.0001 and norepinephrine (p = 0.0297 secretion; transcriptional activity was inversely (p<0.0001 associated with basal eGFR. Meta-analysis validated DBH haplotype effects on eGFR across 3 samples. In NIDDK-AASK, we established a role for DBH promoter variation in long-term renal decline rate (GFR slope, p = 0.003. CONCLUSIONS: The heritable GFR trait shares genetic determination with catecholamines, suggesting new pathophysiologic, diagnostic and therapeutic approaches towards disorders of GFR as well as CKD. Adrenergic activity may play a role in progressive renal decline, and genetic variation at DBH may assist in profiling subjects for rational preventive treatment.

  4. Heritability of strabismus: genetic influence is specific to eso-deviation and independent of refractive error.

    Science.gov (United States)

    Sanfilippo, Paul G; Hammond, Christopher J; Staffieri, Sandra E; Kearns, Lisa S; Melissa Liew, S H; Barbour, Julie M; Hewitt, Alex W; Ge, Dongliang; Snieder, Harold; Mackinnon, Jane R; Brown, Shayne A; Lorenz, Birgit; Spector, Tim D; Martin, Nicholas G; Wilmer, Jeremy B; Mackey, David A

    2012-10-01

    Strabismus represents a complex oculomotor disorder characterized by the deviation of one or both eyes and poor vision. A more sophisticated understanding of the genetic liability of strabismus is required to guide searches for associated molecular variants. In this classical twin study of 1,462 twin pairs, we examined the relative influence of genes and environment in comitant strabismus, and the degree to which these influences can be explained by factors in common with refractive error. Participants were examined for the presence of latent ('phoria') and manifest ('tropia') strabismus using cover-uncover and alternate cover tests. Two phenotypes were distinguished: eso-deviation (esophoria and esotropia) and exo-deviation (exophoria and exotropia). Structural equation modeling was subsequently employed to partition the observed phenotypic variation in the twin data into specific variance components. The prevalence of eso-deviation and exo-deviation was 8.6% and 20.7%, respectively. For eso-deviation, the polychoric correlation was significantly greater in monozygotic (MZ) (r = 0.65) compared to dizygotic (DZ) twin pairs (r = 0.33), suggesting a genetic role (p = .003). There was no significant difference in polychoric correlation between MZ (r = 0.55) and DZ twin pairs (r = 0.53) for exo-deviation (p = .86), implying that genetic factors do not play a significant role in the etiology of exo-deviation. The heritability of an eso-deviation was 0.64 (95% CI 0.50-0.75). The additive genetic correlation for eso-deviation and refractive error was 0.13 and the bivariate heritability (i.e., shared variance) was less than 1%, suggesting negligible shared genetic effect. This study documents a substantial heritability of 64% for eso-deviation, yet no corresponding heritability for exo-deviation, suggesting that the genetic contribution to strabismus may be specific to eso-deviation. Future studies are now needed to identify the genes associated with eso-deviation and

  5. Heritable oxidative phosphorylation differences in a pollutant resistant Fundulus heteroclitus population

    Energy Technology Data Exchange (ETDEWEB)

    Du, Xiao, E-mail: xdu@rsmas.miami.edu [Marine Biology and Ecology, Rosenstiel School of Marine and Atmospheric Science, University of Miami, 4600 Rickenbacker Causeway, Miami, FL 33149 (United States); Crawford, Douglas L. [Marine Biology and Ecology, Rosenstiel School of Marine and Atmospheric Science, University of Miami, 4600 Rickenbacker Causeway, Miami, FL 33149 (United States); Nacci, Diane E. [Population Ecology Branch, Atlantic Ecology Division, Office of Research and Development, U.S. Environmental Protection Agency, 27 Tarzwell Dr., Narragansett, RI 02882 (United States); Oleksiak, Marjorie F., E-mail: moleksiak@rsmas.miami.edu [Marine Biology and Ecology, Rosenstiel School of Marine and Atmospheric Science, University of Miami, 4600 Rickenbacker Causeway, Miami, FL 33149 (United States)

    2016-08-15

    Highlights: • Laboratory reared fish from a highly polluted and clean reference population were compared. • Oxidative phosphorylation (e.g., State 3, enzymes, and proton LEAK) was quantified. • Laboratory reared F3 fish from polluted population displayed higher routine metabolism and complex II activity but lower complex I enzyme activity. • Enhanced OxPhos metabolism and toxicity resistance were retained in laboratory reared F3 fish from the polluted population. - Abstract: Populations can adapt to stress including recent anthropogenic pollution. Our published data suggests heritable differences in hepatocyte oxidative phosphorylation (OxPhos) metabolism in field-caught killifish (Fundulus heteroclitus) from the highly polluted Elizabeth River, VA, USA, relative to fish from a nearby, relatively unpolluted reference site in King’s Creek VA. Consistent with other studies showing that Elizabeth River killifish are resistant to some of the toxic effects of certain contaminants, OxPhos measurements in hepatocytes from field-caught King’s Creek but not field-caught Elizabeth River killifish were altered by acute benzo [a] pyrene exposures. To more definitively test whether the enhanced OxPhos metabolism and toxicity resistance are heritable, we measured OxPhos metabolism in a laboratory-reared F3 generation from the Elizabeth River population versus a laboratory-reared F1 generation from the King’s Creek population and compared these results to previous data from the field-caught fish. The F3 Elizabeth River fish compared to F1 King’s Creek fish had significantly higher State 3 respiration (routine metabolism) and complex II activity, and significantly lower complex I activity. The consistently higher routine metabolism in the F3 and field-caught Elizabeth River fish versus F1 and field-caught King’s Creek fish implies a heritable change in OxPhos function. The observation that LEAK, E-State, Complex I and Complex II were different in laboratory bred

  6. Heritability, parental transmission and environment correlation of pediatric-onset type 2 diabetes mellitus and metabolic syndrome-related traits.

    Science.gov (United States)

    Miranda-Lora, América L; Vilchis-Gil, Jenny; Molina-Díaz, Mario; Flores-Huerta, Samuel; Klünder-Klünder, Miguel

    2017-04-01

    To estimate the heritability, parental transmission and environmental contributions to the phenotypic variation in type 2 diabetes mellitus and metabolic syndrome-related traits in families of Mexican children and adolescents. We performed a cross-sectional study of 184 tri-generational pedigrees with a total of 1160 individuals (99 families with a type 2 diabetes mellitus proband before age 19). The family history of type 2 diabetes mellitus in three generations was obtained by interview. Demographic, anthropometric, biochemical and lifestyle information was corroborated in parents and offspring. We obtained correlations for metabolic traits between relative pairs, and variance component methods were used to determine the heritability and environmental components. The heritability of early-onset of type 2 diabetes mellitus was 0.50 (p0.50) for blood pressure, HbA1c and HDL-cholesterol after multivariate adjustment (pdiabetes mellitus and insulin resistance, were significantly correlated only through the mother and others, such as hypertriglyceridemia, were significantly correlated only through the father. This study demonstrates that type 2 diabetes mellitus and metabolic syndrome-related traits are highly heritable among Mexican children and adolescents. Furthermore, several cardiometabolic factors have strong heritability and/or high environmental contributions that highlight the complex architecture of these alterations. Copyright © 2017 Elsevier B.V. All rights reserved.

  7. Body size phenotypes are heritable and mediate fecundity but not fitness in the lepidopteran frugivore Cydia pomonella

    Science.gov (United States)

    Davis, Thomas Seth; Landolt, Peter J.

    2012-06-01

    The inheritance and functional roles of quantitative traits are central concerns of evolutionary ecology. We report two sets of experiments that investigated the heritability and reproductive consequences of body size phenotypes in a globally distributed lepidopteran frugivore, Cydia pomonella (L.). In our first set of experiments, we tested the hypotheses that (1) body size is heritable and (2) parental body size mediates egg production and offspring survival. Midparent-offspring regression analyses revealed that body mass is highly heritable for females and moderately heritable for males. The contribution of fathers to estimates of additive genetic variance was slightly greater than for mothers. Egg production increased with mean parental size, but offspring survival rates were equivalent. Based on this result, we tested two additional hypotheses in a second set of experiments: (3) male size moderates female egg production and egg fertility and (4) egg production, egg fertility, and offspring survival rate are influenced by female mating opportunities. Females paired with large males produced more eggs and a higher proportion of fertile eggs than females paired with small males. Females with multiple mating opportunities produced more fertile eggs than females paired with a single male. However, egg production and offspring survival rates were unaffected by the number of mating opportunities. Our experiments demonstrate that body mass is heritable in C. pomonella and that size phenotypes may mediate fecundity but not fitness. We conclude that male size can influence egg production and fertility, but female mate choice also plays a role in determining egg fertility.

  8. The heritability of aptitude and exceptional talent across different domains in adolescents and young adults.

    Science.gov (United States)

    Vinkhuyzen, Anna A E; van der Sluis, Sophie; Posthuma, Danielle; Boomsma, Dorret I

    2009-07-01

    The origin of individual differences in aptitude, defined as a domain-specific skill within the normal ability range, and talent, defined as a domain specific skill of exceptional quality, is under debate. The nature of the variation in aptitudes and exceptional talents across different domains was investigated in a population based twin sample. Self-report data from 1,685 twin pairs (12-24 years) were analyzed for Music, Arts, Writing, Language, Chess, Mathematics, Sports, Memory, and Knowledge. The influence of shared environment was small for both aptitude and talent. Additive and non-additive genetic effects explained the major part of the substantial familial clustering in the aptitude measures with heritability estimates ranging between .32 and .71. Heritability estimates for talents were higher and ranged between .50 and .92. In general, the genetic architecture for aptitude and talent was similar in men and women. Genetic factors contribute to a large extent to variation in aptitude and talent across different domains of intellectual, creative, and sports abilities.

  9. Heritability and Genetic Advance among Chili Pepper Genotypes for Heat Tolerance and Morphophysiological Characteristics

    Science.gov (United States)

    Usman, Magaji G.; Rafii, M. Y.; Ismail, M. R.; Malek, M. A.; Abdul Latif, Mohammad

    2014-01-01

    High temperature tolerance is an important component of adaptation to arid and semiarid cropping environment in chili pepper. Two experiments were carried out to study the genetic variability among chili pepper for heat tolerance and morphophysiological traits and to estimate heritability and genetic advance expected from selection. There was a highly significant variation among the genotypes in response to high temperature (CMT), photosynthesis rate, plant height, disease incidence, fruit length, fruit weight, number of fruits, and yield per plant. At 5% selection intensity, high genetic advance as percent of the mean (>20%) was observed for CMT, photosynthesis rate, fruit length, fruit weight, number of fruits, and yield per plant. Similarly, high heritability (>60%) was also observed indicating the substantial effect of additive gene more than the environmental effect. Yield per plant showed strong to moderately positive correlations (r = 0.23–0.56) at phenotypic level while at genotypic level correlation coefficient ranged from 0.16 to 0.72 for CMT, plant height, fruit length, and number of fruits. Cluster analysis revealed eight groups and Group VIII recorded the highest CMT and yield. Group IV recorded 13 genotypes while Groups II, VII, and VIII recorded one each. The results showed that the availability of genetic variance could be useful for exploitation through selection for further breeding purposes. PMID:25478590

  10. Strategies to modulate heritable epigenetic defects in cellular machinery: lessons from nature.

    Science.gov (United States)

    Pandian, Ganesh N; Sugiyama, Hiroshi

    2012-12-27

    Natural epigenetic processes precisely orchestrate the intricate gene network by expressing and suppressing genes at the right place and time, thereby playing an essential role in maintaining the cellular homeostasis. Environment-mediated alteration of this natural epigenomic pattern causes abnormal cell behavior and shifts the cell from the normal to a diseased state, leading to certain cancers and neurodegenerative disorders. Unlike heritable diseases that are caused by the irreversible mutations in DNA, epigenetic errors can be reversed. Inheritance of epigenetic memory is also a major concern in the clinical translation of the Nobel Prize-winning discovery of induced pluripotent stem cell technology. Consequently, there is an increasing interest in the development of novel epigenetic switch-based therapeutic strategies that could potentially restore the heritable changes in epigenetically inherited disorders. Here we give a comprehensive overview of epigenetic inheritance and suggest the prospects of therapeutic gene modulation using epigenetic-based drugs, in particular histone deacetylase inhibitors. This review suggests that there is a need to develop therapeutic strategies that effectively mimic the natural environment and include the ways to modulate the gene expression at both the genetic and epigenetic levels. The development of tailor-made small molecules that could epigenetically alter DNA in a sequence-specific manner is a promising approach for restoring defects in an altered epigenome and may offer a sustainable solution to some unresolved clinical issues.

  11. [Realized resistance heritability and resistance risk of spodoptera exigua to cyhalothrin, fenvalerate and alpha-cypermethrin].

    Science.gov (United States)

    Lan, Yiquan; Zhao, Shixi; Wu, Gang

    2006-03-01

    In this paper, Spodoptera exigua from Fuzhou of Fujian Province was continuously selected and bred to test its resistance to cyhalothrin, fenvalerate and alpha-cypermethrin, and to evaluate its realized resistance heritability (h2) and resistance risk. The results showed that after 12, 10, and 10 generations, the resistance of S. exigua to cyhalothrin, fenvalerate and alpha-cypermethrin was increased by 18.1-, 27.6-, and 45.4-fold, and the realized cyhalothrin, fenvalerate and alpha-cypermethrin was increased by 18.1-, 27.6-, and 45.4-fold, and the realized resistance heritability was 0. 2567, 0. 3571 and 0. 4239, respectively. Assuming that the h2 of field S. exigua population was half of these values, it required 9 to approximately 20 generations for cyhalothrin, 6 to approximately 14 generations for fenvalerate, and 5 to approximately12 generations for alpha-cypermethrin to obtain 10-fold increase in resistance under selective pressure of 50% to approximately 90 % mortality for each selective generation. Of the three pyrethroids, the resistance risk to cyhalothrin was smaller than that to fenvalerate and alpha-cypermethrin.

  12. Strategies To Modulate Heritable Epigenetic Defects in Cellular Machinery: Lessons from Nature

    Directory of Open Access Journals (Sweden)

    Ganesh N. Pandian

    2012-12-01

    Full Text Available Natural epigenetic processes precisely orchestrate the intricate gene network by expressing and suppressing genes at the right place and time, thereby playing an essential role in maintaining the cellular homeostasis. Environment-mediated alteration of this natural epigenomic pattern causes abnormal cell behavior and shifts the cell from the normal to a diseased state, leading to certain cancers and neurodegenerative disorders. Unlike heritable diseases that are caused by the irreversible mutations in DNA, epigenetic errors can be reversed. Inheritance of epigenetic memory is also a major concern in the clinical translation of the Nobel Prize-winning discovery of induced pluripotent stem cell technology. Consequently, there is an increasing interest in the development of novel epigenetic switch-based therapeutic strategies that could potentially restore the heritable changes in epigenetically inherited disorders. Here we give a comprehensive overview of epigenetic inheritance and suggest the prospects of therapeutic gene modulation using epigenetic-based drugs, in particular histone deacetylase inhibitors. This review suggests that there is a need to develop therapeutic strategies that effectively mimic the natural environment and include the ways to modulate the gene expression at both the genetic and epigenetic levels. The development of tailor-made small molecules that could epigenetically alter DNA in a sequence-specific manner is a promising approach for restoring defects in an altered epigenome and may offer a sustainable solution to some unresolved clinical issues.

  13. Heritability of the neural response to emotional pictures: evidence from ERPs in an adult twin sample.

    Science.gov (United States)

    Weinberg, Anna; Venables, Noah C; Proudfit, Greg Hajcak; Patrick, Christopher J

    2015-03-01

    Affect-modulated event-related potentials (ERPs) are increasingly used to study psychopathology and individual differences in emotion processing. Many have suggested that variation in these neural responses reflects genetically mediated risk. However, to date, no studies have demonstrated genetic contributions to affect-modulated ERPs. The present study therefore sought to examine the heritability of a range of ERPs elicited during affective picture viewing. One hundred and thirty monozygotic and 124 dizygotic twin pairs passively viewed 30 pleasant, 30 neutral and 30 unpleasant images for 6 s each. The early posterior negativity was scored for each subject; in addition, the P300/late positive potential (LPP) was scored in multiple time windows and sites. Results indicate that the centro-parietal P300 (occurring between 300 and 600 ms) is subject to substantial genetic contributions. Furthermore, variance in the P300 elicited by affective stimuli was moderately heritable even after controlling for the P300 elicited by neutral stimuli. Later and more frontal activation (i.e. between 1000 and 3000 ms) also showed evidence of heritablity. Early parietal, and perhaps later frontal portions of the P300/LPP complex, may therefore represent promising neurobehavioral markers of genetically influenced processing of emotional information. © The Author (2014). Published by Oxford University Press. For Permissions, please email: journals.permissions@oup.com.

  14. Components of variance and heritability of resistance to important fungal diseases agents in grapevine

    Directory of Open Access Journals (Sweden)

    Nikolić Dragan

    2006-01-01

    Full Text Available In four interspecies crossing combinations of grapevine (Seedling 108 x Muscat Hamburg, Muscat Hamburg x Seedling 108, S.V.I8315 x Muscat Hamburg and Muscat Hamburg x S.V.I2375 during three years period, resistance to important fungal diseases agents (Plasmopara viticola and Botrytis cinerea were examined. Based on results of analysis of variance, for investigated characteristics, components of variance, coefficients of genetic and phenotypic variation and coefficient of heritability in a broader sense were calculated. It was established that for both characteristics and in all crossing combinations, genetic variance took the biggest part in total variability. The lowest coefficients of genetic and phenotypic variation were established for both properties in crossing combination Seedling 108 x Muscat Hamburg. The highest coefficients of genetic and phenotypic variation were determined for leaf resistance to Plasmopara viticola in crossing combination Muscat Hamburg x S.V.I2375, and for bunch resistance to Botrytis cinerea in crossing combination Muscat Hamburg x Seedling 108. Considering all investigated crossing combinations, coefficient of heritability for leaf resistance to Plasmopara viticola was from 87.23% to 94.88%, and for bunch resistance to Botrytis cinerea from 88.04% to 93.32%. .

  15. Probability and heritability estimates on primary osteoarthritis of the hip leading to total hip arthroplasty

    DEFF Research Database (Denmark)

    Skousgaard, Søren Glud; Hjelmborg, Jacob; Skytthe, Axel;

    2015-01-01

    INTRODUCTION: Primary hip osteoarthritis, radiographic as well as symptomatic, is highly associated with increasing age in both genders. However, little is known about the mechanisms behind this, in particular if this increase is caused by genetic factors. This study examined the risk and heritab......INTRODUCTION: Primary hip osteoarthritis, radiographic as well as symptomatic, is highly associated with increasing age in both genders. However, little is known about the mechanisms behind this, in particular if this increase is caused by genetic factors. This study examined the risk...... and heritability of primary osteoarthritis of the hip leading to a total hip arthroplasty, and if this heritability increased with increasing age. METHODS: In a nationwide population-based follow-up study 118,788 twins from the Danish Twin Register and 90,007 individuals from the Danish Hip Arthroplasty Register...... not have had a total hip arthroplasty at the time of follow-up. RESULTS: There were 94,063 twins eligible for analyses, comprising 835 cases of 36 concordant and 763 discordant twin pairs. The probability increased particularly from 50 years of age. After sex and age adjustment a significant additive...

  16. Partitioning heritability analysis reveals a shared genetic basis of brain anatomy and schizophrenia

    Science.gov (United States)

    Lee, Phil H.; Baker, Justin T.; Holmes, Avram J.; Jahanshad, Neda; Ge, Tian; Jung, Jae-Yoon; Cruz, Yanela; Manoach, Dara S.; Hibar, Derrek P.; Faskowitz, Joshua; McMahon, Katie L.; de Zubicaray, Greig I.; Martin, Nicolas H.; Wright, Margaret J.; Öngür, Dost; Buckner, Randy; Roffman, Joshua; Thompson, Paul M.; Smoller, Jordan W.

    2016-01-01

    Schizophrenia is a devastating neurodevelopmental disorder with a complex genetic etiology. Widespread cortical gray matter loss has been observed in patients and prodromal samples. However, it remains unresolved whether schizophrenia-associated cortical structure variations arise due to disease etiology or secondary to the illness. Here we address this question using a partitioning-based heritability analysis of genome-wide SNP and neuroimaging data from 1,750 healthy individuals. We find that schizophrenia-associated genetic variants explain a significantly enriched proportion of trait heritability in eight brain phenotypes (FDR=10%). In particular, intracranial volume (ICV) and left superior frontal gyrus thickness exhibit significant and robust associations with schizophrenia genetic risk under varying SNP selection conditions. Cross disorder comparison suggests that the neurogenetic architecture of schizophrenia-associated brain regions is, at least in part, shared with other psychiatric disorders. Our study highlights key neuroanatomical correlates of schizophrenia genetic risk in the general population. These may provide fundamental insights into the complex pathophysiology of the illness, and a potential link to neurocognitive deficits shaping the disorder. PMID:27725656

  17. Heritability and Genetic Advance among Chili Pepper Genotypes for Heat Tolerance and Morphophysiological Characteristics

    Directory of Open Access Journals (Sweden)

    Magaji G. Usman

    2014-01-01

    Full Text Available High temperature tolerance is an important component of adaptation to arid and semiarid cropping environment in chili pepper. Two experiments were carried out to study the genetic variability among chili pepper for heat tolerance and morphophysiological traits and to estimate heritability and genetic advance expected from selection. There was a highly significant variation among the genotypes in response to high temperature (CMT, photosynthesis rate, plant height, disease incidence, fruit length, fruit weight, number of fruits, and yield per plant. At 5% selection intensity, high genetic advance as percent of the mean (>20% was observed for CMT, photosynthesis rate, fruit length, fruit weight, number of fruits, and yield per plant. Similarly, high heritability (>60% was also observed indicating the substantial effect of additive gene more than the environmental effect. Yield per plant showed strong to moderately positive correlations (r=0.23–0.56 at phenotypic level while at genotypic level correlation coefficient ranged from 0.16 to 0.72 for CMT, plant height, fruit length, and number of fruits. Cluster analysis revealed eight groups and Group VIII recorded the highest CMT and yield. Group IV recorded 13 genotypes while Groups II, VII, and VIII recorded one each. The results showed that the availability of genetic variance could be useful for exploitation through selection for further breeding purposes.

  18. Heritability and Correlation of Lip Prints and Palmprints in South Kerala Population

    Directory of Open Access Journals (Sweden)

    V.R Rekha

    2015-01-01

    Full Text Available Background: For ensic dentistry, a branch of forensic sciences, identify suspects with the uniqueness of oral and maxillofacial structures. Lip prints and palmprints are unique. Aims and objectives: The present study was carried out with the objectives of evaluating the correlation between lip prints and palmprints and heritability of lip prints and palmprints among parents and their off springs. The predominant pattern of lip prints and palmprints were also analyzed. Materials and methods: The study group comprised of 35 families from South Keral a population. Participants belonging to the same family pedigree—Father, mother, children of each family were selected. Results: The predominant lip pattern in the entire study popu­ lation was Type II. The predominant palm pattern in the entire study population was Category 5 in both right and left palm. Lip pattern shows a positive correlation with right palm pattern, but it is statistically insignificant (p = 0.144. Lip pattern showed neither positive correlation nor significant association with the left palm. This study results revealed significant association between lip print patterns among parents and children (p = 0.04. Conclusion: The prese nt study was conducted to find out the heritability and correlation of lip and palmprints in the South Kerala population. Lip pattern shows a positive correlation with right palm pattern, but it is statistically insignificant. Significant association between lip print patterns among parents and children were noticed in our study.

  19. Heritability of rectal temperature and genetic correlations with production and reproduction traits in dairy cattle.

    Science.gov (United States)

    Dikmen, S; Cole, J B; Null, D J; Hansen, P J

    2012-06-01

    Genetic selection for body temperature during heat stress might be a useful approach to reduce the magnitude of heat stress effects on production and reproduction. Objectives of the study were to estimate the genetic parameters of rectal temperature (RT) in dairy cows in freestall barns under heat stress conditions and to determine the genetic and phenotypic correlations of rectal temperature with other traits. Afternoon RT were measured in a total of 1,695 lactating Holstein cows sired by 509 bulls during the summer in North Florida. Genetic parameters were estimated with Gibbs sampling, and best linear unbiased predictions of breeding values were predicted using an animal model. The heritability of RT was estimated to be 0.17 ± 0.13. Predicted transmitting abilities for rectal temperature changed 0.0068 ± 0.0020°C/yr from (birth year) 2002 to 2008. Approximate genetic correlations between RT and 305-d milk, fat, and protein yields, productive life, and net merit were significant and positive, whereas approximate genetic correlations between RT and somatic cell count score and daughter pregnancy rate were significant and negative. Rectal temperature during heat stress has moderate heritability, but genetic correlations with economically important traits mean that selection for RT could lead to lower productivity unless methods are used to identify genes affecting RT that do not adversely affect other traits of economic importance.

  20. Interplay between heritability of smoking and environmental conditions? A comparison of two birth cohorts

    Directory of Open Access Journals (Sweden)

    Vink Jacqueline M

    2011-05-01

    Full Text Available Abstract Background Attitudes and policy towards smoking changed over the past years in many countries including the Netherlands. Generally, this led to a decrease in smoking prevalence. As demonstrated in twin and family studies, individual differences in smoking behavior are partly influenced by genetic factors. We explore whether the current change in environmental conditions has influenced the genetic architecture of smoking. This would constitute evidence for Gene × Environment (G×E interaction. Methods Data on smoking were available from 2 cohorts of young adult twins (18-25 year registered with the Netherlands Twin Register. The first cohort completed a survey in 1993-1995 (n = 2669 and the second in 2009-2010 (n = 2339. Prevalence and genetic architecture of smoking were compared across cohorts using structural equation models in MX. Results Smoking prevalence decreased from 40-51% to 22-23% between 1993-1995 and 2009-2010. Genetic analyses, making use of the different genetic resemblance in monozygotic and dizygotic twins, showed that the heritability was the same in both cohorts. Conclusions The change in policy and smoking attitudes that led to a decrease in prevalence of smoking did not change the heritability of smoking and thus no evidence was found for GxE interaction.

  1. Experimental tests for heritable morphological color plasticity in non-native brown trout (Salmo trutta populations.

    Directory of Open Access Journals (Sweden)

    Peter A H Westley

    Full Text Available The success of invasive species is frequently attributed to phenotypic plasticity, which facilitates persistence in novel environments. Here we report on experimental tests to determine whether the intensity of cryptic coloration patterns in a global invader (brown trout, Salmo trutta was primarily the result of plasticity or heritable variation. Juvenile F1 offspring were created through experimental crosses of wild-caught parents and reared for 30 days in the laboratory in a split-brood design on either light or dark-colored gravel substrate. Skin and fin coloration quantified with digital photography and image analysis indicated strong plastic effects in response to substrate color; individuals reared on dark substrate had both darker melanin-based skin color and carotenoid-based fin colors than other members of their population reared on light substrate. Slopes of skin and fin color reaction norms were parallel between environments, which is not consistent with heritable population-level plasticity to substrate color. Similarly, we observed weak differences in population-level color within an environment, again suggesting little genetic control on the intensity of skin and fin colors. Taken as whole, our results are consistent with the hypothesis that phenotypic plasticity may have facilitated the success of brown trout invasions and suggests that plasticity is the most likely explanation for the variation in color intensity observed among these populations in nature.

  2. Assessment of heritability and genetic advance for agronomic traits in durum wheat (Triticum durum Desf.

    Directory of Open Access Journals (Sweden)

    HASSAN NIKKHAHKOUCHAKSARAEI

    2017-09-01

    Full Text Available In order to evaluate the amount of heritability for desirable agronomic characteristics and the genetic progress associated with grain yield of durum wheat (Triticum durum Desf., a split plot experiment was carried out with four replications during three cropping seasons (2009-2012. Three sowing dates (as environmental factor and six durum wheat varieties (as genotypic factor were considered as main and sub factors respectively. Analysis of variance showed interaction effects between genotypes and environments in days to ripening, plant height, spike length, number of grains per spike, number of spikes per unit area, grain mass and grain yield. The grain yield showed the highest positive correlation with number of grains per spike also grain mass (91 % and 85 %, respectively. A relatively high heritability of these traits (82.1 % and 82.2 %, respectively suggests that their genetic improvement is possible. The maximum genetic gain (19.6 % was observed for grain mass, indicating this trait should be a very important indicator for durum wheat breeders, although the climatic effects should not be ignored.

  3. Disentangling environmental and heritable nestmate recognition cues in a carpenter ant.

    Science.gov (United States)

    van Zweden, Jelle S; Dreier, Stephanie; d'Ettorre, Patrizia

    2009-02-01

    Discriminating between group members and strangers is a key feature of social life. Nestmate recognition is very effective in social insects and is manifested by aggression and rejection of alien individuals, which are prohibited to enter the nest. Nestmate recognition is based on the quantitative variation in cuticular hydrocarbons, which can include heritable cues from the workers, as well as acquired cues from the environment or queen-derived cues. We tracked the profile of six colonies of the ant Camponotus aethiops for a year under homogeneous laboratory conditions. We performed chemical and behavioral analyses. We show that nestmate recognition was not impaired by constant environment, even though cuticular hydrocarbon profiles changed over time and were slightly converging among colonies. Linear hydrocarbons increased over time, especially in queenless colonies, but appeared to have weak diagnostic power between colonies. The presence of a queen had little influence on nestmate discrimination abilities. Our results suggest that heritable cues of workers are the dominant factor influencing nestmate discrimination in these carpenter ants and highlight the importance of colony kin structure for the evolution of eusociality.

  4. Direct and maternal (co)variance components and heritability estimates for body weights in Chokla sheep.

    Science.gov (United States)

    Kushwaha, B P; Mandal, A; Arora, A L; Kumar, R; Kumar, S; Notter, D R

    2009-08-01

    Estimates of (co)variance components were obtained for weights at birth, weaning and 6, 9 and 12 months of age in Chokla sheep maintained at the Central Sheep and Wool Research Institute, Avikanagar, Rajasthan, India, over a period of 21 years (1980-2000). Records of 2030 lambs descended from 150 rams and 616 ewes were used in the study. Analyses were carried out by restricted maximum likelihood (REML) fitting an animal model and ignoring or including maternal genetic or permanent environmental effects. Six different animal models were fitted for all traits. The best model was chosen after testing the improvement of the log-likelihood values. Direct heritability estimates were inflated substantially for all traits when maternal effects were ignored. Heritability estimates for weight at birth, weaning and 6, 9 and 12 months of age were 0.20, 0.18, 0.16, 0.22 and 0.23, respectively in the best models. Additive maternal and maternal permanent environmental effects were both significant at birth, accounting for 9% and 12% of phenotypic variance, respectively, but the source of maternal effects (additive versus permanent environmental) at later ages could not be clearly identified. The estimated repeatabilities across years of ewe effects on lamb body weights were 0.26, 0.14, 0.12, 0.13, and 0.15 at birth, weaning, 6, 9 and 12 months of age, respectively. These results indicate that modest rates of genetic progress are possible for all weights.

  5. Heritability of dimensions of Eysenck's pen model and the alternative five-factor model of personality

    Directory of Open Access Journals (Sweden)

    Smederevac Snežana

    2006-01-01

    Full Text Available The main aim of this study is to estimate the heritability of AFFM and PEN dimensions, including 67 pairs of twins (34 monozygotic and 33 dizygotic of both genders, aged 18 - 44. The heritability has been estimated by the biometric method, two full (ACE and ADE and three reduced (AE, DE and CE models tested for each personality trait. Taking into consideration the AFFM dimensions, additive genetic factors and a non-shared environment contribute the most significantly to the phenotypic variation of activity, sociability and the impulsive sensation seeking; anxiety and aggressiveness are best accounted for by the dominant genetic effects. In the PEN domain, fit indicators suggest that ACE and the reduced AE models provide the best explanation for the phenotypic manifestations of neuroticism, while ACE and CE models account for the variation of L scale. Although the fit indicators calculated for extraversion and psychotic behavior are somewhat problematic, the parameter estimates show that extraversion is best accounted for by the additive genetic variance, shared environmental effects, and the non-shared environment, whereas psychotic behavior is the most adequately explained by both shared and non-shared environmental effects.

  6. Heritability of predicted daily enteric methane emissions from growing Nellore cattle.

    Science.gov (United States)

    Sobrinho, T L P; Mercadante, M E Z; Canesin, R C; Cyrillo, J N S G; Albuquerque, L G; Branco, R H

    2015-10-30

    The objective of this study was to estimate the heritability of predicted daily enteric methane emissions (PME) from growing Nellore cattle. Dry matter intake (DMI) records of 955 Nellore animals that were born between 2004 and 2013, which were obtained in a postweaning performance test lasting 83 ± 15 days, were used. The PME of each animal, obtained as MJ/day and converted to g/day, was estimated using three equations: PME1 (MJ/day) = 2.29 + 0.647 x DMI (kg/day), PME2 (MJ/day) = 3.96 + 0.561 x DMI (kg/day), and PME3 (MJ/day) = 4.41 + 0.50 x DMI (kg/day). The heritability (h2) of PME obtained using the three equations was identical to the h2 of DMI, regardless of whether the model included the effect of mid-test weight (h2 = 0.32 ± 0.069) or not (h2 = 0.48 ± 0.069). The equations were based exclusively on variations in DMI, and detected variations in this trait without taking into consideration individual differences in enteric methane emission caused by differences in fermentation and digestion capacity. Therefore, prediction equations of enteric methane emission from DMI are not adequate to estimate differences between animals.

  7. Reconsidering the heritability of intelligence in adulthood: taking assortative mating and cultural transmission into account.

    Science.gov (United States)

    Vinkhuyzen, Anna A E; van der Sluis, Sophie; Maes, Hermine H M; Posthuma, Danielle

    2012-03-01

    Heritability estimates of general intelligence in adulthood generally range from 75 to 85%, with all heritability due to additive genetic influences, while genetic dominance and shared environmental factors are absent, or too small to be detected. These estimates are derived from studies based on the classical twin design and are based on the assumption of random mating. Yet, considerable positive assortative mating has been reported for general intelligence. Unmodeled assortative mating may lead to biased estimates of the relative magnitude of genetic and environmental factors. To investigate the effects of assortative mating on the estimates of the variance components of intelligence, we employed an extended twin-family design. Psychometric IQ data were available for adult monozygotic and dizygotic twins, their siblings, the partners of the twins and siblings, and either the parents or the adult offspring of the twins and siblings (N = 1314). Two underlying processes of assortment were considered: phenotypic assortment and social homogamy. The phenotypic assortment model was slightly preferred over the social homogamy model, suggesting that assortment for intelligence is mostly due to a selection of mates on similarity in intelligence. Under the preferred phenotypic assortment model, the variance of intelligence in adulthood was not only due to non-shared environmental (18%) and additive genetic factors (44%) but also to non-additive genetic factors (27%) and phenotypic assortment (11%).This non-additive nature of genetic influences on intelligence needs to be accommodated in future GWAS studies for intelligence.

  8. Variability components and heritability of pomological and chemical characteristics in sour cherry clones of cultivar Montmorency

    Directory of Open Access Journals (Sweden)

    Fotirić Milica

    2007-01-01

    Full Text Available In 12 sour cherry clones of cultivar Montmorency 5 pomological (fruit length, fruit width, fruit weight, stone weight and fruit stem length and 4 chemical characteristics (soluble solid content, total acid content, invert sugar content and total sugar content were investigated. Based on results of analysis of variance for all examined characteristics, variability components, coefficients of genetic and phenotypic variation and coefficient of heritability in a broader sense were calculated. Considering components of total variability, year represented the component that caused variability of majority examined characteristics in the highest percentage. Coefficients of genetic variation showed that in investigated clones total acid content varied the least (CVg = 1.79%, and the most fruit weight (CVg = 11.41%. The lowest phenotypic varying was determined for fruit length (CVf = 4.01% but the highest for fruit weight (CVf = 13.86%. Coefficient of heritability was the highest for stone weight (h2 = 70.27%, and the lowest for total acid content (h2 = 7.73%.

  9. Heritability estimates of muscle strength-related phenotypes: A systematic review and meta-analysis.

    Science.gov (United States)

    Zempo, H; Miyamoto-Mikami, E; Kikuchi, N; Fuku, N; Miyachi, M; Murakami, H

    2016-11-23

    The purpose of this study was to clarify the heritability estimates of human muscle strength-related phenotypes (H(2) -msp). A systematic literature search was conducted using PubMed (through August 22, 2016). Studies reporting the H(2) -msp for healthy subjects in a sedentary state were included. Random-effects models were used to calculate the weighted mean heritability estimates. Moreover, subgroup analyses were performed based on phenotypic categories (eg, grip strength, isotonic strength, jumping ability). Sensitivity analyses were also conducted to investigate potential sources of heterogeneity of H(2) -msp, which included age and sex. Twenty-four articles including 58 measurements were included in the meta-analysis. The weighted mean H(2) -msp for all 58 measurements was 0.52 (95% confidence intervals [CI]: 0.48-0.56), with high heterogeneity (I(2) =91.0%, Pstrength, other isometric strength, isotonic strength, isokinetic strength, jumping ability, and other power measurements was 0.56 (95% CI: 0.46-0.67), 0.49 (0.47-0.52), 0.49 (0.32-0.67), 0.49 (0.37-0.61), 0.55 (0.45-0.65), and 0.51 (0.31-0.70), respectively. The H(2) -msp decreased with age (Pstrength-related phenotypes is comparable. Moreover, the role of environmental factors increased with age. These findings may contribute toward an understanding of muscle strength-related phenotypes.

  10. Probability landscape of heritable and robust epigenetic state of lysogeny in phage lambda.

    Science.gov (United States)

    Cao, Youfang; Lu, Hsiao-Mei; Liang, Jie

    2010-10-26

    Computational studies of biological networks can help to identify components and wirings responsible for observed phenotypes. However, studying stochastic networks controlling many biological processes is challenging. Similar to Schrödinger's equation in quantum mechanics, the chemical master equation (CME) provides a basic framework for understanding stochastic networks. However, except for simple problems, the CME cannot be solved analytically. Here we use a method called discrete chemical master equation (dCME) to compute directly the full steady-state probability landscape of the lysogeny maintenance network in phage lambda from its CME. Results show that wild-type phage lambda can maintain a constant level of repressor over a wide range of repressor degradation rate and is stable against UV irradiation, ensuring heritability of the lysogenic state. Furthermore, it can switch efficiently to the lytic state once repressor degradation increases past a high threshold by a small amount. We find that beyond bistability and nonlinear dimerization, cooperativity between repressors bound to O(R)1 and O(R)2 is required for stable and heritable epigenetic state of lysogeny that can switch efficiently. Mutants of phage lambda lack stability and do not possess a high threshold. Instead, they are leaky and respond to gradual changes in degradation rate. Our computation faithfully reproduces the hair triggers for UV-induced lysis observed in mutants and the limitation in robustness against mutations. The landscape approach computed from dCME is general and can be applied to study broad issues in systems biology.

  11. Genetic variability and heritability in cultivated okra [Abel moschus esculentus (L.) Moench

    Energy Technology Data Exchange (ETDEWEB)

    Nwangburuka, C. C.; Denton, O. A.; Khinde, O. B.; Ojo, D. K.; Popoola, A. R.

    2012-11-01

    Twenty-nine okra accessions from different agro-ecological regions in Nigeria were grown during the rainy and dry seasons, between 2006 and 2007 at Abeokuta (derived savanah) and Ilishan (rainforest) and assessed to determine their genetic variability, heritability and genetic advance from eight yield related characters. The experiment was laid out in a Randomized Complete Block Design with five replications. There was high genotypic coefficient of variability, % broad-sense heritability and genetic advance in traits such as plant height (26.2, 90.7, 51.5), fresh pod length (23.9, 98.5, 48.8), fresh pod width (23.9, 98.5, 48.8), mature pod length (28.6, 98.5, 52.3), branching per plant (29.3, 82.3, 54.8) and pod weight per plant (33.9, 90.0, 63.3), suggesting the effect of additive genes and reliability of selection based on phenotype of these traits for crop improvement. The positive and significant phenotypic and genotypic correlation between plant height at maturity, fresh pod width, seeds per pod and pods per plant, branches per plant with seed weight per plant and pod weight per plant, suggests that selection on the basis of the phenotype of these characters will lead to high seed and pod yield in okra. (Author) 26 refs.

  12. Personality traits below facets: The consensual validity, longitudinal stability, heritability, and utility of personality nuances.

    Science.gov (United States)

    Mõttus, René; Kandler, Christian; Bleidorn, Wiebke; Riemann, Rainer; McCrae, Robert R

    2017-03-01

    It has been argued that facets do not represent the bottom of the personality hierarchy-even more specific personality characteristics, nuances, could be useful for describing and understanding individuals and their differences. Combining 2 samples of German twins, we assessed the consensual validity (correlations across different observers), rank-order stability, and heritability of nuances. Personality nuances were operationalized as the 240 items of the Revised NEO Personality Inventory (NEO-PI-R). Their attributes were examined by analyzing item residuals, controlling for the variance of the facet the item had been assigned to and all other facets. Most nuances demonstrated significant (p personality traits, with median estimates of rank-order stability and heritability being .77 and .52, respectively. Few nuances demonstrated robust associations with age and gender, but many showed incremental, conceptually meaningful, and replicable (across methods and/or samples) predictive validity for a range of interest domains and body mass index. We argue that these narrow personality characteristics constitute a valid level of the personality hierarchy. They may be especially useful for providing a deep and contextualized description of the individual, but also for the prediction of specific outcomes. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  13. Heritability of fear of humans in urban and rural populations of a bird species.

    Science.gov (United States)

    Carrete, Martina; Martínez-Padilla, Jesús; Rodríguez-Martínez, Sol; Rebolo-Ifrán, Natalia; Palma, Antonio; Tella, José L

    2016-08-08

    Flight initiation distance (FID), a measure of an animal's tolerance to human disturbance and a descriptor of its fear of humans, is increasingly employed for conservation purposes and to predict the response of species to urbanization. However, most work devoted to understanding variability in FID has been conducted at the population level and little is still known about inter-individual variability in this behaviour. We estimated the heritability of FID, a factor fundamental to understanding the strength and evolutionary consequences of selection of particular phenotypes associated with human disturbances. We used a population of burrowing owls (Athene cunicularia) monitored long-term and for which FID was previously shown to be highly consistent across an individual's lifespan. Heritability estimates varied between 0.37 and 0.80, depending on the habitat considered (urban-rural) and method used (parent-offspring regressions or animal models). These values are unusually high compared with those previously reported for other behavioural traits. Although more research is needed to fully understand the underlying causes of this resemblance between relatives, selection pressures acting on this behaviour should be seriously considered as an important evolutionary force in animal populations increasingly exposed to human disturbance worldwide.

  14. The heritability of antinociception II: pharmacogenetic mediation of three over-the-counter analgesics in mice.

    Science.gov (United States)

    Wilson, Sonya G; Bryant, Camron D; Lariviere, William R; Olsen, Michael S; Giles, Belinda E; Chesler, Elissa J; Mogil, Jeffrey S

    2003-05-01

    Chromosomal loci containing genes affecting antinociceptive sensitivity to morphine have been identified, but virtually nothing is known about the genetic mediation of sensitivity to over-the-counter analgesics. Such knowledge would be of great clinical interest, as prodigious interindividual variability has been noted in the efficacy of these ubiquitously used drugs. In the present study, we assessed heritability and genetic correlations among three over-the-counter analgesics in mice of 12 inbred mouse strains on the 0.9% acetic acid (i.p.) writhing test. Analgesics included the centrally acting analgesic, acetaminophen (150 mg/kg, s.c.), and the nonsteroidal anti-inflammatory drugs (NSAIDs), indomethacin (40 mg/kg, s.c.) and lysine-acetylsalicylic acid (800 mg/kg, s.c.). Significant strain differences in sensitivity to each of the drugs were observed, with narrow-sense heritability estimates ranging from 23 to 45%. Similar strains were sensitive and resistant, respectively, to the two NSAIDs (r(s) = 0.64). In contrast, a completely different pattern of sensitivities was observed for acetaminophen, implying genetic dissociation (r(s) = 0.29 and 0.02) compared with the NSAIDs. Additional experiments were performed on two strains, C57BL/6 and DBA/2, with extreme sensitivities to acetaminophen. Plasma acetaminophen levels in these strains were not significantly different during the time of antinociception assessment, suggesting the existence of genetic factors affecting acetaminophen pharmacodynamics rather than pharmacokinetics.

  15. Discontinuous gas exchange exhibition is a heritable trait in speckled cockroaches Nauphoeta cinerea.

    Science.gov (United States)

    Schimpf, N G; Matthews, P G D; White, C R

    2013-07-01

    The regulation of insect respiratory gas exchange has long been an area of interest. In particular, the reason why insects from at least five orders exhibit patterns of gas exchange that include regular periods of spiracular closure has been the source of much controversy. Three adaptive hypotheses propose that these discontinuous gas-exchange cycles (DGCs) evolved to either limit water loss across respiratory surfaces, facilitate gas exchange in underground environments or to limit oxidative damage. It is possible that DGCs evolved independently multiple times and for different reasons, but for DGCs to be a plausible target for natural selection, they must be heritable and confer a fitness benefit. In a previous study of cockroaches Nauphoeta cinerea, we demonstrated that DGCs are repeatable and extend survival under food and water restriction. Here, we show for the first time that DGCs are heritable, suggesting that they are a plausible target for natural selection. © 2013 The Authors. Journal of Evolutionary Biology © 2013 European Society For Evolutionary Biology.

  16. Morphological evolution and heritability estimates for some biometric traits in the Murgese horse breed.

    Science.gov (United States)

    Dario, C; Carnicella, D; Dario, M; Bufano, G

    2006-06-30

    A data set concerning 1,816 subjects entered in the Italian Horse Registry from 1925 to 2002 was analyzed to investigate the morphological evolution of the Murgese horse and to obtain useful elements to enhance breeding practices. Three basic body measurements (height at withers, chest girth, and cannon bone circumference) were considered for each subject. Heritabilities were calculated for each parameter to infer the growth and development traits of this breed. Over the past 20 years the Murgese horse has undergone considerable changes, passing from a typical mesomorphic structure (height at withers: 156.30 and 151.04 cm; chest girth: 185.80 and 176.11 cm; cannon bone: 21.10 and 19.82 cm for males and females, respectively) to a mesodolichomorphic structure (height at withers: 160.31 and 156.44 cm; chest girth: 187.89 and 182.48 cm; cannon bone: 21.07 and 20.37 cm, for males and females, respectively). Due to these changes and to its characteristic strength and power, the Murgese, which was once used in agriculture and for meat production (at the end of its life), is now involved in sports, mainly in trekking and equestrian tourism. The heritability estimates for the three body measurements were found to be 0.24, 0.39 and 0.44.

  17. The heritability of shell morphometrics in the freshwater pulmonate gastropod Physa.

    Directory of Open Access Journals (Sweden)

    Robert T Dillon

    Full Text Available The cosmopolitan freshwater pulmonate snail Physa acuta hybridizes readily with Physa carolinae in the laboratory, although their F1 progeny are sterile. The two species differ qualitatively in shell shape, the former bearing a more globose shell and the latter more fusiform. We performed a hybridization experiment, measuring a set of 14 traditional (linear and landmark-based shell morphological variables on even-aged parents and their offspring from both hybrids and purebred control lines. Parent-offspring regression yielded a strikingly high heritability estimate for score on the first relative warp axis, h2 = 0.819 ± 0.073, a result that would seem to confirm the value of geometric morphometrics as a tool for retrieving evolutionary relationships from gastropod shell form. Score on the second relative warp axis was also significantly heritable (h2 = 0.312 ± 0.123, although more moderate, as were scores on second principal components extracted from traditional measurements (correlation h2 = 0.308 ± 0.069, covariance h2 = 0.314 ± 0.050. Although score on the first relative warp axis was significantly correlated with centroid size (p < 0.001, scores on none of the three second axes were so correlated. This result suggests that second axis score might prove especially useful for estimating genetic divergence among mixed-age populations of gastropods sampled from the field.

  18. Application of multiparametric procedures for assessing the heritability of circadian health.

    Science.gov (United States)

    Lopez-Minguez, J; Colodro-Conde, L; Bandín, C; Ordoñana, J R; Garaulet, M; Madrid, J A

    2016-01-01

    At present, the measurement of circadian system status under free-living conditions by the use of sensors is a relatively new technique. The data obtained using these methods are influenced by strong environmental masking factors and artifacts that can affect its recording. Therefore, the use of integrative variables such as TAP, a measure that includes temperature, activity and position that reduces these drawbacks and the number of parameters obtained is necessary. However, the relative genetic contribution to this circadian marker is unknown. The aim of our study was to ascertain the relative importance of genetic influences in TAP, and for each of its components using classical twin models. The study was performed in 53 pairs of female twins [28 monozygotic (MZ) and 25 dizygotic (DZ)] with mean age 52 ± 6 years. Circadian patterns were studied by analyzing temperature, body position and activity for 1 week every 1 min with "Circadianware®.". Genetic influences affecting the variability of each of the measurements were estimated by comparing the observed data in twin pairs. MZ twins showed higher intrapair correlations than DZ twins for most of the parameters. Genetic factors (broad sense heritability) were responsible for about 40-72% of TAP variance in parameters such as mesor, acrophase, amplitude, Rayleigh test, percentage of rhythmicity and circadian function index. We found more homogeneous heritability estimates of the circadian system when using an integrative technique such as TAP than with individual variables alone, suggesting that this measurement can be more reliable and less subject to environmental artifacts.

  19. Familial Risk and Heritability of Cancer Among Twins in Nordic Countries

    Science.gov (United States)

    Mucci, Lorelei A.; Hjelmborg, Jacob B.; Harris, Jennifer R.; Czene, Kamila; Havelick, David J.; Scheike, Thomas; Graff, Rebecca E.; Holst, Klaus; Möller, Sören; Unger, Robert H.; McIntosh, Christina; Nuttall, Elizabeth; Brandt, Ingunn; Penney, Kathryn L.; Hartman, Mikael; Kraft, Peter; Parmigiani, Giovanni; Christensen, Kaare; Koskenvuo, Markku; Holm, Niels V.; Heikkilä, Kauko; Pukkala, Eero; Skytthe, Axel; Adami, Hans-Olov; Kaprio, Jaakko

    2017-01-01

    Importance Estimates of familial cancer risk from population-based studies are essential components of cancer risk prediction. Objective To estimate familial risk and heritability of cancer types in a large twin cohort. Design, Setting, and Participants Prospective study of 80 309 monozygotic and 123 382 same-sex dizygotic twin individuals (N = 203 691) within the population-based registers of Denmark, Finland, Norway, and Sweden. Twins were followed up a median of 32 years between 1943 and 2010. There were 50 990 individuals who died of any cause, and 3804 who emigrated and were lost to follow-up. Exposures Shared environmental and heritable risk factors among pairs of twins. Main Outcomes and Measures The main outcome was incident cancer. Time-to-event analyses were used to estimate familial risk (risk of cancer in an individual given a twin's development of cancer) and heritability (proportion of variance in cancer risk due to interindividual genetic differences) with follow-up via cancer registries. Statistical models adjusted for age and follow-up time, and accounted for censoring and competing risk of death. Results A total of 27 156 incident cancers were diagnosed in 23 980 individuals, translating to a cumulative incidence of 32%. Cancer was diagnosed in both twins among 1383 monozygotic (2766 individuals) and 1933 dizygotic (2866 individuals) pairs. Of these, 38% of monozygotic and 26% of dizygotic pairs were diagnosed with the same cancer type. There was an excess cancer risk in twins whose co-twin was diagnosed with cancer, with estimated cumulative risks that were an absolute 5% (95% CI, 4%-6%) higher in dizygotic (37%; 95% CI, 36%-38%) and an absolute 14% (95% CI, 12%-16%) higher in monozygotic twins (46%; 95% CI, 44%-48%) whose twin also developed cancer compared with the cumulative risk in the overall cohort (32%). For most cancer types, there were significant familial risks and the cumulative risks were higher in monozygotic than dizygotic twins

  20. Heritability of facet-level traits in a cross-cultural twin sample: support for a hierarchical model of personality.

    Science.gov (United States)

    Jang, K L; McCrae, R R; Angleitner, A; Riemann, R; Livesley, W J

    1998-06-01

    The common variance among personality traits can be summarized in the factors of the five-factor model, which are known to be heritable. This study examined heritability of the residual specific variance in facet-level traits from the Revised NEO Personality Inventory. Analyses of raw and residual facet scales across Canadian (183 monozygotic [MZ] and 175 dizogotic [DZ] pairs) and German (435 MZ and 205 DZ pairs) twin samples showed genetic and environmental influences of the same type and magnitude across the 2 samples for most facets. Additive genetic effects accounted for 25% to 65% of the reliable specific variance. Results provide strong support for hierarchical models of personality that posit a large number of narrow traits in addition to a few broader trait factors or domains. Facet-level traits are not simply exemplars of the broad factors they define; they are discrete constructs with their own heritable and thus biological basis.

  1. Heritability Estimation using a Regularized Regression Approach (HERRA): Applicable to continuous, dichotomous or age-at-onset outcome.

    Science.gov (United States)

    Gorfine, Malka; Berndt, Sonja I; Chang-Claude, Jenny; Hoffmeister, Michael; Le Marchand, Loic; Potter, John; Slattery, Martha L; Keret, Nir; Peters, Ulrike; Hsu, Li

    2017-01-01

    The popular Genome-wide Complex Trait Analysis (GCTA) software uses the random-effects models for estimating the narrow-sense heritability based on GWAS data of unrelated individuals without knowing and identifying the causal loci. Many methods have since extended this approach to various situations. However, since the proportion of causal loci among the variants is typically very small and GCTA uses all variants to calculate the similarities among individuals, the estimation of heritability may be unstable, resulting in a large variance of the estimates. Moreover, if the causal SNPs are not genotyped, GCTA sometimes greatly underestimates the true heritability. We present a novel narrow-sense heritability estimator, named HERRA, using well-developed ultra-high dimensional machine-learning methods, applicable to continuous or dichotomous outcomes, as other existing methods. Additionally, HERRA is applicable to time-to-event or age-at-onset outcome, which, to our knowledge, no existing method can handle. Compared to GCTA and LDAK for continuous and binary outcomes, HERRA often has a smaller variance, and when causal SNPs are not genotyped, HERRA has a much smaller empirical bias. We applied GCTA, LDAK and HERRA to a large colorectal cancer dataset using dichotomous outcome (4,312 cases, 4,356 controls, genotyped using Illumina 300K), the respective heritability estimates of GCTA, LDAK and HERRA are 0.068 (SE = 0.017), 0.072 (SE = 0.021) and 0.110 (SE = 5.19 x 10-3). HERRA yields over 50% increase in heritability estimate compared to GCTA or LDAK.

  2. Effect of Rosiglitazone on low-density lipoprotein oxidation in hyperlipidemic rabbits%罗格列酮对高脂血症家兔低密度脂蛋白氧化的影响

    Institute of Scientific and Technical Information of China (English)

    吴炜

    2012-01-01

    Objective To investigate the effect of rosiglitazone on low - density lipoprotein ( LDL ) oxidation in hyperlipidemic rabbits. Methods Twenty - four male New Zealand white rabbits were allocated randomly to three groups fed on standard diet, high lipid diet or high lipid diet supplemented with rosiglitazone ( 50 mg/kg ) for 4 weeks, respectively. Serum levels of lipids, oxidized LDL ( Ox - LDL ) and total antioxidant capacity ( TAC ) were determined at the end of experiment. Following isolation by ultracentrifugation, LDL of different groups was subjected to cupric ion - induced oxidation. Results Rosiglitazone significantly increased serum TAC in hyperlipidemic rabbits, while LDL oxidizability and serum concentration of Ox - LDL were decreased markedly. Rosiglitazone had no significant influence on serum levels of total cholesterol, triglyceride, LDL and high - density lipoprotein. Conclusion Rosiglitazone could effectively suppress LDL oxidation in hyperlipidemic rabbits, which might be attributed, at least partly, to the increased resistance of LDL to oxidation.%目的 研究罗格列酮对高脂血症家兔低密度脂蛋白氧化的影响.方法 采用高脂饮食建立家兔高脂血症模型,观察罗格列酮对血清脂质水平、血清总抗氧化能力(TAC)及血清氧化低密度脂蛋白(Ox-LDL)水平的影响;超速离心法分离低密度脂蛋白(LDL),采用铜离子进行氧化,观察罗格列酮对LDL氧化易感性的影响.结果 罗格列酮可显著提高高脂血症家兔血清TAC,增强LDL抗氧化能力,降低血清Ox-LDL水平,但对血清总胆固醇(TC)等脂质水平无明显影响.结论 罗格列酮可有效抑制高脂血症家兔LDL氧化,其机制与提高血清总抗氧化能力、降低LDL氧化易感性有关.

  3. Heritability and cross-sex genetic correlations of early-life circulating testosterone levels in a wild mammal.

    Science.gov (United States)

    Pavitt, Alyson T; Walling, Craig A; Pemberton, Josephine M; Kruuk, Loeske E B

    2014-11-01

    Testosterone is an important hormone that has been shown to have sex-specific links to fitness in numerous species. Although testosterone concentrations vary substantially between individuals in a population, little is known about its heritable genetic basis or between-sex genetic correlations that determine its evolutionary potential. We found circulating neonatal testosterone levels to be both heritable (0.160 ± 0.064 s.e.) and correlated between the sexes (0.942 ± 0.648 s.e.) in wild red deer calves (Cervus elaphus). This may have important evolutionary implications if, as in adults, the sexes have divergent optima for circulating testosterone levels.

  4. Components of genetic variability and heritability of grain yield of silage maize

    Directory of Open Access Journals (Sweden)

    Sečanski Mile D.

    2004-01-01

    Full Text Available The aim of the present study was to evaluate the following parameters for the grain yield of silage maize: variability of inbred lines and their diallel hybrids, superior-parent heterosis and components of genetic variability and heritability on the basis of the diallel set. The two-year four-replicate trial was set up according to the randomized complete-block design at Zemun Polje. It was determined that a genotype, year and their interaction significantly affected variability of this trait. The highest. i.e. the lowest grain yield, on the average for both investigation years. was recorded in the silage maize inbred lines ZPLB402 and ZPLB405. respectively. The analysis of components of genetic variance for grain yield shows that the additive component (D was lower than the dominant (H1 and H2 genetic variance, while a positive component F and the frequency of dominant (u and recessive (v genes for this observed trait point to prevalence of dominant genes over recessive ones. Furthermore. this is confirmed by the ratio of dominant to recessive genes in parental genotypes for grain yield (Kd/Kr> 1 that is greater than unity in both years of investigation. The estimated value of the average degree of dominance (H1/D1/2 exceeds unity, pointing out to superdominance in inheritance of this trait in both years of investigation. Results of Vr/Vr regression analysis indicate superdominance in inheritance of grain yield. Moreover. a registered presence of non-allelic interaction points out to the need to study effects of epistasis, as it can have a greater significance in certain hybrids. A greater value of dominant than additive variance resulted in high values of broad-sense heritability for grain yield in both investigation years (98.71%, i.e. 97.19% in 1997, i.e. 1998, respectively. and low values of narrow-sense heritability (11.9% in 1997 and 12.2% in 1998.

  5. Heritability and complex segregation analysis of deafness in Jack Russell Terriers

    Directory of Open Access Journals (Sweden)

    Strain George M

    2007-11-01

    Full Text Available Abstract Background The association between patterns of pigmentation and deafness in the dog has a long-documented history, with reports dating back over one hundred years. Long suspected of having a genetic basis, the search for loci with a pronounced influence in the expression of hearing loss in the dog has yet to be successful. No studies in the dog to date have found a possible influence of a specific colour locus associated with deafness. The present study is intended to evaluate the heritability of deafness in the Jack Russell Terrier (JRT, characterize the mode of inheritance, and evaluate the existence of a sex, coat colour, or coat texture influence on the expression of sensorineural deafness. Results The estimation of heritability of deafness in the JRT was 0.22 when deafness was considered a binary (normal/deaf trait and 0.31 when deafness was considered a three-category (normal/unilateral/bilateral deafness. The influence of coat colour in the incidence of JRT deafness was statistically significant, indicating that dogs with more white are more likely to be deaf. The influence of sex or coat texture was not statistically significant in the incidence of JRT deafness. Complex segregation analysis revealed a model of a single locus with a large effect on the binary measure of hearing loss is not supported. Conclusion This is the first attempt, to our knowledge, to characterize a genetic component responsible for deafness in the JRT. The heritability of deafness in the JRT was found to be 0.22 and 0.31 considering deafness to be a two-category or three-category trait, respectively. There appears to be an influence of coat colour on the expression of deafness. In an attempt to characterize the mode of inheritance of deafness in the JRT, a model of a single locus with a large effect on hearing loss is not supported with this data. Further study is needed to determine if a single locus may be influencing deafness in the JRT. While the

  6. Heritability of Thoracic Spine Curvature and Genetic Correlations With Other Spine Traits: The Framingham Study

    Science.gov (United States)

    Yau, Michelle S; Demissie, Serkalem; Zhou, Yanhua; Anderson, Dennis E; Lorbergs, Amanda L; Kiel, Douglas P; Allaire, Brett T; Yang, Laiji; Cupples, L Adrienne; Travison, Thomas G; Bouxsein, Mary L; Karasik, David; Samelson, Elizabeth J

    2017-01-01

    Hyperkyphosis is a common spinal disorder in older adults, characterized by excessive forward curvature of the thoracic spine and adverse health outcomes. The etiology of hyperkyphosis has not been firmly established, but may be related to changes that occur with aging in the vertebrae, discs, joints, and muscles, which function as a unit to support the spine. Determining the contribution of genetics to thoracic spine curvature and the degree of genetic sharing among co-occurring measures of spine health may provide insight into the etiology of hyperkyphosis. The purpose of our study was to estimate heritability of thoracic spine curvature using T4–T12 kyphosis (Cobb) angle and genetic correlations between thoracic spine curvature and vertebral fracture, intervertebral disc height narrowing, facet joint osteoarthritis (OA), lumbar spine volumetric bone mineral density (vBMD), and paraspinal muscle area and density, which were all assessed from computed tomography (CT) images. Participants included 2063 women and men in the second and third generation offspring of the original cohort of the Framingham Study. Heritability of kyphosis angle, adjusted for age, sex, and weight, was 54% (95% confidence interval [CI], 43% to 64%). We found moderate genetic correlations between kyphosis angle and paraspinal muscle area ( ρ^G, −0.46; 95% CI, −0.67 to −0.26), vertebral fracture ( ρ^G, 0.39; 95% CI, 0.18 to 0.61), vBMD ( ρ^G,−0.23; 95% CI, −0.41 to −0.04), and paraspinal muscle density ( ρ^G,−0.22; 95% CI, −0.48 to 0.03). Genetic correlations between kyphosis angle and disc height narrowing ( ρ^G, 0.17; 95% CI, −0.05 to 0.38) and facet joint OA ( ρ^G, 0.05; 95% CI, −0.15 to 0.24) were low. Thoracic spine curvature may be heritable and share genetic factors with other age-related spine traits including trunk muscle size, vertebral fracture, and bone mineral density. PMID:27455046

  7. Heritability of longevity in Large White and Landrace sows using continuous time and grouped data models

    Directory of Open Access Journals (Sweden)

    Sölkner Johann

    2010-05-01

    Full Text Available Abstract Background Using conventional measurements of lifetime, it is not possible to differentiate between productive and non-productive days during a sow's lifetime and this can lead to estimated breeding values favoring less productive animals. By rescaling the time axis from continuous to several discrete classes, grouped survival data (discrete survival time models can be used instead. Methods The productive life length of 12319 Large White and 9833 Landrace sows was analyzed with continuous scale and grouped data models. Random effect of herd*year, fixed effects of interaction between parity and relative number of piglets, age at first farrowing and annual herd size change were included in the analysis. The genetic component was estimated from sire, sire-maternal grandsire, sire-dam, sire-maternal grandsire and animal models, and the heritabilities computed for each model type in both breeds. Results If age at first farrowing was under 43 weeks or above 60 weeks, the risk of culling sows increased. An interaction between parity and relative litter size was observed, expressed by limited culling during first parity and severe risk increase of culling sows having small litters later in life. In the Landrace breed, heritabilities ranged between 0.05 and 0.08 (s.e. 0.014-0.020 for the continuous and between 0.07 and 0.11 (s.e. 0.016-0.023 for the grouped data models, and in the Large White breed, they ranged between 0.08 and 0.14 (s.e. 0.012-0.026 for the continuous and between 0.08 and 0.13 (s.e. 0.012-0.025 for the grouped data models. Conclusions Heritabilities for length of productive life were similar with continuous time and grouped data models in both breeds. Based on these results and because grouped data models better reflect the economical needs in meat animals, we conclude that grouped data models are more appropriate in pig.

  8. Heritability estimates for enteric methane emissions from Holstein cattle measured using noninvasive methods.

    Science.gov (United States)

    Lassen, Jan; Løvendahl, Peter

    2016-03-01

    The objective of this study was to estimate heritability of enteric methane emissions from dairy cattle. Methane (CH4) and CO2 were measured with a portable air-sampler and analyzer unit based on Fourier transform infrared detection. Data were collected on 3,121 Holstein dairy cows from 20 herds using automatic milking systems. Three CH4 phenotypes were acquired: the ratio between CH4 and CO2 in the breath of the cows (CH4_RATIO), the estimated quantified amount of CH4 (in g/d) measured over a week (CH4_GRAMSw), and CH4 intensity, defined as grams of CH4 per liter of milk produced (CH4_MILK). Fat- and protein-corrected milk (FPCM) and live weight data were also derived for the analysis. Data were analyzed using several univariate and bivariate linear animal models. The heritability of CH4_GRAMSw and CH4_MILK was 0.21 with a standard error of 0.06, and the heritability of CH4_RATIO was 0.16 with a standard error of 0.04. The 2 CH4 traits CH4_GRAMSw and CH4_RATIO were genetically highly correlated (rg=0.83) and they were strongly correlated with FPCM, meaning that, in this study, a high genetic potential for milk production will also mean a high genetic potential for CH4 production. The genetic correlation between CH4_MILK and FPCM and live weight showed similar patterns as the other CH4 phenotypes, although the correlations in general were closer to zero. The genetic correlations between the 3 CH4 phenotypes and live weight were low and only just significantly different from zero, meaning there is less indication of a genetic relationship between CH4 emission and live weight of the cow. None of the residual correlations between the ratio of CH4 and CO2, CH4 production in grams per day, FPCM, and live weight were significantly different from zero. The results from this study suggest that CH4 emission is partly under genetic control, that it is possible to decrease CH4 emission from dairy cattle through selection, and that selection for higher milk yield will lead to

  9. Heritability of blood pressure traits and the genetic contribution to blood pressure variance explained by four blood-pressure-related genes.

    NARCIS (Netherlands)

    Rijn, M.J. van; Schut, A.F.; Aulchenko, Y.S.; Deinum, J.; Sayed-Tabatabaei, F.A.; Yazdanpanah, M.; Isaacs, A.; Axenovich, T.I.; Zorkoltseva, I.V.; Zillikens, M.C.; Pols, H.A.; Witteman, J.C.; Oostra, B.A.; Duijn, C.M. van

    2007-01-01

    OBJECTIVE: To study the heritability of four blood pressure traits and the proportion of variance explained by four blood-pressure-related genes. METHODS: All participants are members of an extended pedigree from a Dutch genetically isolated population. Heritability and genetic correlations of systo

  10. Heritability of blood pressure traits and the genetic contribution to blood pressure variance explained by four blood-pressure-related genes.

    NARCIS (Netherlands)

    Rijn, M.J. van; Schut, A.F.; Aulchenko, Y.S.; Deinum, J.; Sayed-Tabatabaei, F.A.; Yazdanpanah, M.; Isaacs, A.; Axenovich, T.I.; Zorkoltseva, I.V.; Zillikens, M.C.; Pols, H.A.; Witteman, J.C.; Oostra, B.A.; Duijn, C.M. van

    2007-01-01

    OBJECTIVE: To study the heritability of four blood pressure traits and the proportion of variance explained by four blood-pressure-related genes. METHODS: All participants are members of an extended pedigree from a Dutch genetically isolated population. Heritability and genetic correlations of

  11. Methodological Considerations in Estimation of Phenotype Heritability Using Genome-Wide SNP Data, Illustrated by an Analysis of the Heritability of Height in a Large Sample of African Ancestry Adults

    Science.gov (United States)

    Chen, Fang; He, Jing; Zhang, Jianqi; Chen, Gary K.; Thomas, Venetta; Ambrosone, Christine B.; Bandera, Elisa V.; Berndt, Sonja I.; Bernstein, Leslie; Blot, William J.; Cai, Qiuyin; Carpten, John; Casey, Graham; Chanock, Stephen J.; Cheng, Iona; Chu, Lisa; Deming, Sandra L.; Driver, W. Ryan; Goodman, Phyllis; Hayes, Richard B.; Hennis, Anselm J. M.; Hsing, Ann W.; Hu, Jennifer J.; Ingles, Sue A.; John, Esther M.; Kittles, Rick A.; Kolb, Suzanne; Leske, M. Cristina; Monroe, Kristine R.; Murphy, Adam; Nemesure, Barbara; Neslund-Dudas, Christine; Nyante, Sarah; Ostrander, Elaine A; Press, Michael F.; Rodriguez-Gil, Jorge L.; Rybicki, Ben A.; Schumacher, Fredrick; Stanford, Janet L.; Signorello, Lisa B.; Strom, Sara S.; Stevens, Victoria; Van Den Berg, David; Wang, Zhaoming; Witte, John S.; Wu, Suh-Yuh; Yamamura, Yuko; Zheng, Wei; Ziegler, Regina G.; Stram, Alexander H.; Kolonel, Laurence N.; Marchand, Loïc Le; Henderson, Brian E.; Haiman, Christopher A.; Stram, Daniel O.

    2015-01-01

    Height has an extremely polygenic pattern of inheritance. Genome-wide association studies (GWAS) have revealed hundreds of common variants that are associated with human height at genome-wide levels of significance. However, only a small fraction of phenotypic variation can be explained by the aggregate of these common variants. In a large study of African-American men and women (n = 14,419), we genotyped and analyzed 966,578 autosomal SNPs across the entire genome using a linear mixed model variance components approach implemented in the program GCTA (Yang et al Nat Genet 2010), and estimated an additive heritability of 44.7% (se: 3.7%) for this phenotype in a sample of evidently unrelated individuals. While this estimated value is similar to that given by Yang et al in their analyses, we remain concerned about two related issues: (1) whether in the complete absence of hidden relatedness, variance components methods have adequate power to estimate heritability when a very large number of SNPs are used in the analysis; and (2) whether estimation of heritability may be biased, in real studies, by low levels of residual hidden relatedness. We addressed the first question in a semi-analytic fashion by directly simulating the distribution of the score statistic for a test of zero heritability with and without low levels of relatedness. The second question was addressed by a very careful comparison of the behavior of estimated heritability for both observed (self-reported) height and simulated phenotypes compared to imputation R2 as a function of the number of SNPs used in the analysis. These simulations help to address the important question about whether today's GWAS SNPs will remain useful for imputing causal variants that are discovered using very large sample sizes in future studies of height, or whether the causal variants themselves will need to be genotyped de novo in order to build a prediction model that ultimately captures a large fraction of the variability

  12. Methodological Considerations in Estimation of Phenotype Heritability Using Genome-Wide SNP Data, Illustrated by an Analysis of the Heritability of Height in a Large Sample of African Ancestry Adults.

    Directory of Open Access Journals (Sweden)

    Fang Chen

    Full Text Available Height has an extremely polygenic pattern of inheritance. Genome-wide association studies (GWAS have revealed hundreds of common variants that are associated with human height at genome-wide levels of significance. However, only a small fraction of phenotypic variation can be explained by the aggregate of these common variants. In a large study of African-American men and women (n = 14,419, we genotyped and analyzed 966,578 autosomal SNPs across the entire genome using a linear mixed model variance components approach implemented in the program GCTA (Yang et al Nat Genet 2010, and estimated an additive heritability of 44.7% (se: 3.7% for this phenotype in a sample of evidently unrelated individuals. While this estimated value is similar to that given by Yang et al in their analyses, we remain concerned about two related issues: (1 whether in the complete absence of hidden relatedness, variance components methods have adequate power to estimate heritability when a very large number of SNPs are used in the analysis; and (2 whether estimation of heritability may be biased, in real studies, by low levels of residual hidden relatedness. We addressed the first question in a semi-analytic fashion by directly simulating the distribution of the score statistic for a test of zero heritability with and without low levels of relatedness. The second question was addressed by a very careful comparison of the behavior of estimated heritability for both observed (self-reported height and simulated phenotypes compared to imputation R2 as a function of the number of SNPs used in the analysis. These simulations help to address the important question about whether today's GWAS SNPs will remain useful for imputing causal variants that are discovered using very large sample sizes in future studies of height, or whether the causal variants themselves will need to be genotyped de novo in order to build a prediction model that ultimately captures a large fraction of the

  13. Parameters in dynamic models of complex traits are containers of missing heritability.

    Directory of Open Access Journals (Sweden)

    Yunpeng Wang

    Full Text Available Polymorphisms identified in genome-wide association studies of human traits rarely explain more than a small proportion of the heritable variation, and improving this situation within the current paradigm appears daunting. Given a well-validated dynamic model of a complex physiological trait, a substantial part of the underlying genetic variation must manifest as variation in model parameters. These parameters are themselves phenotypic traits. By linking whole-cell phenotypic variation to genetic variation in a computational model of a single heart cell, incorporating genotype-to-parameter maps, we show that genome-wide association studies on parameters reveal much more genetic variation than when using higher-level cellular phenotypes. The results suggest that letting such studies be guided by computational physiology may facilitate a causal understanding of the genotype-to-phenotype map of complex traits, with strong implications for the development of phenomics technology.

  14. Heritability of Gestational Weight Gain-A Swedish Register-Based Twin Study

    DEFF Research Database (Denmark)

    Andersson, Elina Scheers; Silventoinen, Karri; Tynelius, Per;

    2015-01-01

    on the variation in GWG in the first and second pregnancy in monozygotic (MZ) and dizygotic (DZ) twin mother-pairs. Further, we explored if any co-variance existed between factors influencing the variation in GWG of the mothers' first and second pregnancies. By using Swedish nationwide record-linkage data, we...... modeling (SEM) to assess the contribution of genetic, shared, and unique environmental factors to the variation in GWG. A bivariate Cholesky decomposition model was used for the subanalysis. We found that genetic factors explained 43% (95% CI: 36-51%) of the variation in GWG in the first pregnancy and 26......% (95% CI: 16-36%) in the second pregnancy. The remaining variance was explained by unique environmental factors. Both overlapping and distinct genetic and unique environmental factors influenced GWG in the first and the second pregnancy. This study showed that GWG has a moderate heritability...

  15. Disentangling environmental and heritable nestmate recognition cues in a carpenter ant

    DEFF Research Database (Denmark)

    van Zweden, Jelle S; Dreier, Stephanie; d'Ettorre, Patrizia

    2009-01-01

    Discriminating between group members and strangers is a key feature of social life. Nestmate recognition is very effective in social insects and is manifested by aggression and rejection of alien individuals, which are prohibited to enter the nest. Nestmate recognition is based on the quantitative...... and behavioral analyses. We show that nestmate recognition was not impaired by constant environment, even though cuticular hydrocarbon profiles changed over time and were slightly converging among colonies. Linear hydrocarbons increased over time, especially in queenless colonies, but appeared to have weak...... diagnostic power between colonies. The presence of a queen had little influence on nestmate discrimination abilities. Our results suggest that heritable cues of workers are the dominant factor influencing nestmate discrimination in these carpenter ants and highlight the importance of colony kin structure...

  16. Heritabilities and genetic correlations of body weights and feather length in growing Muscovy selected in Taiwan.

    Science.gov (United States)

    Hu, Y H; Poivey, J P; Rouvier, R; Wang, C T; Tai, C

    1999-12-01

    1. Heritabilities and genetic correlations in the base population of a closed strain of Muscovy duck, moderately selected for body weight at 10 weeks of age, have been estimated from the data of 9 successive generations for the following traits: male and female body weight at 10 and 18 weeks of age (BW10m, BW18m, BW10f, BW18f) and length of the 8th primary feather at 10 weeks of age (F110m, F110f). 2. Multivariate REML with an animal model was used, pooling data from the 9 generations (3283 and 3289 male and female offspring respectively). The same trait expressed in male and female was considered as 2 different traits. 3. The 8th primary feather was longer in females than in males by 6% to 22% at 10 weeks of age. Body weight was heavier in males than in females by 42% to 58% at 10 weeks of age and by 57% to 75% at 18 weeks of age. 3. The heritability estimates for body weight traits showed moderate values, being a little higher for females than for males at the same age, increasing with age from h2=0.24 at BW10m to h2=0.43 at BW18f. 4. The heritability estimates for feather length showed that a greater response would be obtained in selection for male feather length (h2=0.37) than for female length (h2=0.14). Both have high genetic correlations with body weight so they could be indirectly improved. 5. Heritabilities of the difference in body weights between males and females at 10 weeks (h2=0.07) and 18 weeks of age (h2=0.10) were small, as well as for feather length (h2=0.10). It would probably be difficult to modify sexual dimorphism in body weight through selection. 6. Genetic correlations between BW10m, BW18m and BW10f, BW18f were respectively r(g)=0.77 and r(g)=0.80. They were larger for body weight at the same ages between males and females, r(g)=0.90 (r(g)=0.88 between F110m and F110f). Body weight in males and females at the same age should be better considered as 2 different traits in a selection programme. 7. The cumulated predicted genetic gains

  17. Heritability in political interest and efficacy across cultures: Denmark and the United States.

    Science.gov (United States)

    Klemmensen, Robert; Hatemi, Peter K; Hobolt, Sara B; Skytthe, Axel; Nørgaard, Asbjørn S

    2012-02-01

    Interest in politics is important for a host of political behaviors and beliefs. Yet little is known about where political interest comes from. Most studies exploring the source of political interest focus on parental influences, economic status, and opportunity. Here, we investigate an alternative source: genetic transmission. Using two twin samples, one drawn from Denmark and the other from USA, we find that there is a high degree of heritability in political interest. Furthermore, we show that interest in politics and political efficacy share the same underlying, latent genetic factor. These findings add to the growing body of literature that documents political behaviors and attitudes as not simply the result of socialization, but also as part of an individual's genetically informed disposition.

  18. Heritable transmission of stress resistance by high dietary glucose in Caenorhabditis elegans.

    Science.gov (United States)

    Tauffenberger, Arnaud; Parker, J Alex

    2014-05-01

    Glucose is a major energy source and is a key regulator of metabolism but excessive dietary glucose is linked to several disorders including type 2 diabetes, obesity and cardiac dysfunction. Dietary intake greatly influences organismal survival but whether the effects of nutritional status are transmitted to the offspring is an unresolved question. Here we show that exposing Caenorhabditis elegans to high glucose concentrations in the parental generation leads to opposing negative effects on fecundity, while having protective effects against cellular stress in the descendent progeny. The transgenerational inheritance of glucose-mediated phenotypes is dependent on the insulin/IGF-like signalling pathway and components of the histone H3 lysine 4 trimethylase complex are essential for transmission of inherited phenotypes. Thus dietary over-consumption phenotypes are heritable with profound effects on the health and survival of descendants.

  19. Twin study of heritability of eating bread in Danish and Finnish men and women

    DEFF Research Database (Denmark)

    Hasselbalch, Ann Louise; Silventoinen, Karri; Keskitalo, Kaisu;

    2010-01-01

    cohorts included 575 Danish (age range 18-67 years) and 2009 Finnish (age range 22-27 years) adult twin pairs. Self-reported frequency of eating bread was obtained by food frequency questionnaires. Univariate models based on linear structural equations for twin data were used to estimate the relative......Bread is an elementary part of the western diet, and especially rye bread is regarded as an important source of fibre. We investigated the heritability of eating bread in terms of choice of white and rye bread and use-frequency of bread in female and male twins in Denmark and Finland. The study...... influence on intake of white bread was moderate (24-31%), while the genetic influence on intake of rye bread was higher in men (41-45%) than in women (24-33%). Environmental influences shared by the twins were not significant. Consumption of bread as well as choice of bread is influenced by genetic...

  20. Genetic effects of 1,3-butadiene and associated risk for heritable damage.

    Science.gov (United States)

    Pacchierotti, F; Adler, I D; Anderson, D; Brinkworth, M; Demopoulos, N A; Lähdetie, J; Osterman-Golkar, S; Peltonen, K; Russo, A; Tates, A; Waters, R

    1998-01-16

    A summary of the results of the studies conducted in the EU Project "Multi-endpoint analysis of genetic damage induced by 1,3-butadiene and its major metabolites in somatic and germ cells of mice, rats and man" is presented. Results of the project are summarized on the detection of DNA and hemoglobin adducts, on the cytotoxic and clastogenic effects in somatic and germinal cells of mice and rats, on the induction of somatic mutations at the hprt locus of experimental rodents and occupationally exposed workers, on the induction of dominant lethal mutations in mice and rats, and on heritable translocations induced in mice, after exposure to butadiene (BD) or its major metabolites, butadiene monoepoxide (BMO), diepoxybutane (DEB) and butadiene diolepoxide (BDE). The primary goal of this project was to collect experimental data on the genetic effects of BD in order to estimate the germ cell genetic risk to humans of exposure to BD. To achieve this, the butadiene exposure are based on data for heritable translocations and bone marrow micronuclei induced in mice and chromosome aberrations observed in lymphocytes of exposed workers. A doubling dose for heritable translocations in human germ cells of 4900 ppm/h is estimated, which, assuming cumulative BD exposure over the sensitive period of spermatogenesis, corresponds to 5-6 weeks of continuous exposure at the workplace to 20-25 ppm. Alternatively, the rate of heritable translocation induction per ppm/h of BD exposure is estimated to be approximately 0.8 per million live born, compared to a spontaneous incidence of balanced translocations in humans of approximately 800 per million live born. These estimates have large confidence intervals and are only intended to indicate orders of magnitude of human genetic risk. These risk estimates are based on data from germ cells of BD-exposed male mice. The demonstration that clastogenic damage was induced by DEB in preovulatory oocytes at doses which were not ovotoxic implies that

  1. Heritable genome editing with CRISPR/Cas9 induces anosmia in a crop pest moth.

    Science.gov (United States)

    Koutroumpa, Fotini A; Monsempes, Christelle; François, Marie-Christine; de Cian, Anne; Royer, Corinne; Concordet, Jean-Paul; Jacquin-Joly, Emmanuelle

    2016-07-12

    Lepidoptera suffer critical lack of genetic tools and heritable genome edition has been achieved only in a few model species. Here we demonstrate that the CRISPR/Cas9 system is highly efficient for genome editing in a non-model crop pest Lepidoptera, the noctuid moth Spodoptera littoralis. We knocked-out the olfactory receptor co-receptor Orco gene to investigate its function in Lepidoptera olfaction. We find that 89.6% of the injected individuals carried Orco mutations, 70% of which transmitted them to the next generation. CRISPR/Cas9-mediated Orco knockout caused defects in plant odor and sex pheromone olfactory detection in homozygous individuals. Our work genetically defines Orco as an essential OR partner for both host and mate detection in Lepidoptera, and demonstrates that CRISPR/Cas9 is a simple and highly efficient genome editing technique in noctuid pests opening new routes for gene function analysis and the development of novel pest control strategies.

  2. Heritability of neck pain: a population-based study of 33,794 Danish twins

    DEFF Research Database (Denmark)

    Fejer, R; Hartvigsen, J; Kyvik, K O

    2006-01-01

    OBJECTIVES: To determine the heritability of neck pain in a large population-based study of twins. METHODS: Data on lifetime prevalence of neck pain from a population-based cross-sectional survey of Danish twins were used. To assess twin similarity, the probandwise concordance rates, zygosity......-specific odds ratios and tetrachoric correlations were calculated and compared for monozygotic and dizygotic twins. Using biometric modelling (structural equation modelling), the genetic and environmental contributions of the liability to neck pain were estimated. RESULTS: A total of 33,794 twins (response rate...... 73%) answered the questions regarding neck pain. Probandwise concordance rates, zygosity-specific odds ratios and tetrachoric correlations showed a significant genetic effect on neck pain. An overall additive genetic component of 44% was found. The genetic effect decreased with age, accounting...

  3. The heritability of telomere length among the elderly and oldest-old

    DEFF Research Database (Denmark)

    Bischoff, Claus; Graakjaer, Jesper; Petersen, Hans Christian;

    2005-01-01

    A tight link exists between telomere length and both population doublings of a cell culture and age of a given organism. The more population doublings of the cell culture or the higher the age of the organism, the shorter the telomeres. The proposed model for telomere shortening, called the end...... replication problem, explains why the telomere erodes at each cellular turnover. Telomere length is regulated by a number of associated proteins through a number of different signaling pathways. The determinants of telomere length were studied using whole blood samples from 287 twin pairs aged 73 to 95 years....... Structural equation models revealed that a model including additive genetic effects and non-shared environment was the best fitting model and that telomere length was moderately heritable, with an estimate that was sensitive to the telomere length standardization procedure. Sex-specific analyses showed lower...

  4. IQ heritability estimation: analyzing genetically-informative data with structural equation models.

    Science.gov (United States)

    Gallardo Pujol, David; García-Forero, Carlos; Kramp, Uwe; Maydeu-Olivares, Albert; Andrés-Pueyo, Antonio

    2007-02-01

    When analyzing genetic data, Structural Equations Modeling (SEM) provides a straightforward methodology to decompose phenotypic variance using a model-based approach. Furthermore, several models can be easily implemented, tested, and compared using SEM, allowing the researcher to obtain valuable information about the sources of variability. This methodology is briefly described and applied to re-analyze a Spanish set of IQ data using the biometric ACE model. In summary, we report heritability estimates that are consistent with those of previous studies and support substantial genetic contribution to phenotypic IQ; around 40% of the variance can be attributable to it. With regard to the environmental contribution, shared environment accounts for 50% of the variance, and non-shared environment accounts for the remaining 10%. These results are discussed in the text.

  5. Childhood intelligence is heritable, highly polygenic and associated with FNBP1L.

    Science.gov (United States)

    Benyamin, B; Pourcain, Bst; Davis, O S; Davies, G; Hansell, N K; Brion, M-J A; Kirkpatrick, R M; Cents, R A M; Franić, S; Miller, M B; Haworth, C M A; Meaburn, E; Price, T S; Evans, D M; Timpson, N; Kemp, J; Ring, S; McArdle, W; Medland, S E; Yang, J; Harris, S E; Liewald, D C; Scheet, P; Xiao, X; Hudziak, J J; de Geus, E J C; Jaddoe, V W V; Starr, J M; Verhulst, F C; Pennell, C; Tiemeier, H; Iacono, W G; Palmer, L J; Montgomery, G W; Martin, N G; Boomsma, D I; Posthuma, D; McGue, M; Wright, M J; Davey Smith, G; Deary, I J; Plomin, R; Visscher, P M

    2014-02-01

    Intelligence in childhood, as measured by psychometric cognitive tests, is a strong predictor of many important life outcomes, including educational attainment, income, health and lifespan. Results from twin, family and adoption studies are consistent with general intelligence being highly heritable and genetically stable throughout the life course. No robustly associated genetic loci or variants for childhood intelligence have been reported. Here, we report the first genome-wide association study (GWAS) on childhood intelligence (age range 6-18 years) from 17,989 individuals in six discovery and three replication samples. Although no individual single-nucleotide polymorphisms (SNPs) were detected with genome-wide significance, we show that the aggregate effects of common SNPs explain 22-46% of phenotypic variation in childhood intelligence in the three largest cohorts (P=3.9 × 10(-15), 0.014 and 0.028). FNBP1L, previously reported to be the most significantly associated gene for adult intelligence, was also significantly associated with childhood intelligence (P=0.003). Polygenic prediction analyses resulted in a significant correlation between predictor and outcome in all replication cohorts. The proportion of childhood intelligence explained by the predictor reached 1.2% (P=6 × 10(-5)), 3.5% (P=10(-3)) and 0.5% (P=6 × 10(-5)) in three independent validation cohorts. Given the sample sizes, these genetic prediction results are consistent with expectations if the genetic architecture of childhood intelligence is like that of body mass index or height. Our study provides molecular support for the heritability and polygenic nature of childhood intelligence. Larger sample sizes will be required to detect individual variants with genome-wide significance.

  6. Familial Aggregation and Heritability of Schizophrenia and Co-aggregation of Psychiatric Illnesses in Affected Families

    Science.gov (United States)

    Chou, I-Jun; Kuo, Chang-Fu; Huang, Yu-Shu; Valdes, Ana M; See, Lai-Chu; Yu, Kuang-Hui; Huang, Lu-Shuang; Tseng, Wen-Yi; Zhang, Weiya; Doherty, Michael

    2017-01-01

    Abstract Strong familial aggregation of schizophrenia has been reported but there is uncertainty concerning the degree of genetic contribution to the phenotypic variance of the disease. This study aimed to examine the familial aggregation and heritability of schizophrenia, and the relative risks (RRs) of other psychiatric diseases, in relatives of people with schizophrenia using the Taiwan National Health Insurance Database. The study population included individuals with affected first-degree or second-degree relatives identified from all beneficiaries (n = 23 422 955) registered in 2013. Diagnoses of schizophrenia made by psychiatrists were ascertained between January 1, 1996 and December 31, 2013. Having an affected co-twin, first-degree relative, second-degree relative, or spouse was associated with an adjusted RR (95% CI) of 37.86 (30.55–46.92), 6.30 (6.09–6.53), 2.44 (1.91–3.12), and 1.88 (1.64–2.15), respectively. Compared with the general population, individuals with one affected first-degree relative had a RR (95% CI) of 6.00 (5.79–6.22) and those with 2 or more had a RR (95% CI) of 14.66 (13.00–16.53) for schizophrenia. The accountability for the phenotypic variance of schizophrenia was 47.3% for genetic factors, 15.5% for shared environmental factors, and 37.2% for non-shared environmental factors. The RR (95% CI) in individuals with a first-degree relative with schizophrenia was 3.49 (3.34–3.64) for mood disorders and 3.91 (3.35–4.57) for delusional disorders. A family history of schizophrenia is therefore associated with a higher risk of developing schizophrenia, mood disorders, and delusional disorders. Heritability and environmental factors each account for half of the phenotypic variance of schizophrenia. PMID:27872260

  7. Non-unity molecular heritability demonstrated by continuous evolution in vitro

    Science.gov (United States)

    Schmitt, T.; Lehman, N.

    1999-01-01

    INTRODUCTION: When catalytic RNA is evolved in vitro, the molecule's chemical reactivity is usually the desired selection target. Sometimes the phenotype of a particular RNA molecule cannot be unambiguously determined from its genotype, however. This can occur if a nucleotide sequence can adopt multiple folded states, an example of non-unity heritability (i.e. one genotype gives rise to more than one phenotype). In these cases, more rounds of selection are required to achieve a phenotypic shift. We tested the influence of non-unity heritability at the molecular level by selecting for variants of a ligase ribozyme via continuous evolution. RESULTS: During 20 bursts of continuous evolution of a 152-nucleotide ligase ribozyme in which the Mg2+ concentration was periodically lowered, a nine-error variant of the starting 'wild-type' molecule became dominant in the last eight bursts. This variant appears to be more active than the wild type. Kinetic analyses of the mutant suggest that it may not possess a higher first-order catalytic rate constant, however. Examination of the multiple RNA conformations present under the continuous evolution conditions suggests that the mutant is superior to the wild type because it is less likely to misfold into inactive conformers. CONCLUSIONS: The evolution of genotypes that are more likely to exhibit a particular phenotype is an epiphenomenon usually ascribed only to complex living systems. We show that this can occur at the molecular level, demonstrating that in vitro systems may have more life-like characteristics than previously thought, and providing additional support for an RNA world.

  8. Genetic Diversity, Population Structure, and Heritability of Fruit Traits in Capsicum annuum.

    Directory of Open Access Journals (Sweden)

    Rachel P Naegele

    Full Text Available Cultivated pepper (Capsicum annuum is a phenotypically diverse species grown throughout the world. Wild and landrace peppers are typically small-fruited and pungent, but contain many important traits such as insect and disease resistance. Cultivated peppers vary dramatically in size, shape, pungency, and color, and often lack resistance traits. Fruit characteristics (e.g. shape and pericarp thickness are major determinants for cultivar selection, and their association with disease susceptibility can reduce breeding efficacy. This study evaluated a diverse collection of peppers for mature fruit phenotypic traits, correlation among fruit traits and Phytophthora fruit rot resistance, genetic diversity, population structure, and trait broad sense heritability. Significant differences within all fruit phenotype categories were detected among pepper lines. Fruit from Europe had the thickest pericarp, and fruit from Ecuador had the thinnest. For fruit shape index, fruit from Africa had the highest index, while fruit from Europe had the lowest. Five genetic clusters were detected in the pepper population and were significantly associated with fruit thickness, end shape, and fruit shape index. The genetic differentiation between clusters ranged from little to very great differentiation when grouped by the predefined categories. Broad sense heritability for fruit traits ranged from 0.56 (shoulder height to 0.98 (pericarp thickness. When correlations among fruit phenotypes and fruit disease were evaluated, fruit shape index was negatively correlated with pericarp thickness, and positively correlated with fruit perimeter. Pepper fruit pericarp, perimeter, and width had a slight positive correlation with Phytophthora fruit rot, whereas fruit shape index had a slight negative correlation.

  9. Genetic Diversity, Population Structure, and Heritability of Fruit Traits in Capsicum annuum

    Science.gov (United States)

    Naegele, Rachel P.; Mitchell, Jenna; Hausbeck, Mary K.

    2016-01-01

    Cultivated pepper (Capsicum annuum) is a phenotypically diverse species grown throughout the world. Wild and landrace peppers are typically small-fruited and pungent, but contain many important traits such as insect and disease resistance. Cultivated peppers vary dramatically in size, shape, pungency, and color, and often lack resistance traits. Fruit characteristics (e.g. shape and pericarp thickness) are major determinants for cultivar selection, and their association with disease susceptibility can reduce breeding efficacy. This study evaluated a diverse collection of peppers for mature fruit phenotypic traits, correlation among fruit traits and Phytophthora fruit rot resistance, genetic diversity, population structure, and trait broad sense heritability. Significant differences within all fruit phenotype categories were detected among pepper lines. Fruit from Europe had the thickest pericarp, and fruit from Ecuador had the thinnest. For fruit shape index, fruit from Africa had the highest index, while fruit from Europe had the lowest. Five genetic clusters were detected in the pepper population and were significantly associated with fruit thickness, end shape, and fruit shape index. The genetic differentiation between clusters ranged from little to very great differentiation when grouped by the predefined categories. Broad sense heritability for fruit traits ranged from 0.56 (shoulder height) to 0.98 (pericarp thickness). When correlations among fruit phenotypes and fruit disease were evaluated, fruit shape index was negatively correlated with pericarp thickness, and positively correlated with fruit perimeter. Pepper fruit pericarp, perimeter, and width had a slight positive correlation with Phytophthora fruit rot, whereas fruit shape index had a slight negative correlation. PMID:27415818

  10. Heterodimeric TALENs induce targeted heritable mutations in the crustacean Daphnia magna

    Directory of Open Access Journals (Sweden)

    Akiko Naitou

    2015-02-01

    Full Text Available Transcription activator-like effector nucleases (TALENs are artificial nucleases harboring a customizable DNA-binding domain and a FokI nuclease domain. The high specificity of the DNA-binding domain and the ease of design have enabled researchers to use TALENs for targeted mutagenesis in various organisms. Here, we report the development of TALEN-dependent targeted gene disruption in the crustacean Daphnia magna, the emerging model for ecological and toxicological genomics. First, a reporter transgene DsRed2 (EF1α-1::DsRed2 was targeted. Using the Golden Gate method with a GoldyTALEN scaffold, we constructed homodimeric and heterodimeric TALENs containing wild-type and ELD/KKR FokI domains. mRNAs that coded for either the customized homodimeric or heterodimeric TALENs were injected into one-cell-stage embryos. The high mortality of embryos injected with homodimeric TALEN mRNAs prevented us from detecting mutations. In contrast, embryos injected with heterodimeric TALEN mRNAs survived and 78%–87% of the adults lost DsRed2 fluorescence in a large portion of cells throughout the body. In addition, these adults produced non-fluorescent progenies, all of which carried mutations at the dsRed2 locus. We also tested heterodimeric TALENs targeted for the endogenous eyeless gene and found that biallelic mutations could be transmitted through germ line cells at a rate of up to 22%. Both somatic and heritable mutagenesis efficiencies of TALENs were higher than those of the CRISPR/Cas9 system that we recently developed. These results suggest that the TALEN system may efficiently induce heritable mutations into the target genes, which will further contribute to the progress of functional genomics in D. magna.

  11. Heritability, phenotypic and genotypic correlations of Peanut bud necrosis virus (PBNV reaction parameters in peanut

    Directory of Open Access Journals (Sweden)

    Aran Patanothai

    2006-05-01

    Full Text Available Peanut bud necrosis disease (PBND caused by Peanut bud necrosis virus (PBNV is an important disease of peanut (Arachis hypogaea L. in Thailand especially during the dry season. Host plant resistance is one of the effective methods to control the disease. The objectives of this study were to estimate broad sense heritability and to evaluate phenotypic and genotypic correlation between PBND score and PBND incidence in the F4 generation of 10 crosses of peanut. A randomized complete block design with 4 replications was used for testing the mentioned F3 families in F4 generation at two locations in Kalasin province in the Northeast of Thailand. Characters under study were PBND score and PBND incidence (percent infected plants evaluated at 30, 40, 50, 60, 70, and 90 days after sowing (DAS. The 50 and 60 day data are reported herein. There were significant differences among crosses for PBND score and PBND incidence. Means for PBND score and PBND incidence of resistant x susceptible group were intermediate between resistant x resistant group and susceptible x susceptible one. ICGV 86388 x IC 34 and IC 10 x KK 4 had lower PBND score and PBND incidence than the other crosses. Heritability estimates for PBND score and PBND incidence evaluated at 50 and 60 DAS were moderate to high, ranging from 0.27 to 0.90, revealing that families that had low PBND score and PBND incidence could be readily identified in the F4 generation. Phenotypic and genotypic correlations between PBND score and PBND incidence were closely associated, indicating that single parameter evaluation is sufficient. PBND incidence is more suitable than PBND score because of its simplicity.

  12. Heritability of brain activity related to response inhibition: A longitudinal genetic study in adolescent twins.

    Science.gov (United States)

    Anokhin, Andrey P; Golosheykin, Simon; Grant, Julia D; Heath, Andrew C

    2017-05-01

    The ability to inhibit prepotent but context- or goal-inappropriate responses is essential for adaptive self-regulation of behavior. Deficits in response inhibition, a key component of impulsivity, have been implicated as a core dysfunction in a range of neuropsychiatric disorders such as ADHD and addictions. Identification of genetically transmitted variation in the neural underpinnings of response inhibition can help to elucidate etiological pathways to these disorders and establish the links between genes, brain, and behavior. However, little is known about genetic influences on the neural mechanisms of response inhibition during adolescence, a developmental period characterized by weak self-regulation of behavior. Here we investigated heritability of ERPs elicited in a Go/No-Go task in a large sample of adolescent twins assessed longitudinally at ages 12, 14, and 16. Genetic analyses showed significant heritability of inhibition-related frontal N2 and P3 components at all three ages, with 50 to 60% of inter-individual variability being attributable to genetic factors. These genetic influences included both common genetic factors active at different ages and novel genetic influences emerging during development. Finally, individual differences in the rate of developmental changes from age 12 to age 16 were significantly influenced by genetic factors. In conclusion, the present study provides the first evidence for genetic influences on neural correlates of response inhibition during adolescence and suggests that ERPs elicited in the Go/No-Go task can serve as intermediate neurophysiological phenotypes (endophenotypes) for the study of disinhibition and impulse control disorders. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Heterodimeric TALENs induce targeted heritable mutations