Antineutrophil cytoplasm antibody: positivity and clinical correlation.

Science.gov (United States)

Martínez Téllez, Goitybell; Torres Rives, Bárbara; Rangel Velázquez, Suchiquil; Sánchez Rodríguez, Vicky; Ramos Ríos, María Antonia; Fuentes Smith, Lisset Evelyn

2015-01-01

To determine positivity and clinical correlation of anti-neutrophil cytoplasmic antibodies (ANCA), taking into account the interference of antinuclear antibodies (ANA). A prospective study was conducted in the Laboratory of Immunology of the National Cuban Center of Medical Genetic during one year. Two hounded sixty-seven patients with indication for ANCA determination were included. ANCA and ANA determinations with different cut off points and assays were determined by indirect immunofluorescense. Anti proteinase 3 and antimyeloperoxidase antibodies were determined by ELISA. Most positivity for ANCA was seen in patients with ANCA associated, primary small-vessel vasculitides, rheumatoid arthritis and systemic lupus erythematosus. Presence of ANCA without positivity for proteinase 3 and myeloperoxidase was higher in patients with ANA and little relation was observed between the perinuclear pattern confirmed in formalin and specificity by myeloperoxidase. Highest sensibility and specificity values for vasculitides diagnostic were achieved by ANCA determination using indirect immunofluorescense with a cut off 1/80 and confirming antigenic specificities with ELISA. ANCA can be present in a great number of chronic inflammatory or autoimmune disorders in the population studied. This determination using indirect immunofluorescence and following by ELISA had a great value for vasculitis diagnosis. Anti mieloperoxidasa assay has a higher utility than the formalin assay when ANA is present. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

Beliefs in genetic determinism and attitudes towards psychiatric genetic research: psychometric scale properties, construct associations, demographic correlates, and cross-cultural comparisons.

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Voracek, Martin; Swami, Viren; Loibl, Lisa Mariella; Furnham, Adrian

2007-12-01

Using two new scales, this study examined beliefs in genetic determinism and attitudes towards psychiatric genetic research in student samples from Austria, Malaysia, Romania, and the United Kingdom. For both constructs, effects of culture were detectable, whereas those related to key demographics were either small and inconsistent across samples (political orientation and religiosity) or zero (sex and age). Judged from factorial dimensionality and internal consistency, the psychometric properties of both scales were satisfactory. Belief in genetic determinism had lower prevalence and corresponded only modestly to positive attitudes towards psychiatric genetic research which had higher prevalence. The correlations of both constructs with a preference of inequality among social groups (social dominance orientation) were modest and inconsistent across samples. Both scales appear appropriate for cross-cultural applications, in particular for research into lay theories and public perceptions regarding genetic vs environmental effects on human behavior, mental disorders, and behavioral and psychiatric genetic research related to these.

Genetic correlations between mature cow weight and productive and reproductive traits in Nellore cattle.

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Regatieri, I C; Boligon, A A; Baldi, F; Albuquerque, L G

2012-08-29

We investigated genetic associations between mature cow weight (MW) and weaning weight (WW), yearling weight (YW), weight gain from birth to weaning (GBW), weight gain from weaning to yearling (GWY), weaning hip height (WHH), yearling hip height (YHH), scrotal circumference (SC), and age at first calving (AFC). Data from 127,104 Nellore animals born between 1993 and 2006, belonging to Agropecuária Jacarezinho Ltda., were analyzed. (Co)variance components were obtained by the restricted maximum likelihood method, applying an animal model in a multi-traits analysis. The model included direct genetic and residual effects as random effects, the fixed effects of contemporary group, and the linear and quadratic effects of animal age at recording (except for AFC, GBW, and GWY) and age of cow at calving as covariates (except for MW). The numbers of days from birth to weaning and from weaning to yearling were included as covariates for GBW and GWY, respectively. Estimated direct heritabilities were 0.43 ± 0.02 (MW), 0.33 ± 0.01 (WW), 0.36 ± 0.01 (YW), 0.28 ± 0.02 (GBW), 0.31 ± 0.01 (GWY), 0.44 ± 0.02 (WHH), 0.48 ± 0.02 (YHH), 0.44 ± 0.01 (SC), and 0.16 ± 0.03 (AFC). Genetic correlations between MW and productive traits were positive and of medium to high magnitude (ranging from 0.47 ± 0.03 to 0.71 ± 0.01). A positive and low genetic correlation was observed between MW and SC (0.24 ± 0.04). A negative genetic correlation (-0.19 ± 0.03) was estimated between MW and AFC. Selection to increase weight or weight gains at any age, as well as hip height, will change MW in the same direction. Selection for higher SC may lead to a long-term increase in MW. The AFC can be included in selection indices to improve the reproductive performance of beef cattle without significant changes in MW.

Estimates of genetic correlations and correlated responses to selection in cashew (Anacardium occidentale L.

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Diógenes Manoel Pedroza de Azevedo

1998-09-01

Full Text Available The present study estimates variances and genetic and phenotypic correlations for five traits in 27 progenies of cashew trees (Anacardium occidentale L.. Data were obtained from a trial conducted in 1992 at Pacajus, Ceará, experimental station of Embrapa Agroindústria Tropical. The characters studied were plant height (PH, North-South and East-West canopy spreads (NSS, EWS, and primary and secondary branch numbers (PBN, SBN. All genetic and phenotypic correlations presented positive and significant values. Selection to increase or decrease the average of any one of the five characteristics of cashew plants in the progenies studied affected the average of the others. The 16-month-old canopy spread can be predicted from NSS or EWS since correlations between them were high. Correlations between PH and SBN were low, indicating that there is a good possibility of obtaining smaller plants without causing drastic reductions in SBN. PH and SBN showed, respectively, the lowest and highest genetic variance estimates relative to the corresponding population means.Neste trabalho são estimadas variâncias, correlações genéticas e fenotípicas e respostas correlacionadas, envolvendo cinco caracteres em 27 progênies de cajueiro (Anacardium occidentale L.. Os dados foram obtidos em Pacajus-CE, num ensaio conduzido no Campo Experimental da Embrapa Agroindústria Tropical, em l992. Os caracteres estudados foram altura de planta (PH, envergaduras norte-sul (NSS e leste-oeste (EWS e número de ramos primários (PBN e secundários (SBN. Todas as correlacões genéticas e fenotípicas obtidas foram positivas e significativas. A seleção para aumentar ou reduzir a média de qualquer um dos cinco caracteres estudados nas progênies de cajueiro afetou indiretamente a média dos outros quatro caracteres. A envergadura da copa aos 16 meses pode ser representada por NSS ou EWS, tendo em vista que a correlação entre elas foi elevada. As correlações envolvendo PH

Genetics of serum carotenoid concentrations and their correlation with obesity-related traits in Mexican American children.

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Farook, Vidya S; Reddivari, Lavanya; Mummidi, Srinivas; Puppala, Sobha; Arya, Rector; Lopez-Alvarenga, Juan Carlos; Fowler, Sharon P; Chittoor, Geetha; Resendez, Roy G; Kumar, Birunda Mohan; Comuzzie, Anthony G; Curran, Joanne E; Lehman, Donna M; Jenkinson, Christopher P; Lynch, Jane L; DeFronzo, Ralph A; Blangero, John; Hale, Daniel E; Duggirala, Ravindranath; Vanamala, Jairam Kp

2017-07-01

Background: Dietary intake of phytonutrients present in fruits and vegetables, such as carotenoids, is associated with a lower risk of obesity and related traits, but the impact of genetic variation on these associations is poorly understood, especially in children. Objective: We estimated common genetic influences on serum carotenoid concentrations and obesity-related traits in Mexican American (MA) children. Design: Obesity-related data were obtained from 670 nondiabetic MA children, aged 6-17 y. Serum α- and β-carotenoid concentrations were measured in ∼570 (α-carotene in 565 and β-carotene in 572) of these children with the use of an ultraperformance liquid chromatography-photodiode array. We determined heritabilities for both carotenoids and examined their genetic relation with 10 obesity-related traits [body mass index (BMI), waist circumference (WC), high-density lipoprotein (HDL) cholesterol, triglycerides, fat mass (FM), systolic and diastolic blood pressure, fasting insulin and glucose, and homeostasis model assessment of insulin resistance] by using family data and a variance components approach. For these analyses, carotenoid values were inverse normalized, and all traits were adjusted for significant covariate effects of age and sex. Results: Carotenoid concentrations were highly heritable and significant [α-carotene: heritability ( h 2 ) = 0.81, P = 6.7 × 10 -11 ; β-carotene: h 2 = 0.90, P = 3.5 × 10 -15 ]. After adjusting for multiple comparisons, we found significant ( P ≤ 0.05) negative phenotypic correlations between carotenoid concentrations and the following traits: BMI, WC, FM, and triglycerides (range: α-carotene = -0.19 to -0.12; β-carotene = -0.24 to -0.13) and positive correlations with HDL cholesterol (α-carotene = 0.17; β-carotene = 0.24). However, when the phenotypic correlations were partitioned into genetic and environmental correlations, we found marginally significant ( P = 0.051) genetic correlations only between �

The heritability and genetic correlates of mobile phone use: a twin study of consumer behavior.

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Miller, Geoffrey; Zhu, Gu; Wright, Margaret J; Hansell, Narelle K; Martin, Nicholas G

2012-02-01

There has been almost no overlap between behavior genetics and consumer behavior research, despite each field's importance in understanding society. In particular, both have neglected to study genetic influences on consumer adoption and usage of new technologies -- even technologies as important as the mobile phone, now used by 5.8 out of 7.0 billion people on earth. To start filling this gap, we analyzed self-reported mobile phone use, intelligence, and personality traits in two samples of Australian teenaged twins (mean ages 14.2 and 15.6 years), totaling 1,036 individuals. ACE modeling using Mx software showed substantial heritabilities for how often teens make voice calls (.60 and .34 in samples 1 and 2, respectively) and for how often they send text messages (.53 and. 50). Shared family environment - including neighborhood, social class, parental education, and parental income (i.e., the generosity of calling plans that parents can afford for their teens) -- had much weaker effects. Multivariate modeling based on cross-twin, cross-trait correlations showed negative genetic correlations between talking/texting frequency and intelligence (around -.17), and positive genetic correlations between talking/texting frequency and extraversion (about .20 to .40). Our results have implications for assessing the risks of mobile phone use such as radiofrequency field (RF) exposure and driving accidents, for studying adoption and use of other emerging technologies, for understanding the genetic architecture of the cognitive and personality traits that predict consumer behavior, and for challenging the common assumption that consumer behavior is shaped entirely by culture, media, and family environment.

Genetic correlations between conformation traits and radiographic findings in the limbs of German Warmblood riding horses

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Distl Ottmar

2006-11-01

Full Text Available Abstract Studbook inspection (SBI data of 20 768 German Warmblood mares and radiography results (RR data of 5102 Hanoverian Warmblood horses were used for genetic correlation analyses. The scores on a scale from 0 to 10 were given for conformation and basic quality of gaits, resulting in 14 SBI traits which were used for the correlation analyses. The radiographic findings considered included osseous fragments in fetlock (OFF and hock joints (OFH, deforming arthropathy in hock joints (DAH and distinct radiographic findings in the navicular bones (DNB which were analyzed as binary traits, and radiographic appearance of the navicular bones (RNB which was analyzed as a quasi-linear trait. Genetic parameters were estimated multivariately in linear animal models with REML using information on 24 448 horses with SBI and/or RR records. The ranges of heritability estimates were h2 = 0.14–0.34 for the RR traits and h2 = 0.09–0.50 for the SBI traits. Negative additive genetic correlations of rg = -0.19 to -0.56 were estimated between OFF and conformation of front and hind limbs and walk at hand, and between DNB and hind limb conformation. There were indications of negative additive genetic correlations between DAH and all SBI traits, but because of low prevalence and low heritability of DAH, these results require further scrutiny. Positive additive genetic correlations of rg = 0.37–0.52 were estimated between OFF and withers height and between OFH and withers height, indicating that selection for taller horses will increase disposition to develop OFF and OFH. Selection of broodmares with regards to functional conformation will assist, but cannot replace possible selection against radiographic findings in the limbs of young Warmblood riding horses, particularly with regards to OFF.

Genetic variability, correlation and path analysis of yield contributing characters in sweet potato (ipomoea batatas lam.)

International Nuclear Information System (INIS)

Hossain, M.D.; Rabbani, M.G.; Mollah, M.L.R.

2000-01-01

Evaluation of 30 sweet potato (Ipomoea batatas Lam.) genotypes for yield contributing characters and tuber yield per plant revealed high phenotypic and genotypic coefficient of variation (PCV and GCV, respectively) for number of tubers per plant, average tuber weight and tuber yield per plant. The heritability and genetic advance were higher for tuber yield per plant, average tuber weight and number of tubers per plant. These three characters also reflected high heritability as well as high genetic advance. As high positive significant correlation, as well as positive direct effect of average tuber weight and number of tubers per plant on tuber yield per plant were found, these characters should be given prime importance for selecting high yielding sweet potato genotypes. (author)

Facial averageness and genetic quality: Testing heritability, genetic correlation with attractiveness, and the paternal age effect.

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Lee, Anthony J; Mitchem, Dorian G; Wright, Margaret J; Martin, Nicholas G; Keller, Matthew C; Zietsch, Brendan P

2016-01-01

Popular theory suggests that facial averageness is preferred in a partner for genetic benefits to offspring. However, whether facial averageness is associated with genetic quality is yet to be established. Here, we computed an objective measure of facial averageness for a large sample ( N = 1,823) of identical and nonidentical twins and their siblings to test two predictions from the theory that facial averageness reflects genetic quality. First, we use biometrical modelling to estimate the heritability of facial averageness, which is necessary if it reflects genetic quality. We also test for a genetic association between facial averageness and facial attractiveness. Second, we assess whether paternal age at conception (a proxy of mutation load) is associated with facial averageness and facial attractiveness. Our findings are mixed with respect to our hypotheses. While we found that facial averageness does have a genetic component, and a significant phenotypic correlation exists between facial averageness and attractiveness, we did not find a genetic correlation between facial averageness and attractiveness (therefore, we cannot say that the genes that affect facial averageness also affect facial attractiveness) and paternal age at conception was not negatively associated with facial averageness. These findings support some of the previously untested assumptions of the 'genetic benefits' account of facial averageness, but cast doubt on others.

Structured sparse canonical correlation analysis for brain imaging genetics: an improved GraphNet method.

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Du, Lei; Huang, Heng; Yan, Jingwen; Kim, Sungeun; Risacher, Shannon L; Inlow, Mark; Moore, Jason H; Saykin, Andrew J; Shen, Li

2016-05-15

Structured sparse canonical correlation analysis (SCCA) models have been used to identify imaging genetic associations. These models either use group lasso or graph-guided fused lasso to conduct feature selection and feature grouping simultaneously. The group lasso based methods require prior knowledge to define the groups, which limits the capability when prior knowledge is incomplete or unavailable. The graph-guided methods overcome this drawback by using the sample correlation to define the constraint. However, they are sensitive to the sign of the sample correlation, which could introduce undesirable bias if the sign is wrongly estimated. We introduce a novel SCCA model with a new penalty, and develop an efficient optimization algorithm. Our method has a strong upper bound for the grouping effect for both positively and negatively correlated features. We show that our method performs better than or equally to three competing SCCA models on both synthetic and real data. In particular, our method identifies stronger canonical correlations and better canonical loading patterns, showing its promise for revealing interesting imaging genetic associations. The Matlab code and sample data are freely available at http://www.iu.edu/∼shenlab/tools/angscca/ shenli@iu.edu Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

[Correlation between genetic differences of mates and pathogenicity of Schistosoma japonicum in definitive host].

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Wen-Qiao, Huang; Yuan-Jian, Zhu; Da-Bing, Lv; Xia, Zhou; Ying-Nan, Yang; Hong-Xiang, Zhu-Ge

2016-05-24

To explore the correlation between the genetic dissimilarity and heterozygosity of mates and the pathogenicity of Schistosoma japonicum in the definitive host. By using seven microsatellite loci markers, S. japonicum genotyping of sixteen pairs randomly mated was performed, the genetic dissimilarity and heterozygosity were calculated between the mates, and the correlation between the genetic dissimilarity and heterozygosity of the mates and the pathogenicity of S. japonicum in the definitive host was evaluated. There was a significant correlation between the genetic similarity of S. japonicum mates and the mean number of eggs per worm pair in the liver and intestinal tissue ( r = 0.501 6, P correlation between the genetic similarity of the mates and hepatosplenomegaly per worm pair ( r = 0.109 5, P > 0.05; r = 0.265 3, P > 0.05, respectively) and the average diameter of granuloma in the liver ( r = -0.272 7, P > 0.05), respectively. There was no correlation between the heterozygosity of the mates and all the pathological parameters of S. japonicum in the definitive host ( P > 0.05). There is the correlation between the genetic dissimilarity of the mates and the pathogenicity of S. japonicum in the definitive host, and the genetic dissimilarity is greater, pathogenicity is weaker. There is no correlation between heterozygosity of the mates and the pathogenicity of S. japonicum in the definitive host.

Genetic Basis of Positive and Negative Symptom Domains in Schizophrenia.

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Xavier, Rose Mary; Vorderstrasse, Allison

2017-10-01

Schizophrenia is a highly heritable disorder, the genetic etiology of which has been well established. Yet despite significant advances in genetics research, the pathophysiological mechanisms of this disorder largely remain unknown. This gap has been attributed to the complexity of the polygenic disorder, which has a heterogeneous clinical profile. Examining the genetic basis of schizophrenia subphenotypes, such as those based on particular symptoms, is thus a useful strategy for decoding the underlying mechanisms. This review of literature examines the recent advances (from 2011) in genetic exploration of positive and negative symptoms in schizophrenia. We searched electronic databases PubMed, Web of Science, and Cumulative Index to Nursing and Allied Health Literature using key words schizophrenia, symptoms, positive symptoms, negative symptoms, cognition, genetics, genes, genetic predisposition, and genotype in various combinations. We identified 115 articles, which are included in the review. Evidence from these studies, most of which are genetic association studies, identifies shared and unique gene associations for the symptom domains. Genes associated with neurotransmitter systems and neuronal development/maintenance primarily constitute the shared associations. Needed are studies that examine the genetic basis of specific symptoms within the broader domains in addition to functional mechanisms. Such investigations are critical to developing precision treatment and care for individuals afflicted with schizophrenia.

Neural and Genetic Correlates of the Social Sharing of Happiness

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Matsunaga, Masahiro; Kawamichi, Hiroaki; Umemura, Tomohiro; Hori, Reiko; Shibata, Eiji; Kobayashi, Fumio; Suzuki, Kohta; Ishii, Keiko; Ohtsubo, Yohsuke; Noguchi, Yasuki; Ochi, Misaki; Yamasue, Hidenori; Ohira, Hideki

2017-01-01

Happiness is regarded as one of the most fundamental human goals. Given recent reports that positive feelings are contagious (e.g., the presence of a happy person enhances others' happiness) because of the human ability to empathize (i.e., sharing emotions), empathic ability may be a key factor in increasing one's own subjective level of happiness. Based on previous studies indicating that a single nucleotide polymorphism in the serotonin 2A receptor gene [HTR2A rs6311 guanine (G) vs. adenine (A)] is associated with sensitivity to emotional stimuli and several mental disorders such as depression, we predicted that the polymorphism might be associated with the effect of sharing happiness. To elucidate the neural and genetic correlates of the effect of sharing happiness, we first performed functional magnetic resonance imaging (fMRI) during a “happy feelings” evocation task (emotional event imagination task), during which we manipulated the valence of the imagined event (positive, neutral, or negative), as well as the presence of a friend experiencing a positive-valence event (presence or absence). We recruited young adult women for this fMRI study because empathic ability may be higher in women than in men. Participants felt happier (p happiness (neutral/presence condition) than those with the AA genotype. In a follow-up study with a vignette-based questionnaire conducted in a relatively large sample, male and female participants were presented with the same imagined events wherein their valence and the presence of a friend were manipulated. Results showed genetic differences in happiness-related empathy regardless of sex (p happiness by modulating the activity of the mentalizing/theory-of-mind network. PMID:29311795

Spatial correlation genetic algorithm for fractal image compression

International Nuclear Information System (INIS)

Wu, M.-S.; Teng, W.-C.; Jeng, J.-H.; Hsieh, J.-G.

2006-01-01

Fractal image compression explores the self-similarity property of a natural image and utilizes the partitioned iterated function system (PIFS) to encode it. This technique is of great interest both in theory and application. However, it is time-consuming in the encoding process and such drawback renders it impractical for real time applications. The time is mainly spent on the search for the best-match block in a large domain pool. In this paper, a spatial correlation genetic algorithm (SC-GA) is proposed to speed up the encoder. There are two stages for the SC-GA method. The first stage makes use of spatial correlations in images for both the domain pool and the range pool to exploit local optima. The second stage is operated on the whole image to explore more adequate similarities if the local optima are not satisfied. With the aid of spatial correlation in images, the encoding time is 1.5 times faster than that of traditional genetic algorithm method, while the quality of the retrieved image is almost the same. Moreover, about half of the matched blocks come from the correlated space, so fewer bits are required to represent the fractal transform and therefore the compression ratio is also improved

Genetic parameters, phenotypic, genotypic and environmental correlations and genetic variability on sunflower in the Brazilian Savannah

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Ellen Grippi Lira

Full Text Available ABSTRACT: Sunflower (Helianthus annuus L. is an annual crop that stands out for its production of high quality oil and for an efficient selection, being necessary to estimate the components of genetic and phenotypic variance. This study aimed to estimate genetic parameters, phenotypic, genotypic and environmental correlations and genetic variability on sunflower in the Brazilian Savannah, evaluating the characters grain yield (YIELD, days to start flowering (DFL based on flowering date in R5, chapter length (CL, weight of a thousand achenes (WTA, plant height (H and oil content (OilC of 16 sunflower genotypes. The experiment was conducted at Embrapa Cerrados, Planaltina, DF, situated at 15º 35’ 30”S latitude, 47º 42’ 30”W longitude and 1.007m above sea level, in soil classified as dystroferric Oxisol. The experimental design used was a complete randomized block with four replicates. The nature for the effects of genotypes and blocks was fixed. Except for the character chapter length, genetic variance was the main component of the phenotypic variance among the genotypes, indicating high genetic variability and experimental efficiency with proper environmental control. In absolute terms, the genetic correlations were superior to phenotypic and environmental. The high values reported for heritability and selective accuracy indicated efficiency of phenotypic selection. Results showed high genetic variability among genotypes, which may contribute to the genetic improvement of sunflower.

A hybrid correlation analysis with application to imaging genetics

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Hu, Wenxing; Fang, Jian; Calhoun, Vince D.; Wang, Yu-Ping

2018-03-01

Investigating the association between brain regions and genes continues to be a challenging topic in imaging genetics. Current brain region of interest (ROI)-gene association studies normally reduce data dimension by averaging the value of voxels in each ROI. This averaging may lead to a loss of information due to the existence of functional sub-regions. Pearson correlation is widely used for association analysis. However, it only detects linear correlation whereas nonlinear correlation may exist among ROIs. In this work, we introduced distance correlation to ROI-gene association analysis, which can detect both linear and nonlinear correlations and overcome the limitation of averaging operations by taking advantage of the information at each voxel. Nevertheless, distance correlation usually has a much lower value than Pearson correlation. To address this problem, we proposed a hybrid correlation analysis approach, by applying canonical correlation analysis (CCA) to the distance covariance matrix instead of directly computing distance correlation. Incorporating CCA into distance correlation approach may be more suitable for complex disease study because it can detect highly associated pairs of ROI and gene groups, and may improve the distance correlation level and statistical power. In addition, we developed a novel nonlinear CCA, called distance kernel CCA, which seeks the optimal combination of features with the most significant dependence. This approach was applied to imaging genetic data from the Philadelphia Neurodevelopmental Cohort (PNC). Experiments showed that our hybrid approach produced more consistent results than conventional CCA across resampling and both the correlation and statistical significance were increased compared to distance correlation analysis. Further gene enrichment analysis and region of interest (ROI) analysis confirmed the associations of the identified genes with brain ROIs. Therefore, our approach provides a powerful tool for finding

Genetic Imaging of the Association of Oxytocin Receptor Gene (OXTR Polymorphisms with Positive Maternal Parenting

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Kalina J. Michalska

2014-02-01

Full Text Available Background: Well-validated models of maternal behavior in small-brain mammals posit a central role of oxytocin in parenting, by reducing stress and enhancing the reward value of social interactions with offspring. In contrast, human studies are only beginning to gain insights into how oxytocin modulates maternal behavior and affiliation. Methods: To explore associations between oxytocin receptor genes and maternal parenting behavior in humans, we conducted a genetic imaging study of women selected to exhibit a wide range of observed parenting when their children were 4-6 years old. Results: In response to child stimuli during functional magnetic resonance imaging, hemodynamic responses in brain regions that mediate affect, reward, and social behavior were significantly correlated with observed positive parenting. Furthermore, single nucleotide polymorphisms (rs53576 and rs1042778 in the gene encoding the oxytocin receptor were significantly associated with both positive parenting and hemodynamic responses to child stimuli in orbitofrontal cortex, anterior cingulate cortex and hippocampus. Conclusions: These findings contribute to the emerging literature on the role of oxytocin in human social behavior and support the feasibility of tracing biological pathways from genes to neural regions to positive maternal parenting behaviors in humans using genetic imaging methods.

Intelligence and Semen Quality Are Positively Correlated

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Arden, Rosalind; Gottfredson, Linda S.; Miller, Geoffrey; Pierce, Arand

2009-01-01

Human cognitive abilities inter-correlate to form a positive matrix, from which a large first factor, called "Spearman's g" or general intelligence, can be extracted. General intelligence itself is correlated with many important health outcomes including cardio-vascular function and longevity. However, the important evolutionary question of…

Why do measures of normal and disordered personality correlate? A study of genetic comorbidity.

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Jang, K L; Livesley, W J

1999-01-01

The genetic and environmental correlations between measures of normal (NEO-FFI) and abnormal personality (Dimensional Assessment of Personality Pathology: DAPP-BQ) were estimated in a sample of 545 volunteer general population twin pairs (269 monozygotic and 276 dizygotic pairs). The largest genetic correlations were observed between the 18 DAPP-BQ dimensions and NEO-FFI neuroticism (range = .05 to .81; median = .48), extraversion (range = -.65 to .33; median = -.28), agreeableness (range = -.65 to .00; median = -.38), and conscientiousness (range = -.76 to .52; median = -.31). The smallest genetic correlations were found between the DAPP-BQ dimensions and NEO-FFI openness (range = -.17 to .20; median = -.04). The environmental correlations are lower in magnitude but show the same pattern of correlations between DAPP-BQ and NEO-FFI scales. These results indicate that these two scales share a common broad-based genetic architecture, whereas the environmental influences show greater scale specificity.

On the Genetic and Environmental Correlations between Trait Emotional Intelligence and Vocational Interest Factors.

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Schermer, Julie Aitken; Petrides, Konstantinos V; Vernon, Philip A

2015-04-01

The phenotypic (observed), genetic, and environmental correlations were examined in a sample of adult twins between the four factors and global score of the trait emotional intelligence questionnaire (TEIQue) and the seven vocational interest factors of the Jackson Career Explorer (JCE). Multiple significant correlations were found involving the work style vocational interest factor (consisting of job security, stamina, accountability, planfulness, and interpersonal confidence) and the social vocational interest factor (which included interests in the social sciences, personal services, teaching, social services, and elementary education), both of which correlated significantly with all of the TEIQue variables (well-being, self-control, emotionality, sociability, and global trait EI). Following bivariate genetic analyses, most of the significant phenotypic correlations were found to also have significant genetic correlations as well as significant non-shared (unique) environmental correlations.

non-genetic factors and correlation studies in cattle.

African Journals Online (AJOL)

Bivariate and multivariate analyses fitting an animal model, were conducted by means of (ASREML) ... aggregate genetic improvement in beef cattle is most ..... This trend was observed in the present study. .... effects hence the prediction of correlated responses to ... the shape of the growth curve as an animal can be.

Genetic and non-genetic correlates of vitamins K and D.

Science.gov (United States)

Shea, M K; Benjamin, E J; Dupuis, J; Massaro, J M; Jacques, P F; D'Agostino, R B; Ordovas, J M; O'Donnell, C J; Dawson-Hughes, B; Vasan, R S; Booth, S L

2009-04-01

To assess the genetic and nongenetic correlates of circulating measures of vitamins K and D status in a community-based sample of men and women. A cross-sectional study of 1762 participants of the Framingham Offspring Study (919 women; mean age 59 years). Vitamin K status was measured as plasma phylloquinone and serum percent undercarboxylated osteocalcin (ucOC), and vitamin D was measured using plasma 25-hydroxyvitamin D (25(OH)D). Associations between vitamin K status and vitamin D status with biologically plausible nongenetic factors were assessed using stepwise regression. Heritability and linkage were determined using Sequential Oligogenic Linkage Analysis Routines (SOLAR). Nongenetic factors accounted for 20.1 and 12.3% of the variability in plasma phylloquinone in men and women respectively, with triglycerides and phylloquinone intake being the primary correlates. In men 12.2% and in women 14.6% of the variability in %ucOC was explained by nongenetic factors in our models. Heritability estimates for these vitamin K status biomarkers were nonsignificant. Season, vitamin D intake, high-density lipoprotein (HDL) cholesterol and waist circumference explained 24.7% (men) and 24.2% (women) of the variability in plasma 25(OH)D. Of the three vitamins examined, only 25(OH)D was significantly heritable (heritability estimate=28.8%, Pvitamin K status was attributed to nongenetic factors, whereas plasma 25(OH)D was found to be significantly heritable. Further studies are warranted to investigate genetic loci influencing vitamin D status.

Genetic parameters for lactose and its correlation with other milk production traits and fitness traits in pasture-based production systems.

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Haile-Mariam, M; Pryce, J E

2017-05-01

breeding values of traits such as survival, fertility, SCC, and angularity suggest that the value of lactose percentage as a predictor of fitness traits is weak. The results also suggest that including lactose yield as a trait into the breeding objective is of limited value due to the high positive genetic correlation between lactose yield and protein yield, the trait highly emphasized in Australia. However, recording lactose percentage as part of the routine milk recording system will enable the Australian dairy industry to respond quickly to any future changes and market signals. Copyright © 2017 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Lack of Correlation Between External Fiducial Positions and Internal Tumor Positions During Breath-Hold CT

International Nuclear Information System (INIS)

Hunjan, Sandeep; Starkschall, George; Prado, Karl; Dong Lei; Balter, Peter

2010-01-01

Purpose: For thoracic tumors, if four-dimensional computed tomography (4DCT) is unavailable, the internal margin can be estimated by use of breath-hold (BH) CT scans acquired at end inspiration (EI) and end expiration (EE). By use of external surrogates for tumor position, BH accuracy is estimated by minimizing the difference between respiratory extrema BH and mean equivalent-phase free breathing (FB) positions. We tested the assumption that an external surrogate for BH accuracy correlates with internal tumor positional accuracy during BH CT. Methods and Materials: In 16 lung cancer patients, 4DCT images, as well as BH CT images at EI and EE, were acquired. Absolute differences between BH and mean equivalent-phase (FB) positions were calculated for both external fiducials and gross tumor volume (GTV) centroids as metrics of external and internal BH accuracy, respectively, and the results were correlated. Results: At EI, the absolute difference between mean FB and BH fiducial displacement correlated poorly with the absolute difference between FB and BH GTV centroid positions on CT images (R 2 = 0.11). Similarly, at EE, the absolute difference between mean FB and BH fiducial displacements correlated poorly with the absolute difference between FB and BH GTV centroid positions on CT images (R 2 = 0.18). Conclusions: External surrogates for tumor position are not an accurate metric of BH accuracy for lung cancer patients. This implies that care should be taken when using such an approach because an incorrect internal margin could be generated.

Birth Characteristics and Childhood Leukemia Risk: Correlations With Genetic Markers.

Science.gov (United States)

Kennedy, Amy E; Kamdar, Kala Y; Lupo, Philip J; Okcu, Mehmet F; Scheurer, Michael E; Dorak, Mehmet T

2015-07-01

Birth characteristics such as birth order, birth weight, birth defects, and Down syndrome showed some of the first risk associations with childhood leukemia. Examinations of correlations between birth characteristics and leukemia risk markers have been limited to birth weight-related genetic polymorphisms. We integrated information on nongenetic and genetic markers by evaluating the relationship of birth characteristics, genetic markers for childhood acute lymphoblastic leukemia (ALL) susceptibility, and ALL risk together. The multiethnic study consisted of cases with childhood ALL (n=161) and healthy controls (n=261). Birth characteristic data were collected through questionnaires, and genotyping was achieved by TaqMan SNP Genotyping Assays. We observed risk associations for birth weight over 4000 g (odds ratios [OR]=1.93; 95% confidence interval [CI], 1.16-3.19), birth length (OR=1.18 per inch; 95% CI, 1.01-1.38), and with gestational age (OR=1.10 per week; 95% CI, 1.00-1.21). Only the HFE tag single-nucleotide polymorphism (SNP) rs9366637 showed an inverse correlation with a birth characteristic, gestational age, with a gene-dosage effect (P=0.005), and in interaction with a transferrin receptor rs3817672 genotype (Pinteraction=0.05). This correlation translated into a strong association for rs9366637 with preterm birth (OR=5.0; 95% CI, 1.19-20.9). Our study provides evidence for the involvement of prenatal events in the development of childhood ALL. The inverse correlation of rs9366637 with gestational age has implications on the design of HFE association studies in birth weight and childhood conditions using full-term newborns as controls.

Genetic correlations between wool traits and meat quality traits in Merino sheep.

Science.gov (United States)

Mortimer, S I; Hatcher, S; Fogarty, N M; van der Werf, J H J; Brown, D J; Swan, A A; Jacob, R H; Geesink, G H; Hopkins, D L; Edwards, J E Hocking; Ponnampalam, E N; Warner, R D; Pearce, K L; Pethick, D W

2017-10-01

Genetic correlations between 29 wool production and quality traits and 25 meat quality and nutritional value traits were estimated for Merino sheep from an Information Nucleus (IN). Genetic correlations among the meat quality and nutritional value traits are also reported. The IN comprised 8 flocks linked genetically and managed across a range of sheep production environments in Australia. The wool traits included over 5,000 yearling and 3,700 adult records for fleece weight, fiber diameter, staple length, staple strength, fiber diameter variation, scoured wool color, and visual scores for breech and body wrinkle. The meat quality traits were measured on samples from the and included over 1,200 records from progeny of over 170 sires for intramuscular fat (IMF), shear force of meat aged for 5 d (SF5), 24 h postmortem pH (pHLL; also measured in the , pHST), fresh and retail meat color and meat nutritional value traits such as iron and zinc levels, and long-chain omega-3 and omega-6 polyunsaturated fatty acid levels. Estimated heritabilities for IMF, SF5, pHLL, pHST, retail meat color lightness (), myoglobin, iron, zinc and across the range of long-chain fatty acids were 0.58 ± 0.11, 0.10 ± 0.09, 0.15 ± 0.07, 0.20 ± 0.10, 0.59 ± 0.15, 0.31 ± 0.09, 0.20 ± 0.09, 0.11 ± 0.09, and range of 0.00 (eicosapentaenoic, docosapentaenoic, and arachidonic acids) to 0.14 ± 0.07 (linoleic acid), respectively. The genetic correlations between the wool production and meat quality traits were low to negligible and indicate that wool breeding programs will have little or no effect on meat quality. There were moderately favorable genetic correlations between important yearling wool production traits and the omega-3 fatty acids that were reduced for corresponding adult wool production traits, but these correlations are unlikely to be important in wool/meat breeding programs because they have high SE, and the omega-3 traits have little or no genetic variance. Significant genetic

Genetic Relationships of Carcass Traits with Retail Cut Productivity of Hanwoo Cattle

Directory of Open Access Journals (Sweden)

Daeyoung Koh

2014-10-01

Full Text Available This study aimed to estimate genetic correlation between carcass grading and retail productivity traits and to estimate the correlated response on retail productivity traits through selection for carcass grading traits in order to assess the efficacy of indirect selection. Genetic parameters were estimated with the data from 4240 Hanwoo steers using mixed models, and phenotypes included carcass weight (CWT, back fat thickness (BFT, eye muscle area (EMA, marbling (MAR, and estimated lean yield percentage (ELP as the carcass grading traits, and weight and portion of retail cuts (RCW and RCP, trimmed fats (TFW and TFP and trimmed bones (TBW and TBP as the lean productivity traits. The CWT had positive genetic correlations with RCW (0.95 and TFW (0.73, but its genetic correlation with RCP was negligible (0.02. The BFT was negatively correlated with RCP (−0.63, but positively correlated with TFW and TFP (0.77 and 0.70. Genetic correlations of MAR with TFW and TFP were low. Among the carcass grading traits, only EMA was positively correlated with both RCW (0.60 and RCP (0.72. The EMA had a relatively strong negative genetic correlation with TFW (−0.64. The genetic correlation coefficients of ELP with RCP, TFW, and TFP were 0.76, −0.90, and −0.82, respectively. These correlation coefficients suggested that the ELP and EMA might be favorable traits in regulating lean productivity of carcass.

Genetic variation and correlation of agronomic traits in meadow bromegrass (Bromus riparius Rehm clones

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Araújo Marcelo Renato Alves de

2004-01-01

Full Text Available Meadow bromegrass (Bromus riparius Rehm. is a recently introduced pasture grass in western Canada. Its leafy production and rapid regrowth have made it a major grass species for pasturing beef animals in this region. As relatively little breeding work has been done on this species, there is little information on its breeding behaviour. The main objective of this study was to estimate total genetic variability, broad-sense heritability, phenotypic and genetic correlations. Forty-four meadow bromegrass clones were evaluated for agronomic characters. Genetic variation for dry matter yield, seed yield, fertility index, harvest index, plant height, plant spread, crude protein, neutral detergent fiber and acid detergent fiber, was significant. Broad-sense heritability estimates exceeded 50% for all characters. Heritability estimates were at least 3.5 times greater than their standard errors. Phenotypic and genetic correlation between all possible characters were measured. There was general agreement in both sign and magnitude between genetic and phenotypic correlations. Correlations between the different characters demonstrated that it is possible to simultaneously improve seed and forage yield. Based on the results, it appears that the development of higher yielding cultivars with higher crude protein, and lower acid and neutral detergent fibers concentration should be possible.

The Association between Positive Parenting and Externalizing Behavior.

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Boeldt, Debra L; Rhee, Soo Hyun; Dilalla, Lisabeth F; Mullineaux, Paula Y; Schulz-Heik, R Jay; Corley, Robin P; Young, Susan E; Hewitt, John K

2012-01-01

The present study examined the role of positive parenting on externalizing behaviors in a longitudinal, genetically informative sample. It often is assumed that positive parenting prevents behavior problems in children via an environmentally mediated process. Alternatively, the association may be due to either an evocative gene-environment correlation, in which parents react to children's genetically-influenced behavior in a positive way, or a passive gene-environment correlation, where parents passively transmit a risk environment and the genetic risk factor for the behavioral outcome to their children. The present study estimated the contribution of these processes in the association between positive parenting and children's externalizing behavior. Positive parenting was assessed via observations at ages 7, 9, 14, 24, and 36 months and externalizing behaviors were assessed through parent report at ages 4, 5, 7, 9, 10, 11, and 12 years. The significant association between positive parenting and externalizing behavior was negative, with children of mothers who showed significantly more positive parenting during toddlerhood having lower levels of externalizing behavior in childhood; however, there was not adequate power to distinguish whether this covariation was due to genetic, shared environmental, or nonshared environmental influences.

Evolutionary potential of root chemical defense: genetic correlations with shoot chemistry and plant growth.

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Parker, J D; Salminen, J-P; Agrawal, Anurag A

2012-08-01

Root herbivores can affect plant fitness, and roots often contain the same secondary metabolites that act as defenses in shoots, but the ecology and evolution of root chemical defense have been little investigated. Here, we investigated genetic variance, heritability, and correlations among defensive phenolic compounds in shoot vs. root tissues of common evening primrose, Oenothera biennis. Across 20 genotypes, there were roughly similar concentrations of total phenolics in shoots vs. roots, but the allocation of particular phenolics to shoots vs. roots varied along a continuum of genotype growth rate. Slow-growing genotypes allocated 2-fold more of the potential pro-oxidant oenothein B to shoots than roots, whereas fast-growing genotypes had roughly equivalent above and belowground concentrations. Phenolic concentrations in both roots and shoots were strongly heritable, with mostly positive patterns of genetic covariation. Nonetheless, there was genotype-specific variation in the presence/absence of two major ellagitannins (oenothein A and its precursor oenothein B), indicating two different chemotypes based on alterations in this chemical pathway. Overall, the presence of strong genetic variation in root defenses suggests ample scope for the evolution of these compounds as defenses against root herbivores.

Correlation between genetic and geographic structure in Europe

DEFF Research Database (Denmark)

Lao, Oscar; Lu, Timothy T; Nothnagel, Michael

2008-01-01

geographic but narrow genomic coverage [1, 2], or vice versa [3-6]. We therefore investigated Affymetrix GeneChip 500K genotype data from 2,514 individuals belonging to 23 different subpopulations, widely spread over Europe. Although we found only a low level of genetic differentiation between subpopulations......, the existing differences were characterized by a strong continent-wide correlation between geographic and genetic distance. Furthermore, mean heterozygosity was larger, and mean linkage disequilibrium smaller, in southern as compared to northern Europe. Both parameters clearly showed a clinal distribution...... Europe. By including the widely used CEPH from Utah (CEU) samples into our analysis, we could show that these individuals represent northern and western Europeans reasonably well, thereby confirming their assumed regional ancestry....

Population genetic segmentation of MHC-correlated perfume preferences.

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Hämmerli, A; Schweisgut, C; Kaegi, M

2012-04-01

It has become difficult to find a matching perfume. An overwhelming number of 300 new perfumes launch each year, and marketing campaigns target pre-defined groups based on gender, age or income rather than on individual preferences. Recent evidence for a genetic basis of perfume preferences, however, could be the starting point for a novel population genetic approach to better match perfumes with people's preferences. With a total of 116 participants genotyped for alleles of three loci of the major histocompatibility complex (MHC), the aim of this study was to test whether common MHC alleles could be used as genetic markers to segment a given population into preference types. Significant deviations from random expectations for a set of 10 common perfume ingredients indicate how such segmentation could be achieved. In addition, preference patterns of participants confronted with images that contained a sexual communication context significantly differed in their ratings for some of the scents compared with participants confronted with images of perfume bottles. This strongly supports the assumption that genetically correlated perfume preferences evolved in the context of sexual communication. The results are discussed in the light of perfume customization. © 2011 The Authors. ICS © 2011 Society of Cosmetic Scientists and the Société Française de Cosmétologie.

The Association between Positive Parenting and Externalizing Behavior1

Science.gov (United States)

Boeldt, Debra L.; Rhee, Soo Hyun; DiLalla, Lisabeth F.; Mullineaux, Paula Y.; Schulz-Heik, R. Jay; Corley, Robin P.; Young, Susan E.; Hewitt, John. K.

2011-01-01

The present study examined the role of positive parenting on externalizing behaviors in a longitudinal, genetically informative sample. It often is assumed that positive parenting prevents behavior problems in children via an environmentally mediated process. Alternatively, the association may be due to either an evocative gene-environment correlation, in which parents react to children’s genetically-influenced behavior in a positive way, or a passive gene-environment correlation, where parents passively transmit a risk environment and the genetic risk factor for the behavioral outcome to their children. The present study estimated the contribution of these processes in the association between positive parenting and children’s externalizing behavior. Positive parenting was assessed via observations at ages 7, 9, 14, 24, and 36 months and externalizing behaviors were assessed through parent report at ages 4, 5, 7, 9, 10, 11, and 12 years. The significant association between positive parenting and externalizing behavior was negative, with children of mothers who showed significantly more positive parenting during toddlerhood having lower levels of externalizing behavior in childhood; however, there was not adequate power to distinguish whether this covariation was due to genetic, shared environmental, or nonshared environmental influences. PMID:22577341

Genetic diversity and correlation with feline infectious peritonitis of feline coronavirus type I and II: a 5-year study in Taiwan.

Science.gov (United States)

Lin, Chao-Nan; Su, Bi-Ling; Wang, Ching-Ho; Hsieh, Ming-Wei; Chueh, Ti-Jen; Chueh, Ling-Ling

2009-05-12

The outcomes of feline coronavirus (FCoV) infection vary greatly from asymptomatic or mild enteric infection to fatal feline infectious peritonitis (FIP). On the basis of in vitro neutralization tests, FCoVs can be divided into two serotypes. To explore the correlation between different types of FCoV and FIP, clinical specimens collected from 363 naturally infected cats during 2003-2007 were analyzed. Amplification of a portion of the S gene from the FCoV was performed and a total of 222 cases were differentiated. Among them, 197 (88.7%) cats were type I-positive, 13 (5.9%) were type II-positive, and 12 (5.4%) were positive for both types. Irrespective of the predominance of type I FCoV infection in Taiwan, type II FCoV demonstrated a significantly higher correlation with FIP (p<0.01). Analysis of partial S gene sequences of the local type I and II FCoVs strains revealed that type I viruses were more genetically divergent (6.2-11.7%) than type II viruses (0.6-3.2%) within the 5-year study period. The higher genetic diversity of type I FCoVs might be due to the larger infected cat population and to the long period of viral persistence in asymptomatic cats in comparison to type II viruses.

Genetic correlations between body condition scores and fertility in dairy cattle using bivariate random regression models.

Science.gov (United States)

De Haas, Y; Janss, L L G; Kadarmideen, H N

2007-10-01

Genetic correlations between body condition score (BCS) and fertility traits in dairy cattle were estimated using bivariate random regression models. BCS was recorded by the Swiss Holstein Association on 22,075 lactating heifers (primiparous cows) from 856 sires. Fertility data during first lactation were extracted for 40,736 cows. The fertility traits were days to first service (DFS), days between first and last insemination (DFLI), calving interval (CI), number of services per conception (NSPC) and conception rate to first insemination (CRFI). A bivariate model was used to estimate genetic correlations between BCS as a longitudinal trait by random regression components, and daughter's fertility at the sire level as a single lactation measurement. Heritability of BCS was 0.17, and heritabilities for fertility traits were low (0.01-0.08). Genetic correlations between BCS and fertility over the lactation varied from: -0.45 to -0.14 for DFS; -0.75 to 0.03 for DFLI; from -0.59 to -0.02 for CI; from -0.47 to 0.33 for NSPC and from 0.08 to 0.82 for CRFI. These results show (genetic) interactions between fat reserves and reproduction along the lactation trajectory of modern dairy cows, which can be useful in genetic selection as well as in management. Maximum genetic gain in fertility from indirect selection on BCS should be based on measurements taken in mid lactation when the genetic variance for BCS is largest, and the genetic correlations between BCS and fertility is strongest.

Prevalence and correlates of positive mental health in Chinese adolescents.

Science.gov (United States)

Guo, Cheng; Tomson, Göran; Keller, Christina; Söderqvist, Fredrik

2018-02-17

Studies investigating the prevalence of positive mental health and its correlates are still scarce compared to the studies on mental disorders, although there is growing interest of assessing positive mental health in adolescents. So far, no other study examining the prevalence and determinants of positive mental health in Chinese adolescents has been found. The purpose of this study was to assess the prevalence and correlates of positive mental health in Chinese adolescents. This cross-sectional study used a questionnaire including Mental Health Continuum-Short Form (MHC-SF) and items regarding multiple aspects of adolescent life. The sample involved a total of 5399 students from grade 8 and 10 in Weifang, China. Multivariate Logistic regression analyses were performed to evaluate the associations between potential indicators regarding socio-economic situations, life style, social support and school life and positive mental health and calculate odds ratios and 95% confidence intervals. More than half (57.4%) of the participants were diagnosed as flourishing. The correlated factors of positive mental health in regression models included gender, perceived family economy, the occurrence of sibling(s), satisfaction of self-appearance, physical activity, sleep quality, stress, social trust, desire to learn, support from teachers and parents as well as whether being bullied at school (OR ranging from 1.23 to 2.75). The Hosmer-Lemeshow p-value for the final regression model (0.45) indicated adequate model fit. This study gives the first overview on prevalence and correlates of positive mental health in Chinese adolescents. The prevalence of positive mental health in Chinese adolescents is higher than reported in most of the previous studies also using MHC-SF. Our findings suggest that adolescents with advantageous socio-economic situations, life style, social support and school life are experiencing better positive mental health than others.

Joint modeling of genetically correlated diseases and functional annotations increases accuracy of polygenic risk prediction.

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Yiming Hu

2017-06-01

Full Text Available Accurate prediction of disease risk based on genetic factors is an important goal in human genetics research and precision medicine. Advanced prediction models will lead to more effective disease prevention and treatment strategies. Despite the identification of thousands of disease-associated genetic variants through genome-wide association studies (GWAS in the past decade, accuracy of genetic risk prediction remains moderate for most diseases, which is largely due to the challenges in both identifying all the functionally relevant variants and accurately estimating their effect sizes. In this work, we introduce PleioPred, a principled framework that leverages pleiotropy and functional annotations in genetic risk prediction for complex diseases. PleioPred uses GWAS summary statistics as its input, and jointly models multiple genetically correlated diseases and a variety of external information including linkage disequilibrium and diverse functional annotations to increase the accuracy of risk prediction. Through comprehensive simulations and real data analyses on Crohn's disease, celiac disease and type-II diabetes, we demonstrate that our approach can substantially increase the accuracy of polygenic risk prediction and risk population stratification, i.e. PleioPred can significantly better separate type-II diabetes patients with early and late onset ages, illustrating its potential clinical application. Furthermore, we show that the increment in prediction accuracy is significantly correlated with the genetic correlation between the predicted and jointly modeled diseases.

Positive Noise Cross Correlation in a Copper Pair Splitter.

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Das, Anindya; Ronen, Yuval; Heiblum, Moty; Shtrikman, Hadas; Mahalu, Diana

2012-02-01

Entanglement is in heart of the Einstein-Podolsky-Rosen (EPR) paradox, in which non-locality is a fundamental property. Up to date spin entanglement of electrons had not been demonstrated. Here, we provide direct evidence of such entanglement by measuring: non-local positive current correlation and positive cross correlation among current fluctuations, both of separated electrons born by a Cooper-pair-beam-splitter. The realization of the splitter is provided by injecting current from an Al superconductor contact into two, single channel, pure InAs nanowires - each intercepted by a Coulomb blockaded quantum dot (QD). The QDs impedes strongly the flow of Cooper pairs allowing easy single electron transport. The passage of electron in one wire enables the simultaneous passage of the other in the neighboring wire. The splitting efficiency of the Cooper pairs (relative to Cooper pairs actual current) was found to be ˜ 40%. The positive cross-correlations in the currents and their fluctuations (shot noise) are fully consistent with entangled electrons produced by the beam splitter.

Neural and Genetic Correlates of the Social Sharing of Happiness

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Masahiro Matsunaga

2017-12-01

Full Text Available Happiness is regarded as one of the most fundamental human goals. Given recent reports that positive feelings are contagious (e.g., the presence of a happy person enhances others' happiness because of the human ability to empathize (i.e., sharing emotions, empathic ability may be a key factor in increasing one's own subjective level of happiness. Based on previous studies indicating that a single nucleotide polymorphism in the serotonin 2A receptor gene [HTR2A rs6311 guanine (G vs. adenine (A] is associated with sensitivity to emotional stimuli and several mental disorders such as depression, we predicted that the polymorphism might be associated with the effect of sharing happiness. To elucidate the neural and genetic correlates of the effect of sharing happiness, we first performed functional magnetic resonance imaging (fMRI during a “happy feelings” evocation task (emotional event imagination task, during which we manipulated the valence of the imagined event (positive, neutral, or negative, as well as the presence of a friend experiencing a positive-valence event (presence or absence. We recruited young adult women for this fMRI study because empathic ability may be higher in women than in men. Participants felt happier (p < 0.01 and the mentalizing/theory-of-mind network, which spans the medial prefrontal cortex, temporoparietal junction, temporal poles, and precuneus, was significantly more active (p < 0.05 in the presence condition than in the absence condition regardless of event valence. Moreover, participants with the GG (p < 0.01 and AG (p < 0.05 genotypes of HTR2A experienced happier feelings as well as greater activation of a part of the mentalizing/theory-of-mind network (p < 0.05 during empathy for happiness (neutral/presence condition than those with the AA genotype. In a follow-up study with a vignette-based questionnaire conducted in a relatively large sample, male and female participants were presented with the same

Genetic Structure of Bluefin Tuna in the Mediterranean Sea Correlates with Environmental Variables

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Riccioni, Giulia; Stagioni, Marco; Landi, Monica; Ferrara, Giorgia; Barbujani, Guido; Tinti, Fausto

2013-01-01

Background Atlantic Bluefin Tuna (ABFT) shows complex demography and ecological variation in the Mediterranean Sea. Genetic surveys have detected significant, although weak, signals of population structuring; catch series analyses and tagging programs identified complex ABFT spatial dynamics and migration patterns. Here, we tested the hypothesis that the genetic structure of the ABFT in the Mediterranean is correlated with mean surface temperature and salinity. Methodology We used six samples collected from Western and Central Mediterranean integrated with a new sample collected from the recently identified easternmost reproductive area of Levantine Sea. To assess population structure in the Mediterranean we used a multidisciplinary framework combining classical population genetics, spatial and Bayesian clustering methods and a multivariate approach based on factor analysis. Conclusions FST analysis and Bayesian clustering methods detected several subpopulations in the Mediterranean, a result also supported by multivariate analyses. In addition, we identified significant correlations of genetic diversity with mean salinity and surface temperature values revealing that ABFT is genetically structured along two environmental gradients. These results suggest that a preference for some spawning habitat conditions could contribute to shape ABFT genetic structuring in the Mediterranean. However, further studies should be performed to assess to what extent ABFT spawning behaviour in the Mediterranean Sea can be affected by environmental variation. PMID:24260341

Genetic correlations among body condition score, yield and fertility in multiparous cows using random regression models

OpenAIRE

Bastin, Catherine; Gillon, Alain; Massart, Xavier; Bertozzi, Carlo; Vanderick, Sylvie; Gengler, Nicolas

2010-01-01

Genetic correlations between body condition score (BCS) in lactation 1 to 3 and four economically important traits (days open, 305-days milk, fat, and protein yields recorded in the first 3 lactations) were estimated on about 12,500 Walloon Holstein cows using 4-trait random regression models. Results indicated moderate favorable genetic correlations between BCS and days open (from -0.46 to -0.62) and suggested the use of BCS for indirect selection on fertility. However, unfavorable genetic c...

Genetic and phenotypic correlations between surrogate measures of insulin release obtained from OGTT data

DEFF Research Database (Denmark)

Gjesing, Anette Marianne Prior; Ribel-Madsen, Rasmus; Harder, Marie Neergaard

2015-01-01

closely related to fasting insulin with a genetic correlation of 0.85. The effects of 82 selected susceptibility single nucleotide polymorphisms on these insulin secretion indices supported our interpretation of the data and added insight into the biological differences between the examined traits......AIMS/HYPOTHESIS: We examined the extent to which surrogate measures of insulin release have shared genetic causes. METHODS: Genetic and phenotypic correlations were calculated in a family cohort (n = 315) in which beta cell indices were estimated based on fasting and oral glucose-stimulated plasma...... glucose, serum C-peptide and serum insulin levels. Furthermore, we genotyped a large population-based cohort (n = 6,269) for common genetic variants known to associate with type 2 diabetes, fasting plasma glucose levels or fasting serum insulin levels to examine their association with various indices...

Alcohol use disorder and divorce: evidence for a genetic correlation in a population-based Swedish sample.

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Salvatore, Jessica E; Larsson Lönn, Sara; Sundquist, Jan; Lichtenstein, Paul; Sundquist, Kristina; Kendler, Kenneth S

2017-04-01

We tested the association between alcohol use disorder (AUD) and divorce; estimated the genetic and environmental influences on divorce; estimated how much genetic and environmental influences accounted for covariance between AUD and divorce; and estimated latent genetic and environmental correlations between AUD and divorce. We tested sex differences in these effects. We identified twin and sibling pairs with AUD and divorce information in Swedish national registers. We described the association between AUD and divorce using tetrachorics and used twin and sibling models to estimate genetic and environmental influences on divorce, on the covariance between AUD and divorce and the latent genetic and environmental correlations between AUD and divorce. Sweden. A total of 670 836 individuals (53% male) born 1940-1965. Life-time measures of AUD and divorce. AUD and divorce were related strongly (males: r tet  = +0.44, 95% CI = 0.43, 0.45; females r tet  = +0.37, 95% CI = 0.36, 0.38). Genetic factors accounted for a modest proportion of the variance in divorce (males: 21.3%, 95% CI = 7.6, 28.5; females: 31.0%, 95% CI = 18.8, 37.1). Genetic factors accounted for most of the covariance between AUD and divorce (males: 52.0%, 95% CI = 48.8, 67.9; females: 53.74%, 95% CI = 17.6, 54.5), followed by non-shared environmental factors (males: 45.0%, 95% CI = 37.5, 54.9; females: 41.6%, 95% CI = 40.3, 60.2). Shared environmental factors accounted for a negligible proportion of the covariance (males: 3.0%, 95% CI = -3.0, 13.5; females: 4.75%, 95% CI = 0.0, 6.6). The AUD-divorce genetic correlations were high (males: rA = +0.76, 95% CI = 0.53, 0.90; females +0.52, 95% CI = 0.24, 0.67). The non-shared environmental correlations were modest (males: rE = +0.32, 95% CI = 0.31, 0.40; females: +0.27, 95% CI = 0.27, 0.36). Divorce and alcohol use disorder are correlated strongly in the Swedish population, and the heritability of divorce is consistent

The genetics of music accomplishment: evidence for gene-environment correlation and interaction.

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Hambrick, David Z; Tucker-Drob, Elliot M

2015-02-01

Theories of skilled performance that emphasize training history, such as K. Anders Ericsson and colleagues' deliberate-practice theory, have received a great deal of recent attention in both the scientific literature and the popular press. Twin studies, however, have demonstrated evidence for moderate-to-strong genetic influences on skilled performance. Focusing on musical accomplishment in a sample of over 800 pairs of twins, we found evidence for gene-environment correlation, in the form of a genetic effect on music practice. However, only about one quarter of the genetic effect on music accomplishment was explained by this genetic effect on music practice, suggesting that genetically influenced factors other than practice contribute to individual differences in music accomplishment. We also found evidence for gene-environment interaction, such that genetic effects on music accomplishment were most pronounced among those engaging in music practice, suggesting that genetic potentials for skilled performance are most fully expressed and fostered by practice.

Genetic Correlations between Young Horse and Dressage Competition Results in Danish Warmblood Horses

DEFF Research Database (Denmark)

Jönsson, Lina Johanna Maria; Christiansen, Karina; Holm, Maiken

2014-01-01

.13˗0.48) than the breeding goal trait of dressage competition results (0.16). Young horse results showed medium high to high genetic correlations to dressage competition results (0.32˗0.91) where most recorded young horse gait- and conformation scores contributed with considerable information to future dressage...... competition results. If considering both accuracy of each young horse trait and genetic correlation to dressage competition results, as rg×rIA, the best young horse indicator traits for future performance were capacity, trot, canter, and rideability, all under own rider. Most important conformation traits...

Genetic correlations between ewe reproduction and carcass and meat quality traits in Merino sheep.

Science.gov (United States)

Safari, E; Fogarty, N M; Hopkins, D L; Greeff, J C; Brien, F D; Atkins, K D; Mortimer, S I; Taylor, P J; van der Werf, J H J

2008-12-01

Genetic correlations between reproduction traits in ewes and carcass and meat quality traits in Merino rams were obtained using restricted maximum likelihood procedures. The carcass data were from 5870 Merino rams slaughtered at approximately 18 months of age that were the progeny of 543 sires from three research resource flocks over 7 years. The carcass traits included ultrasound scan fat and eye muscle depth (EMDUS) measured on live animals, dressing percentage and carcass tissue depth (at the GR site FATGR and C site FATC), eye muscle depth, width and area and the meat quality indicator traits of muscle final pH and colour (L*, a*, b*). The reproduction data consisted of 13 464 ewe joining records for number of lambs born and weaned and 9015 records for LS. The genetic correlations between reproduction and fat measurements were negative (range -0.06 +/- 0.12 to -0.37 +/- 0.12), with smaller correlations for live measurement than carcass traits. There were small favourable genetic correlations between reproduction traits and muscle depth in live rams (EMDUS, 0.10 +/- 0.12 to 0.20 +/- 0.12), although those with carcass muscle traits were close to zero. The reproduction traits were independent of meat colour L* (relative brightness), but tended to be favourably correlated with meat colour a* (relative redness, 0.12 +/- 0.17 to 0.19 +/- 0.16). There was a tendency for meat final pH to have small negative favourable genetic correlations with reproduction traits (0.05 +/- 0.11 to -0.17 +/- 0.12). This study indicates that there is no antagonism between reproduction traits and carcass and meat quality indicator traits, with scope for joint improvement of reproduction, carcass and meat quality traits in Merino sheep.

Genetic diversity of Trichomonas vaginalis reinfection in HIV-positive women.

Science.gov (United States)

Conrad, Melissa D; Kissinger, Patricia; Schmidt, Norine; Martin, David H; Carlton, Jane M

2013-09-01

Recently developed genotyping tools allow better understanding of Trichomonas vaginalis population genetics and epidemiology. These tools have yet to be applied to T vaginalis collected from HIV+ populations, where understanding the interaction between the pathogens is of great importance due to the correlation between T vaginalis infection and HIV transmission. The objectives of the study were twofold: first, to compare the genetic diversity and population structure of T vaginalis collected from HIV+ women with parasites from reference populations; second, to use the genetic markers to perform a case study demonstrating the usefulness of these techniques in investigating the mechanisms of repeat infections. Repository T vaginalis samples from a previously described treatment trial were genotyped at 11 microsatellite loci. Estimates of genetic diversity and population structure were determined using standard techniques and compared with previously reported estimates of global populations. Genotyping data were used in conjunction with behavioural data to evaluate mechanisms of repeat infections. T vaginalis from HIV+ women maintain many of the population genetic characteristics of parasites from global reference populations. Although there is evidence of reduced diversity and bias towards type 1 parasites in the HIV+ population, the populations share a two-type population structure and parasite haplotypes. Genotyping/behavioural data suggest that 36% (12/33) of repeat infections in HIV+ women can be attributed to treatment failure. T vaginalis infecting HIV+ women is not genetically distinct from T vaginalis infecting reference populations. Information from genotyping can be valuable for understanding mechanisms of repeat infections.

Genetics and intelligence differences: five special findings

Science.gov (United States)

Plomin, R; Deary, I J

2015-01-01

Intelligence is a core construct in differential psychology and behavioural genetics, and should be so in cognitive neuroscience. It is one of the best predictors of important life outcomes such as education, occupation, mental and physical health and illness, and mortality. Intelligence is one of the most heritable behavioural traits. Here, we highlight five genetic findings that are special to intelligence differences and that have important implications for its genetic architecture and for gene-hunting expeditions. (i) The heritability of intelligence increases from about 20% in infancy to perhaps 80% in later adulthood. (ii) Intelligence captures genetic effects on diverse cognitive and learning abilities, which correlate phenotypically about 0.30 on average but correlate genetically about 0.60 or higher. (iii) Assortative mating is greater for intelligence (spouse correlations ~0.40) than for other behavioural traits such as personality and psychopathology (~0.10) or physical traits such as height and weight (~0.20). Assortative mating pumps additive genetic variance into the population every generation, contributing to the high narrow heritability (additive genetic variance) of intelligence. (iv) Unlike psychiatric disorders, intelligence is normally distributed with a positive end of exceptional performance that is a model for ‘positive genetics'. (v) Intelligence is associated with education and social class and broadens the causal perspectives on how these three inter-correlated variables contribute to social mobility, and health, illness and mortality differences. These five findings arose primarily from twin studies. They are being confirmed by the first new quantitative genetic technique in a century—Genome-wide Complex Trait Analysis (GCTA)—which estimates genetic influence using genome-wide genotypes in large samples of unrelated individuals. Comparing GCTA results to the results of twin studies reveals important insights into the genetic

Positive-operator-valued measure optimization of classical correlations

NARCIS (Netherlands)

Hamieh, S; Kobes, R; Zaraket, H

We study the problem of optimization over positive-operator-valued measures to extract classical correlation in a bipartite quantum system. The proposed method is applied to binary states only. Moreover, to illustrate this method, an explicit example is studied in detail.

On the relationship between positive and negative affect: Their correlation and their co-occurrence.

Science.gov (United States)

Larsen, Jeff T; Hershfield, Hal E; Stastny, Bradley J; Hester, Neil

2017-03-01

Understanding the nature of emotional experience requires understanding the relationship between positive and negative affect. Two particularly important aspects of that relationship are the extent to which positive and negative affect are correlated with one another and the extent to which they co-occur. Some researchers have assumed that weak negative correlations imply greater co-occurrence (i.e., more mixed emotions) than do strong negative correlations, but others have noted that correlations may imply very little about co-occurrence. We investigated the relationship between the correlation between positive and negative affect and co-occurrence. Participants in each of 2 samples provided moment-to-moment happiness and sadness ratings as they watched an evocative film and listened to music. Results indicated (a) that 4 measures of the correlation between positive and negative affect were quite highly related to 1 another; (b) that the strength of the correlation between measures of mixed emotions varied considerably; (c) that correlational measures were generally (but not always) weakly correlated with mixed emotion measures; and (d) that bittersweet stimuli consistently led to elevations in mixed emotion measures but did not consistently weaken the correlation between positive and negative affect. Results highlight that the correlation between positive and negative affect and their co-occurrence are distinct aspects of the relationship between positive and negative affect. Such insight helps clarify the implications of existing work on age-related and cultural differences in emotional experience and sets the stage for greater understanding of the experience of mixed emotions. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Lateral sesamoid position in hallux valgus: correlation with the conventional radiological assessment.

Science.gov (United States)

Agrawal, Yuvraj; Desai, Aravind; Mehta, Jaysheel

2011-12-01

We aimed to quantify the severity of the hallux valgus based on the lateral sesamoid position and to establish a correlation of our simple assessment method with the conventional radiological assessments. We reviewed one hundred and twenty two dorso-plantar weight bearing radiographs of feet. The intermetatarsal and hallux valgus angles were measured by the conventional methods; and the position of lateral sesamoid in relation to first metatarsal neck was assessed by our new and simple method. Significant correlation was noted between intermetatarsal angle and lateral sesamoid position (Rho 0.74, p lateral sesamoid position and hallux valgus angle (Rho 0.56, p lateral sesamoid position is simple, less time consuming and has statistically significant correlation with that of the established conventional radiological measurements. Copyright © 2011 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

Correlations between heterozygosity and measures of genetic similarity: implications for understanding mate choice.

Science.gov (United States)

Roberts, S C; Hale, M L; Petrie, M

2006-03-01

There is currently considerable interest in testing the effects of genetic compatibility and heterozygosity on animal mate preferences. Evidence for either effect is rapidly accumulating, although results are not always clear-cut. However, correlations between mating preferences and either genetic similarity or heterozygosity are usually tested independently, and the possibility that similarity and heterozygosity may be confounded has rarely been taken into account. Here we show that measures of genetic similarity (allele sharing, relatedness) may be correlated with heterozygosity, using data from 441 human individuals genotyped at major loci in the major histocompatibility complex, and 281 peafowl (Pavo cristatus) individuals genotyped at 13 microsatellite loci. We show that average levels of allele sharing and relatedness are each significantly associated with heterozygosity in both humans and peafowl, that these relationships are influenced by the level of polymorphism, and that these similarity measures may correlate with heterozygosity in qualitatively different ways. We discuss the implications of these inter-relationships for interpretation of mate choice studies. It has recently become apparent that mating preferences for 'good genes' and 'compatible genes' may introduce discordant choice amongst individuals, since the optimal mate for one trait may not be optimal for the other, and our results are consistent with this idea. The inter-relationship between these measures of genetic quality also carries implications for the way in which mate choice studies are designed and interpreted, and generates predictions that can be tested in future research.

Genetic parameters of infectious bovine keratoconjunctivitis and its relationship with weight and parasite infestations in Australian tropical Bos taurus cattle

DEFF Research Database (Denmark)

Ali, A.; O'Neill, C.J.; Thomson, P.C.

2012-01-01

recorded for tick counts, helminth eggs counts as an indicator of intestinal parasites and live weights at several ages including 18 months. Results: Negative genetic correlations were estimated between IBK incidence and weight traits for animals in pre-weaning and post-weaning datasets. Genetic......Background: Infectious bovine keratoconjunctivitis (IBK) or 'pinkeye' is an economically important ocular disease that significantly impacts animal performance. Genetic parameters for IBK infection and its genetic and phenotypic correlations with cattle tick counts, number of helminth (unspecified...... correlations among weight measurements were positive, with moderate to high values. Genetic correlations of IBK incidence with tick counts were positive for the pre-weaning and negative for the post-weaning datasets but negative with helminth eggs counts for the pre-weaning dataset and slightly positive...

Differential trypanocidal activity of novel macrolide antibiotics; correlation to genetic lineage.

Science.gov (United States)

Aquilino, Carolina; Gonzalez Rubio, Maria Luisa; Seco, Elena Maria; Escudero, Leticia; Corvo, Laura; Soto, Manuel; Fresno, Manuel; Malpartida, Francisco; Bonay, Pedro

2012-01-01

Here we report the systematic study of the anti-trypanocidal activity of some new products derived from S. diastatus on 14 different T. cruzi strains spanning the six genetic lineages of T. cruzi. As the traditional growth inhibition curves giving similar IC(50) showed great differences on antibiotic and lineage tested, we decided to preserve the wealth of information derived from each inhibition curve and used an algorithm related to potency of the drugs, combined in a matrix data set used to generate a cluster tree. The cluster thus generated based just on drug susceptibility data closely resembles the phylogenies of the lineages derived from genetic data and provides a novel approach to correlate genetic data with phenotypes related to pathogenesis of Chagas disease. Furthermore we provide clues on the drugs mechanism of action.

Generating Improved Experimental Designs with Spatially and Genetically Correlated Observations Using Mixed Models

Directory of Open Access Journals (Sweden)

Lazarus K. Mramba

2018-03-01

Full Text Available The aim of this study was to generate and evaluate the efficiency of improved field experiments while simultaneously accounting for spatial correlations and different levels of genetic relatedness using a mixed models framework for orthogonal and non-orthogonal designs. Optimality criteria and a search algorithm were implemented to generate randomized complete block (RCB, incomplete block (IB, augmented block (AB and unequally replicated (UR designs. Several conditions were evaluated including size of the experiment, levels of heritability, and optimality criteria. For RCB designs with half-sib or full-sib families, the optimization procedure yielded important improvements under the presence of mild to strong spatial correlation levels and relatively low heritability values. Also, for these designs, improvements in terms of overall design efficiency (ODE% reached values of up to 8.7%, but these gains varied depending on the evaluated conditions. In general, for all evaluated designs, higher ODE% values were achieved from genetically unrelated individuals compared to experiments with half-sib and full-sib families. As expected, accuracy of prediction of genetic values improved as levels of heritability and spatial correlations increased. This study has demonstrated that important improvements in design efficiency and prediction accuracies can be achieved by optimizing how the levels of a treatment are assigned to the experimental units.

In search of genetic constraints limiting the evolution of egg size: direct and correlated responses to artificial selection on a prenatal maternal effector.

Science.gov (United States)

Pick, J L; Hutter, P; Tschirren, B

2016-06-01

Maternal effects are an important force in nature, but the evolutionary dynamics of the traits that cause them are not well understood. Egg size is known to be a key mediator of prenatal maternal effects with an established genetic basis. In contrast to theoretical expectations for fitness-related traits, there is a large amount of additive genetic variation in egg size observed in natural populations. One possible mechanism for the maintenance of this variation is through genetic constraints caused by a shared genetic basis among traits. Here we created replicated, divergent selection lines for maternal egg investment in Japanese quail (Coturnix japonica) to quantify the role of genetic constraints in the evolution of egg size. We found that egg size responds rapidly to selection, accompanied by a strong response in all egg components. Initially, we observed a correlated response in body size, but this response declined over time, showing that egg size and body size can evolve independently. Furthermore, no correlated response in fecundity (measured as the proportion of days on which a female laid an egg) was observed. However, the response to selection was asymmetrical, with egg size plateauing after one generation of selection in the high but not the low investment lines. We attribute this pattern to the presence of genetic asymmetries, caused by directional dominance or unequal allele frequencies. Such asymmetries may contribute to the evolutionary stasis in egg size observed in natural populations, despite a positive association between egg size and fitness.

Prevalence, heritability and genetic correlations of congenital sensorineural deafness and pigmentation phenotypes in the Border Collie.

Science.gov (United States)

De Risio, Luisa; Lewis, Tom; Freeman, Julia; de Stefani, Alberta; Matiasek, Lara; Blott, Sarah

2011-06-01

The objectives of this study were to estimate prevalence, heritability and genetic correlations of congenital sensorineural deafness (CSD) and pigmentation phenotypes in the Border Collie. Entire litters of Border Collies that presented to the Animal Health Trust (1994-2008) for assessment of hearing status by brain stem auditory evoked response (BAER) at 4-10 weeks of age were included. Heritability and genetic correlations were estimated using residual maximum likelihood (REML). Of 4143 puppies that met the inclusion criteria, 97.6% had normal hearing status, 2.0% were unilaterally deaf and 0.4% were bilaterally deaf. Heritability of deafness as a trichotomous trait (normal/unilaterally deaf/bilaterally deaf) was estimated at 0.42 using multivariate analysis. Genetic correlations of deafness with iris colour and merle coat colour were 0.58 and 0.26, respectively. These results indicate that there is a significant genetic effect on CSD in Border Collies and that some of the genes determining deafness also influence pigmentation phenotypes. Copyright © 2010 Elsevier Ltd. All rights reserved.

Genetic parameters of infectious bovine keratoconjunctivitis and its relationship with weight and parasite infestations in Australian tropical Bos taurus cattle

Directory of Open Access Journals (Sweden)

Ali Abdirahman A

2012-07-01

Full Text Available Abstract Background Infectious bovine keratoconjunctivitis (IBK or ‘pinkeye’ is an economically important ocular disease that significantly impacts animal performance. Genetic parameters for IBK infection and its genetic and phenotypic correlations with cattle tick counts, number of helminth (unspecified species eggs per gram of faeces and growth traits in Australian tropically adapted Bos taurus cattle were estimated. Methods Animals were clinically examined for the presence of IBK infection before and after weaning when the calves were 3 to 6 months and 15 to 18 months old, respectively and were also recorded for tick counts, helminth eggs counts as an indicator of intestinal parasites and live weights at several ages including 18 months. Results Negative genetic correlations were estimated between IBK incidence and weight traits for animals in pre-weaning and post-weaning datasets. Genetic correlations among weight measurements were positive, with moderate to high values. Genetic correlations of IBK incidence with tick counts were positive for the pre-weaning and negative for the post-weaning datasets but negative with helminth eggs counts for the pre-weaning dataset and slightly positive for the post-weaning dataset. Genetic correlations between tick and helminth eggs counts were moderate and positive for both datasets. Phenotypic correlations of IBK incidence with helminth eggs per gram of faeces were moderate and positive for both datasets, but were close to zero for both datasets with tick counts. Conclusions Our results suggest that genetic selection against IBK incidence in tropical cattle is feasible and that calves genetically prone to acquire IBK infection could also be genetically prone to have a slower growth. The positive genetic correlations among weight traits and between tick and helminth eggs counts suggest that they are controlled by common genes (with pleiotropic effects. Genetic correlations between IBK incidence

Genetic parameters of infectious bovine keratoconjunctivitis and its relationship with weight and parasite infestations in Australian tropical Bos taurus cattle.

Science.gov (United States)

Ali, Abdirahman A; O'Neill, Christopher J; Thomson, Peter C; Kadarmideen, Haja N

2012-07-27

Infectious bovine keratoconjunctivitis (IBK) or 'pinkeye' is an economically important ocular disease that significantly impacts animal performance. Genetic parameters for IBK infection and its genetic and phenotypic correlations with cattle tick counts, number of helminth (unspecified species) eggs per gram of faeces and growth traits in Australian tropically adapted Bos taurus cattle were estimated. Animals were clinically examined for the presence of IBK infection before and after weaning when the calves were 3 to 6 months and 15 to 18 months old, respectively and were also recorded for tick counts, helminth eggs counts as an indicator of intestinal parasites and live weights at several ages including 18 months. Negative genetic correlations were estimated between IBK incidence and weight traits for animals in pre-weaning and post-weaning datasets. Genetic correlations among weight measurements were positive, with moderate to high values. Genetic correlations of IBK incidence with tick counts were positive for the pre-weaning and negative for the post-weaning datasets but negative with helminth eggs counts for the pre-weaning dataset and slightly positive for the post-weaning dataset. Genetic correlations between tick and helminth eggs counts were moderate and positive for both datasets. Phenotypic correlations of IBK incidence with helminth eggs per gram of faeces were moderate and positive for both datasets, but were close to zero for both datasets with tick counts. Our results suggest that genetic selection against IBK incidence in tropical cattle is feasible and that calves genetically prone to acquire IBK infection could also be genetically prone to have a slower growth. The positive genetic correlations among weight traits and between tick and helminth eggs counts suggest that they are controlled by common genes (with pleiotropic effects). Genetic correlations between IBK incidence and tick and helminth egg counts were moderate and opposite between pre

Differential trypanocidal activity of novel macrolide antibiotics; correlation to genetic lineage.

Directory of Open Access Journals (Sweden)

Carolina Aquilino

Full Text Available Here we report the systematic study of the anti-trypanocidal activity of some new products derived from S. diastatus on 14 different T. cruzi strains spanning the six genetic lineages of T. cruzi. As the traditional growth inhibition curves giving similar IC(50 showed great differences on antibiotic and lineage tested, we decided to preserve the wealth of information derived from each inhibition curve and used an algorithm related to potency of the drugs, combined in a matrix data set used to generate a cluster tree. The cluster thus generated based just on drug susceptibility data closely resembles the phylogenies of the lineages derived from genetic data and provides a novel approach to correlate genetic data with phenotypes related to pathogenesis of Chagas disease. Furthermore we provide clues on the drugs mechanism of action.

Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection.

Directory of Open Access Journals (Sweden)

Cornelia Di Gaetano

Full Text Available The peculiar position of Sardinia in the Mediterranean sea has rendered its population an interesting biogeographical isolate. The aim of this study was to investigate the genetic population structure, as well as to estimate Runs of Homozygosity and regions under positive selection, using about 1.2 million single nucleotide polymorphisms genotyped in 1077 Sardinian individuals. Using four different methods--fixation index, inflation factor, principal component analysis and ancestry estimation--we were able to highlight, as expected for a genetic isolate, the high internal homogeneity of the island. Sardinians showed a higher percentage of genome covered by RoHs>0.5 Mb (F(RoH%0.5 when compared to peninsular Italians, with the only exception of the area surrounding Alghero. We furthermore identified 9 genomic regions showing signs of positive selection and, we re-captured many previously inferred signals. Other regions harbor novel candidate genes for positive selection, like TMEM252, or regions containing long non coding RNA. With the present study we confirmed the high genetic homogeneity of Sardinia that may be explained by the shared ancestry combined with the action of evolutionary forces.

Genetic line comparisons and genetic parameters for endoparasite infections and test-day milk production traits.

Science.gov (United States)

May, Katharina; Brügemann, Kerstin; Yin, Tong; Scheper, Carsten; Strube, Christina; König, Sven

2017-09-01

protein content were negative for all DIM. Apart from the very early and very late lactation stage, genetic correlations between FEC-GIN and milk fat content were negative, whereas they were positive for FEC-FLU. Genetic correlations between FEC-GIN and somatic cell score were positive, indicating similar genetic mechanisms for susceptibility to udder and endoparasite infections. The moderate heritabilities for FEC-FLU suggest inclusion of FEC-FLU into overall organic dairy cattle breeding goals to achieve long-term selection response for disease resistance. Copyright © 2017 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Site-to-site genetic correlations and their implications on breeding zone size and optimum number of progeny test sites for Coastal Douglas-fir.

Science.gov (United States)

G.R. Johnson

1997-01-01

Type B genetic correlations were used to examine the relation among geographic differences between sites and their site-to-site genetic (Type B) correlations. Examination of six local breeding zones in Oregon indicated that breeding zones were, for the most part, not too large because few environmental variables were correlated with Type B genetic correlations. The...

Positive Aspects of Caregiving and Its Correlates among Caregivers of Bipolar Affective Disorder.

Science.gov (United States)

Grover, S; Kate, N; Chakrabarti, S; Avasthi, A

2017-12-01

To evaluate the positive aspects of caregiving and its correlates (socio-demographic and clinical variables, caregiver burden, coping, quality of life, psychological morbidity) in the primary caregivers of patients with bipolar affective disorder (BPAD). A total of 60 primary caregivers of patients with a diagnosis of BPAD were evaluated on the Scale for Positive Aspects of Caregiving Experience (SPACE) and the Hindi version of Involvement Evaluation Questionnaire, Family Burden Interview Schedule (FBIS), modified Hindi version of Coping Checklist, shorter Hindi version of the World Health Organization Quality of Life (WHOQOL-BREF), and Hindi translated version of 12-item General Health Questionnaire (GHQ-12). Caregivers of patients with BPAD had the highest mean score in the SPACE domain of Motivation for caregiving role (2.45), followed by Caregiver satisfaction (2.38) and Caregiving personal gains (2.20). The mean score was the lowest for the domain of Self-esteem and social aspect of caring (2.01). In terms of correlations, age of onset of BPAD had a negative correlation with various domains of SPACE. The mean number of total lifetime affective and depressive episodes correlated positively with Self-esteem and social aspect of caring. Caregiver satisfaction correlated negatively with FBIS domains of Disruption of routine family activities, Effect on mental health of others, and subjective burden. Coercion as a coping mechanism correlated positively with domains of Caregiving personal gains, Caregiver satisfaction, and the total score on SPACE. Three (Physical health, Psychological health, Environment) out of 5 domains of the WHOQOL-BREF correlated positively with the total SPACE score. No association was noted between GHQ-12 and SPACE scores. Positive caregiving experience in primary caregivers of patients with BPAD is associated with better quality of life of the caregivers.

Genetic pleiotropy explains associations between musical auditory discrimination and intelligence.

Science.gov (United States)

Mosing, Miriam A; Pedersen, Nancy L; Madison, Guy; Ullén, Fredrik

2014-01-01

Musical aptitude is commonly measured using tasks that involve discrimination of different types of musical auditory stimuli. Performance on such different discrimination tasks correlates positively with each other and with intelligence. However, no study to date has explored these associations using a genetically informative sample to estimate underlying genetic and environmental influences. In the present study, a large sample of Swedish twins (N = 10,500) was used to investigate the genetic architecture of the associations between intelligence and performance on three musical auditory discrimination tasks (rhythm, melody and pitch). Phenotypic correlations between the tasks ranged between 0.23 and 0.42 (Pearson r values). Genetic modelling showed that the covariation between the variables could be explained by shared genetic influences. Neither shared, nor non-shared environment had a significant effect on the associations. Good fit was obtained with a two-factor model where one underlying shared genetic factor explained all the covariation between the musical discrimination tasks and IQ, and a second genetic factor explained variance exclusively shared among the discrimination tasks. The results suggest that positive correlations among musical aptitudes result from both genes with broad effects on cognition, and genes with potentially more specific influences on auditory functions.

Genetic correlations among body condition score, yield, and fertility in first-parity cows estimated by random regression models.

Science.gov (United States)

Veerkamp, R F; Koenen, E P; De Jong, G

2001-10-01

Twenty type classifiers scored body condition (BCS) of 91,738 first-parity cows from 601 sires and 5518 maternal grandsires. Fertility data during first lactation were extracted for 177,220 cows, of which 67,278 also had a BCS observation, and first-lactation 305-d milk, fat, and protein yields were added for 180,631 cows. Heritabilities and genetic correlations were estimated using a sire-maternal grandsire model. Heritability of BCS was 0.38. Heritabilities for fertility traits were low (0.01 to 0.07), but genetic standard deviations were substantial, 9 d for days to first service and calving interval, 0.25 for number of services, and 5% for first-service conception. Phenotypic correlations between fertility and yield or BCS were small (-0.15 to 0.20). Genetic correlations between yield and all fertility traits were unfavorable (0.37 to 0.74). Genetic correlations with BCS were between -0.4 and -0.6 for calving interval and days to first service. Random regression analysis (RR) showed that correlations changed with days in milk for BCS. Little agreement was found between variances and correlations from RR, and analysis including a single month (mo 1 to 10) of data for BCS, especially during early and late lactation. However, this was due to excluding data from the conventional analysis, rather than due to the polynomials used. RR and a conventional five-traits model where BCS in mo 1, 4, 7, and 10 was treated as a separate traits (plus yield or fertility) gave similar results. Thus a parsimonious random regression model gave more realistic estimates for the (co)variances than a series of bivariate analysis on subsets of the data for BCS. A higher genetic merit for yield has unfavorable effects on fertility, but the genetic correlation suggests that BCS (at some stages of lactation) might help to alleviate the unfavorable effect of selection for higher yield on fertility.

Genetic and environmental correlates of morphological variation in a marine fish: the case of Baltic Sea herring ( Clupea harengus )

DEFF Research Database (Denmark)

Jørgensen, H.B.H.; Pertoldi, C.; Hansen, Michael Møller

2008-01-01

Baltic Sea herring (Clupea harengus) have been shown to exhibit morphological differences across the marked salinity and temperature gradients in the region. Here we analyse genetic (nine microsatellite loci), morpho metric (skull shape), and meristic (pectoral fin rays and number of vertebrae...... and plastic responses. Skull shape, including and excluding size variation, differed significantly among samples, both temporally and spatially. Genetic and morphometric distances were correlated, especially when size variation was excluded from the analysis. When size variation was included, skull shape...... variation was more closely correlated with environmental distances among spawning locations. Vertebrate number differed among samples and was correlated with environmental distances, whereas the number of fin rays was not. Genetic and geographic distances among samples were not correlated....

Natural selection affects multiple aspects of genetic variation at putatively neutral sites across the human genome.

Science.gov (United States)

Lohmueller, Kirk E; Albrechtsen, Anders; Li, Yingrui; Kim, Su Yeon; Korneliussen, Thorfinn; Vinckenbosch, Nicolas; Tian, Geng; Huerta-Sanchez, Emilia; Feder, Alison F; Grarup, Niels; Jørgensen, Torben; Jiang, Tao; Witte, Daniel R; Sandbæk, Annelli; Hellmann, Ines; Lauritzen, Torsten; Hansen, Torben; Pedersen, Oluf; Wang, Jun; Nielsen, Rasmus

2011-10-01

A major question in evolutionary biology is how natural selection has shaped patterns of genetic variation across the human genome. Previous work has documented a reduction in genetic diversity in regions of the genome with low recombination rates. However, it is unclear whether other summaries of genetic variation, like allele frequencies, are also correlated with recombination rate and whether these correlations can be explained solely by negative selection against deleterious mutations or whether positive selection acting on favorable alleles is also required. Here we attempt to address these questions by analyzing three different genome-wide resequencing datasets from European individuals. We document several significant correlations between different genomic features. In particular, we find that average minor allele frequency and diversity are reduced in regions of low recombination and that human diversity, human-chimp divergence, and average minor allele frequency are reduced near genes. Population genetic simulations show that either positive natural selection acting on favorable mutations or negative natural selection acting against deleterious mutations can explain these correlations. However, models with strong positive selection on nonsynonymous mutations and little negative selection predict a stronger negative correlation between neutral diversity and nonsynonymous divergence than observed in the actual data, supporting the importance of negative, rather than positive, selection throughout the genome. Further, we show that the widespread presence of weakly deleterious alleles, rather than a small number of strongly positively selected mutations, is responsible for the correlation between neutral genetic diversity and recombination rate. This work suggests that natural selection has affected multiple aspects of linked neutral variation throughout the human genome and that positive selection is not required to explain these observations.

Correlation and regression analyses of genetic effects for different types of cells in mammals under radiation and chemical treatment

International Nuclear Information System (INIS)

Slutskaya, N.G.; Mosseh, I.B.

2006-01-01

Data about genetic mutations under radiation and chemical treatment for different types of cells have been analyzed with correlation and regression analyses. Linear correlation between different genetic effects in sex cells and somatic cells have found. The results may be extrapolated on sex cells of human and mammals. (authors)

Makeup of the genetic correlation between milk production traits using genome-wide single nucleotide polymorphism information

NARCIS (Netherlands)

Binsbergen, van R.; Veerkamp, R.F.; Calus, M.P.L.

2012-01-01

The correlated responses between traits may differ depending on the makeup of genetic covariances, and may differ from the predictions of polygenic covariances Therefore, the objective of the present study was to investigate the makeup of the genetic covariances between the well-studied traits: milk

Heritabilities and genetic correlations for honey yield, gentleness, calmness and swarming behaviour in Austrian honey bees

NARCIS (Netherlands)

Brascamp, Evert; Willam, Alfons; Boigenzahn, Christian; Bijma, Piter; Veerkamp, Roel F.

2016-01-01

Heritabilities and genetic correlations were estimated for honey yield and behavioural traits in Austrian honey bees using data on nearly 15,000 colonies of the bee breeders association Biene Österreich collected between 1995 and 2014. The statistical models used distinguished between the genetic

Genetic and Environmental Influences on Correlations Between Hearing and Cognitive Functions in Middle and Older Chinese Twins

DEFF Research Database (Denmark)

Xu, Chunsheng; Zhang, Dongfeng; Tian, Xiaocao

2017-01-01

, including 0.5 kHz, 1 kHz, 2 kHz, 4 kHz, 8 kHz, and 12.5 kHz, with the lower hearing thresholds indicating better hearing function. Cognitive and hearing functions were measured on 379 complete twin pairs (240 monozygotic and 139 dizygotic pairs) with a median age of 50 years (range: 40-80 years). Bivariate...... twin models were fitted to quantify the genetic and environmental components of the correlations between hearing and cognitive functions. The analysis showed significantly high genetic correlation between 2 kHz of hearing and cognition (r G = -1.00, 95% CI [-1.00, -0.46]) and moderate genetic...

Convergence of genetic and environmental factors on parvalbumin-positive interneurons in schizophrenia

Directory of Open Access Journals (Sweden)

Zhihong eJiang

2013-09-01

Full Text Available Schizophrenia etiology is thought to involve an interaction between genetic and environmental factors during postnatal brain development. However, there is a fundamental gap in our understanding of the molecular mechanisms by which environmental factors interact with genetic susceptibility to trigger symptom onset and disease progression. In this review, we summarize the most recent findings implicating oxidative stress as one mechanism by which environmental insults, especially early life social stress, impact the development of schizophrenia. Based on a review of the literature and the results of our own animal model, we suggest that environmental stressors such as social isolation render parvalbumin-positive interneurons vulnerable to oxidative stress. We previously reported that social isolation stress exacerbates many of the schizophrenia-like phenotypes seen in a conditional genetic mouse model of schizophrenia in which NMDARs are selectively ablated in half of cortical and hippocampal interneurons during early postnatal development (Belforte et al., 2010. We have since revealed that this social isolation-induced effect is caused by impairments in the antioxidant defense capacity in the parvalbumin-positive interneurons in which NMDARs are ablated. We propose that this effect is mediated by the down-regulation of PGC-1α, a master regulator of mitochondrial energy metabolism and anti-oxidant defense, following the deletion of NMDARs (Jiang et al, 2013. Other potential molecular mechanisms underlying redox dysfunction upon gene and environmental interaction will be discussed, with a focus on the unique properties of parvalbumin-positive interneurons.

Genetics of human body size and shape: pleiotropic and independent genetic determinants of adiposity.

Science.gov (United States)

Livshits, G; Yakovenko, K; Ginsburg, E; Kobyliansky, E

1998-01-01

The present study utilized pedigree data from three ethnically different populations of Kirghizstan, Turkmenia and Chuvasha. Principal component analysis was performed on a matrix of genetic correlations between 22 measures of adiposity, including skinfolds, circumferences and indices. Findings are summarized as follows: (1) All three genetic matrices were not positive definite and the first four factors retained even after exclusion RG > or = 1.0, explained from 88% to 97% of the total additive genetic variation in the 22 trials studied. This clearly emphasizes the massive involvement of pleiotropic gene effects in the variability of adiposity traits. (2) Despite the quite natural differences in pairwise correlations between the adiposity traits in the three ethnically different samples under study, factor analysis revealed a common basic pattern of covariability for the adiposity traits. In each of the three samples, four genetic factors were retained, namely, the amount of subcutaneous fat, the total body obesity, the pattern of distribution of subcutaneous fat and the central adiposity distribution. (3) Genetic correlations between the retained four factors were virtually non-existent, suggesting that several independent genetic sources may be governing the variation of adiposity traits. (4) Variance decomposition analysis on the obtained genetic factors leaves no doubt regarding the substantial familial and (most probably genetic) effects on variation of each factor in each studied population. The similarity of results in the three different samples indicates that the findings may be deemed valid and reliable descriptions of the genetic variation and covariation pattern of adiposity traits in the human species.

Correlation between working positions and lactic acid levels with musculoskeletal complaints among dentists

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Fiory Dioptis Putriwijaya

2016-12-01

Full Text Available Background: Musculoskeletal complaints have been common for dentists since their body is unknowingly often in inappropriate positions when caring for patients. For example, they bend towards patients, suddenly move, and then rotate from one side to another. The repetitive movements are done in long term. High activities and sufficient recovery time can cause a buildup of lactic acid in their blood leading to obstruction of the energy intake from the aerobic system in their muscle cells, resulting in fatigue. As a result, such conditions trigger decreased muscle performances. Purpose: This study aimed to determine the correlation between working positions and lactic acid levels with the risk of musculoskeletal disorders among dentists at Public Health Centers in Surabaya. Method: This research was an analytical observational research using cross sectional approach. Sampling technique used in this research was cluster random sampling with nineteen samples. To evaluate the working positions of those samples, a rapid entire body assessment (REBA method was used. Meanwhile, to observe the musculoskeletal disorders of those samples, a Nordic body map was used. Data obtained then were analyzed using Pearson correlation test with a significance level (p<0.05. Result: Results of data analysis using the Pearson correlation test showed that the significance value obtained was 0.036. It indicates that there was a correlation between the working positions and the lactic acid levels with the musculoskeletal disorders in those dentists. The results of the Pearson correlation test also revealed that there was a correlation between the working positions and the lactic acid levels among those dentists with a significance value of 0.025. Conclusion: It may be concluded that the wrong body positions during working can increase lactic acid level in the body of dentists. The increased level of lactic acid then can affect their muscles, leading to the high risk of

Basal metabolic rate is positively correlated with parental investment in laboratory mice

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Sadowska, Julita; Gębczyński, Andrzej K.; Konarzewski, Marek

2013-01-01

The assimilation capacity (AC) hypothesis for the evolution of endothermy predicts that the maternal basal metabolic rate (BMR) should be positively correlated with the capacity for parental investment. In this study, we provide a unique test of the AC model based on mice from a long-term selection experiment designed to produce divergent levels of BMR. By constructing experimental families with cross-fostered litters, we were able to control for the effect of the mother as well as the type of pup based on the selected lines. We found that mothers with genetically determined high levels of BMR were characterized by higher parental investment capacity, measured as the offspring growth rate. We also found higher food consumption and heavier visceral organs in the females with high BMR. These findings suggested that the high-BMR females have higher energy acquisition abilities. When the effect of the line type of a foster mother was controlled, the pup line type significantly affected the growth rate only in the first week of life, with young from the high-BMR line type growing more rapidly. Our results support the predictions of the AC model. PMID:23282996

Genetic correlations between claw health and feet and leg conformation in Norwegian Red cows.

Science.gov (United States)

Ødegård, C; Svendsen, M; Heringstad, B

2014-07-01

The aim of this study was to estimate genetic correlations between claw disorders and feet and leg conformation traits in Norwegian Red cows. A total of 188,928 cows with claw health status recorded at claw trimming from 2004 to September 2013 and 210,789 first-lactation cows with feet and leg conformation scores from 2001 to September 2013 were included in the analyses. Traits describing claw health were corkscrew claw, infectious claw disorders (dermatitis, heel horn erosion, and interdigital phlegmon), and laminitis-related claw disorders (sole ulcer, white line disorder, and hemorrhage of sole and white line). The feet and leg conformation traits were rear leg rear view (new and old definition), rear leg side view, foot angle, and hoof quality. Feet and leg conformation traits were scored linearly from 1 to 9, with optimum scores depending on the trait. Claw disorders were defined as binary (0/1) traits for each lactation. Threshold sire models were used to model claw disorders, whereas the feet and leg conformation traits were described by linear sire models. Three multivariate analyses were performed, each including the 5 feet and leg conformation traits and 1 of the 3 claw disorders at a time. Posterior means of heritability of liability of claw disorders ranged from 0.10 to 0.20 and heritabilities of feet and leg conformation traits ranged from 0.04 to 0.11. Posterior standard deviation of heritability was ≤0.01 for all traits. Genetic correlations between claw disorders and feet and leg conformation traits were all low or moderate, except between corkscrew claw and hoof quality (-0.86), which are supposed to measure the same trait. The genetic correlations between rear leg rear view (new) and infectious claw disorders (-0.20) and laminitis-related claw disorders (0.26), and between hoof quality and laminitis-related claw disorders (-0.33) were moderate. Eight of the 15 genetic correlations between claw disorders and feet and leg conformation traits had 0

Pantoea ananatis Genetic Diversity Analysis Reveals Limited Genomic Diversity as Well as Accessory Genes Correlated with Onion Pathogenicity

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Shaun P. Stice

2018-02-01

Full Text Available Pantoea ananatis is a member of the family Enterobacteriaceae and an enigmatic plant pathogen with a broad host range. Although P. ananatis strains can be aggressive on onion causing foliar necrosis and onion center rot, previous genomic analysis has shown that P. ananatis lacks the primary virulence secretion systems associated with other plant pathogens. We assessed a collection of fifty P. ananatis strains collected from Georgia over three decades to determine genetic factors that correlated with onion pathogenic potential. Previous genetic analysis studies have compared strains isolated from different hosts with varying diseases potential and isolation sources. Strains varied greatly in their pathogenic potential and aggressiveness on different cultivated Allium species like onion, leek, shallot, and chive. Using multi-locus sequence analysis (MLSA and repetitive extragenic palindrome repeat (rep-PCR techniques, we did not observe any correlation between onion pathogenic potential and genetic diversity among strains. Whole genome sequencing and pan-genomic analysis of a sub-set of 10 strains aided in the identification of a novel series of genetic regions, likely plasmid borne, and correlating with onion pathogenicity observed on single contigs of the genetic assemblies. We named these loci Onion Virulence Regions (OVR A-D. The OVR loci contain genes involved in redox regulation as well as pectate lyase and rhamnogalacturonase genes. Previous studies have not identified distinct genetic loci or plasmids correlating with onion foliar pathogenicity or pathogenicity on a single host pathosystem. The lack of focus on a single host system for this phytopathgenic disease necessitates the pan-genomic analysis performed in this study.

Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

DEFF Research Database (Denmark)

Posthuma, Daniëlle; Baare, Wim F.C.; Hulshoff Pol, Hilleke E.

2003-01-01

We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization...... to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related...

Positive Correlation Between Academic Library Services and High-Impact Practices for

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Saori Wendy Herman, MLIS, AHIP

2016-03-01

Full Text Available Objective – To investigate the perceived alignment between academic library services and high-impact practices (HIPs that affect student retention. Design – Survey questionnaire. Setting – Public comprehensive universities in the United States of America with a Carnegie classification of master’s level as of January 2013. Subjects – 68 library deans or directors out of the 271 who were originally contacted. Methods – The author used Qualtrics software to create a survey based on the HIPs, tested the survey for reliability, and then distributed it to 271 universities. Library services were grouped into 1 of 3 library scales: library collection, library instruction, or library facilities. The survey consisted of a matrix of 10 Likert-style questions addressing the perceived level of alignment between the library scales and the HIPs. Each question provided an opportunity for the respondent to enter a “brief description of support practices” (p 477. Additional demographic questions addressed the years of experience of the respondent, undergraduate student enrollment of the university, and whether librarians held faculty rank. Main Results – The author measured Pearson correlation coefficients and found a positive correlation between the library scales and the HIPs. All three library scales displayed a moderately strong positive correlation between first-year seminars and experiences (HIP 1, common intellectual experiences (HIP 2, writing-intensive courses (HIP 4, undergraduate research (HIP 6, diversity and global learning (HIP 7, service learning and community-based learning (HIP 8, internships (HIP 9, and capstone courses and projects (HIP 10. The library collections scale and library facilities scale displayed a moderately strong correlation with learning communities (HIP 3 and collaborative assignments and projects (HIP 5. The library instruction scale displayed a strong positive correlation with HIP 3 and a very strong

Rapid evolution of the intersexual genetic correlation for fitness in Drosophila melanogaster.

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Collet, Julie M; Fuentes, Sara; Hesketh, Jack; Hill, Mark S; Innocenti, Paolo; Morrow, Edward H; Fowler, Kevin; Reuter, Max

2016-04-01

Sexual antagonism (SA) arises when male and female phenotypes are under opposing selection, yet genetically correlated. Until resolved, antagonism limits evolution toward optimal sex-specific phenotypes. Despite its importance for sex-specific adaptation and existing theory, the dynamics of SA resolution are not well understood empirically. Here, we present data from Drosophila melanogaster, compatible with a resolution of SA. We compared two independent replicates of the "LHM " population in which SA had previously been described. Both had been maintained under identical, controlled conditions, and separated for around 200 generations. Although heritabilities of male and female fitness were similar, the intersexual genetic correlation differed significantly, being negative in one replicate (indicating SA) but close to zero in the other. Using population sequencing, we show that phenotypic differences were associated with population divergence in allele frequencies at nonrandom loci across the genome. Large frequency changes were more prevalent in the population without SA and were enriched at loci mapping to genes previously shown to have sexually antagonistic relationships between expression and fitness. Our data suggest that rapid evolution toward SA resolution has occurred in one of the populations and open avenues toward studying the genetics of SA and its resolution. © 2016 The Author(s). Evolution published by Wiley Periodicals, Inc. on behalf of The Society for the Study of Evolution.

147 - 154 Genetic Variability, Heritability and Correlation Coefficient

African Journals Online (AJOL)

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twelve upland rice genotypes during 2013 main cropping season. ... spikelet per panicle, number of filled grains per panicle and biomass yield had a positive and significant correlation ... fertilizers were applied at the rate of 100 kg per hectare. ..... ultimate effect for selecting superior varieties (Ali et al., .... (Brassica napus L.).

Movement of Genetic Counselors from Clinical to Non-clinical Positions: Identifying Driving Forces.

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Cohen, Stephanie A; Tucker, Megan E

2018-03-05

A previous study of genetic counselors (GCs) in the state of Indiana identified movement out of clinical positions within the past 2 years. The aims of this study were to determine if this trend is nationwide and identify reasons why GCs are leaving their positions and factors that might help employers attract and retain GCs. An email was sent to members of the American Board of Genetic Counseling with a link to an online confidential survey. There were 939 responses (23.5% response rate). Overall, 52% of GCs report being highly satisfied in their current position, although almost two thirds think about leaving and one third had changed jobs within the past 2 years. Of those who had changed jobs (n = 295), 74.9% had been working in a hospital/clinic setting but only 46.3% currently do, demonstrating a major shift out of the clinic (p < 0.001). The top three reasons cited for leaving a position were work environment/institutional climate, salary/benefits, and a lack of feeling valued/recognized as a professional. These results confirm that GCs are moving out of clinical positions and document elements of job satisfaction. We suggest points for employers to consider when trying to recruit or retain GCs.

Personality and divorce: a genetic analysis.

Science.gov (United States)

Jocklin, V; McGue, M; Lykken, D T

1996-08-01

M. McGue and D.T. Lykken (1992) found that divorce risk was, to a substantial degree, genetically mediated; prior research has identified numerous social and psychological factors that affect divorce risk (G.C. Kitson, K.B. Barbi, & M.J. Roach, 1985). The present study attempted to link these domains by examining the extent to which genetic influences on one such psychological factor, personality, explain divorce risk heritability. A sample of adult twins from the Minnesota Twin Registry completed a marital history questionnaire and the Multidimensional Personality Questionnaire (A. Tellegen, 1982). Positive Emotionality and Negative Emotionality factors were positively related to divorce risk, whereas Constraint was negatively related. In women and men, respectively, 30% and 42% of the heritability of divorce risk consisted of genetic factors affecting personality and divorce risk correlated largely as a result of these common genetic influences.

Genetic contributions to human brain morphology and intelligence

DEFF Research Database (Denmark)

Hulshoff Pol, HE; Schnack, HG; Posthuma, D

2006-01-01

Variation in gray matter (GM) and white matter (WM) volume of the adult human brain is primarily genetically determined. Moreover, total brain volume is positively correlated with general intelligence, and both share a common genetic origin. However, although genetic effects on morphology...... of specific GM areas in the brain have been studied, the heritability of focal WM is unknown. Similarly, it is unresolved whether there is a common genetic origin of focal GM and WM structures with intelligence. We explored the genetic influence on focal GM and WM densities in magnetic resonance brain images...

Correlation between oro and hypopharynx shape and position with endotracheal intubation difficulty

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Daher Rabadi

2014-12-01

Full Text Available Background and objective: Prediction of intubation difficulty can save patients from major preoperative morbidity or mortality. The purpose of this paper is to assess the correlation between oro-hypo pharynx position, neck size, and length with endotracheal intubation difficulty. The study also explored the diagnostic value of Friedman Staging System in prediction cases with difficult intubation. Method: The consecutive 500 ASA (I, II adult patients undergoing elective surgery were evaluated for oro and hypopharynx shape and position by modified Mallampati, Cormack and Lehane score as well as Friedman obstructive sleep apnea classification systems. Neck circumference and length were also measured. All cases were intubated by a single anesthesiologist who was uninformed of the above evaluation and graded intubation difficulty in visual analog score. Correlation between these findings and difficulty of intubation was assessed. Sensitivity, Specificity, Positive and Negative Predictive Values were also reported. Results: Cormack-Lehane grade had the strongest correlation with difficulty of intubation followed by Friedman palate position. Friedman palate position was the most sensitive and had higher positive and negative predictive values than modified Mallampati classification. Cormack-Lehane grade was found to be the most specific with the highest negative predictive value among the four studied classifications. Conclusion: Friedman palate position is a more useful, valuable and sensitive test compared to the modified Mallampati screening test for pre-anesthetic prediction of difficult intubation where its involvement in Multivariate model may raise the accuracy and diagnostic value of preoperative assessment of difficult airway.

Genetic parameters of eventing horse competition in France

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Chanu Isabelle

2001-03-01

Full Text Available Abstract Genetic parameters of eventing horse competitions were estimated. About 13 000 horses, 30 000 annual results during 17 years and 110 000 starts in eventing competitions during 8 years were recorded. The measures of performance were logarithmic transformations of annual earnings, annual earnings per start, and annual earnings per place, and underlying variables responsible for ranks in each competition. Heritabilities were low (0.11/0.17 for annual results, 0.07 for ranks. Genetic correlations between criteria were high (greater than 0.90 except between ranks and earnings per place (0.58 or per start (0.67. Genetic correlations between ages (from 5 to 10 years old were also high (more than 0.85 and allow selection on early performances. The genetic correlation between the results in different levels of competition (high/international and low/amateur was near 1. Genetic correlations of eventing with other disciplines, which included partial aptitude needed for eventing, were very low for steeplechase races (0.18 and moderate with sport: jumping (0.45, dressage (0.58. The results suggest that selection on jumping performance will lead to some positive correlated response for eventing performance, but much more response could be obtained if a specific breeding objective and selection criteria were developed for eventing.

Habitual physical activity levels are positively correlated with CD4 ...

African Journals Online (AJOL)

Habitual physical activity levels are positively correlated with CD4 counts in an ... per month) and functional independence as assessed from the responses to the ... and between CD4 cell counts and total habitual physical activity levels (p ...

Correlation of regional cerebral blood flow and positive/negative symptoms in schizophrenic patients: covariate SPM analysis

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Lim, Ki Chun; Kim, J. S.; Kim, C. Y.; Lee, H. K.; Moon, D. H. [Ulsan University, Seoul (Korea, Republic of)

2002-07-01

We investigated the relations between rCBF and psychopathology in schizophrenic patients using a SPM99. Thirty-two patients(M/F:22/10, 25{+-}5,6yr) with active symptoms of schizophrenia and 15 age matched normal controls underwent Tc-99m ECD brain perfusion SPECT. Psychopathology of all patients were also assessed according to PANSS (positive and negative syndrome scale in schizophrenia). By covariate SPM analysis, specific areas where rCBF correlated with sum scores of positive/negative synptoms were identified. Regional CBF of schizophrenics was different in several cortical regions from normal controls. Sum scores of positive symptoms were positively correlated with rCBF of both rectal and inferior frontal gyri and right transverse temporal gyrus, and negatively correlated with rCBF of left lingual and right middle temporal gyri (p<0.01). Sum scores of negative symptoms were positively correlated with rCBF of both middle temporal gyri and negatively correlated with rCBF of right superior parietal lobule and medial frontal gyrus (p<0.01). Positive and negative symptoms of schizophrenia were correlated with rCBF change in different regions of cerebral association cortex.

Correlation of regional cerebral blood flow and positive/negative symptoms in schizophrenic patients: covariate SPM analysis

International Nuclear Information System (INIS)

Lim, Ki Chun; Kim, J. S.; Kim, C. Y.; Lee, H. K.; Moon, D. H.

2002-01-01

We investigated the relations between rCBF and psychopathology in schizophrenic patients using a SPM99. Thirty-two patients(M/F:22/10, 25±5,6yr) with active symptoms of schizophrenia and 15 age matched normal controls underwent Tc-99m ECD brain perfusion SPECT. Psychopathology of all patients were also assessed according to PANSS (positive and negative syndrome scale in schizophrenia). By covariate SPM analysis, specific areas where rCBF correlated with sum scores of positive/negative synptoms were identified. Regional CBF of schizophrenics was different in several cortical regions from normal controls. Sum scores of positive symptoms were positively correlated with rCBF of both rectal and inferior frontal gyri and right transverse temporal gyrus, and negatively correlated with rCBF of left lingual and right middle temporal gyri (p<0.01). Sum scores of negative symptoms were positively correlated with rCBF of both middle temporal gyri and negatively correlated with rCBF of right superior parietal lobule and medial frontal gyrus (p<0.01). Positive and negative symptoms of schizophrenia were correlated with rCBF change in different regions of cerebral association cortex

Genetic relationships among body condition score, body weight, milk yield, and fertility in dairy cows.

Science.gov (United States)

Berry, D P; Buckley, F; Dillon, P; Evans, R D; Rath, M; Veerkamp, R F

2003-06-01

Genetic (co)variances between body condition score (BCS), body weight (BW), milk production, and fertility-related traits were estimated. The data analyzed included 8591 multiparous Holstein-Friesian cows with records for BCS, BW, milk production, and/or fertility from 78 seasonal calving grass-based farms throughout southern Ireland. Of the cows included in the analysis, 4402 had repeated records across the 2 yr of the study. Genetic correlations between level of BCS at different stages of lactation and total lactation milk production were negative (-0.51 to -0.14). Genetic correlations between BW at different stages of lactation and total lactation milk production were all close to zero but became positive (0.01 to 0.39) after adjusting BW for differences in BCS. Body condition score at different stages of lactation correlated favorably with improved fertility; genetic correlations between BCS and pregnant 63 d after the start of breeding season ranged from 0.29 to 0.42. Both BW at different stages of lactation and milk production tended to exhibit negative genetic correlations with pregnant to first service and pregnant 63 d after the start of the breeding season and positive genetic correlations with number of services and the interval from first service to conception. Selection indexes investigated illustrate the possibility of continued selection for increased milk production without any deleterious effects on fertility or average BCS, albeit, genetic merit for milk production would increase at a slower rate.

Correlation of circRNAs’ differential expression to negative- positive symptoms of patients with schizophrenia

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Ling-ming KONG

2017-11-01

Full Text Available Objective To explore the correlation of circRNAs' expression level to the negative- and positive symptoms of patients with schizophrenia (SZ. Methods Gene chip screening was performed with the peripheral blood samples from each five of SZ patients and normal controls. Nine circRNAs showing differentiate expression were confirmed, and further verification was done by real-time fluorescence quantitative PCR in 102 SZ patients and 103 normal controls. All the SZ patients were assessed with Positive and Negative Symptom Scale (PANSS. Results It was revealed that the expression levels of circRNA_102101, circRNA_102315, circRNA_104597, circRNA_101835 and circRNA_101836 were significantly down-regulated (P<0.01 or P<0.05, and circRNA_103102 and circRNA_103704 were up-regulated in SZ group (P<0.01. The ΔCT value of circRNA_102101 and circRNA_103102 was positively correlated to the positive symptoms (P<0.01 or P<0.05, and the ΔCT value of circRNA_103704 also showed positive correlation with positive symptoms and general psychopathological symptoms (P<0.01 or P<0.05. The ΔCT values of circRNA_102101, circRNA_103102, circRNA_102315, circRNA_103704 and circRNA_102802 were correlated with thinking disorder (P<0.01 or P<0.05, and the ΔCT values of circRNA_102101, circRNA_103102, circRNA_104597, circRNA_103704 and circRNA_102802 were correlated with the activation (P<0.01 or P<0.05. The ΔCT values of circRNA_102101, circRNA_103102, circRNA_103704 and circRNA_102802 were positively correlated with paranoid (P<0.01 or P<0.05, and of circRNA_102101, circRNA_103102, circRNA_103704 and circRNA_102802 were markedly correlated with assault (P<0.01 or P<0.05. Therefore, circRNA_103704 was chosen into regressive equation of positive symptoms (P<0.01, and circRNA_103704 and circRNA_102315 were chosen into regressive equation of general pathological findings (P<0.01 or P<0.05. Conclusion The expression levels of circRNA_103704 and circRNA_103102 are obviously up

Noise genetics: inferring protein function by correlating phenotype with protein levels and localization in individual human cells.

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Shlomit Farkash-Amar

2014-03-01

Full Text Available To understand gene function, genetic analysis uses large perturbations such as gene deletion, knockdown or over-expression. Large perturbations have drawbacks: they move the cell far from its normal working point, and can thus be masked by off-target effects or compensation by other genes. Here, we offer a complementary approach, called noise genetics. We use natural cell-cell variations in protein level and localization, and correlate them to the natural variations of the phenotype of the same cells. Observing these variations is made possible by recent advances in dynamic proteomics that allow measuring proteins over time in individual living cells. Using motility of human cancer cells as a model system, and time-lapse microscopy on 566 fluorescently tagged proteins, we found 74 candidate motility genes whose level or localization strongly correlate with motility in individual cells. We recovered 30 known motility genes, and validated several novel ones by mild knockdown experiments. Noise genetics can complement standard genetics for a variety of phenotypes.

Crystal Genetics, Inc.

Science.gov (United States)

Kermani, Bahram G

2016-07-01

Crystal Genetics, Inc. is an early-stage genetic test company, focused on achieving the highest possible clinical-grade accuracy and comprehensiveness for detecting germline (e.g., in hereditary cancer) and somatic (e.g., in early cancer detection) mutations. Crystal's mission is to significantly improve the health status of the population, by providing high accuracy, comprehensive, flexible and affordable genetic tests, primarily in cancer. Crystal's philosophy is that when it comes to detecting mutations that are strongly correlated with life-threatening diseases, the detection accuracy of every single mutation counts: a single false-positive error could cause severe anxiety for the patient. And, more importantly, a single false-negative error could potentially cost the patient's life. Crystal's objective is to eliminate both of these error types.

Estimating the actual subject-specific genetic correlations in behavior genetics.

Science.gov (United States)

Molenaar, Peter C M

2012-10-01

Generalization of the standard behavior longitudinal genetic factor model for the analysis of interindividual phenotypic variation to a genetic state space model for the analysis of intraindividual variation enables the possibility to estimate subject-specific heritabilities.

Efficient multiple-trait association and estimation of genetic correlation using the matrix-variate linear mixed model.

Science.gov (United States)

Furlotte, Nicholas A; Eskin, Eleazar

2015-05-01

Multiple-trait association mapping, in which multiple traits are used simultaneously in the identification of genetic variants affecting those traits, has recently attracted interest. One class of approaches for this problem builds on classical variance component methodology, utilizing a multitrait version of a linear mixed model. These approaches both increase power and provide insights into the genetic architecture of multiple traits. In particular, it is possible to estimate the genetic correlation, which is a measure of the portion of the total correlation between traits that is due to additive genetic effects. Unfortunately, the practical utility of these methods is limited since they are computationally intractable for large sample sizes. In this article, we introduce a reformulation of the multiple-trait association mapping approach by defining the matrix-variate linear mixed model. Our approach reduces the computational time necessary to perform maximum-likelihood inference in a multiple-trait model by utilizing a data transformation. By utilizing a well-studied human cohort, we show that our approach provides more than a 10-fold speedup, making multiple-trait association feasible in a large population cohort on the genome-wide scale. We take advantage of the efficiency of our approach to analyze gene expression data. By decomposing gene coexpression into a genetic and environmental component, we show that our method provides fundamental insights into the nature of coexpressed genes. An implementation of this method is available at http://genetics.cs.ucla.edu/mvLMM. Copyright © 2015 by the Genetics Society of America.

Eosinophil count is positively correlated with coronary artery calcification

International Nuclear Information System (INIS)

Tanaka, Muhei; Fukui, Michiaki; Yamasaki, Masahiro; Hasegawa, Goji; Oda, Yohei; Nakamura, Naoto; Tomiyasu, Ki-ichiro; Akabame, Satoshi; Nakano, Koji

2012-01-01

Recent studies suggested that allergic disorders and increased eosinophil count were associated with atherosclerosis. The purpose of this study was to assess the relationship between eosinophil count and coronary artery calcification (CAC). We performed a cross-sectional study in 1363 consecutive participants with clinical suspicion of coronary heart disease (CHD). We evaluated the relationships between CAC score determined by multislice CT and peripheral eosinophil count as well as major cardiovascular risk factors, including age, body mass index, smoking status, hypertension, dyslipidemia, diabetes mellitus (DM), high-sensitivity C-reactive protein and estimated glomerular filtration rate (eGFR). Sex (P=0.0004), hypertension (P=0.0002), dyslipidemia (P=0.0004) and DM (P=0.0061) were associated with log (CAC+1), respectively. Positive correlations were found between log (CAC+1), and age (r=0.325, P<0.0001) and eosinophil count (r=0.165, P<0.0001). Negative correlations were found between log (CAC+1) and eGFR (r=-0.166, P<0.0001). Multivariate linear regression analysis demonstrated that age (β=0.314, P<0.0001), sex (β=0.124, P<0.0001), hypertension (β=0.084, P=0.0008), DM (β=0.108, P<0.0001), eGFR (β=-0.079, P=0.0021) and eosinophil count (β=0.147, P<0.0001) were independent determinants of log (CAC+1). In conclusion, eosinophil count correlated positively with CAC in participants with clinical suspicion of CHD. (author)

Exotic species and genetically modified organisms in aquaculture and enhanced fisheries: ICLARM's position

OpenAIRE

Pullin, R.S.V.

1994-01-01

This article contains a discussion paper on the use of exotic species and genetically modified organisms in aquaculture and enhanced fisheries, together with a summary of ICLARM's (International Center for Living Aquatic Resources Management, Philippines) current position on this important topic.

Genetic correlations between behavioural responses and performance traits in laying hens

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Iwona Rozempolska-Rucińska

2017-12-01

Full Text Available Objective The aim of the study was to evaluate genetic correlations between the behavioural profile and performance in laying hens as an indirect answer to the question whether the observed behavioural responses are associated with increased levels of stress in these birds. Methods The assessment of birds’ temperament was carried out using the novel objects test. The behavioural test was conducted in two successive generations comprising 9,483 Rhode Island White (RIW birds (approx. 4,700 individuals per generation and 4,326 Rhode Island Red (RIR birds (approx. 2,100 individuals per generation. Based on the recorded responses, the birds were divided into two groups: a fearful profile (1,418 RIW hens and 580 RIR hens and a brave/curious profile (8,065 RIW hens and 3,746 RIR hens. The birds were subjected to standard assessment of their performance traits, including SM, age at sexual maturity; ST, shell thickness; SG, egg specific gravity; EW, mean egg weight; IP, initial egg production; and HC, number of hatched chicks. The pedigree was three generations deep (including two behaviour-recorded generations. Estimation of the (covariance components was performed with the Gibbs sampling method, which accounts for the discrete character of the behavioural profile denotation. Results The analyses revealed negative correlations between the performance traits of the laying hens and the behavioural profile defined as fearful. In the group of fearful RIW birds, delayed sexual maturation (0.22 as well as a decrease in the initial egg production (−0.30, egg weight (−0.54, egg specific gravity (−0.331, shell thickness (−0.11, and the number of hatched chicks (−0.24 could be expected. These correlations were less pronounced in the RIR breed, in which the fearful birds exhibited a decline in hatchability (−0.37, egg specific gravity (−0.11, and the number of hatched chicks (−0.18. There were no correlations in the case of the other traits or

Makeup of the genetic correlation between milk production traits using genome-wide single nucleotide polymorphism information.

Science.gov (United States)

van Binsbergen, R; Veerkamp, R F; Calus, M P L

2012-04-01

The correlated responses between traits may differ depending on the makeup of genetic covariances, and may differ from the predictions of polygenic covariances. Therefore, the objective of the present study was to investigate the makeup of the genetic covariances between the well-studied traits: milk yield, fat yield, protein yield, and their percentages in more detail. Phenotypic records of 1,737 heifers of research farms in 4 different countries were used after homogenizing and adjusting for management effects. All cows had a genotype for 37,590 single nucleotide polymorphisms (SNP). A bayesian stochastic search variable selection model was used to estimate the SNP effects for each trait. About 0.5 to 1.0% of the SNP had a significant effect on 1 or more traits; however, the SNP without a significant effect explained most of the genetic variances and covariances of the traits. Single nucleotide polymorphism correlations differed from the polygenic correlations, but only 10 regions were found with an effect on multiple traits; in 1 of these regions the DGAT1 gene was previously reported with an effect on multiple traits. This region explained up to 41% of the variances of 4 traits and explained a major part of the correlation between fat yield and fat percentage and contributes to asymmetry in correlated response between fat yield and fat percentage. Overall, for the traits in this study, the infinitesimal model is expected to be sufficient for the estimation of the variances and covariances. Copyright © 2012 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Heritability and genetic correlation between GERD symptoms severity, metabolic syndrome, and inflammation markers in families living in Mexico City

Science.gov (United States)

Reding-Bernal, Arturo; Sánchez-Pedraza, Valentin; Moreno-Macías, Hortensia; Sobrino-Cossio, Sergio; Tejero-Barrera, María Elizabeth; Burguete-García, Ana Isabel; León-Hernández, Mireya; Serratos-Canales, María Fabiola; Duggirala, Ravindranath; López-Alvarenga, Juan Carlos

2017-01-01

Objective The aim of this study was to estimate the heritability (h2) and genetic correlation (ρG) between GERD symptoms severity, metabolic syndrome components, and inflammation markers in Mexican families. Methods Cross-sectional study which included 32 extended families resident in Mexico City. GERD symptoms severity was assessed by the ReQuest in Practice questionnaire. Heritability and genetic correlation were determined using the Sequential Oligogenic Linkage Analysis Routines software. Results 585 subjects were included, the mean age was 42 (±16.7) years, 57% were women. The heritability of the severity of some GERD symptoms was h2 = 0.27, 0.27, 0.37, and 0.34 (p-value metabolic syndrome components ranged from 0.40 for fasting plasma glucose to 0.61 for body mass index and diabetes mellitus. The heritability for fibrinogen and C-reactive protein was 0.64 and 0.38, respectively. Statistically significant genetic correlations were found between acidity complaints and fasting plasma glucose (ρG = 0.40); sleep disturbances and fasting plasma glucose (ρG = 0.36); acidity complaints and diabetes mellitus (ρG = 0.49) and between total ReQuest score and fasting plasma glucose (ρG = 0.43). The rest of metabolic syndrome components did not correlate with GERD symptoms. Conclusion Genetic factors substantially explain the phenotypic variance of the severity of some GERD symptoms, metabolic syndrome components and inflammation markers. Observed genetic correlations suggest that these phenotypes share common genes. These findings suggest conducting further investigation, as the determination of a linkage analysis in order to identify regions of susceptibility for developing of GERD and metabolic syndrome. PMID:28582452

Indoor high precision three-dimensional positioning system based on visible light communication using modified genetic algorithm

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Chen, Hao; Guan, Weipeng; Li, Simin; Wu, Yuxiang

2018-04-01

To improve the precision of indoor positioning and actualize three-dimensional positioning, a reversed indoor positioning system based on visible light communication (VLC) using genetic algorithm (GA) is proposed. In order to solve the problem of interference between signal sources, CDMA modulation is used. Each light-emitting diode (LED) in the system broadcasts a unique identity (ID) code using CDMA modulation. Receiver receives mixed signal from every LED reference point, by the orthogonality of spreading code in CDMA modulation, ID information and intensity attenuation information from every LED can be obtained. According to positioning principle of received signal strength (RSS), the coordinate of the receiver can be determined. Due to system noise and imperfection of device utilized in the system, distance between receiver and transmitters will deviate from the real value resulting in positioning error. By introducing error correction factors to global parallel search of genetic algorithm, coordinates of the receiver in three-dimensional space can be determined precisely. Both simulation results and experimental results show that in practical application scenarios, the proposed positioning system can realize high precision positioning service.

Smoking and caffeine consumption: a genetic analysis of their association.

Science.gov (United States)

Treur, Jorien L; Taylor, Amy E; Ware, Jennifer J; Nivard, Michel G; Neale, Michael C; McMahon, George; Hottenga, Jouke-Jan; Baselmans, Bart M L; Boomsma, Dorret I; Munafò, Marcus R; Vink, Jacqueline M

2017-07-01

Smoking and caffeine consumption show a strong positive correlation, but the mechanism underlying this association is unclear. Explanations include shared genetic/environmental factors or causal effects. This study employed three methods to investigate the association between smoking and caffeine. First, bivariate genetic models were applied to data of 10 368 twins from the Netherlands Twin Register in order to estimate genetic and environmental correlations between smoking and caffeine use. Second, from the summary statistics of meta-analyses of genome-wide association studies on smoking and caffeine, the genetic correlation was calculated by LD-score regression. Third, causal effects were tested using Mendelian randomization analysis in 6605 Netherlands Twin Register participants and 5714 women from the Avon Longitudinal Study of Parents and Children. Through twin modelling, a genetic correlation of r0.47 and an environmental correlation of r0.30 were estimated between current smoking (yes/no) and coffee use (high/low). Between current smoking and total caffeine use, this was r0.44 and r0.00, respectively. LD-score regression also indicated sizeable genetic correlations between smoking and coffee use (r0.44 between smoking heaviness and cups of coffee per day, r0.28 between smoking initiation and coffee use and r0.25 between smoking persistence and coffee use). Consistent with the relatively high genetic correlations and lower environmental correlations, Mendelian randomization provided no evidence for causal effects of smoking on caffeine or vice versa. Genetic factors thus explain most of the association between smoking and caffeine consumption. These findings suggest that quitting smoking may be more difficult for heavy caffeine consumers, given their genetic susceptibility. © 2016 The Authors.Addiction Biology published by John Wiley & Sons Ltd on behalf of Society for the Study of Addiction.

Genetic parameters and genetic and phenotypic trends of performance traits of equines from the Brazilian Army

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Mariana de Almeida Dornelles

2012-06-01

Full Text Available The objective of this research was to compare the magnitude of genetic parameters (coefficients of heritability and genetic correlation as estimated by the Restricted Maximum Likelihood (REML method and Bayesian Inference, and to estimate the genetic and phenotypic trends to the traits height at the withers (HW24 and weight at 24 months of age (W24. The average heritability estimated by Bayesian Inference to HW24 was 0.47, and it was lower than that obtained by REML bi-trait analysis (0.52; however, the value estimated to W24 (0.39 was higher than that obtained by REML bi-trait analysis (0.38. The genetic correlation estimate between W24 and HW24 traits obtained by the REML method (0.66 was lower than that obtained by the Bayesian Inference Method (0.72. From the regression of the average additive genetic merit in the year of birth of the animals, it was found that the averaged genetic values of the animals for HW24 showed a genetic trend near zero (-0.0008cm/year, and the averaged genetic values for W24 showed a negative trend of -0.38 kg/year. The values to the direct heritability estimated for HW24 and W24 suggest that the direct selection for these traits can provide genetic gain in this population. The genetic correlation between the traits, high and positive, suggests that the selection for HW24 should promote increase in W24 at this age. The genetic trends obtained for the traits studied, near zero, indicate that the selection performed produced a slight reduction of the weight of the animals at 24 months of age; however, it did not promote increase in height at the wither at this same age, in this population.

Estimates of genetic parameters, genetic trends, and inbreeding in a crossbred dairy sheep research flock in the United States.

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Murphy, T W; Berger, Y M; Holman, P W; Baldin, M; Burgett, R L; Thomas, D L

2017-10-01

For the past 2 decades, the Spooner Agriculture Research Station (ARS) of the University of Wisconsin-Madison operated the only dairy sheep research flock in North America. The objectives of the present study were to 1) obtain estimates of genetic parameters for lactation and reproductive traits in dairy ewes, 2) estimate the amount of genetic change in these traits over time, and 3) quantify the level of inbreeding in this flock over the last 20 yr. Multiple-trait repeatability models (MTRM) were used to analyze ewe traits through their first 6 parities. The first MTRM jointly analyzed milk (180-d-adjusted milk yield [180d MY]), fat (180-d-adjusted fat yield [180d FY]), and protein (180-d-adjusted protein yield [180d PY]) yields adjusted to 180 d of lactation; number of lambs born per ewe lambing (NLB); and lactation average test-day somatic cell score (LSCS). A second MTRM analyzed 180d MY, NLB, LSCS, and percentage milk fat (%F) and percentage milk protein (%P). The 3 yield traits were moderately heritable (0.26 to 0.32) and strongly genetically correlated (0.91 to 0.96). Percentage milk fat and %P were highly heritable (0.53 and 0.61, respectively) and moderately genetically correlated (0.61). Milk yield adjusted to 180 d was negatively genetically correlated with %F and %P (-0.31 and -0.34, respectively). Ewe prolificacy was not significantly ( > 0.67) genetically correlated with yield traits, %P, or LSCS but lowly negatively correlated with %F (-0.26). Lactation somatic cell score was unfavorably genetically correlated with yield traits (0.28 to 0.39) but not significantly ( > 0.09) correlated with %F, %P, and NLB. Within-trait multiple-trait models through the first 4 parities revealed that 180d MY, 180d FY, 180d PY, %F, and %P were strongly genetically correlated across parity (0.67 to 1.00). However, the genetic correlations across parity for NLB and LSCS were somewhat lower (0.51 to 0.96). Regressing predicted breeding values for 180d MY, without and with

Positive aspects of caregiving and its correlates in caregivers of schizophrenia: a study from north India.

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Kate, N; Grover, S; Kulhara, P; Nehra, R

2013-06-01

OBJECTIVE. To study the positive aspects of caregiving and its correlates in primary caregivers of patients with schizophrenia. METHODS. A total of 100 patients with schizophrenia and their primary caregivers were evaluated. Regarding the caregivers, their positive aspects of caregiving were assessed on the Scale for Positive Aspects of Caregiving Experience (SPACE). To examine the correlates of positive aspects of caregiving, they were also assessed on the Family Burden Interview (FBI) Schedule, the Involvement Evaluation Questionnaire (IEQ), coping checklist, the Social Support Questionnaire, the World Health Organization Quality of Life-BREF (Hindi version), the WHO Quality of Life-Spirituality, Religiousness and Personal Beliefs Scale, as well as the General Health Questionnaire-12. The patients were assessed on the Positive and Negative Syndrome Scale (PANSS) and the Global Assessment of Functioning Scale. RESULTS. On the SPACE, the highest mean score was seen in the domain of motivation for the caregiving role (2.7), followed by that of caregiver satisfaction (2.4) and caregiver gains (2.3). The mean score was least for the domain of self-esteem and social aspect of caring (1.9). The SPACE domain of caregiver satisfaction correlated negatively with many aspects of burden as assessed by FBI Schedule and coping as assessed by the coping checklist; whereas the self-esteem and social aspect of caring domain correlated positively with worrying-urging II domain and the total IEQ score. No significant correlations between the SPACE and socio-demographics as well as most of the clinical variables were noted. Motivation for the caregiving had a positive correlation with the PANSS negative symptom scale. Multiple correlations were found between the SPACE and quality of life, suggesting that higher positive caregiving experience was associated with better quality of life in caregivers. CONCLUSION. Caregivers of patients with schizophrenia do enjoy positive aspects of

Correlation and heritability Analysis in the genetic improvement of camu-camu

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Mario Pinedo Panduro

2012-03-01

Full Text Available In Peru and Brazil have been made between 2002 and 2011, correlation and heritability in search of tools for genetic improvement of camu-camu. We studied basic collections, comparative and progeny clones exist in the INIA, IIAP and INPA. The length of petiole (LP, has a half heritability (in the broad sense of h2 g = 0.42 and correlation coefficients of r2 = 0.37 with fruit yield and r2 = 0.54 with fruit weight. Basal branch number (NRB also shows levels of heritability average (in the strict sense: h2 a = 0.45 and h2 g = 0.33 in the broad sense. NRB in turn significantly correlated with fruit yield (RF (r2 = 0.43, fruit weight (FW (r2 = 0.38 and ascorbic acid (AA (r2 =- 0.30. The values of pH and soluble solids (degrees Brix of the pulp showed a high correlation with AA (r2 = 0.85 and r2 = 0.94 respectively. In light of the information correlation and heritability, we emphasize that the parameters "number of basal branches", "petiole length" and "fruit weight" and present a relatively high correlation with "yield fruit" also have a level intermediate heritability, which qualify them as important tools for the selection of superior plants camu-camu

Transcriptome profile and unique genetic evolution of positively selected genes in yak lungs.

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Lan, DaoLiang; Xiong, XianRong; Ji, WenHui; Li, Jian; Mipam, Tserang-Donko; Ai, Yi; Chai, ZhiXin

2018-04-01

The yak (Bos grunniens), which is a unique bovine breed that is distributed mainly in the Qinghai-Tibetan Plateau, is considered a good model for studying plateau adaptability in mammals. The lungs are important functional organs that enable animals to adapt to their external environment. However, the genetic mechanism underlying the adaptability of yak lungs to harsh plateau environments remains unknown. To explore the unique evolutionary process and genetic mechanism of yak adaptation to plateau environments, we performed transcriptome sequencing of yak and cattle (Bos taurus) lungs using RNA-Seq technology and a subsequent comparison analysis to identify the positively selected genes in the yak. After deep sequencing, a normal transcriptome profile of yak lung that containing a total of 16,815 expressed genes was obtained, and the characteristics of yak lungs transcriptome was described by functional analysis. Furthermore, Ka/Ks comparison statistics result showed that 39 strong positively selected genes are identified from yak lungs. Further GO and KEGG analysis was conducted for the functional annotation of these genes. The results of this study provide valuable data for further explorations of the unique evolutionary process of high-altitude hypoxia adaptation in yaks in the Tibetan Plateau and the genetic mechanism at the molecular level.

Tryptase-positive mast cells correlate with angiogenesis in early breast cancer patients.

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Ranieri, Girolamo; Ammendola, Michele; Patruno, Rosa; Celano, Giuseppe; Zito, Francesco Alfredo; Montemurro, Severino; Rella, Addolorata; Di Lecce, Valentina; Gadaleta, Cosmo Damiano; Battista De Sarro, Giovanni; Ribatti, Domenico

2009-07-01

Literature data indicate that mast cells (MCs) are involved in tumor angiogenesis due to the release of several pro-angiogenetic factors among which tryptase, a serine protease stored in MCs granules, is one of the most active. However, no data are available concerning the role of MCs in angiogenesis in primary human breast cancer. In this study, we have evaluated the correlations between the number of MCs positive to tryptase (MCDPT), the area occupied by MCs positive to tryptase (MCAPT) and microvascular density (MVD) and endothelial area (EA) in a series of 88 primary T1-3, N0-2 M0 female breast cancer, by means of immunohistochemistry and image analysis methods. Data demonstrated a significant (r = from 0.78 to 0.89; p-value from 0.001 to 0.002 by Pearson's analysis respectively) correlation between MCDPT, MCAPT, MVD, EA to each other. No correlation concerning MCDPT, MCAPT, MVD, EA and the main clinicopathological features was found. Our results suggest that tryptase-positive MCs play a role in breast cancer angiogenesis. In this context several tryptase inhibitors such as gabexate mesilate and nafamostat mesilate might be evaluated in clinical trials as a new anti-angiogenetic approach.

Longitudinal analyses of correlated response efficiencies of fillet traits in Nile tilapia.

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Turra, E M; Fernandes, A F A; de Alvarenga, E R; Teixeira, E A; Alves, G F O; Manduca, L G; Murphy, T W; Silva, M A

2018-03-01

Recent studies with Nile tilapia have shown divergent results regarding the possibility of selecting on morphometric measurements to promote indirect genetic gains in fillet yield (FY). The use of indirect selection for fillet traits is important as these traits are only measurable after harvesting. Random regression models are a powerful tool in association studies to identify the best time point to measure and select animals. Random regression models can also be applied in a multiple trait approach to analyze indirect response to selection, which would avoid the need to sacrifice candidate fish. Therefore, the aim of this study was to investigate the genetic relationships between several body measurements, weight and fillet traits throughout the growth period and to evaluate the possibility of indirect selection for fillet traits in Nile tilapia. Data were collected from 2042 fish and was divided into two subsets. The first subset was used to estimate genetic parameters, including the permanent environmental effect for BW and body measurements (8758 records for each body measurement, as each fish was individually weighed and measured a maximum of six times). The second subset (2042 records for each trait) was used to estimate genetic correlations and heritabilities, which enabled the calculation of correlated response efficiencies between body measurements and the fillet traits. Heritability estimates across ages ranged from 0.05 to 0.5 for height, 0.02 to 0.48 for corrected length (CL), 0.05 to 0.68 for width, 0.08 to 0.57 for fillet weight (FW) and 0.12 to 0.42 for FY. All genetic correlation estimates between body measurements and FW were positive and strong (0.64 to 0.98). The estimates of genetic correlation between body measurements and FY were positive (except for CL at some ages), but weak to moderate (-0.08 to 0.68). These estimates resulted in strong and favorable correlated response efficiencies for FW and positive, but moderate for FY. These results

Multiple-trait estimates of genetic parameters for metabolic disease traits, fertility disorders, and their predictors in Canadian Holsteins.

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Jamrozik, J; Koeck, A; Kistemaker, G J; Miglior, F

2016-03-01

Producer-recorded health data for metabolic disease traits and fertility disorders on 35,575 Canadian Holstein cows were jointly analyzed with selected indicator traits. Metabolic diseases included clinical ketosis (KET) and displaced abomasum (DA); fertility disorders were metritis (MET) and retained placenta (RP); and disease indicators were fat-to-protein ratio, milk β-hydroxybutyrate, and body condition score (BCS) in the first lactation. Traits in first and later (up to fifth) lactations were treated as correlated in the multiple-trait (13 traits in total) animal linear model. Bayesian methods with Gibbs sampling were implemented for the analysis. Estimates of heritability for disease incidence were low, up to 0.06 for DA in first lactation. Among disease traits, the environmental herd-year variance constituted 4% of the total variance for KET and less for other traits. First- and later-lactation disease traits were genetically correlated (from 0.66 to 0.72) across all traits, indicating different genetic backgrounds for first and later lactations. Genetic correlations between KET and DA were relatively strong and positive (up to 0.79) in both first- and later-lactation cows. Genetic correlations between fertility disorders were slightly lower. Metritis was strongly genetically correlated with both metabolic disease traits in the first lactation only. All other genetic correlations between metabolic and fertility diseases were statistically nonsignificant. First-lactation KET and MET were strongly positively correlated with later-lactation performance for these traits due to the environmental herd-year effect. Indicator traits were moderately genetically correlated (from 0.30 to 0.63 in absolute values) with both metabolic disease traits in the first lactation. Smaller and mostly nonsignificant genetic correlations were among indicators and metabolic diseases in later lactations. The only significant genetic correlations between indicators and fertility

Ethics of genetic testing and research in sport: a position statement from the Australian Institute of Sport

OpenAIRE

Vlahovich, Nicole; Fricker, Peter A; Brown, Matthew A; Hughes, David

2016-01-01

As Australia's peak high-performance sport agency, the Australian Institute of Sport (AIS) has developed this position statement to address the implications of recent advances in the field of genetics and the ramifications for the health and well-being of athletes. Genetic testing has proven of value in the practice of clinical medicine. There are, however, currently no scientific grounds for the use of genetic testing for athletic performance improvement, sport selection or talent identifica...

Mitochondrial respiratory efficiency is positively correlated with human sperm motility.

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Ferramosca, Alessandra; Provenzano, Sara Pinto; Coppola, Lamberto; Zara, Vincenzo

2012-04-01

To correlate sperm mitochondrial respiratory efficiency with variations in sperm motility and with sperm morphologic anomalies. Sperm mitochondrial respiratory activity was evaluated with a polarographic assay of oxygen consumption carried out in hypotonically-treated sperm cells. A possible relationship among sperm mitochondrial respiratory efficiency, sperm motility, and morphologic anomalies was investigated. Mitochondrial respiratory efficiency was positively correlated with sperm motility and negatively correlated with the percentage of immotile spermatozoa. Moreover, midpiece defects impaired mitochondrial functionality. Our data indicate that an increase in sperm motility requires a parallel increase in mitochondrial respiratory capacity, thereby supporting the fundamental role played by mitochondrial oxidative phosphorylation in sperm motility of normozoospermic subjects. These results are of physiopathological relevance because they suggest that disturbances of sperm mitochondrial function and of energy production could be responsible for asthenozoospermia. Copyright © 2012 Elsevier Inc. All rights reserved.

Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa

NARCIS (Netherlands)

Duncan, Laramie; Yilmaz, Zeynep; Gaspar, Helena; Walters, Raymond K.; Goldstein, Jackie; Anttila, Verneri; Bulik-Sullivan, Brendan; Ripke, Stephan; Thornton, Laura M.; Hinney, Anke; Daly, Mark J.; Sullivan, Patrick F; Zeggini, Eleftheria; Breen, Gerome; Bulik, Cynthia M.; Adan, RAH

2017-01-01

Objective: The authors conducted a genome-wide association study of anorexia nervosa and calculated genetic correlations with a series of psychiatric, educational, and metabolic phenotypes. Method: Following uniformquality control and imputation procedures using the 1000 Genomes Project (phase 3) in

Significant locus and metabolic genetic correlations revealed in genome-wide association study of anorexia nervosa

NARCIS (Netherlands)

Duncan, Laramie; Yilmaz, Zeynep; Gaspar, Helena; Walters, Raymond; Goldstein, Jackie; Anttila, Verneri; Bulik-Sullivan, Brendan; Ripke, Stephan; Thornton, Laura; Hinney, Anke; Daly, Mark; Sullivan, Patrick F; Zeggini, Eleftheria; Breen, Gerome; Bulik, Cynthia M; Kas, Martinus J.H.

2017-01-01

OBJECTIVE: The authors conducted a genome-wide association study of anorexia nervosa and calculated genetic correlations with a series of psychiatric, educational, and metabolic phenotypes. METHOD: Following uniform quality control and imputation procedures using the 1000 Genomes Project (phase 3)

Vantage Sensitivity: Environmental Sensitivity to Positive Experiences as a Function of Genetic Differences.

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Pluess, Michael

2017-02-01

A large number of gene-environment interaction studies provide evidence that some people are more likely to be negatively affected by adverse experiences as a function of specific genetic variants. However, such "risk" variants are surprisingly frequent in the population. Evolutionary analysis suggests that genetic variants associated with increased risk for maladaptive development under adverse environmental conditions are maintained in the population because they are also associated with advantages in response to different contextual conditions. These advantages may include (a) coexisting genetic resilience pertaining to other adverse influences, (b) a general genetic susceptibility to both low and high environmental quality, and (c) a coexisting propensity to benefit disproportionately from positive and supportive exposures, as reflected in the recent framework of vantage sensitivity. After introducing the basic properties of vantage sensitivity and highlighting conceptual similarities and differences with diathesis-stress and differential susceptibility patterns of gene-environment interaction, selected and recent empirical evidence for the notion of vantage sensitivity as a function of genetic differences is reviewed. The unique contribution that the new perspective of vantage sensitivity may make to our understanding of social inequality will be discussed after suggesting neurocognitive and molecular mechanisms hypothesized to underlie the propensity to benefit disproportionately from benevolent experiences. © 2015 Wiley Periodicals, Inc.

Absolute GPS Positioning Using Genetic Algorithms

Science.gov (United States)

Ramillien, G.

A new inverse approach for restoring the absolute coordinates of a ground -based station from three or four observed GPS pseudo-ranges is proposed. This stochastic method is based on simulations of natural evolution named genetic algorithms (GA). These iterative procedures provide fairly good and robust estimates of the absolute positions in the Earth's geocentric reference system. For comparison/validation, GA results are compared to the ones obtained using the classical linearized least-square scheme for the determination of the XYZ location proposed by Bancroft (1985) which is strongly limited by the number of available observations (i.e. here, the number of input pseudo-ranges must be four). The r.m.s. accuracy of the non -linear cost function reached by this latter method is typically ~10-4 m2 corresponding to ~300-500-m accuracies for each geocentric coordinate. However, GA can provide more acceptable solutions (r.m.s. errors < 10-5 m2), even when only three instantaneous pseudo-ranges are used, such as a lost of lock during a GPS survey. Tuned GA parameters used in different simulations are N=1000 starting individuals, as well as Pc=60-70% and Pm=30-40% for the crossover probability and mutation rate, respectively. Statistical tests on the ability of GA to recover acceptable coordinates in presence of important levels of noise are made simulating nearly 3000 random samples of erroneous pseudo-ranges. Here, two main sources of measurement errors are considered in the inversion: (1) typical satellite-clock errors and/or 300-metre variance atmospheric delays, and (2) Geometrical Dilution of Precision (GDOP) due to the particular GPS satellite configuration at the time of acquisition. Extracting valuable information and even from low-quality starting range observations, GA offer an interesting alternative for high -precision GPS positioning.

[Longitudinal genetic effects on mandibular position of female twins from six to twelve years old].

Science.gov (United States)

Zhu, Chang-feng; Peng, Jing

2013-06-01

To find the longitudinal genetic effects on mandibular position in mixed dentition. The sample used in this study consisted of lateral cephalograms of eighty-nine pairs of female twins in Beijing. With a mixed longitudinal method, the effective twins were 183 pairs(monozygous 110 pairs and dizygous 73 ones). The genetic and environmental effects on mandibular position were analyzed by statistical methods in female twins from six to twelve years old. Statistical comparisons revealed significant (Pchin is the most subjective to environment change, then the mandibular angle, and the condyle is the least. Using N and S as references, the environmental influence on heights showed different order from the most to least changeable: The mandibular angle, the condyle and the chin. In later stage of our observation, the mandibular morphology and growth type might be family inherited. For environmental influences plays important roles on mandibular position, these findings can be used in orthodontic treatment planning.

Cross-sex genetic correlation does not extend to sexual size dimorphism in spiders

Science.gov (United States)

Turk, Eva; Kuntner, Matjaž; Kralj-Fišer, Simona

2018-02-01

Males and females are often subjected to different selection pressures for homologous traits, resulting in sex-specific optima. Because organismal attributes usually share their genetic architectures, sex-specific selection may lead to intralocus sexual conflict. Evolution of sexual dimorphism may resolve this conflict, depending on the degree of cross-sex genetic correlation ( r MF) and the strength of sex-specific selection. In theory, high r MF implies that sexes largely share the genetic base for a given trait and are consequently sexually monomorphic, while low r MF indicates a sex-specific genetic base and sexual dimorphism. Here, we broadly test this hypothesis on three spider species with varying degrees of female-biased sexual size dimorphism, Larinioides sclopetarius (sexual dimorphism index, SDI = 0.85), Nuctenea umbratica (SDI = 0.60), and Zygiella x-notata (SDI = 0.46). We assess r MF via same-sex and opposite-sex heritability estimates. We find moderate body mass heritability but no obvious patterns in sex-specific heritability. Against the prediction, the degree of sexual size dimorphism is unrelated to the relative strength of same-sex versus opposite-sex heritability. Our results do not support the hypothesis that sexual size dimorphism is negatively associated with r MF. We conclude that sex-specific genetic architecture may not be necessary for the evolution of a sexually dimorphic trait.

A systematic review of the neural correlates of positive emotions

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Leonardo Machado

Full Text Available Objective: To conduct a systematic literature review of human studies reporting neural correlates of positive emotions. Methods: The PubMed and Web of Science databases were searched in January 2016 for scientific papers written in English. No restrictions were placed on year of publication. Results: Twenty-two articles were identified and 12 met the established criteria. Five had been published during the last 4 years. Formation and regulation of positive emotions, including happiness, are associated with significant reductions in activity in the right prefrontal cortex and bilaterally in the temporoparietal cortex, as well as with increased activity in the left prefrontal regions. They are also associated with increased activity in the cingulate gyrus, inferior and middle temporal gyri, amygdalae, and ventral striatum. Conclusion: It is too early to claim that there is an established understanding of the neuroscience of positive emotions and happiness. However, despite overlap in the brain regions involved in the formation and regulation of positive and negative emotions, we can conclude that positive emotions such as happiness activate specific brain regions.

Genetic parameters for uniformity of harvest weight and body size traits in the GIFT strain of Nile tilapia.

Science.gov (United States)

Marjanovic, Jovana; Mulder, Han A; Khaw, Hooi L; Bijma, Piter

2016-06-10

Animal breeding programs have been very successful in improving the mean levels of traits through selection. However, in recent decades, reducing the variability of trait levels between individuals has become a highly desirable objective. Reaching this objective through genetic selection requires that there is genetic variation in the variability of trait levels, a phenomenon known as genetic heterogeneity of environmental (residual) variance. The aim of our study was to investigate the potential for genetic improvement of uniformity of harvest weight and body size traits (length, depth, and width) in the genetically improved farmed tilapia (GIFT) strain. In order to quantify the genetic variation in uniformity of traits and estimate the genetic correlations between level and variance of the traits, double hierarchical generalized linear models were applied to individual trait values. Our results showed substantial genetic variation in uniformity of all analyzed traits, with genetic coefficients of variation for residual variance ranging from 39 to 58 %. Genetic correlation between trait level and variance was strongly positive for harvest weight (0.60 ± 0.09), moderate and positive for body depth (0.37 ± 0.13), but not significantly different from 0 for body length and width. Our results on the genetic variation in uniformity of harvest weight and body size traits show good prospects for the genetic improvement of uniformity in the GIFT strain. A high and positive genetic correlation was estimated between level and variance of harvest weight, which suggests that selection for heavier fish will also result in more variation in harvest weight. Simultaneous improvement of harvest weight and its uniformity will thus require index selection.

Estimating genetic covariance functions assuming a parametric correlation structure for environmental effects

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Meyer Karin

2001-11-01

Full Text Available Abstract A random regression model for the analysis of "repeated" records in animal breeding is described which combines a random regression approach for additive genetic and other random effects with the assumption of a parametric correlation structure for within animal covariances. Both stationary and non-stationary correlation models involving a small number of parameters are considered. Heterogeneity in within animal variances is modelled through polynomial variance functions. Estimation of parameters describing the dispersion structure of such model by restricted maximum likelihood via an "average information" algorithm is outlined. An application to mature weight records of beef cow is given, and results are contrasted to those from analyses fitting sets of random regression coefficients for permanent environmental effects.

Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

DEFF Research Database (Denmark)

Posthuma, Daniëlle; Baare, Wim F.C.; Hulshoff Pol, Hilleke E.

2003-01-01

We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization......, Processing Speed) are also related to gray and white matter volume, and whether any of the dimensions are related to cerebellar volume. Two overlapping samples provided 135 subjects from 60 extended twin families for whom both MRI scans and WAIS III data were available. All three brain volumes are related...... to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related...

Insight into the genetic components of community genetics: QTL mapping of insect association in a fast-growing forest tree.

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Jennifer DeWoody

Full Text Available Identifying genetic sequences underlying insect associations on forest trees will improve the understanding of community genetics on a broad scale. We tested for genomic regions associated with insects in hybrid poplar using quantitative trait loci (QTL analyses conducted on data from a common garden experiment. The F2 offspring of a hybrid poplar (Populus trichocarpa x P. deltoides cross were assessed for seven categories of insect leaf damage at two time points, June and August. Positive and negative correlations were detected among damage categories and between sampling times. For example, sap suckers on leaves in June were positively correlated with sap suckers on leaves (P<0.001 but negatively correlated with skeletonizer damage (P<0.01 in August. The seven forms of leaf damage were used as a proxy for seven functional groups of insect species. Significant variation in insect association occurred among the hybrid offspring, including transgressive segregation of susceptibility to damage. NMDS analyses revealed significant variation and modest broad-sense heritability in insect community structure among genets. QTL analyses identified 14 genomic regions across 9 linkage groups that correlated with insect association. We used three genomics tools to test for putative mechanisms underlying the QTL. First, shikimate-phenylpropanoid pathway genes co-located to 9 of the 13 QTL tested, consistent with the role of phenolic glycosides as defensive compounds. Second, two insect association QTL corresponded to genomic hotspots for leaf trait QTL as identified in previous studies, indicating that, in addition to biochemical attributes, leaf morphology may influence insect preference. Third, network analyses identified categories of gene models over-represented in QTL for certain damage types, providing direction for future functional studies. These results provide insight into the genetic components involved in insect community structure in a fast

Timing the tides: genetic control of diurnal and lunar emergence times is correlated in the marine midge Clunio marinus.

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Kaiser, Tobias S; Neumann, Dietrich; Heckel, David G

2011-05-20

The intertidal zone of seacoasts, being affected by the superimposed tidal, diurnal and lunar cycles, is temporally the most complex environment on earth. Many marine organisms exhibit lunar rhythms in reproductive behaviour and some show experimental evidence of endogenous control by a circalunar clock, the molecular and genetic basis of which is unexplored. We examined the genetic control of lunar and diurnal rhythmicity in the marine midge Clunio marinus (Chironomidae, Diptera), a species for which the correct timing of adult emergence is critical in natural populations. We crossed two strains of Clunio marinus that differ in the timing of the diurnal and lunar rhythms of emergence. The phenotype distribution of the segregating backcross progeny indicates polygenic control of the lunar emergence rhythm. Diurnal timing of emergence is also under genetic control, and is influenced by two unlinked genes with major effects. Furthermore, the lunar and diurnal timing of emergence is correlated in the backcross generation. We show that both the lunar emergence time and its correlation to the diurnal emergence time are adaptive for the species in its natural environment. The correlation implies that the unlinked genes affecting lunar timing and the two unlinked genes affecting diurnal timing could be the same, providing an unexpectedly close interaction of the two clocks. Alternatively, the genes could be genetically linked in a two-by-two fashion, suggesting that evolution has shaped the genetic architecture to stabilize adaptive combinations of lunar and diurnal emergence times by tightening linkage. Our results, the first on genetic control of lunar rhythms, offer a new perspective to explore their molecular clockwork.

Genetic parameter estimates for weaning weight and Kleiber ratio in goats

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China Supakorn

2012-04-01

Full Text Available The research was conducted to evaluate the factors affecting on weaning weight (WW and Kleiber ratio (KR and toestimate genetic parameters for two traits in goats. The fixed factors affecting both traits indicated that year-season of birth,sex, birth type and regression of the Thai Native (TN, Boer (BO and Saanen (SA influenced on WW and KR (P<0.05. Malesin this population were heavier (P<0.05 than females. Weaning weights and KR of single kid were significantly higher (P<0.05 than other birth rearing types. Bivariate analysis of three models (Model 1: without maternal genetic effect, Model 2:with maternal genetic effect and am = 0, and Model 3: with maternal genetic effect and am  0 were used to estimate geneticparameters for this research. Estimated direct heritabilities from all models were 0.26 to 0.38 for WW, and 0.22 to 0.35 for KR.Estimated maternal heritabilities from Model 2 and 3 were 0.09 and 0.12 for WW and 0.08 and 0.11 for KR, respectively. Thedirect genetic and phenotypic correlations between WW and KR were positive and moderate values. Maternal genetic correlationsbetween them were positive and of low values. An antagonistic direct-maternal correlations from Model 3 withintraits and between traits indicated that offspring of does with superior maternal abilities probably may provide an inferiordirect genetic effect in the same trait and between traits. It was therefore possible to rapidly improve WW and KR in thisgoat population through selection, while the adverse effects of direct-maternal correlation within and between traits shouldbe considered. The best fit model would be a model including maternal genetic effect without a direct-maternal genetic covariance.

Genetic and environmental correlates of topiramate-induced cognitive impairment

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Cirulli, Elizabeth T.; Urban, Thomas J.; Marino, Susan E.; Linney, Kristen N.; Birnbaum, Angela K.; Depondt, Chantal; Attix, Deborah K.; Radtke, Rodney A.; Goldstein, David B.

2011-01-01

Topiramate is an antiepileptic drug that has marked, treatment-limiting side effects on specific aspects of cognitive performance in both patients and healthy volunteers. As these severe side-effects occur only in certain individuals, identifying genetic or environmental variables that influence cognitive response would be of great utility in determining whether to administer this drug to a patient. We gave an acute 100 mg oral dose of topiramate to 158 healthy volunteers and measured how the drug changed their performance on a diverse battery of cognitive tests. We found a wide range of responses to topiramate and demonstrated that not all tests in the battery were equally affected. There was no correlation between the effect of topiramate and either education level or baseline cognitive performance. Interestingly, there was up to 55-fold variation in the topiramate plasma levels of the participants. Our genome-wide association study (GWAS) of cognitive response did not reveal any genome-wide significant associations; the study was powered to find variants explaining at least 25% of the variation in cognitive response. Combining the results of this GWAS with a retrospective study of cognitive complaints in 290 epilepsy patients who received topiramate as part of their treatment also did not result in a significant association. Our results support the need for additional genetic studies of topiramate that utilize larger sample sizes. PMID:22091778

The relationships between chemical and genetic differentiation and environmental factors across the distribution of Erigeron breviscapus (Asteraceae).

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Li, Xiang; Peng, Li-yan; Zhang, Shu-dong; Zhao, Qin-shi; Yi, Ting-shuang

2013-01-01

Erigeron breviscapus (Vant.) Hand.-Mazz. is an important, widely used Chinese herb with scutellarin, 1,5-dicaffeoylquinic acid, 3,5-dicaffeoylquinic acid and erigoster B being its major active compounds. We aimed to resolve the influence of biotic and abiotic factors on the concentrations of these compounds and to determine appropriate cultivation methods to improve the yields of the four compounds in this herb. In order to detect the major genetic and natural environmental factors affecting the yields of these four compounds, we applied AFLP markers to investigate the population genetic differentiation and HPLC to measure the concentrations of four major active compounds among 23 wild populations which were located across almost the entire distribution of this species in China. The meteorological data including annual average temperature, annual average precipitation and annual average hours of sunshine were collected. The relationships among the concentrations of four compounds and environmental factors and genetic differentiation were studied. Low intraspecific genetic differentiation is detected, and there is no obvious correlation between the genetic differentiation and the contents of the chemical compounds. We investigated the correlation between the concentrationsof four compounds (scutellarin, 1,5-dicaffeoylquinic acid, 3,5-dicaffeoylquinic acid and erigoster B) and environmental factors. Concentrations of two compounds (1,5-dicaffeoylquinic acid and 3,5-dicaffeoylquinic acid) were correlated with environmental factors. The concentration of 1,5-dicaffeoylquinic acid is positively correlated with latitude, and is negatively correlated with the annual average temperature. The concentration of 3,5-dicaffeoylquinic acid is positively correlated with annual average precipitation. Therefore, changing cultivation conditions may significantly improve the yields of these two compounds. We found the concentration of scutellarin positively correlated with that of

Positive Correlation of Resistin with Blood Lipids in Gestational Diabetes

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Z Zare

2014-03-01

Full Text Available Background &Objective: Resistin is an important adipokin, secreted from adipocytes and causes insulin resistance. Gestational diabetes (GDM is characterized by insulin resistance in insulin target tissues. The goal of this research was to investigate whether there is a relationship among resistin and various clinical and metabolic parameters in GDM.Materials & Methods: 76 pregnant women who got the diagnosis of GDM were enrolled as the study group. 70 gestational age-matched pregnant women with normal glucose tolerance were recruited as the control group of the study. Serum resistin concentration, in addition to various metabolic and biochemical parameters, were measured in two groups.Results: Plasma resistin was not significantly different in GDM patients and subjects with normal glucose tolerance. Correlation analysis revealed that LDL cholesterol, total cholesterol and triglyceride were positively correlated with plasma resistin (P < 0.004, 0.01, and 0.02, respectively.Conclusion: Plasma resistin is correlated with insulin resistance, high serum LDL cholesterol, total cholesterol and TG in the Iranian GDM patients.

Evidence that pairing with genetically similar mates is maladaptive in a monogamous bird

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Mulard, Hervé; Danchin, E.; Talbot, S.L.; Ramey, A.M.; Hatch, Shyla A.; White, J.F.; Helfenstein, F.; Wagner, R.H.

2009-01-01

Background. Evidence of multiple genetic criteria of mate choice is accumulating in numerous taxa. In many species, females have been shown to pair with genetically dissimilar mates or with extra-pair partners that are more genetically compatible than their social mates, thereby increasing their offsprings' heterozygosity which often correlates with offspring fitness. While most studies have focused on genetically promiscuous species, few studies have addressed genetically monogamous species, in which mate choice tends to be mutual. Results. Here, we used microsatellite markers to assess individual global heterozygosity and genetic similarity of pairs in a socially and genetically monogamous seabird, the black-legged kittiwake Rissa tridactyla. We found that pairs were more genetically dissimilar than expected by chance. We also identified fitness costs of breeding with genetically similar partners: (i) genetic similarity of pairs was negatively correlated with the number of chicks hatched, and (ii) offspring heterozygosity was positively correlated with growth rate and survival. Conclusion. These findings provide evidence that breeders in a genetically monogamous species may avoid the fitness costs of reproducing with a genetically similar mate. In such species that lack the opportunity to obtain extra-pair fertilizations, mate choice may therefore be under high selective pressure. ?? 2009 Mulard et al; licensee BioMed Central Ltd.

Evidence that pairing with genetically similar mates is maladaptive in a monogamous bird

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Ramey Andrew M

2009-06-01

Full Text Available Abstract Background Evidence of multiple genetic criteria of mate choice is accumulating in numerous taxa. In many species, females have been shown to pair with genetically dissimilar mates or with extra-pair partners that are more genetically compatible than their social mates, thereby increasing their offsprings' heterozygosity which often correlates with offspring fitness. While most studies have focused on genetically promiscuous species, few studies have addressed genetically monogamous species, in which mate choice tends to be mutual. Results Here, we used microsatellite markers to assess individual global heterozygosity and genetic similarity of pairs in a socially and genetically monogamous seabird, the black-legged kittiwake Rissa tridactyla. We found that pairs were more genetically dissimilar than expected by chance. We also identified fitness costs of breeding with genetically similar partners: (i genetic similarity of pairs was negatively correlated with the number of chicks hatched, and (ii offspring heterozygosity was positively correlated with growth rate and survival. Conclusion These findings provide evidence that breeders in a genetically monogamous species may avoid the fitness costs of reproducing with a genetically similar mate. In such species that lack the opportunity to obtain extra-pair fertilizations, mate choice may therefore be under high selective pressure.

Genetic variability, correlation and path coefficients of yield and its components analysis in pumpkin (Cucurbita moschata Duch Ex Poir

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GM Mohsin

2017-06-01

Full Text Available Genetic variability, correlation and path coefficient were studied for yield and yield component traits in twenty one diverse genotypes of pumpkin. Highest genotypic coefficient of variation was recorded for fruit length (cm, single fruit weight (kg, Brix (% and yield per plant (kg. Heritability estimates in broad sense were higher for almost all the characters. The characters namely, fruit length, single fruit weight, yield per plant and brix% had high genotypic coefficient of variation coupled with heritability gave high genetic advance expressed as percentage of mean ranged from 76.84 to 96.06 which indicated that these characters were less influenced by environment confirming additive gene action, and therefore, selection of these characters would be more effective for yield improvement of pumpkins. Total six traits likely fruit length, fruit diameter, flesh thickness, single fruit weight and number of fruits per plant were positively and significantly associated with yield per plant. Path coefficient analysis also revealed maximum contribution of single fruit weight (0.869 to yield and this was followed by the contribution of number of fruit per plant (0.527 at genotypic level.

Positive carotenoid balance correlates with greater reproductive performance in a wild bird.

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Rebecca J Safran

Full Text Available BACKGROUND: Carotenoids can confer somatic and reproductive benefits, but most evidence is from captive animal experimentation or single time-point sampling. Another perhaps more informative means by which to assess physiological contributions to animal performance is by tracking an individual's ability to increase or sustain carotenoids or other health-related molecules over time, as these are likely to be temporally variable. METHODOLOGY/PRINCIPAL FINDINGS: In a field study of North American barn swallows (Hirundo rustica erythrogaster, we analyzed within-individual changes in carotenoid concentrations by repeatedly sampling the carotenoid profiles of individuals over the course of the breeding season. Our results demonstrate that carotenoid concentrations of individuals are temporally dynamic and that season-long balance of these molecules, rather than single time-point samples, predict reproductive performance. This was true even when controlling for two important variables associated with reproductive outcomes: (1 timing of breeding and (2 sexually selected plumage coloration, which is itself positively correlated with and concomitantly changes with circulating carotenoid concentrations. CONCLUSIONS/SIGNIFICANCE: While reproduction itself is purported to impose health stress on organisms, these data suggest that free-ranging, high-quality individuals can mitigate such costs, by one or several genetic, environmental (diet, or physiological mechanisms. Moreover, the temporal variations in both health-linked physiological measures and morphological traits we uncover here merit further examination in other species, especially when goals include the estimation of signal information content or the costs of trait expression.

Genes: Interactions with Language on Three Levels—Inter-Individual Variation, Historical Correlations and Genetic Biasing

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Dediu, Dan

The complex inter-relationships between genetics and linguistics encompass all four scales highlighted by the contributions to this book and, together with cultural transmission, the genetics of language holds the promise to offer a unitary understanding of this fascinating phenomenon. There are inter-individual differences in genetic makeup which contribute to the obvious fact that we are not identical in the way we understand and use language and, by studying them, we will be able to both better treat and enhance ourselves. There are correlations between the genetic configuration of human groups and their languages, reflecting the historical processes shaping them, and there also seem to exist genes which can influence some characteristics of language, biasing it towards or against certain states by altering the way language is transmitted across generations. Besides the joys of pure knowledge, the understanding of these three aspects of genetics relevant to language will potentially trigger advances in medicine, linguistics, psychology or the understanding of our own past and, last but not least, a profound change in the way we regard one of the emblems of being human: our capacity for language.

Sparse Canonical Correlation Analysis via Truncated ℓ1-norm with Application to Brain Imaging Genetics.

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Du, Lei; Zhang, Tuo; Liu, Kefei; Yao, Xiaohui; Yan, Jingwen; Risacher, Shannon L; Guo, Lei; Saykin, Andrew J; Shen, Li

2016-01-01

Discovering bi-multivariate associations between genetic markers and neuroimaging quantitative traits is a major task in brain imaging genetics. Sparse Canonical Correlation Analysis (SCCA) is a popular technique in this area for its powerful capability in identifying bi-multivariate relationships coupled with feature selection. The existing SCCA methods impose either the ℓ 1 -norm or its variants. The ℓ 0 -norm is more desirable, which however remains unexplored since the ℓ 0 -norm minimization is NP-hard. In this paper, we impose the truncated ℓ 1 -norm to improve the performance of the ℓ 1 -norm based SCCA methods. Besides, we propose two efficient optimization algorithms and prove their convergence. The experimental results, compared with two benchmark methods, show that our method identifies better and meaningful canonical loading patterns in both simulated and real imaging genetic analyse.

Additive genetic variation in resistance of Nile tilapia (Oreochromis niloticus) to Streptococcus iniae and S. agalactiae capsular type Ib: is genetic resistance correlated?

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Streptococcus (S.) iniae and S. agalactiae are both economically important Gram positive bacterial pathogens affecting the globally farmed tilapia (Oreochromis spp.). Historically control of these bacteria in tilapia culture has included biosecurity, therapeutants and vaccination strategies. Genet...

Sexual selection on spontaneous mutations strengthens the between-sex genetic correlation for fitness.

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Allen, Scott L; McGuigan, Katrina; Connallon, Tim; Blows, Mark W; Chenoweth, Stephen F

2017-10-01

A proposed benefit to sexual selection is that it promotes purging of deleterious mutations from populations. For this benefit to be realized, sexual selection, which is usually stronger on males, must purge mutations deleterious to both sexes. Here, we experimentally test the hypothesis that sexual selection on males purges deleterious mutations that affect both male and female fitness. We measured male and female fitness in two panels of spontaneous mutation-accumulation lines of the fly, Drosophila serrata, each established from a common ancestor. One panel of mutation accumulation lines limited both natural and sexual selection (LS lines), whereas the other panel limited natural selection, but allowed sexual selection to operate (SS lines). Although mutation accumulation caused a significant reduction in male and female fitness in both the LS and SS lines, sexual selection had no detectable effect on the extent of the fitness reduction. Similarly, despite evidence of mutational variance for fitness in males and females of both treatments, sexual selection had no significant impact on the amount of mutational genetic variance for fitness. However, sexual selection did reshape the between-sex correlation for fitness: significantly strengthening it in the SS lines. After 25 generations, the between-sex correlation for fitness was positive but considerably less than one in the LS lines, suggesting that, although most mutations had sexually concordant fitness effects, sex-limited, and/or sex-biased mutations contributed substantially to the mutational variance. In the SS lines this correlation was strong and could not be distinguished from unity. Individual-based simulations that mimick the experimental setup reveal two conditions that may drive our results: (1) a modest-to-large fraction of mutations have sex-limited (or highly sex-biased) fitness effects, and (2) the average fitness effect of sex-limited mutations is larger than the average fitness effect of

Correlation between orbital volume, body mass index, and eyeball position in healthy East asians.

Science.gov (United States)

Yoo, Jun Ho; Lee, Young Hen; Lee, Hwa; Kim, Jung Wan; Chang, Minwook; Park, Minsoo; Baek, Sehyun

2013-05-01

The objectives of this study were measure the orbital volume of healthy Koreans and analyze the differences between orbital tissue volume with respect to age and sex and to assess any correlation between body mass index (BMI), eyeball position, and orbital volume. We retrospectively evaluated the scan results of patients who had undergone orbital computed tomography scans between November 2010 and November 2011. We assessed the scan results of 184 orbits in 92 adults who had no pathology of the orbit. The individuals were classified into 3 groups with respect to age. Orbital volume, effective orbital volume (defined as the difference between orbital and eyeball volume), extraocular muscle volume, orbital fat volume, and transverse globe protrusion were recorded and analyzed. The records of the subjects were reviewed retrospectively, and BMI was calculated. A correlation analysis was performed to investigate the correlation between BMI, eyeball position, and orbital volume. Orbital tissue volume, with the exception of orbital fat volume, was larger in men compared with women. In both sexes, orbital fat volume increased with increasing age, whereas the other volumes decreased. Orbital tissue volumes increased with increasing BMI, but transverse globe protrusion was not significantly related to BMI. In addition, orbital volume and effective orbital volume were positively correlated with transverse globe protrusion. These results provide basic information about the effects of age, sex, and BMI on orbital volume and eyeball position in healthy Koreans. Furthermore, these results will be helpful in the diagnosis of orbital diseases and in planning orbital surgeries.

Spurious correlations and inference in landscape genetics

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Samuel A. Cushman; Erin L. Landguth

2010-01-01

Reliable interpretation of landscape genetic analyses depends on statistical methods that have high power to identify the correct process driving gene flow while rejecting incorrect alternative hypotheses. Little is known about statistical power and inference in individual-based landscape genetics. Our objective was to evaluate the power of causalmodelling with partial...

Pitfalls in genetic analysis of pheochromocytomas/paragangliomas-case report.

Science.gov (United States)

Canu, Letizia; Rapizzi, Elena; Zampetti, Benedetta; Fucci, Rossella; Nesi, Gabriella; Richter, Susan; Qin, Nan; Giachè, Valentino; Bergamini, Carlo; Parenti, Gabriele; Valeri, Andrea; Ercolino, Tonino; Eisenhofer, Graeme; Mannelli, Massimo

2014-07-01

About 35% of patients with pheochromocytoma/paraganglioma carry a germline mutation in one of the 10 main susceptibility genes. The recent introduction of next-generation sequencing will allow the analysis of all these genes in one run. When positive, the analysis is generally unequivocal due to the association between a germline mutation and a concordant clinical presentation or positive family history. When genetic analysis reveals a novel mutation with no clinical correlates, particularly in the presence of a missense variant, the question arises whether the mutation is pathogenic or a rare polymorphism. We report the case of a 35-year-old patient operated for a pheochromocytoma who turned out to be a carrier of a novel SDHD (succinate dehydrogenase subunit D) missense mutation. With no positive family history or clinical correlates, we decided to perform additional analyses to test the clinical significance of the mutation. We performed in silico analysis, tissue loss of heterozygosity analysis, immunohistochemistry, Western blot analysis, SDH enzymatic assay, and measurement of the succinate/fumarate concentration ratio in the tumor tissue by tandem mass spectrometry. Although the in silico analysis gave contradictory results according to the different methods, all the other tests demonstrated that the SDH complex was conserved and normally active. We therefore came to the conclusion that the variant was a nonpathogenic polymorphism. Advancements in technology facilitate genetic analysis of patients with pheochromocytoma but also offer new challenges to the clinician who, in some cases, needs clinical correlates and/or functional tests to give significance to the results of the genetic assay.

Smoking and caffeine consumption: a genetic analysis of their association

NARCIS (Netherlands)

Treur, J.L.; Taylor, A.E.; Ware, J.J.; Nivard, M.G.; Neale, M.C.; McMahon, G.; Hottenga, J.J.; Baselmans, B.M.L.; Boomsma, D.I.; Munafò, M.; Vink, J.M.

2017-01-01

Smoking and caffeine consumption show a strong positive correlation, but the mechanism underlying this association is unclear. Explanations include shared genetic/environmental factors or causal effects. This study employed three methods to investigate the association between smoking and caffeine.

Genetic parameters for type classification of Nelore cattle on central performance tests at pasture in Brazil.

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Lima, Paulo Ricardo Martins; Paiva, Samuel Rezende; Cobuci, Jaime Araujo; Braccini Neto, José; Machado, Carlos Henrique Cavallari; McManus, Concepta

2013-10-01

The objective of this study was to characterize Nelore cattle on central performance tests in pasture, ranked by the visual classification method EPMURAS (structure, precocity, muscle, navel, breed, posture, and sexual characteristics), and to estimate genetic and phenotypic correlations between these parameters, including visual as well as production traits (initial and final weight on test, weight gain, and weight corrected for 550 days). The information used in the study was obtained on 21,032 Nelore bulls which were participants in the central performance test at pasture of the Brazilian Association for Zebu Breeders (ABCZ). Heritabilities obtained were from 0.19 to 0.50. Phenotypic correlations were positive from 0.70 to 0.97 between the weight traits, from 0.65 to 0.74 between visual characteristics, and from 0.29 to 0.47 between visual characteristics and weight traits. The genetic correlations were positive ranging from 0.80 to 0.98 between the characteristics of structure, precocity and musculature, from 0.13 to 0.64 between the growth characteristics, and from 0.41 to 0.97 between visual scores and weight gains. Heritability and genetic correlations indicate that the use of visual scores, along with the selection for growth characteristics, can bring positive results in selection of beef cattle for rearing on pasture.

Genetic and Phenotypic Correlations between Performance Traits with Meat Quality and Carcass Characteristics in Commercial Crossbred Pigs

Science.gov (United States)

Miar, Younes; Plastow, Graham; Bruce, Heather; Moore, Stephen; Manafiazar, Ghader; Kemp, Robert; Charagu, Patrick; Huisman, Abe; van Haandel, Benny; Zhang, Chunyan; McKay, Robert; Wang, Zhiquan

2014-01-01

Genetic correlations between performance traits with meat quality and carcass traits were estimated on 6,408 commercial crossbred pigs with performance traits recorded in production systems with 2,100 of them having meat quality and carcass measurements. Significant fixed effects (company, sex and batch), covariates (birth weight, cold carcass weight, and age), random effects (additive, litter and maternal) were fitted in the statistical models. A series of pairwise bivariate analyses were implemented in ASREML to estimate heritability, phenotypic, and genetic correlations between performance traits (n = 9) with meat quality (n = 25) and carcass (n = 19) traits. The animals had a pedigree compromised of 9,439 animals over 15 generations. Performance traits had low-to-moderate heritabilities (±SE), ranged from 0.07±0.13 to 0.45±0.07 for weaning weight, and ultrasound backfat depth, respectively. Genetic correlations between performance and carcass traits were moderate to high. The results indicate that: (a) selection for birth weight may increase drip loss, lightness of longissimus dorsi, and gluteus medius muscles but may reduce fat depth; (b) selection for nursery weight can be valuable for increasing both quantity and quality traits; (c) selection for increased daily gain may increase the carcass weight and most of the primal cuts. These findings suggest that deterioration of pork quality may have occurred over many generations through the selection for less backfat thickness, and feed efficiency, but selection for growth had no adverse effects on pork quality. Low-to-moderate heritabilities for performance traits indicate that they could be improved using traditional selection or genomic selection. The estimated genetic parameters for performance, carcass and meat quality traits may be incorporated into the breeding programs that emphasize product quality in these Canadian swine populations. PMID:25350845

Genetic contributions to human brain morphology and intelligence

DEFF Research Database (Denmark)

Hulshoff Pol, HE; Schnack, HG; Posthuma, D

2006-01-01

the focal GM and WM densities of each twin are correlated with the psychometric intelligence quotient of his/her cotwin. Genes influenced individual differences in left and right superior occipitofrontal fascicle (heritability up to 0.79 and 0.77), corpus callosum (0.82, 0.80), optic radiation (0.69, 0.......79), corticospinal tract (0.78, 0.79), medial frontal cortex (0.78, 0.83), superior frontal cortex (0.76, 0.80), superior temporal cortex (0.80, 0.77), left occipital cortex (0.85), left postcentral cortex (0.83), left posterior cingulate cortex (0.83), right parahippocampal cortex (0.69), and amygdala (0.80, 0......Variation in gray matter (GM) and white matter (WM) volume of the adult human brain is primarily genetically determined. Moreover, total brain volume is positively correlated with general intelligence, and both share a common genetic origin. However, although genetic effects on morphology...

Genomic Model with Correlation Between Additive and Dominance Effects.

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Xiang, Tao; Christensen, Ole Fredslund; Vitezica, Zulma Gladis; Legarra, Andres

2018-05-09

Dominance genetic effects are rarely included in pedigree-based genetic evaluation. With the availability of single nucleotide polymorphism markers and the development of genomic evaluation, estimates of dominance genetic effects have become feasible using genomic best linear unbiased prediction (GBLUP). Usually, studies involving additive and dominance genetic effects ignore possible relationships between them. It has been often suggested that the magnitude of functional additive and dominance effects at the quantitative trait loci are related, but there is no existing GBLUP-like approach accounting for such correlation. Wellmann and Bennewitz showed two ways of considering directional relationships between additive and dominance effects, which they estimated in a Bayesian framework. However, these relationships cannot be fitted at the level of individuals instead of loci in a mixed model and are not compatible with standard animal or plant breeding software. This comes from a fundamental ambiguity in assigning the reference allele at a given locus. We show that, if there has been selection, assigning the most frequent as the reference allele orients the correlation between functional additive and dominance effects. As a consequence, the most frequent reference allele is expected to have a positive value. We also demonstrate that selection creates negative covariance between genotypic additive and dominance genetic values. For parameter estimation, it is possible to use a combined additive and dominance relationship matrix computed from marker genotypes, and to use standard restricted maximum likelihood (REML) algorithms based on an equivalent model. Through a simulation study, we show that such correlations can easily be estimated by mixed model software and accuracy of prediction for genetic values is slightly improved if such correlations are used in GBLUP. However, a model assuming uncorrelated effects and fitting orthogonal breeding values and dominant

Genetic and Environmental Associations Between Procrastination and Internalizing/Externalizing Psychopathology.

Science.gov (United States)

Gustavson, Daniel E; du Pont, Alta; Hatoum, Alexander S; Hyun Rhee, Soo; Kremen, William S; Hewitt, John K; Friedman, Naomi P

2017-09-01

Recent work on procrastination has begun to unravel the genetic and environmental correlates of this problematic behavior. However, little is known about how strongly procrastination is associated with internalizing and externalizing psychopathology, and the extent to which shared genetic/environmental factors or relevant personality constructs (e.g., fear of failure, impulsivity, and neuroticism) can inform the structure of these associations. The current study examined data from 764 young adult twins who completed questionnaires assessing procrastination and personality and structured interviews regarding psychopathology symptoms. Results indicated that procrastination was positively correlated with both internalizing and externalizing latent variables, and that these correlations were driven by shared genetic influences. Moreover, the association between procrastination and internalizing was accounted for by fear of failure and neuroticism, whereas the association between procrastination and externalizing was primarily explained by impulsivity. The role of procrastination in psychopathology is discussed using a framework that highlights common and broadband-specific variance.

Selection for increased desiccation resistance in Drosophila melanogaster: Additive genetic control and correlated responses for other stresses

International Nuclear Information System (INIS)

Hoffmann, A.A.; Parsons, P.A.

1989-01-01

Previously we found that Drosophila melanogaster lines selected for increased desiccation resistance have lowered metabolic rate and behavioral activity levels, and show correlated responses for resistance to starvation and a toxic ethanol level. These results were consistent with a prediction that increased resistance to many environmental stresses may be genetically correlated because of a reduction in metabolic energy expenditure. Here we present experiments on the genetic basis of the selection response and extend the study of correlated responses to other stresses. The response to selection was not sex-specific and involved X-linked and autosomal genes acting additively. Activity differences contributed little to differences in desiccation resistance between selected and control lines. Selected lines had lower metabolic rates than controls in darkness when activity was inhibited. Adults from selected lines showed increased resistance to a heat shock, 60 Co-gamma-radiation, and acute ethanol and acetic acid stress. The desiccation, ethanol and starvation resistance of isofemale lines set up from the F2s of a cross between one of the selected and one of the control lines were correlated. Selected and control lines did not differ in ether-extractable lipid content or in resistance to acetone, ether or a cold shock

Genetic variants of retinol-binding protein 4 in adolescents are ...

Indian Academy of Sciences (India)

2015-09-03

Sep 3, 2015 ... associated with T2D and serum triglyceride levels in another study of a Chinese ... Japan). Serum levels of high-density lipoprotein cholesterol .... a positive correlation between RBP genetic variants and obe- sity, IR or MetS ...

Correlations among three measures of puberty in mice and relationships with estradiol concentration and ovulation.

Science.gov (United States)

Safranski, T J; Lamberson, W R; Keisler, D H

1993-03-01

Correlations among ages and weights at vaginal opening (AVO, WVO), positive vaginal smear (AVE, WVE), and copulatory plug (AVP, WVP) were determined using 623 mice. Two additional experiments were conducted to determine association of each with serum concentrations of estradiol and incidence of ovulation. Female mice were weaned at 21 days and 24 days of age were assigned randomly to mate with males. Mice were checked daily to determine AVO, AVE, and AVP. Mice were weighted weekly and WVO, WVE, and WVP were obtained by interpolation. Genetic correlations among ages and weights were small and mainly negative. Phenotypic correlations were small to moderate and mainly positive. Genetic correlations among the three measures of age and among the three measures of weight were moderate to high and positive; respective phenotypic correlations were somewhat smaller. In experiment 2, mice were checked daily for the three reproductive measures and bled at vaginal opening (n = 23), positive smear (n = 18), or copulatory plug (n = 19). Serum was assayed for estradiol via radioimmunoassay. No differences were found among the three indicators (p = 0.34). In experiment 3, mice were randomly assigned to be killed after detection of vaginal opening, positive smear, or copulatory plug. Oviducts were removed and flushed with saline to determine presence of ova. A greater (p < 0.05) proportion of mice had ovulated when killed after detection of copulatory plug (20/22) than after positive smear (4/27), and the proportion was greater after positive smear than after vaginal opening (0/14).(ABSTRACT TRUNCATED AT 250 WORDS)

Ethics of genetic testing and research in sport: a position statement from the Australian Institute of Sport

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Vlahovich, Nicole; Fricker, Peter A; Brown, Matthew A; Hughes, David

2017-01-01

As Australia's peak high-performance sport agency, the Australian Institute of Sport (AIS) has developed this position statement to address the implications of recent advances in the field of genetics and the ramifications for the health and well-being of athletes. Genetic testing has proven of value in the practice of clinical medicine. There are, however, currently no scientific grounds for the use of genetic testing for athletic performance improvement, sport selection or talent identification. Athletes and coaches should be discouraged from using direct-to-consumer genetic testing because of its lack of validation and replicability and the lack of involvement of a medical practitioner in the process. The transfer of genetic material or genetic modification of cells for performance enhancement is gene doping and should not be used on athletes. There are, however, valid roles for genetic research and the AIS supports genetic research which aims to enhance understanding of athlete susceptibility to injury or illness. Genetic research is only to be conducted after careful consideration of a range of ethical concerns which include the provision of adequate informed consent. The AIS is committed to providing leadership in delivering an ethical framework that protects the well-being of athletes and the integrity of sport, in the rapidly changing world of genomic science. PMID:27899345

Genetic correlations between methane production and fertility, health, and body type traits in Danish Holstein cows.

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Zetouni, L; Kargo, M; Norberg, E; Lassen, J

2018-03-01

Our aim was to investigate the genetic correlations between CH 4 production and body conformation, fertility, and health traits in dairy cows. Data were collected from 10 commercial Holstein herds in Denmark, including 5,758 cows with records for body conformation traits, 7,390 for fertility traits, 7,439 for health traits, and 1,397 with individual CH 4 measurements. Methane production was measured during milking in automatic milking systems, using a sniffer approach. Correlations between CH 4 and several different traits were estimated. These traits were interval between calving and first insemination, interval between first and last insemination, number of inseminations, udder diseases, other diseases, height, body depth, chest width, dairy character, top line, and body condition score. Bivariate linear models were used to estimate the genetic parameters within and between CH 4 and the other traits. In general, the genetic correlations between CH 4 and the traits investigated were low. The heritability of CH 4 was 0.25, and ranged from 0.02 to 0.07 for fertility and health traits, and from 0.17 to 0.74 for body conformation traits. Further research with a larger data set should be performed to more accurately establish how CH 4 relates to fertility, health, and body conformation traits in dairy cattle. This will be useful in the design of future breeding goals that consider the production of CH 4 . The Authors. Published by the Federation of Animal Science Societies and Elsevier Inc. on behalf of the American Dairy Science Association®. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).

The relationships between chemical and genetic differentiation and environmental factors across the distribution of Erigeron breviscapus (Asteraceae.

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Xiang Li

Full Text Available AIMS: Erigeron breviscapus (Vant. Hand.-Mazz. is an important, widely used Chinese herb with scutellarin, 1,5-dicaffeoylquinic acid, 3,5-dicaffeoylquinic acid and erigoster B being its major active compounds. We aimed to resolve the influence of biotic and abiotic factors on the concentrations of these compounds and to determine appropriate cultivation methods to improve the yields of the four compounds in this herb. METHODS: In order to detect the major genetic and natural environmental factors affecting the yields of these four compounds, we applied AFLP markers to investigate the population genetic differentiation and HPLC to measure the concentrations of four major active compounds among 23 wild populations which were located across almost the entire distribution of this species in China. The meteorological data including annual average temperature, annual average precipitation and annual average hours of sunshine were collected. The relationships among the concentrations of four compounds and environmental factors and genetic differentiation were studied. IMPORTANT FINDINGS: Low intraspecific genetic differentiation is detected, and there is no obvious correlation between the genetic differentiation and the contents of the chemical compounds. We investigated the correlation between the concentrationsof four compounds (scutellarin, 1,5-dicaffeoylquinic acid, 3,5-dicaffeoylquinic acid and erigoster B and environmental factors. Concentrations of two compounds (1,5-dicaffeoylquinic acid and 3,5-dicaffeoylquinic acid were correlated with environmental factors. The concentration of 1,5-dicaffeoylquinic acid is positively correlated with latitude, and is negatively correlated with the annual average temperature. The concentration of 3,5-dicaffeoylquinic acid is positively correlated with annual average precipitation. Therefore, changing cultivation conditions may significantly improve the yields of these two compounds. We found the concentration

Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors.

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Hercher, Laura; Uhlmann, Wendy R; Hoffman, Erin P; Gustafson, Shanna; Chen, Kelly M

2016-12-01

Advances in genetic testing and the availability of such testing in pregnancy allows prospective parents to test their future child for adult-onset conditions. This ability raises several complex ethical issues. Prospective parents have reproductive rights to obtain information about their fetus. This information may or may not alter pregnancy management. These rights can be in conflict with the rights of the future individual, who will be denied the right to elect or decline testing. This paper highlights the complexity of these issues, details discussions that went into the National Society of Genetic Counselors (NSGC) Public Policy Task Force's development of the Prenatal testing for Adult-Onset Conditions position statement adopted in November 2014, and cites relevant literature on this topic through December 2015. Issues addressed include parental rights and autonomy, rights of the future child, the right not to know, possible adverse effects on childhood and the need for genetic counseling. This paper will serve as a reference to genetic counselors and healthcare professionals when faced with this situation in clinical practice.

The CN–CH Positive Correlation in the Globular Cluster NGC 5286

Energy Technology Data Exchange (ETDEWEB)

Lim, Dongwook; Hong, Seungsoo; Lee, Young-Wook, E-mail: dwlim@yonsei.ac.kr, E-mail: ywlee2@yonsei.ac.kr [Center for Galaxy Evolution Research and Department of Astronomy, Yonsei University, Seoul 03722 (Korea, Republic of)

2017-07-20

We performed low-resolution spectroscopy of the red giant stars in the Galactic globular cluster (GC) NGC 5286, which is known to show intrinsic heavy element abundance variations. We found that the observed stars in this GC are clearly divided into three subpopulations by CN index (CN-weak, CN-intermediate, and CN-strong). The CN-strong stars are also enhanced in the calcium HK′ (7.4 σ ) and CH (5.1 σ ) indices, while the CN-intermediate stars show no significant difference in the strength of the HK′ index from the CN-weak stars. From the comparison with high-resolution spectroscopic data, we found that the CN- and HK′-strong stars are also enhanced in the abundances of Fe and s -process elements. It appears, therefore, that these stars are later-generation stars affected by some supernova enrichment in addition to the asymptotic giant branch ejecta. In addition, unlike normal GCs, sample stars in NGC 5286 show the CN–CH positive correlation, strengthening our previous suggestion that this positive correlation is only discovered in GCs with heavy element abundance variations, such as M22 and NGC 6273.

Change in genetic correlation due to selection using animal model evaluation.

Science.gov (United States)

Strandén, I; Mäntysaari, E A; Mäki-Tanila, A

1993-01-12

Monte Carlo simulation and analytical calculations were used to study the effect of selection on genetic correlation between two traits. The simulated breeding program was based on a closed adult multiple ovulation and embryo transfer nucleus breeding scheme. Selection was on an index calculated using multi-trait animal model (AM). Analytical formulae applicable to any evaluation method were derived to predict change in genetic (co)variance due to selection under multi-trait selection using different evaluation methods. Two formulae were investigated, one assuming phenotypic selection and the other based on a recursive two-generation AM selection index. The recursive AM method approximated information due to relatives by a relationship matrix of two generations. Genetic correlation after selection was compared under different levels of initial genetic and environmental correlations with two different selection criteria. Changes in genetic correlation were similar in simulation and analytical predictions. After one round of selection the recursive AM method and the simulation gave similar predictions while the phenotypic selection predicted usually more change in genetic correlation. After several rounds of selection both analytical formulae predicted more change in genetic correlation than the simulation. ZUSAMMENFASSUNG: Änderung der genetischen Korrelation bei Selektion mit einem Tiermodell Der Selektionseffekt auf die genetische Korrelation zwischen zwei Merkmalen wurde mit Hilfe von Monte Carlo-Simulation und analytischen Berechnungen untersucht. Ein geschlossener Adulter - MOET (Multiple Ovulation and Embryo Transfer) Zuchtplan wurde simuliert. Die Selektion gründete sich auf einen Index, der die Zuchtwertschätzung des Mehrmerkmals-Tiermodells benutzte. Analytische Formeln für die Voraussage der Änderung der genetischen (Ko)varianz unter multivariate Selektion für verschiedene Zuchtwertschätzungsmethode wurden deduziert. Zwei Formeln wurden studiert

Heritability and genetic correlations for volume, foxtails, and other characteristics of Caribbean pine in Puerto Rico

Science.gov (United States)

F. Thomas Ledig; J.L. Whitmore

1981-01-01

Caribbean pine is an important exotic being bred throughout the tropics, but published estimates are lacking for heritability of economically important traits and the genetic correlations between them. Based on a Puerto Rican trial of 16 open-pollinated parents of var. hondurensis selected in Belize, heritabilities for a number of characteristics...

Chicken meat quality: genetic variability and relationship with growth and muscle characteristics

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Santé-Lhoutellier Véronique

2008-08-01

Full Text Available Abstract Background The qualitative properties of the meat are of major importance for poultry breeding, since meat is now widely consumed as cuts or as processed products. The aim of this study was to evaluate the genetic parameters of several breast meat quality traits and their genetic relationships with muscle characteristics in a heavy commercial line of broilers. Results Significant levels of heritability (averaging 0.3 were obtained for breast meat quality traits such as pH at 15 min post-slaughter, ultimate pH (pHu, color assessed by lightness L*, redness a* and yellowness b*, drip loss, thawing-cooking loss and shear-force. The rate of decrease in pH early post-mortem and the final pH of the meat were shown to be key factors of chicken meat quality. In particular, a decrease in the final pH led to paler, more exudative and tougher breast meat. The level of glycogen stored in breast muscle estimated by the Glycolytic Potential (GP at slaughter time was shown to be highly heritable (h2 0.43. There was a very strong negative genetic correlation (rg with ultimate meat pH (rg -0.97, suggesting a common genetic control for GP and pHu. While breast muscle weight was genetically positively correlated with fiber size (rg 0.76, it was negatively correlated with the level of glycogen stored in the muscle (rg -0.58, and as a consequence it was positively correlated with the final pH of the meat (rg 0.84. Conclusion This genetic study confirmed that selection should be useful to improve meat characteristics of meat-type chickens without impairing profitability because no genetic conflict was detected between meat quality and meat quantity. Moreover, the results suggested relevant selection criteria such as ultimate pH, which is strongly related to color, water-holding capacity and texture of the meat in this heavy chicken line.

Heritability of high sugar consumption through drinks and the genetic correlation with substance use.

Science.gov (United States)

Treur, Jorien L; Boomsma, Dorret I; Ligthart, Lannie; Willemsen, Gonneke; Vink, Jacqueline M

2016-10-01

High sugar consumption contributes to the rising prevalence of obesity. Sugar can have rewarding effects that are similar to, but less strong than, the effects of addictive substances. People who consume large amounts of sugar also tend to use more addictive substances, but it is unclear whether this is due to shared genetic or environmental risk factors. We examined whether there are genetic influences on the consumption of sugar-containing drinks and whether genetic factors can explain the association with substance use. The frequency of consumption of sugar-containing drinks (e.g., cola, soft drinks, and energy drinks) and addictive substances (nicotine, caffeine, alcohol, cannabis, and illicit drugs) was obtained for 8586 twins who were registered at the Netherlands Twin Register (women: 68.7%; mean ± SD age: 33.5 ± 15.3 y). Participants were categorized as high or low sugar consumers (>1 compared with ≤1 SD above daily consumption in grams) and as high or low substance users (≥2 compared with <2 substances). Through bivariate genetic modeling, genetic and environmental influences on sugar consumption, substance use, and their association were estimated. Genetic factors explained 48% of the variation in high sugar consumption, whereas unique environmental factors explained 52%. For high substance use, these values were 62% and 38%, respectively. There was a moderate phenotypic association between high sugar consumption and high substance use (r = 0.2), which was explained by genetic factors (59%) and unique environmental factors (41%). The positive association between high sugar consumption and high substance use was partly due to unique environmental factors (e.g., social situations). Genetic factors were also of influence, suggesting that neuronal circuits underlying the development of addiction and obesity are related. Further research is needed to identify genes that influence sugar consumption and those that overlap with substance use. © 2016

Genetic correlates of insight in schizophrenia.

Science.gov (United States)

Xavier, Rose Mary; Vorderstrasse, Allison; Keefe, Richard S E; Dungan, Jennifer R

2018-05-01

Insight in schizophrenia is clinically important as it is associated with several adverse outcomes. Genetic contributions to insight are unknown. We examined genetic contributions to insight by investigating if polygenic risk scores (PRS) and candidate regions were associated with insight. Schizophrenia case-only analysis of the Clinical Antipsychotics Trials of Intervention Effectiveness trial. Schizophrenia PRS was constructed using Psychiatric Genomics Consortium (PGC) leave-one out GWAS as discovery data set. For candidate regions, we selected 105 schizophrenia-associated autosomal loci and 11 schizophrenia-related oligodendrocyte genes. We used regressions to examine PRS associations and set-based testing for candidate analysis. We examined data from 730 subjects. Best-fit PRS at p-threshold of 1e-07 was associated with total insight (R 2 =0.005, P=0.05, empirical P=0.054) and treatment insight (R 2 =0.005, P=0.048, empirical P=0.048). For models that controlled for neurocognition, PRS significantly predicted treatment insight but at higher p-thresholds (0.1 to 0.5) but did not survive correction. Patients with highest polygenic burden had 5.9 times increased risk for poor insight compared to patients with lowest burden. PRS explained 3.2% (P=0.002, empirical P=0.011) of variance in poor insight. Set-based analyses identified two variants associated with poor insight- rs320703, an intergenic variant (within-set P=6e-04, FDR P=0.046) and rs1479165 in SOX2-OT (within-set P=9e-04, FDR P=0.046). To the best of our knowledge, this is the first study examining genetic basis of insight. We provide evidence for genetic contributions to impaired insight. Relevance of findings and necessity for replication are discussed. Copyright © 2017 Elsevier B.V. All rights reserved.

Behavioral versus genetic correlates of lipoproteins and adiposity in identical twins discordant for exercise.

Science.gov (United States)

Williams, Paul T; Blanche, Patricia J; Krauss, Ronald M

2005-07-19

Lipoprotein and weight differences between vigorously active and sedentary monozygotic (MZ) twins were used to (1) estimate the effects of training while controlling for genotype and (2) estimate genetic concordance (ie, similarity) in the presence of divergent lifestyles. Thirty-five pairs of MZ twins (25 male, 10 female) were recruited nationally who were discordant for vigorous exercise (running distances differed by > or =40 km in male and > or =32 km in female twins). The active twins ran an average (mean+/-SD) of 63.0+/-20.4 km/wk, whereas the mostly sedentary twins averaged 7.0+/-13.5 km/wk. The active twins had significantly lower body mass index (difference+/-SE, -2.12+/-0.57 kg/m2, P=0.0007) and significantly higher HDL cholesterol (0.14+/-0.04 mmol/L, P=0.004), HDL2 (2.71+/-1.04 U, P=0.01), and apolipoprotein (apo) A-I (0.10+/-0.03 g/L, P=0.004). Despite the difference in lifestyle, when adjusted for sex, the correlations between the discordant MZ twin pairs were significant (PHDL cholesterol (r=0.69), apoA-I (r=0.58), and HDL2 (r=0.67). There was no significant MZ twin correlation for body mass index (r=0.17). None of the active twins having an overweight twin were themselves overweight. Behavior (vigorous exercise) may reduce genetic influences on body mass index. In contrast, genetics (or shared environment) substantially influences HDL cholesterol and HDL subclasses, even in the presence of extreme behavioral differences. There may be greater individual control over moderate degrees of obesity, whereas low HDL cholesterol may be largely predetermined and less effectively treated by vigorous exercise.

Genetic Testing and Post-Testing Decision Making among BRCA-Positive Mutation Women: A Psychosocial Approach.

Science.gov (United States)

Hesse-Biber, Sharlene; An, Chen

2016-10-01

Through an analysis of an online survey of women who tested positive for the BRCA genetic mutation for breast cancer, this research uses a social constructionist and feminist standpoint lens to understand the decision-making process that leads BRCA-positive women to choose genetic testing. Additionally, this research examines how they socially construct and understand their risk for developing breast cancer, as well as which treatment options they undergo post-testing. BRCA-positive women re-frame their statistical medical risk for developing cancer and their post-testing treatment choices through a broad psychosocial context of engagement that also includes their social networks. Important psychosocial factors drive women's medical decisions, such as individual feelings of guilt and vulnerability, and the degree of perceived social support. Women who felt guilty and fearful that they might pass the BRCA gene to their children were more likely to undergo risk reducing surgery. Women with at least one daughter and women without children were more inclined toward the risk reducing surgery compared to those with only sons. These psychosocial factors and social network engagements serve as a "nexus of decision making" that does not, for the most part, mirror the medical assessments of statistical odds for hereditary cancer development, nor the specific treatment protocols outlined by the medical establishment.

ADAM10 mediates trastuzumab resistance and is correlated with survival in HER2 positive breast cancer

Science.gov (United States)

Feldinger, Katharina; Generali, Daniele; Kramer-Marek, Gabriela; Gijsen, Merel; Ng, Tzi Bun; Wong, Jack Ho; Strina, Carla; Cappelletti, Mariarosa; Andreis, Daniele; Li, Ji-Liang; Bridges, Esther; Turley, Helen; Leek, Russell; Roxanis, Ioannis; Capala, Jacek; Murphy, Gillian; Harris, Adrian L.; Kong, Anthony

2014-01-01

Trastuzumab prolongs survival in HER2 positive breast cancer patients. However, resistance remains a challenge. We have previously shown that ADAM17 plays a key role in maintaining HER2 phosphorylation during trastuzumab treatment. Beside ADAM17, ADAM10 is the other well characterized ADAM protease responsible for HER ligand shedding. Therefore, we studied the role of ADAM10 in relation to trastuzumab treatment and resistance in HER2 positive breast cancer. ADAM10 expression was assessed in HER2 positive breast cancer cell lines and xenograft mice treated with trastuzumab. Trastuzumab treatment increased ADAM10 levels in HER2 positive breast cancer cells (p≤0.001 in BT474; p≤0.01 in SKBR3) and in vivo (p≤0.0001) compared to control, correlating with a decrease in PKB phosphorylation. ADAM10 inhibition or knockdown enhanced trastuzumab response in naïve and trastuzumab resistant breast cancer cells. Trastuzumab monotherapy upregulated ADAM10 (p≤0.05); and higher pre-treatment ADAM10 levels correlated with decreased clinical response (p≤0.05) at day 21 in HER2 positive breast cancer patients undergoing a trastuzumab treatment window study. Higher ADAM10 levels correlated with poorer relapse-free survival (p≤0.01) in a cohort of HER2 positive breast cancer patients. Our studies implicate a role of ADAM10 in acquired resistance to trastuzumab and establish ADAM10 as a therapeutic target and a potential biomarker for HER2 positive breast cancer patients. PMID:24952873

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

Estimation of heritability and genetic correlation of body weight gain and growth curve parameters in Korean native chicken

Directory of Open Access Journals (Sweden)

Prabuddha Manjula

2018-01-01

Full Text Available Objective This study estimated the genetic parameters for body weight gain and growth curve parameter traits in Korean native chicken (KNC. Methods A total of 585 F1 chickens were used along with 88 of their F0 birds. Body weights were measured every 2 weeks from hatching to 20 weeks of age to measure weight gain at 2-week intervals. For each individual, a logistic growth curve model was fitted to the longitudinal growth dataset to obtain three growth curve parameters (α, asymptotic final body weight; β, inflection point; and γ, constant scale that was proportional to the overall growth rate. Genetic parameters were estimated based on the linear-mixed model using a restricted maximum likelihood method. Results Heritability estimates of body weight gain traits were low to high (0.057 to 0.458. Heritability estimates for α, β, and γ were 0.211±0.08, 0.249±0.09, and 0.095±0.06, respectively. Both genetic and phenotypic correlations between weight gain traits ranged from −0.527 to 0.993. Genetic and phenotypic correlation between the growth curve parameters and weight gain traits ranged from −0.968 to 0.987. Conclusion Based on the results of this study population, we suggest that the KNC could be used for selective breeding between 6 and 8 weeks of age to enhance the overall genetic improvement of growth traits. After validation of these results in independent studies, these findings will be useful for further optimization of breeding programs for KNC.

On bounded rank positive semidefinite matrix completions of extreme partial correlation matrices.

NARCIS (Netherlands)

M. Eisenberg-Nagy (Marianna); M. Laurent (Monique); A. Varvitsiotis (Antonios)

2012-01-01

textabstractWe study a new geometric graph parameter $egd(G)$, defined as the smallest integer $r\\ge 1$ for which any partial symmetric matrix which is completable to a correlation matrix and whose entries are specified at the positions of the edges of $G$, can be completed to a matrix in the convex

Algorithm of reducing the false positives in IDS based on correlation Analysis

Science.gov (United States)

Liu, Jianyi; Li, Sida; Zhang, Ru

2018-03-01

This paper proposes an algorithm of reducing the false positives in IDS based on correlation Analysis. Firstly, the algorithm analyzes the distinguishing characteristics of false positives and real alarms, and preliminary screen the false positives; then use the method of attribute similarity clustering to the alarms and further reduces the amount of alarms; finally, according to the characteristics of multi-step attack, associated it by the causal relationship. The paper also proposed a reverse causation algorithm based on the attack association method proposed by the predecessors, turning alarm information into a complete attack path. Experiments show that the algorithm simplifies the number of alarms, improve the efficiency of alarm processing, and contribute to attack purposes identification and alarm accuracy improvement.

Hierarchical structure of genetic distances: Effects of matrix size, spatial distribution and correlation structure among gene frequencies

Directory of Open Access Journals (Sweden)

Flávia Melo Rodrigues

1998-06-01

Full Text Available Geographic structure of genetic distances among local populations within species, based on allozyme data, has usually been evaluated by estimating genetic distances clustered with hierarchical algorithms, such as the unweighted pair-group method by arithmetic averages (UPGMA. The distortion produced in the clustering process is estimated by the cophenetic correlation coefficient. This hierarchical approach, however, can fail to produce an accurate representation of genetic distances among populations in a low dimensional space, especially when continuous (clinal or reticulate patterns of variation exist. In the present study, we analyzed 50 genetic distance matrices from the literature, for animal taxa ranging from Platyhelminthes to Mammalia, in order to determine in which situations the UPGMA is useful to understand patterns of genetic variation among populations. The cophenetic correlation coefficients, derived from UPGMA based on three types of genetic distance coefficients, were correlated with other parameters of each matrix, including number of populations, loci, alleles, maximum geographic distance among populations, relative magnitude of the first eigenvalue of covariance matrix among alleles and logarithm of body size. Most cophenetic correlations were higher than 0.80, and the highest values appeared for Nei's and Rogers' genetic distances. The relationship between cophenetic correlation coefficients and the other parameters analyzed was defined by an "envelope space", forming triangles in which higher values of cophenetic correlations are found for higher values in the parameters, though low values do not necessarily correspond to high cophenetic correlations. We concluded that UPGMA is useful to describe genetic distances based on large distance matrices (both in terms of elevated number of populations or alleles, when dimensionality of the system is low (matrices with large first eigenvalues or when local populations are separated

Invited review: Opportunities for genetic improvement of metabolic diseases.

Science.gov (United States)

Pryce, J E; Parker Gaddis, K L; Koeck, A; Bastin, C; Abdelsayed, M; Gengler, N; Miglior, F; Heringstad, B; Egger-Danner, C; Stock, K F; Bradley, A J; Cole, J B

2016-09-01

Metabolic disorders are disturbances to one or more of the metabolic processes in dairy cattle. Dysfunction of any of these processes is associated with the manifestation of metabolic diseases or disorders. In this review, data recording, incidences, genetic parameters, predictors, and status of genetic evaluations were examined for (1) ketosis, (2) displaced abomasum, (3) milk fever, and (4) tetany, as these are the most prevalent metabolic diseases where published genetic parameters are available. The reported incidences of clinical cases of metabolic disorders are generally low (less than 10% of cows are recorded as having a metabolic disease per herd per year or parity/lactation). Heritability estimates are also low and are typically less than 5%. Genetic correlations between metabolic traits are mainly positive, indicating that selection to improve one of these diseases is likely to have a positive effect on the others. Furthermore, there may also be opportunities to select for general disease resistance in terms of metabolic stability. Although there is inconsistency in published genetic correlation estimates between milk yield and metabolic traits, selection for milk yield may be expected to lead to a deterioration in metabolic disorders. Under-recording and difficulty in diagnosing subclinical cases are among the reasons why interest is growing in using easily measurable predictors of metabolic diseases, either recorded on-farm by using sensors and milk tests or off-farm using data collected from routine milk recording. Some countries have already initiated genetic evaluations of metabolic disease traits and currently most of these use clinical observations of disease. However, there are opportunities to use clinical diseases in addition to predictor traits and genomic information to strengthen genetic evaluations for metabolic health in the future. Copyright © 2016 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Molecular genetics of growth hormone deficient children: correlation with auxology and response to first year of growth hormone therapy.

Science.gov (United States)

Khadilkar, Vaman; Phadke, Nikhil; Khatod, Kavita; Ekbote, Veena; Gupte, Supriya Phanse; Nadar, Ruchi; Khadilkar, Anuradha

2017-05-24

With the paucity of available literature correlating genetic mutation and response to treatment, we aimed to study the genetic makeup of children with growth hormone (GH) deficiency in Western India and correlate the mutation with auxology and response to GH treatment at end of 1 year. Fifty-three (31 boys and 22 girls) children with severe short stature (height for age z-score imaging (MRI) brain scan was done in all. Genetic mutations were tested for in GH1, GHRH, LHX3, LHX4 and PROP1, POU1F1 and HESX1 genes. Mean age at presentation was 9.7±5.1 years. Thirty-seven children (Group A) had no genetic mutation detected. Six children (Group B) had mutations in the GH releasing hormone receptor (GHRHR) gene, while eight children (Group C) had mutation in the GH1 gene. In two children, one each had a mutation in PROP1 and LHX3. There was no statistically significant difference in baseline height, weight and BMI for age z-score and height velocity for age z-score (HVZ). HVZ was significantly lower, post 1 year GH treatment in the group with homozygous GH1 deletion than in children with no genetic defect. Response to GH at the end of 1 year was poor in children with the homozygous GH1 deletion as compared to those with GHRHR mutation or without a known mutation.

On bounded rank positive semidefinite matrix completions of extreme partial correlation matrices.

NARCIS (Netherlands)

M. Eisenberg-Nagy (Marianna); M. Laurent (Monique); A. Varvitsiotis (Antonios)

2012-01-01

htmlabstractWe study a new geometric graph parameter egd(G), defined as the smallest integer r ≥ 1 for which any partial symmetric matrix which is completable to a correlation matrix and whose entries are specified at the positions of the edges of G, can be completed to a matrix in the convex hull

Correlation among genetic variations of c-MET in Chinese patients with non-small cell lung cancer.

Science.gov (United States)

Duan, Jianchun; Yang, Xiaodan; Zhao, Jun; Zhuo, Minglei; Wang, Zhijie; An, Tongtong; Bai, Hua; Wang, Jie

2018-01-05

The purpose of our research was to determine the correlation of amplification, protein expression and somatic mutation of c-MET in IIIb-IV stage NSCLC (Non-small cell lung cancer). We also explored correlation of c-MET variation with clinical outcome. c-MET expression was observed in 28.6% (56/196) cases, and among those 13.8% (27/196) were shown to be FISH positive. Only 2.67% patients in this study carried the c-MET mutation. Cases with c-MET FISH positive were all IHC positive ,but in IHC positive cases, only half were FISH positive. Among patients with IHC 2+ staining, 35.5% was FISH positive, while cases with IHC 3+ staining,64% was FISH positive. Both protein expression and copy number of c-MET did not significantly correlate with clinical prognosis in these patients treated with EGFR-TKIs. IHC could be used as a preliminary screening method for c-MET copy number amplification and should be confirmed by FISH only in IHC positive case which facilitate selection of ALK or MET inhibitor therapy. c-MET gene copy number, protein expression and somatic mutation for exon 14 were detected by fluorescent- In-Situ -Hybridization (FISH), Immunohistochemistry (IHC), and Denaturing-High-Performance-Liquid-Chromatography (DHPLC), respectively, in 196 NSCLC patients. The relationship between c-MET abnormalities and clinical outcome of targeted therapy was analyzed by McNemar's test.

A Continuous Correlated Beta Process Model for Genetic Ancestry in Admixed Populations.

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Gompert, Zachariah

2016-01-01

Admixture and recombination create populations and genomes with genetic ancestry from multiple source populations. Analyses of genetic ancestry in admixed populations are relevant for trait and disease mapping, studies of speciation, and conservation efforts. Consequently, many methods have been developed to infer genome-average ancestry and to deconvolute ancestry into continuous local ancestry blocks or tracts within individuals. Current methods for local ancestry inference perform well when admixture occurred recently or hybridization is ongoing, or when admixture occurred in the distant past such that local ancestry blocks have fixed in the admixed population. However, methods to infer local ancestry frequencies in isolated admixed populations still segregating for ancestry do not exist. In the current paper, I develop and test a continuous correlated beta process model to fill this analytical gap. The method explicitly models autocorrelations in ancestry frequencies at the population-level and uses discriminant analysis of SNP windows to take advantage of ancestry blocks within individuals. Analyses of simulated data sets show that the method is generally accurate such that ancestry frequency estimates exhibited low root-mean-square error and were highly correlated with the true values, particularly when large (±10 or ±20) SNP windows were used. Along these lines, the proposed method outperformed post hoc inference of ancestry frequencies from a traditional hidden Markov model (i.e., the linkage model in structure), particularly when admixture occurred more distantly in the past with little on-going gene flow or was followed by natural selection. The reliability and utility of the method was further assessed by analyzing genetic ancestry in an admixed human population (Uyghur) and three populations from a hybrid zone between Mus domesticus and M. musculus. Considerable variation in ancestry frequencies was detected within and among chromosomes in the Uyghur

Ethics of genetic testing and research in sport: a position statement from the Australian Institute of Sport.

Science.gov (United States)

Vlahovich, Nicole; Fricker, Peter A; Brown, Matthew A; Hughes, David

2017-01-01

As Australia's peak high-performance sport agency, the Australian Institute of Sport (AIS) has developed this position statement to address the implications of recent advances in the field of genetics and the ramifications for the health and well-being of athletes. Genetic testing has proven of value in the practice of clinical medicine. There are, however, currently no scientific grounds for the use of genetic testing for athletic performance improvement, sport selection or talent identification. Athletes and coaches should be discouraged from using direct-to-consumer genetic testing because of its lack of validation and replicability and the lack of involvement of a medical practitioner in the process. The transfer of genetic material or genetic modification of cells for performance enhancement is gene doping and should not be used on athletes. There are, however, valid roles for genetic research and the AIS supports genetic research which aims to enhance understanding of athlete susceptibility to injury or illness. Genetic research is only to be conducted after careful consideration of a range of ethical concerns which include the provision of adequate informed consent. The AIS is committed to providing leadership in delivering an ethical framework that protects the well-being of athletes and the integrity of sport, in the rapidly changing world of genomic science. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Robust Correlation Analyses: False Positive and Power Validation Using a New Open Source Matlab Toolbox

Science.gov (United States)

Pernet, Cyril R.; Wilcox, Rand; Rousselet, Guillaume A.

2012-01-01

Pearson’s correlation measures the strength of the association between two variables. The technique is, however, restricted to linear associations and is overly sensitive to outliers. Indeed, a single outlier can result in a highly inaccurate summary of the data. Yet, it remains the most commonly used measure of association in psychology research. Here we describe a free Matlab(R) based toolbox (http://sourceforge.net/projects/robustcorrtool/) that computes robust measures of association between two or more random variables: the percentage-bend correlation and skipped-correlations. After illustrating how to use the toolbox, we show that robust methods, where outliers are down weighted or removed and accounted for in significance testing, provide better estimates of the true association with accurate false positive control and without loss of power. The different correlation methods were tested with normal data and normal data contaminated with marginal or bivariate outliers. We report estimates of effect size, false positive rate and power, and advise on which technique to use depending on the data at hand. PMID:23335907

Robust correlation analyses: false positive and power validation using a new open source matlab toolbox.

Science.gov (United States)

Pernet, Cyril R; Wilcox, Rand; Rousselet, Guillaume A

2012-01-01

Pearson's correlation measures the strength of the association between two variables. The technique is, however, restricted to linear associations and is overly sensitive to outliers. Indeed, a single outlier can result in a highly inaccurate summary of the data. Yet, it remains the most commonly used measure of association in psychology research. Here we describe a free Matlab((R)) based toolbox (http://sourceforge.net/projects/robustcorrtool/) that computes robust measures of association between two or more random variables: the percentage-bend correlation and skipped-correlations. After illustrating how to use the toolbox, we show that robust methods, where outliers are down weighted or removed and accounted for in significance testing, provide better estimates of the true association with accurate false positive control and without loss of power. The different correlation methods were tested with normal data and normal data contaminated with marginal or bivariate outliers. We report estimates of effect size, false positive rate and power, and advise on which technique to use depending on the data at hand.

Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed.

Science.gov (United States)

Posthuma, Daniëlle; Baaré, Wim F C; Hulshoff Pol, Hilleke E; Kahn, René S; Boomsma, Dorret I; De Geus, Eco J C

2003-04-01

We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization, Processing Speed) are also related to gray and white matter volume, and whether any of the dimensions are related to cerebellar volume. Two overlapping samples provided 135 subjects from 60 extended twin families for whom both MRI scans and WAIS III data were available. All three brain volumes are related to Working Memory capacity (r = 0.27). This phenotypic correlation is completely due to a common underlying genetic factor. Processing Speed was genetically related to white matter volume (r(g) = 0.39). Perceptual Organization was both genetically (r(g) = 0.39) and environmentally (r(e) = -0.71) related to cerebellar volume. Verbal Comprehension was not related to any of the three brain volumes. It is concluded that brain volumes are genetically related to intelligence which suggests that genes that influence brain volume may also be important for intelligence. It is also noted however, that the direction of causation (i.e., do genes influence brain volume which in turn influences intelligence, or alternatively, do genes influence intelligence which in turn influences brain volume), or the presence or absence of pleiotropy has not been resolved yet.

Identifying Associations Between Brain Imaging Phenotypes and Genetic Factors via A Novel Structured SCCA Approach.

Science.gov (United States)

Du, Lei; Zhang, Tuo; Liu, Kefei; Yan, Jingwen; Yao, Xiaohui; Risacher, Shannon L; Saykin, Andrew J; Han, Junwei; Guo, Lei; Shen, Li

2017-06-01

Brain imaging genetics attracts more and more attention since it can reveal associations between genetic factors and the structures or functions of human brain. Sparse canonical correlation analysis (SCCA) is a powerful bi-multivariate association identification technique in imaging genetics. There have been many SCCA methods which could capture different types of structured imaging genetic relationships. These methods either use the group lasso to recover the group structure, or employ the graph/network guided fused lasso to find out the network structure. However, the group lasso methods have limitation in generalization because of the incomplete or unavailable prior knowledge in real world. The graph/network guided methods are sensitive to the sign of the sample correlation which may be incorrectly estimated. We introduce a new SCCA model using a novel graph guided pairwise group lasso penalty, and propose an efficient optimization algorithm. The proposed method has a strong upper bound for the grouping effect for both positively and negatively correlated variables. We show that our method performs better than or equally to two state-of-the-art SCCA methods on both synthetic and real neuroimaging genetics data. In particular, our method identifies stronger canonical correlations and captures better canonical loading profiles, showing its promise for revealing biologically meaningful imaging genetic associations.

Cooperativity Leads to Temporally-Correlated Fluctuations in the Bacteriophage Lambda Genetic Switch

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Jacob Quinn Shenker

2015-04-01

Full Text Available Cooperative interactions are widespread in biochemical networks, providing the nonlinear response that underlies behavior such as ultrasensitivity and robust switching. We introduce a temporal correlation function—the conditional activity—to study the behavior of these phenomena. Applying it to the bistable genetic switch in bacteriophage lambda, we find that cooperative binding between binding sites on the prophage DNA lead to non-Markovian behavior, as quantified by the conditional activity. Previously, the conditional activity has been used to predict allosteric pathways in proteins; here, we show that it identifies the rare unbinding events which underlie induction from lysogeny to lysis.

A position-sensitive scintillation detector for two-dimensional angular correlation of annihilation radiation using metal-package position-sensitive photomultiplier tubes

International Nuclear Information System (INIS)

Inoue, Koji; Nagai, Yasuyoshi; Saito, Haruo; Nagashima, Yasuyuki; Hyodo, Toshio; Muramatsu, Shinichi; Nagai, Shota

1999-01-01

We have constructed and tested a prototype of a new position sensitive γ-ray detector which consists of an array of 2.6x2.6x18 mm 3 BGO scintillator blocks, a light guide, and four metal-package position-sensitive photomultiplier tubes (R5900-00-C8) recently developed by Hamamatsu Photonics Co. Ltd. Scalability of the detector of this type makes it possible to construct a larger detector using many PS-PMTs, which will be useful for the two-dimensional angular correlation of annihilation radiation apparatus

Novel base-pairing interactions at the tRNA wobble position crucial for accurate reading of the genetic code

Science.gov (United States)

Rozov, Alexey; Demeshkina, Natalia; Khusainov, Iskander; Westhof, Eric; Yusupov, Marat; Yusupova, Gulnara

2016-01-01

Posttranscriptional modifications at the wobble position of transfer RNAs play a substantial role in deciphering the degenerate genetic code on the ribosome. The number and variety of modifications suggest different mechanisms of action during messenger RNA decoding, of which only a few were described so far. Here, on the basis of several 70S ribosome complex X-ray structures, we demonstrate how Escherichia coli tRNALysUUU with hypermodified 5-methylaminomethyl-2-thiouridine (mnm5s2U) at the wobble position discriminates between cognate codons AAA and AAG, and near-cognate stop codon UAA or isoleucine codon AUA, with which it forms pyrimidine-pyrimidine mismatches. We show that mnm5s2U forms an unusual pair with guanosine at the wobble position that expands general knowledge on the degeneracy of the genetic code and specifies a powerful role of tRNA modifications in translation. Our models consolidate the translational fidelity mechanism proposed previously where the steric complementarity and shape acceptance dominate the decoding mechanism.

Comorbid behavioural problems in Tourette's syndrome are positively correlated with the severity of tic symptoms.

Science.gov (United States)

Zhu, Yan; Leung, Kai Man; Liu, Po-zi; Zhou, Ming; Su, Lin-yan

2006-01-01

We studied the comorbid behavioural and mood problems in children with non-psychiatric Tourette's syndrome (TS) and their relationship with severity of tic disorder. Sixty-nine TS children and 69 healthy controls were assessed by Child Behavior Checklist (CBCL) and Yale Global Tic Severity Scale (YGTSS). The relationships between behavioural problems and severity of tic symptoms were analysed statistically by comparison, correlation and multiple linear regression. Tourette's syndrome patients scored significantly lower (ptic symptoms is positively correlated with the severity of overall impairment in school and social competence. When the behavioural and mood problems commonly associated with TS were studied in detail, we found that delinquent behaviour, thought problems, attention problems, aggressive behaviour and externalizing are positively correlated with severity of tic symptoms. The findings indicated that children with TS-only also had a broad range of behavioural problems, and some of these were related to the severity of tic symptoms.

Estimation of genetic parameters and genetic trends for weight and body measurements at birth in sheep populations in Thailand

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China Supakorn

2013-02-01

Full Text Available The main objective of this study was to estimate the genetic parameters and genetic trends for birth weight (BW,heart girth (HG, and body length (BL at birth of sheep populations in Thailand. Data were collected during 1998 to 2011 fromfour livestock research and testing stations. Fixed effect testing showed that sex, herd, contemporary group and breed groupgreatly influenced on the investigated traits (P<0.05. The log likelihood ratio test showed that all traits significantly affectedby maternal additive genetic effect as well as covariance between animal effects. Estimated direct heritabilities from multivariate analysis of the model for BW, HG and BL were 0.32, 0.52 and 0.54, while estimated maternal heritabilities were 0.23,0.14 and 0.14, respectively. Positive correlations were found among direct additive genetic (0.29 to 0.97, maternal additivegenetic (0.23 to 0.95, and phenotype (0.18 to 0.96. Direct-maternal correlations within traits (-0.68 for BW, -0.92 for HG and-0.89 for BL and between traits (-0.89 to -0.08 were antagonistic effect. Direct additive genetic trends for BW, HG and BL inthe second period (2005 to 2011 were significantly increased (0.02 kg/year, 0.89 and 0.73 cm/year while maternal additivegenetic trends characteristically depicted significantly decreased (-0.01 kg/year, -0.92 and -0.72 cm/year.

Correlational study of impacted and non-functional lower third molar position with occurrence of pathologies

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Igor Batista Camargo

2016-09-01

Full Text Available Abstract Background Lower third molar (M3 eruption is unpredictable. The purpose of this study was to correlate radiographic position of M3 on a preexistent film with the current clinical, histopathological, and radiographic findings. Methods A retrospective cohort study was performed. The sample was collected from a database of patients covered by Medical Fund of Brazilian Army. Radiographs were obtained a minimum of 5 years prior to the presurgical visit and after their clinical exam. The primary outcome variables were the teeth positions using Pell and Gregory/Winter classifications on panoramic X-rays. Those variables were analyzed at both the beginning (T0 and end of the study (T1. Clinical assessments and histopathological study of the thirds that were extracted were performed only at T1. Correlation between the teeth positions were related to the clinical, histopathological, and radiographic parameters using statistical analysis tests with significance set at p < 0.05. Results Twenty-six patients with 49 M3 were assessed over 10 months. Mean age was 14.92 years at T0 and 21.87 years at T1. The average time between T0 and T1 was 6.77 years. A significant relationship (p = 0.024 was found between the presences of root resorption on the second molar if M3 presented in an IB horizontal position at T1. There was also a significant correlation (p = 0.039 between dental crowding of the anterior lower teeth with IIIB position at T0 and if the patient finished orthodontic treatment without lingual retainers. Conclusions Lower M3 in position IIIB seen in a teenager and IB seen in an adult is more likely to have negative consequences and should be followed closely.

Estimates of genetic parameters and path analysis in lentil (lens culinaris medik)

International Nuclear Information System (INIS)

Younis, N.; Hanif, M.; Sadiq, S.; Abbas, G.; Asghar, M.J.; Haq, M.A.

2008-01-01

These studies were conducted to determine the genetic parameters and character association in elite lines 0 lentil (Lens culinaris Medik).Genetic parameters like genotypic and phenotypic variances, coefficients of variation heritability, genetic advance, correlation coefficients and path coefficients were estimated. Significant variation was noted for all the traits. High heritability estimates were observed for all the traits except number of primary branches per plant. In general phenotypic coefficients of variability were greater than their corresponding genotypic coefficient of variability. Higher estimates of heritability and genetic advance were observed for seed yield (97.10%, 90.71%), harvest index (96.20%, 63.29%) and maturity days (95.90%, 63.39%) indicating the these characters are mainly controlled by additive genes and selection of such traits might be effective for the improvement of seed yield. Days to flower, plant height, number of primary branches, biological yield, harvest index and hundred seed weight had positive direct effect on seed yield. Biological yield, hundred seed weight and harvest index also had positive and highly significant genotypic and phenotypic correlation with seed yield. Hence these traits could be used for the improvement of seed yield resulting in the evolution of high yielding varieties 0 lentil. (author)

Genetic diversity and relationship of Hedychium from Northeast India as dissected using PCA analysis and hierarchical clustering.

Science.gov (United States)

Basak, Supriyo; Ramesh, Aadi Moolam; Kesari, Vigya; Parida, Ajay; Mitra, Sudip; Rangan, Latha

2014-12-01

Molecular genetic fingerprints of eleven Hedychium species from Northeast India were developed using PCR based markers. Fifteen inter-simple sequence repeats (ISSRs) and five amplified fragment length polymorphism (AFLP) primers produced 547 polymorphic fragments. Positive correlation (r = 0.46) was observed between the mean genetic similarity and genetic diversity parameters at the inter-species level. AFLP and ISSR markers were able to group the species according to its altitude and intensity of flower aroma. Cophenetic correlation coefficients between the dendrogram and the original similarity matrix were significant for ISSR (r = 0.89) compared to AFLP (r = 0.83) markers. This genetic characterization of Hedychium from Northeast India contributes to the knowledge of genetic structure of the species and can be used to define strategies for their conservation and management.

Genetic analysis of a red tilapia (Oreochromis spp.) population undergoing three generations of selection for increased body weight at harvest.

Science.gov (United States)

Hamzah, Azhar; Thoa, Ngo Phu; Nguyen, Nguyen Hong

2017-11-01

Quantitative genetic analysis was performed on 10,919 data records collected over three generations from the selection programme for increased body weight at harvest in red tilapia (Oreochromis spp.). They were offspring of 224 sires and 226 dams (50 sires and 60 dams per generation, on average). Linear mixed models were used to analyse body traits (weight, length, width and depth), whereas threshold generalised models assuming probit distribution were employed to examine genetic inheritance of survival rate, sexual maturity and body colour. The estimates of heritability for traits studied (body weight, standard length, body width, body depth, body colour, early sexual maturation and survival) across statistical models were moderate to high (0.13-0.45). Genetic correlations among body traits and survival were high and positive (0.68-0.96). Body length and width exhibited negative genetic correlations with body colour (- 0.47 to - 0.25). Sexual maturity was genetically correlated positively with measurements of body traits (weight and length). Direct and correlated genetic responses to selection were measured as estimated breeding values in each generation and expressed in genetic standard deviation units (σ G ). The cumulative improvement achieved for harvest body weight was 1.72 σ G after three generations or 12.5% per generation when the gain was expressed as a percentage of the base population. Selection for improved body weight also resulted in correlated increase in other body traits (length, width and depth) and survival rate (ranging from 0.25 to 0.81 genetic standard deviation units). Avoidance of black spot parent matings also improved the overall red colour of the selected population. It is concluded that the selective breeding programme for red tilapia has succeeded in achieving significant genetic improvement for a range of commercially important traits in this species, and the large genetic variation in body colour and survival also shows that

No Correlation between Distorted Body Representations Underlying Tactile Distance Perception and Position Sense

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Matthew R. Longo

2016-11-01

Full Text Available Both tactile distance perception and position sense are believed to require that immediate afferent signals be referenced to a stored representation of body size and shape (the body model. For both of these abilities, recent studies have reported that the stored body representations involved are highly distorted, at least in the case of the hand, with the hand dorsum represented as wider and squatter than it actually is. Here, we investigated whether individual differences in the magnitude of these distortions are shared between tactile distance perception and position sense, as would be predicted by the hypothesis that a single distorted body model underlies both tasks. We used established task to measure distortions of the represented shape of the hand dorsum. Consistent with previous results, in both cases there were clear biases to overestimate distances oriented along the medio-lateral axis of the hand compared to the proximo-distal axis. Moreover, within each task there were clear split-half correlations, demonstrating that both tasks show consistent individual differences. Critically, however, there was no correlation between the magnitudes of distortion in the two tasks. This casts doubt on the proposal that a common body model underlies both tactile distance perception and position sense.

Experience of Early Childhood Caries May Positively Correlate with Psychomotor Development.

Science.gov (United States)

Liang, Chen-Yi; Liu, Yen-Chun; Shieh, Tien-Yu; Lin, Jia-Rong; Tseng, Yi-Chun; Teng, Andy Yen-Tung

2015-01-01

To examine the as yet unknown relationship between dental caries and the child's psychomotor development. A cross-sectional study was designed by screening the kindergartens from urban areas of two cities in southern Taiwan. Besides the personal, demographic and dietary information, the common measures for caries (dmft) and the amended comprehensive scales (CCDI) for psychomotor development were used to assess their relationship(s). A power analysis showed that 334 subjects would be required. One-way ANOVA vs multiple linear regression analysis were used to compare the differences of variables between gender, age and dmft scales, vs the relationship among all variables tested, respectively. A total of 433 children completed the study. The results demonstrated that there was a positive relationship between higher (i.e. dmft≥4 and 5) but not lower or extremely high caries experience and aspects of psychomotor development (i.e. personal-social and expressive language) in children aged 4 to 6 years. The present results are important for paediatric dentists, as they suggest a positive correlation between caries experience (dmft 3 to 6) and psychomotor development in pre-school children and that such a correlation may occur more significantly as an attribute of the most affected teeth (incisors and molars) during the critical stage of personal-social and expressive language development (speech-communication).

High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients

DEFF Research Database (Denmark)

Gjesing, Anette Marianne Prior; Hornbak, Malene; Allin, Kristine H.

2014-01-01

∈±∈SE: 0.49∈±∈0.14) and beta cell responsiveness to glucose (h 2∈±∈SE: 0.66∈±∈0.12). Additionally, strong genetic correlations were found between measures of beta cell response after glucose and tolbutamide stimulation, with correlation coefficients ranging from 0.77 to 0.88. Furthermore, we identified......Aims/hypothesis: The aim of this study was to estimate the heritability of quantitative measures of glucose regulation obtained from a tolbutamide-modified frequently sampled IVGTT (t-FSIGT) and to correlate the heritability of the glucose-stimulated beta cell response to the tolbutamide...... after tolbutamide (DIT), insulin sensitivity (SI), glucose effectiveness (SG) and beta cell responsiveness to glucose were calculated. A polygenic variance component model was used to estimate heritability, genetic correlations and associations. Results: We found high heritabilities for acute insulin...

Environmental and genetic effects on growth in Timahdite and crossbred lambs in Morocco

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M. El Fadili

2000-01-01

Full Text Available Knowledge of genetic parameters for growth traits of economic importance is required for the development of sheep populations in Morocco. Records on 544 lambs of the Timahdite (T breed and of 756 D'man x Timahdite (DT lambs, all born from 1992 to 1998, were used to estimate genetic parameters for lamb weights at birth, at 30, 70 and 90 days and daily gains from 10-30 days, 30-70 days and 30-90 days for each trait. Separate REML (covariance component estimates were obtained assuming animal models that included the fixed effects of birth year, sex, age of dam, birth type or rearing types and the interaction of birth year by sex, the animal direct genetic effect and the maternal genetic effect. Genetic and phenotypic correlations between traits were estimated with models including the same fixed effects and only additive direct genetic effects. All fixed effects influenced growth traits. The direct heritability estimates for the various body weight and daily gain traits were low to medium and varied between 0.07 and 0.25 in T, and between 0.02 and 0.18 in DT. Maternal heritability ranged from 0.20 to 0.36 in DT, and from 0.01 to 0.10 in T lambs, except for the birth weight (0.53. For all traits the direct and maternal genetic correlations were high and negative in DT (-0.80 and -1.00 and in T (-0.90 and -1.00 lambs. However, the accuracy of such estimates is low due to the small data set used in the present study. The estimates of genetic and phenotypic correlations were positive for all traits, they were particularly high for genetic correlations between weights and weight gains after birth, both in DT and T lambs, and they showed no genetic antagonisms among the growth traits.

Genetic variability, trait association and path analysis of yield and yield components in mungbean (vigna radiata (L.) wilczek)

International Nuclear Information System (INIS)

Tabasum, A.; Saleem, M.; Aziz, I.

2010-01-01

Genetic variability, heritability along with genetic advance of traits, their association and direct and indirect effects on yield are essential for crop improvement. Ten mungbean genotypes were studied to assess variability and degree to which various plant traits associate with seed yield. Primary and secondary branches, pods per cluster and pod length showed lesser variability while clusters per plant, 100 seed weight and harvest index exhibited intermediate range of variability. Sufficient genetic variability was observed for plant height, pods per plant, total plant weight and seed yield. Moderate to high heritability estimates were found for all traits. Primary and secondary branches per plant, pod length and 100-seed weight exhibited negative and non significant genotypic and phenotypic correlations with seed yield. Plant height showed positive non-significant and significant genotypic and phenotypic correlation. Pods per cluster correlated significantly negative with seed yield. Clusters per plant, pods per plant, total plant weight and harvest index showed positive significant genotypic and phenotypic correlations with seed yield. Positive direct effects were exerted through secondary branches, pods per plant, pod length, 100 seed weight, total plant weight and harvest index while primary branches, plant height, clusters per plant and pods per cluster had negative direct effects. The present findings could be useful for establishing selection criteria for high seed yield in the mungbean breeding. (author)

Positive correlation between retinol binding protein 4 (RBP4) and triglyceride level in central obesity

Science.gov (United States)

Oktaria, S.; Sari, D. K.; Dalimunthe, D.; Eyanoer, P. C.

2018-03-01

Obesity has become an epidemic in both developed and developing countries. Central obesity considered a risk factor that is closely related to several chronic diseases. Central obesity is associated with elevated triglyceride levels and associated with RBP4 which can lead to insulin resistance. Increased level of RBP4 can cause lipid metabolism disorders and can become a marker for insulin resistance and metabolic syndrome. This study aims to find the correlation of RBP4 with triglycerides and Apo B100 in central obesity. It was a cross- sectional study on 46 subjects with central obesity, aged 20-50 years old. Blood samples were taken in cubital vein and examined for RBP4 and triglyceride levels. Data analysis was performed using Spearman correlation test. The results showed that gender frequency distribution showed little difference between men and women, i. e., men 43.5% and women 56.5%. RBP4 level was positively correlated with triglyceride (r = 0.48) and statistically significant (p = 0.001). The rbp4 level was positively correlated with triglyceride, indicating the role of RBP4 on high triglyceride level in central obesity.

Correlation of cancer incidence with diet, smoking and socio- economic position across 22 districts of Tehran in 2008.

Science.gov (United States)

Rohani-Rasaf, Marzieh; Abdollahi, Morteza; Jazayeri, Shima; Kalantari, Naser; Asadi-Lari, Mohsen

2013-01-01

Variation in cancer incidence in geographical locations is due to different lifestyles and risk factors. Diet and socio-economic position (SEP) have been identified as important for the etiology of cancer but patterns are changing and inconsistent. The aim of this study was to investigate correlations of the incidence of common cancers with food groups, total energy, smoking, and SEP. In an ecological study, disaggregated cancer data through the National Cancer Registry in Iran (2008) and dietary intake, smoking habits and SEP obtained through a population based survey within the Urban Health Equity Assessment (Urban-HEART) project were correlated across 22 districts of Tehran. Consumption of fruit, meat and dairy products adjusted for energy were positively correlated with bladder, colorectal, prostate and breast and total cancers in men and women, while these cancers were adversely correlated with bread and fat intake. Also prostate, breast, colorectal, bladder and ovarian cancers had a positive correlation with SEP; there was no correlation between SEP and skin cancer in both genders and stomach cancer in men. The incidence of cancer was higher in some regions of Tehran which appeared to be mainly determined by SEP rather than dietary intake. Further individual data are required to investigate reasons of cancer clustering.

Genetic correlations of clinical mastitis and feet and legs problems with milk yield and type traits in Dutch Black and White dairy cattle.

NARCIS (Netherlands)

Groen, A.F.; Hellinga, I.; Oldenbroek, J.K.

1994-01-01

Direct selection for decreased disease incidence is difficult given low hsuperscript 2s and the absence of disease recording. Genetic correlations between diseases and type traits indicate possibilities for indirect selection; however, correlations often include experimentally instead of routinely

Environmental heterogeneity explains the genetic structure of Continental and Mediterranean populations of Fraxinus angustifolia Vahl.

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Martina Temunović

Full Text Available Tree species with wide distributions often exhibit different levels of genetic structuring correlated to their environment. However, understanding how environmental heterogeneity influences genetic variation is difficult because the effects of gene flow, drift and selection are confounded. We investigated the genetic variation and its ecological correlates in a wind-pollinated Mediterranean tree species, Fraxinus angustifolia Vahl, within a recognised glacial refugium in Croatia. We sampled 11 populations from environmentally divergent habitats within the Continental and Mediterranean biogeographical regions. We combined genetic data analyses based on nuclear microsatellite loci, multivariate statistics on environmental data and ecological niche modelling (ENM. We identified a geographic structure with a high genetic diversity and low differentiation in the Continental region, which contrasted with the significantly lower genetic diversity and higher population divergence in the Mediterranean region. The positive and significant correlation between environmental and genetic distances after controlling for geographic distance suggests an important influence of ecological divergence of the sites in shaping genetic variation. The ENM provided support for niche differentiation between the populations from the Continental and Mediterranean regions, suggesting that contemporary populations may represent two divergent ecotypes. Ecotype differentiation was also supported by multivariate environmental and genetic distance analyses. Our results suggest that despite extensive gene flow in continental areas, long-term stability of heterogeneous environments have likely promoted genetic divergence of ashes in this region and can explain the present-day genetic variation patterns of these ancient populations.

Sociotropic personality traits positively correlate with the severity of social anxiety

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Nurhan Fistikci

2015-05-01

Full Text Available Aim. To investigate sociotropic-autonomic personality characteristics and their clinical implications in social anxiety disorder (SAD.  Methods. The study included 68 consecutive patients who were either being followed up on an outpatient basis or presented for the first time to the psychiatric clinics of Bakirkoy Research and Training Hospital for Psychiatry, Neurology and Neurosurgery or Trakya University School of Medicine between May 2012 and May 2013, and were diagnosed primarily with generalised SAD according to Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV diagnostic criteria. Beck Depression Inventory (BDI, Sociotropy-Autonomy Scale (SAS, Symptom Checklist-90-R (SCL-90-R, Liebowitz Social Anxiety Scale (LSAS and a sociodemographic data collection form designed by the authors were used as primary assessment instruments.  Results. The mean age (standard deviation (SD of the sample group was 23.73 (8.85 years; 37 (54.4% were female and 31 (45.6% were male. LSAS mean (SD total fear score was 63.51 (13.74, mean total avoidance score was 61.24 (14.26, BDI mean score was 16.99 (9.58, SAS mean sociotropy score was 71.06 (16.79, and mean autonomy score was 63.22 (16.04. A statistically significant positive correlation was found between SAS sociotropy scores and LSAS fear and avoidance total scores, BDI scores and all subscales of SCL-90-R (p0.05.  Conclusion. Sociotropic personality characteristics in patients with SAD have been found to positively correlate with depression and social anxiety levels. Addressing this finding during treatment sessions and helping the patient increase flexibility in appraisal of social life events may have a positive impact on treatment outcome.

Genetic parameters for carcass weight, conformation and fat in five beef cattle breeds.

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Kause, A; Mikkola, L; Strandén, I; Sirkko, K

2015-01-01

Profitability of beef production can be increased by genetically improving carcass traits. To construct breeding value evaluations for carcass traits, breed-specific genetic parameters were estimated for carcass weight, carcass conformation and carcass fat in five beef cattle breeds in Finland (Hereford, Aberdeen Angus, Simmental, Charolais and Limousin). Conformation and fat were visually scored using the EUROP carcass classification. Each breed was separately analyzed using a multitrait animal model. A total of 6879-19 539 animals per breed had phenotypes. For the five breeds, heritabilities were moderate for carcass weight (h 2=0.39 to 0.48, s.e.=0.02 to 0.04) and slightly lower for conformation (h 2=0.30 to 0.44, s.e.=0.02 to 0.04) and carcass fat (h 2=0.29 to 0.44, s.e.=0.02 to 0.04). The genetic correlation between carcass weight and conformation was favorable in all breeds (r G=0.37 to 0.53, s.e.=0.04 to 0.05), heavy carcasses being genetically more conformed. The phenotypic correlation between carcass weight and carcass fat was moderately positive in all breeds (r P=0.21 to 0.32), implying that increasing carcass weight was related to increasing fat levels. The respective genetic correlation was the strongest in Hereford (r G=0.28, s.e.=0.05) and Angus (r G=0.15, s.e.=0.05), the two small body-sized British breeds with the lowest conformation and the highest fat level. The correlation was weaker in the other breeds (r G=0.08 to 0.14). For Hereford, Angus and Simmental, more conformed carcasses were phenotypically fatter (r P=0.11 to 0.15), but the respective genetic correlations were close to zero (r G=-0.05 to 0.04). In contrast, in the two large body-sized and muscular French breeds, the genetic correlation between conformation and fat was negative and the phenotypic correlation was close to zero or negative (Charolais: r G=-0.18, s.e.=0.06, r P=0.02; Limousin: r G=-0.56, s.e.=0.04, r P=-0.13). The results indicate genetic variation for the genetic

Sensation seeking, peer deviance, and genetic influences on adolescent delinquency: Evidence for person-environment correlation and interaction.

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Mann, Frank D; Patterson, Megan W; Grotzinger, Andrew D; Kretsch, Natalie; Tackett, Jennifer L; Tucker-Drob, Elliot M; Harden, K Paige

2016-07-01

Both sensation seeking and affiliation with deviant peer groups are risk factors for delinquency in adolescence. In this study, we use a sample of adolescent twins (n = 549), 13 to 20 years old (M age = 15.8 years), in order to test the interactive effects of peer deviance and sensation seeking on delinquency in a genetically informative design. Consistent with a socialization effect, affiliation with deviant peers was associated with higher delinquency even after controlling for selection effects using a co-twin-control comparison. At the same time, there was evidence for person-environment correlation; adolescents with genetic dispositions toward higher sensation seeking were more likely to report having deviant peer groups. Genetic influences on sensation seeking substantially overlapped with genetic influences on adolescent delinquency. Finally, the environmentally mediated effect of peer deviance on adolescent delinquency was moderated by individual differences in sensation seeking. Adolescents reporting high levels of sensation seeking were more susceptible to deviant peers, a Person × Environment interaction. These results are consistent with both selection and socialization processes in adolescent peer relationships, and they highlight the role of sensation seeking as an intermediary phenotype for genetic risk for delinquency. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Knowledge of genetic correlations is essential to understand the joint evolution of traits through correlated responses to selection, a difficult and seldom, very precise task even with easy-to-breed species. Here, a simulation-based method to estimate genetic correlations and genetic covariances that relies only on ...

Genetic parameters for claw disorders in Dutch dairy cattle and correlations with conformation traits.

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van der Waaij, E H; Holzhauer, M; Ellen, E; Kamphuis, C; de Jong, G

2005-10-01

Impaired claw health is one of the major problems causing production loss and reduced animal welfare in dairy cattle. In response, the Dutch Animal Health Service (GD) Ltd. initiated this study, in which claws of lactating and near-term cows and heifers in 430 herds were trimmed by hoof trimmers and the health status of the rear claws recorded. Only herds with >75% of the animals having feet trimmed were considered, resulting in records on 21,611 animals. Eight claw disorders were scored: digital dermatitis (DD), interdigital dermatitis/heel horn erosions (IDHE), sole hemorrhage (SH), chronic laminitis (CL), sole ulcer (SU), white line disease (WLD), interdigital hyperplasia (HYP), and interdigital phlegmona (IP). The prevalence varied from 0.6% (IP) to 39.9% (SH). More than 70% of the animals had at least one claw disorder. Conformation traits and locomotion were recorded once during the animal's first lactation by trained classifiers of the Royal Dutch Cattle Syndicate and completely independent of the moment of claw trimming. Heritabilities were estimated using a sire model, and ranged from <0.01 (IP) to 0.10 (DD and HYP). Genetic correlations of incidences of claw disorders with locomotion were variable, ranging from 0.13 (SH) to -0.91 (CL). Genetic correlations with the rear leg conformation traits were lower, ranging from 0.04 (ID with rear leg side view) to -0.69 (IP with rear leg rear view).

A Continuous Correlated Beta Process Model for Genetic Ancestry in Admixed Populations.

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Zachariah Gompert

Full Text Available Admixture and recombination create populations and genomes with genetic ancestry from multiple source populations. Analyses of genetic ancestry in admixed populations are relevant for trait and disease mapping, studies of speciation, and conservation efforts. Consequently, many methods have been developed to infer genome-average ancestry and to deconvolute ancestry into continuous local ancestry blocks or tracts within individuals. Current methods for local ancestry inference perform well when admixture occurred recently or hybridization is ongoing, or when admixture occurred in the distant past such that local ancestry blocks have fixed in the admixed population. However, methods to infer local ancestry frequencies in isolated admixed populations still segregating for ancestry do not exist. In the current paper, I develop and test a continuous correlated beta process model to fill this analytical gap. The method explicitly models autocorrelations in ancestry frequencies at the population-level and uses discriminant analysis of SNP windows to take advantage of ancestry blocks within individuals. Analyses of simulated data sets show that the method is generally accurate such that ancestry frequency estimates exhibited low root-mean-square error and were highly correlated with the true values, particularly when large (±10 or ±20 SNP windows were used. Along these lines, the proposed method outperformed post hoc inference of ancestry frequencies from a traditional hidden Markov model (i.e., the linkage model in structure, particularly when admixture occurred more distantly in the past with little on-going gene flow or was followed by natural selection. The reliability and utility of the method was further assessed by analyzing genetic ancestry in an admixed human population (Uyghur and three populations from a hybrid zone between Mus domesticus and M. musculus. Considerable variation in ancestry frequencies was detected within and among

Egg incubation effects generate positive correlations between size, speed and learning ability in young lizards.

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Amiel, Joshua Johnstone; Lindström, Tom; Shine, Richard

2014-03-01

Previous studies have suggested that body size and locomotor performance are targets of Darwinian selection in reptiles. However, much of the variation in these traits may derive from phenotypically plastic responses to incubation temperature, rather than from underlying genetic variation. Intriguingly, incubation temperature may also influence cognitive traits such as learning ability. Therefore, we might expect correlations between a reptile's size, locomotor speed and learning ability either due to selection on all of these traits or due to environmental effects during egg incubation. In the present study, we incubated lizard eggs (Scincidae: Bassiana duperreyi) under 'hot' and 'cold' thermal regimes and then assessed differences in hatchling body size, running speed and learning ability. We measured learning ability using a Y-maze and a food reward. We found high correlations between size, speed and learning ability, using two different metrics to quantify learning (time to solution, and directness of route), and showed that environmental effects (incubation temperature) cause these correlations. If widespread, such correlations challenge any simple interpretation of fitness advantages due to body size or speed within a population; for example, survivors may be larger and faster than nonsurvivors because of differences in learning ability, not because of their size or speed.

Egg shell quality in Japanese quail: characteristics, heritabilities and genetic and phenotypic relationships.

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Narinc, D; Aygun, A; Karaman, E; Aksoy, T

2015-07-01

The objective of the present study was to estimate heritabilities as well as genetic and phenotypic correlations for egg weight, specific gravity, shape index, shell ratio, egg shell strength, egg length, egg width and shell weight in Japanese quail eggs. External egg quality traits were measured on 5864 eggs of 934 female quails from a dam line selected for two generations. Within the Bayesian framework, using Gibbs Sampling algorithm, a multivariate animal model was applied to estimate heritabilities and genetic correlations for external egg quality traits. The heritability estimates for external egg quality traits were moderate to high and ranged from 0.29 to 0.81. The heritability estimates for egg and shell weight of 0.81 and 0.76 were fairly high. The genetic and phenotypic correlations between egg shell strength with specific gravity, shell ratio and shell weight ranging from 0.55 to 0.79 were relatively high. It can be concluded that it is possible to determine egg shell quality using the egg specific gravity values utilizing its high heritability and fairly high positive correlation with most of the egg shell quality traits. As a result, egg specific gravity may be the choice of selection criterion rather than other external egg traits for genetic improvement of egg shell quality in Japanese quails.

Correlation of Merkel cell polyomavirus positivity with PDGFRα mutations and survivin expression in Merkel cell carcinoma.

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Batinica, M; Akgül, B; Silling, S; Mauch, C; Zigrino, P

2015-07-01

Merkel cell carcinoma (MCC) is a neuroendocrine cancer of the skin postulated to originate through Merkel cell polyomavirus (MCPyV) oncogenesis and/or by mutations in molecules implicated in the regulation of cell growth and survival. Despite the fact that MCPvV is detected more broadly within the population, only a part of the infected people also develop MCC. It is thus conceivable that together, virus and for example mutations, are necessary for disease development. However, apart from a correlation between MCPyV positivity or mutations and MCC development, less is known about the association of these factors with progressive disease. To analyze MCPyV positivity, load and integration in MCC as well as presence of mutations in PDGFRα and TP53 genes and correlate these with clinical features and disease progression to identify features with prognostic value for clinical progression. This is a study on a MCC population group of 64 patients. MCPyV positivity, load and integration in parallel to mutations in the PDGFRα and TP53 were analyzed on genomic DNA from MCC specimens. In addition, expression of PDGFRα, survivin and p53 proteins was analyzed by immunodetection in tissues specimens. All these parameters were analyzed as function of patient's disease progression status. 83% of MCCs were positive for the MCPyV and among these 36% also displayed virus-T integration. Viral load ranged from 0.006 to 943 viral DNA copies/β-globin gene and was highest in patients with progressive disease. We detected more than one mutation within the PDGFRα gene and identified two new SNPs in 36% of MCC patients, whereas no mutations were found in TP53 gene. Survivin was expressed in 78% of specimens. We could not correlate either mutations in PDGFR or expression of PDGFR, p53 and surviving either to the disease progression or to the MCPyV positivity. In conclusion, our data indicate that the viral positivity when associated with high viral load, correlates with poor disease

instability and reversal of genetic correlations during selection on ...

Indian Academy of Sciences (India)

Unknown

stable genetic architecture has been the motivation for nu- merous investigations ... 'decisions' made by the organism concerning the mode of resource acquisition ... genetic background, making the population the appropri- ate unit of study.

Genetic diversity of popcorn genotypes using molecular analysis.

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Resh, F S; Scapim, C A; Mangolin, C A; Machado, M F P S; do Amaral, A T; Ramos, H C C; Vivas, M

2015-08-19

In this study, we analyzed dominant molecular markers to estimate the genetic divergence of 26 popcorn genotypes and evaluate whether using various dissimilarity coefficients with these dominant markers influences the results of cluster analysis. Fifteen random amplification of polymorphic DNA primers produced 157 amplified fragments, of which 65 were monomorphic and 92 were polymorphic. To calculate the genetic distances among the 26 genotypes, the complements of the Jaccard, Dice, and Rogers and Tanimoto similarity coefficients were used. A matrix of Dij values (dissimilarity matrix) was constructed, from which the genetic distances among genotypes were represented in a more simplified manner as a dendrogram generated using the unweighted pair-group method with arithmetic average. Clusters determined by molecular analysis generally did not group material from the same parental origin together. The largest genetic distance was between varieties 17 (UNB-2) and 18 (PA-091). In the identification of genotypes with the smallest genetic distance, the 3 coefficients showed no agreement. The 3 dissimilarity coefficients showed no major differences among their grouping patterns because agreement in determining the genotypes with large, medium, and small genetic distances was high. The largest genetic distances were observed for the Rogers and Tanimoto dissimilarity coefficient (0.74), followed by the Jaccard coefficient (0.65) and the Dice coefficient (0.48). The 3 coefficients showed similar estimations for the cophenetic correlation coefficient. Correlations among the matrices generated using the 3 coefficients were positive and had high magnitudes, reflecting strong agreement among the results obtained using the 3 evaluated dissimilarity coefficients.

Determination of epigenetic inheritance, genetic inheritance, and estimation of genome DNA methylation in a full-sib family of Cupressus sempervirens L.

Science.gov (United States)

Avramidou, Evangelia V; Doulis, Andreas G; Aravanopoulos, Filippos A

2015-05-15

Genetic inheritance and epigenetic inheritance are significant determinants of plant evolution, adaptation and plasticity. We studied inheritance of restriction site polymorphisms by the f-AFLP method and epigenetic DNA cytosine methylation inheritance by the f-MSAP technique. The study involved parents and 190 progeny of a Cupressus sempervirens L. full-sib family. Results from AFLP genetic data revealed that 71.8% of the fragments studied are under Mendelian genetic control, whereas faithful Mendelian inheritance for the MSAP fragments was low (4.29%). Further, MSAP fragment analysis showed that total methylation presented a mean of 28.2%, which was higher than the midparent value, while maternal inheritance was higher (5.65%) than paternal (3.01%). Interestingly de novo methylation in the progeny was high (19.65%) compared to parental methylation. Genetic and epigenetic distances for parents and offspring were not correlated (R(2)=0.0005). Furthermore, we studied correlation of total relative methylation and CG methylation with growth (height, diameter). We found CG/CNG methylation (N: A, C, T) to be positively correlated with height and diameter, while total relative methylation and CG methylation were positively correlated with height. Results are discussed in light of further research needed and of their potential application in breeding. Copyright © 2015 Elsevier B.V. All rights reserved.

Serum uric acid levels correlate with benign paroxysmal positional vertigo.

Science.gov (United States)

Celikbilek, A; Gencer, Z K; Saydam, L; Zararsiz, G; Tanik, N; Ozkiris, M

2014-01-01

Benign paroxysmal positional vertigo (BPPV) is a frequently encountered condition that can severely affect the quality of life. In this study, we aimed to assess the possible relations between serum uric acid (SUA) levels and BPPV. Fifty patients with BPPV, and 40 age- and sex-matched control subjects were enrolled in the study. All the patients and controls underwent a complete audio-vestibular test battery including the Dix-Hallpike maneuver and supine roll test for posterior semicircular canal (PSC) and horizontal semicircular canal, respectively. Routine hematological and biochemical analyses were performed in both groups. In the BPPV group, measurements of SUA levels were repeated 1 month after the vertigo attack. The lipid profiles and SUA levels were higher in patients with BPPV than detected in controls (P multiple logistic regression models (P decrement in SUA level 1 month after the vertigo attack compared with the values obtained during the attack (P 0.05). Elevated SUA is positively correlated with BPPV, requiring further efforts to clarify the exact mechanism. © 2013 The Author(s) European Journal of Neurology © 2013 EFNS.

EMMPRIN expression positively correlates with WHO grades of astrocytomas and meningiomas.

Science.gov (United States)

Tsai, Wen-Chiuan; Chen, Ying; Huang, Li-Chun; Lee, Herng-Sheng; Ma, Hsin-I; Huang, Shih-Ming; Sytwu, Huey-Kang; Hueng, Dueng-Yuan

2013-09-01

High-grade primary brain tumors possessed poor outcome due to invasiveness. Extracellular matrix metalloproteinase inducer (EMMPRIN) stimulates peri-tumoral fibroblasts to secrete matrix metalloproteinase and promote invasiveness. This study hypothesized that high-grade brain tumors overexpress EMMPRIN. Analyzing the public delinked database from the Gene Expression Omnibus profile, the results showed that the EMMPRIN mRNA level was higher in WHO grade IV (n = 81) than in grade III (n = 19, p EMMPRIN levels positively correlated with WHO grades for astrocytomas (p = 0.008) and meningiomas (p = 0.048). EMMPRIN mRNA levels in conventional glioma cell lines (n = 36) was not less than those in glioma primary culture cells (n = 27) and glioblastoma stem-like cells (n = 12). The GBM8401, U87MG, and LN229 human glioma cell lines also overexpressed EMMPRIN. Hematoxylin and eosin, IHC, and immunofluorescence staining of xenografts confirmed that high-grade brain tumors overexpressed EMMPRIN. Lastly, Kaplan-Meier analysis revealed poorer survival in WHO grade IV (n = 56) than in grade III astrocytomas (n = 21, by log-rank test; p = 0.0001, 95 % CI: 1.842-3.053). However, in high-grade astrocytomas, there was no difference in survival between high and low EMMPRIN mRNA levels. Thus, this study identified that high-grade brain tumors overexpress EMMPRIN, which positively correlates with WHO grades in human astrocytomas and meningiomas, and suggests that EMMPRIN may be a therapeutic target of brain tumor.

PCR-free detection of genetically modified organisms using magnetic capture technology and fluorescence cross-correlation spectroscopy.

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Xiaoming Zhou

2009-11-01

Full Text Available The safety of genetically modified organisms (GMOs has attracted much attention recently. Polymerase chain reaction (PCR amplification is a common method used in the identification of GMOs. However, a major disadvantage of PCR is the potential amplification of non-target DNA, causing false-positive identification. Thus, there remains a need for a simple, reliable and ultrasensitive method to identify and quantify GMO in crops. This report is to introduce a magnetic bead-based PCR-free method for rapid detection of GMOs using dual-color fluorescence cross-correlation spectroscopy (FCCS. The cauliflower mosaic virus 35S (CaMV35S promoter commonly used in transgenic products was targeted. CaMV35S target was captured by a biotin-labeled nucleic acid probe and then purified using streptavidin-coated magnetic beads through biotin-streptavidin linkage. The purified target DNA fragment was hybridized with two nucleic acid probes labeled respectively by Rhodamine Green and Cy5 dyes. Finally, FCCS was used to detect and quantify the target DNA fragment through simultaneously detecting the fluorescence emissions from the two dyes. In our study, GMOs in genetically engineered soybeans and tomatoes were detected, using the magnetic bead-based PCR-free FCCS method. A detection limit of 50 pM GMOs target was achieved and PCR-free detection of GMOs from 5 microg genomic DNA with magnetic capture technology was accomplished. Also, the accuracy of GMO determination by the FCCS method is verified by spectrophotometry at 260 nm using PCR amplified target DNA fragment from GM tomato. The new method is rapid and effective as demonstrated in our experiments and can be easily extended to high-throughput and automatic screening format. We believe that the new magnetic bead-assisted FCCS detection technique will be a useful tool for PCR-free GMOs identification and other specific nucleic acids.

Cell size is positively correlated between different tissues in passerine birds and amphibians, but not necessarily in mammals

OpenAIRE

Kozłowski, J.; Czarnołęski, M.; François-Krassowska, A.; Maciak, S.; Pis, T.

2010-01-01

We examined cell size correlations between tissues, and cell size to body mass relationships in passerine birds, amphibians and mammals. The size correlated highly between all cell types in birds and amphibians; mammalian tissues clustered by size correlation in three tissue groups. Erythrocyte size correlated well with the volume of other cell types in birds and amphibians, but poorly in mammals. In birds, body mass correlated positively with the size of all cell types including erythrocytes...

Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.

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Relu Cocoş

Full Text Available Wilson's disease is an autosomal recessive disorder caused by more than 500 mutations in ATP7B gene presenting considerably clinical manifestations heterogeneity even in patients with a particular mutation. Previous findings suggested a potential role of additional genetic modifiers and environment factors on phenotypic expression among the affected patients. We conducted clinical and genetic investigations to perform genotype-phenotype correlation in two large families living in a socio-culturally isolated community with the highest prevalence of Wilson's disease ever reported of 1 ∶ 1130. Sequencing of ATP7B gene in seven affected individuals and 43 family members identified a common compound heterozygous genotype, H1069Q/M769H-fs, in five symptomatic and two asymptomatic patients and detected the presence of two out of seven identified single nucleotide polymorphisms in all affected patients. Symptomatic patients had similar clinical phenotype and age at onset (18 ± 1 years showing dysarthria and dysphagia as common clinical features at the time of diagnosis. Moreover, all symptomatic patients presented Kayser-Fleischer rings and lack of dystonia accompanied by unfavourable clinical outcomes. Our findings add value for understanding of genotype-phenotype correlations in Wilson's disease based on a multifamily study in an isolated population with high extent of genetic and environmental homogeneity as opposed to majority of reports. We observed an equal influence of presumed other genetic modifiers and environmental factors on clinical presentation and age at onset of Wilson's disease in patients with a particular genotype. These data provide valuable inferences that could be applied for predicting clinical management in asymptomatic patients in such communities.

Genetic parameter and breeding value estimation of donkeys' problem-focused coping styles.

Science.gov (United States)

Navas González, Francisco Javier; Jordana Vidal, Jordi; León Jurado, José Manuel; Arando Arbulu, Ander; McLean, Amy Katherine; Delgado Bermejo, Juan Vicente

2018-05-12

Donkeys are recognized therapy or leisure-riding animals. Anecdotal evidence has suggested that more reactive donkeys or those more easily engaging flight mechanisms tend to be easier to train compared to those displaying the natural donkey behaviour of fight. This context brings together the need to quantify such traits and to genetically select donkeys displaying a neutral reaction during training, because of its implication with handler/rider safety and trainability. We analysed the scores for coping style traits from 300 Andalusian donkeys from 2013 to 2015. Three scales were applied to describe donkeys' response to 12 stimuli. Genetic parameters were estimated using multivariate models with year, sex, husbandry system and stimulus as fixed effects and age as a linear and quadratic covariable. Heritabilities were moderate, 0.18 ± 0.020 to 0.21 ± 0.021. Phenotypic correlations between intensity and mood/emotion or response type were negative and moderate (-0.21 and -0.25, respectively). Genetic correlations between the same variables were negative and moderately high (-0.46 and -0.53, respectively). Phenotypic and genetic correlations between mood/emotion and response type were positive and high (0.92 and 0.95, respectively). Breeding values enable selection methods that could lead to endangered breed preservation and genetically selecting donkeys for the uses that they may be most suitable. Copyright © 2018 Elsevier B.V. All rights reserved.

Genetics of human body size and shape: body proportions and indices.

Science.gov (United States)

Livshits, Gregory; Roset, A; Yakovenko, K; Trofimov, S; Kobyliansky, E

2002-01-01

The study of the genetic component in morphological variables such as body height and weight, head and chest circumference, etc. has a rather long history. However, only a few studies investigated body proportions and configuration. The major aim of the present study was to evaluate the extent of the possible genetic effects on the inter-individual variation of a number of body configuration indices amenable to clear functional interpretation. Two ethnically different pedigree samples were used in the study: (1) Turkmenians (805 individuals) from Central Asia, and (2) Chuvasha (732 individuals) from the Volga riverside, Russian Federation. To achieve the aim of the present study we proposed three new indices, which were subjected to a statistical-genetic analysis using modified version of "FISHER" software. The proposed indices were: (1) an integral index of torso volume (IND#1), an index reflecting a predisposition of body proportions to maintain a balance in a vertical position (IND#2), and an index of skeletal extremities volume (IND#3). Additionally, the first two principal factors (PF1 and PF2) obtained on 19 measurements of body length and breadth were subjected to genetic analysis. Variance decomposition analysis that simultaneously assess the contribution of gender, age, additive genetic effects and effects of environment shared by the nuclear family members, was applied to fit variation of the above three indices, and PF1 and PF2. The raw familial correlation of all study traits and in both samples showed: (1) all marital correlations did not differ significantly from zero; (2) parent-offspring and sibling correlations were all positive and statistically significant. The parameter estimates obtained in variance analyses showed that from 40% to 75% of inter-individual variation of the studied traits (adjusted for age and sex) were attributable to genetic effects. For PF1 and PF2 in both samples, and for IND#2 (in Chuvasha pedigrees), significant common sib

Muscle MRI in pediatrics: clinical, pathological and genetic correlation

Energy Technology Data Exchange (ETDEWEB)

Cejas, Claudia P.; Serra, Maria M.; Galvez, David F.G. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Radiology Department, Buenos Aires (Argentina); Cavassa, Eliana A.; Vazquez, Gabriel A.; Massaro, Mario E.L.; Schteinschneider, Angeles V. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Department of Neuropediatrics, Buenos Aires (Argentina); Taratuto, Ana L. [Foundation for Neurological Research Dr. Raul Carrea (FLENI), Neuropathology Consultant, Buenos Aires (Argentina)

2017-05-15

Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments. We selected eight myopathy cases from our institutional database in which the pattern of muscle involvement observed on MRI was almost pathognomonic and could therefore contribute to establishing diagnosis. Muscle biopsy, genetic diagnosis or both confirmed all cases. (orig.)

Muscle MRI in pediatrics: clinical, pathological and genetic correlation

International Nuclear Information System (INIS)

Cejas, Claudia P.; Serra, Maria M.; Galvez, David F.G.; Cavassa, Eliana A.; Vazquez, Gabriel A.; Massaro, Mario E.L.; Schteinschneider, Angeles V.; Taratuto, Ana L.

2017-01-01

Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments. We selected eight myopathy cases from our institutional database in which the pattern of muscle involvement observed on MRI was almost pathognomonic and could therefore contribute to establishing diagnosis. Muscle biopsy, genetic diagnosis or both confirmed all cases. (orig.)

DNA pattern recognition using canonical correlation algorithm.

Science.gov (United States)

Sarkar, B K; Chakraborty, Chiranjib

2015-10-01

We performed canonical correlation analysis as an unsupervised statistical tool to describe related views of the same semantic object for identifying patterns. A pattern recognition technique based on canonical correlation analysis (CCA) was proposed for finding required genetic code in the DNA sequence. Two related but different objects were considered: one was a particular pattern, and other was test DNA sequence. CCA found correlations between two observations of the same semantic pattern and test sequence. It is concluded that the relationship possesses maximum value in the position where the pattern exists. As a case study, the potential of CCA was demonstrated on the sequence found from HIV-1 preferred integration sites. The subsequences on the left and right flanking from the integration site were considered as the two views, and statistically significant relationships were established between these two views to elucidate the viral preference as an important factor for the correlation.

The Correlation of Initial Sputum Smear Positivity on Treatment Failure of Category 1 Therapy for Pulmonary Tuberculosis

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Puput Dyah Ayu

2016-11-01

Full Text Available Tuberculosis is an infectious disease and is an important public health problem. Based on data from East Java Province Health Department reported that number of tuberculosis patient in Surabaya is the highest in East Java on year 2014. Early identification and good treatment based on the result of sputum identification are the strategy use to control tuberculosis widespread. So that why, microscopic observation to identify acid fast bacilli (AFB is the fundamental stage to determine recovery treatment. Initial sputum smear positivity is necessary to determine infectious graded. The objectives of the study were to identify of initial sputum smear positivity on treatment failure of category 1 therapy for pulmonary tuberculosis in RS Paru Surabaya year 2011-2014. This study used case control method with quantitative approach. Forty two samples were taken from secondary data. Case group is 21 samples who have treatment failure and control group is 21 successful treatment. Samples were selected by simple random sampling. The chi square correlation showed that highly positive initial smear (p = 0,045; OR = 5,4 have correlated and risk factor to treatment failure on category 1 therapy for pulmonary tuberculosis. The conclusion is patient’s high positive sputum smear initially correlated to treatment failure on category 1 therapy for pulmonary tuberculosis in RS Paru Surabaya year 2011–2014. Keywords: initial sputum smear positivity, treatment failure,, category 1 therapy for pulmonary tuberculosis

Psychopathic Personality Traits and Environmental Contexts: Differential Correlates, Gender Differences, and Genetic Mediation

Science.gov (United States)

Hicks, Brian M.; Carlson, Marie D.; Blonigen, Daniel M.; Patrick, Christopher J.; Iacono, William G.; MGue, Matt

2011-01-01

Theorists have speculated that primary psychopathy (or Factor 1 affective-interpersonal features) is prominently heritable whereas secondary psychopathy (or Factor 2 social deviance) is more environmentally determined. We tested this differential heritability hypothesis using a large adolescent twin sample. Trait-based proxies of primary and secondary psychopathic tendencies were assessed using Multidimensional Personality Questionnaire (MPQ; Tellegen & Waller, 2008) estimates of Fearless Dominance and Impulsive Antisociality, respectively (Benning et al., 2005). The environmental contexts of family, school, peers, and stressful life events were assessed using multiple raters and methods. Consistent with prior research, MPQ Impulsive Antisociality was robustly associated with each environmental risk factor, and these associations were significantly greater than those for MPQ Fearless Dominance. However, MPQ Fearless Dominance and Impulsive Antisociality exhibited similar heritability, and genetic effects mediated the associations between MPQ Impulsive Antisociality and the environmental measures. Results were largely consistent across male and female twins. We conclude that gene-environment correlations rather than main effects of genes and environments account for the differential environmental correlates of primary and secondary psychopathy. PMID:22452762

Genetic relationships between carcass cut weights predicted from video image analysis and other performance traits in cattle.

Science.gov (United States)

Pabiou, T; Fikse, W F; Amer, P R; Cromie, A R; Näsholm, A; Berry, D P

2012-09-01

The objective of this study was to quantify the genetic associations between a range of carcass-related traits including wholesale cut weights predicted from video image analysis (VIA) technology, and a range of pre-slaughter performance traits in commercial Irish cattle. Predicted carcass cut weights comprised of cut weights based on retail value: lower value cuts (LVC), medium value cuts (MVC), high value cuts (HVC) and very high value cuts (VHVC), as well as total meat, fat and bone weights. Four main sources of data were used in the genetic analyses: price data of live animals collected from livestock auctions, live-weight data and linear type collected from both commercial and pedigree farms as well as from livestock auctions and weanling quality recorded on-farm. Heritability of carcass cut weights ranged from 0.21 to 0.39. Genetic correlations between the cut traits and the other performance traits were estimated using a series of bivariate sire linear mixed models where carcass cut weights were phenotypically adjusted to a constant carcass weight. Strongest positive genetic correlations were obtained between predicted carcass cut weights and carcass value (min r g(MVC) = 0.35; max r(g(VHVC)) = 0.69), and animal price at both weaning (min r(g(MVC)) = 0.37; max r(g(VHVC)) = 0.66) and post weaning (min r(g(MVC)) = 0.50; max r(g(VHVC)) = 0.67). Moderate genetic correlations were obtained between carcass cut weights and calf price (min r g(HVC) = 0.34; max r g(LVC) = 0.45), weanling quality (min r(g(MVC)) = 0.12; max r (g(VHVC)) = 0.49), linear scores for muscularity at both weaning (hindquarter development: min r(g(MVC)) = -0.06; max r(g(VHVC)) = 0.46), post weaning (hindquarter development: min r(g(MVC)) = 0.23; max r(g(VHVC)) = 0.44). The genetic correlations between total meat weight were consistent with those observed with the predicted wholesale cut weights. Total fat and total bone weights were generally negatively correlated with carcass value, auction

Molecular genetic contributions to socioeconomic status and intelligence.

Science.gov (United States)

Marioni, Riccardo E; Davies, Gail; Hayward, Caroline; Liewald, Dave; Kerr, Shona M; Campbell, Archie; Luciano, Michelle; Smith, Blair H; Padmanabhan, Sandosh; Hocking, Lynne J; Hastie, Nicholas D; Wright, Alan F; Porteous, David J; Visscher, Peter M; Deary, Ian J

2014-05-01

Education, socioeconomic status, and intelligence are commonly used as predictors of health outcomes, social environment, and mortality. Education and socioeconomic status are typically viewed as environmental variables although both correlate with intelligence, which has a substantial genetic basis. Using data from 6815 unrelated subjects from the Generation Scotland study, we examined the genetic contributions to these variables and their genetic correlations. Subjects underwent genome-wide testing for common single nucleotide polymorphisms (SNPs). DNA-derived heritability estimates and genetic correlations were calculated using the 'Genome-wide Complex Trait Analyses' (GCTA) procedures. 21% of the variation in education, 18% of the variation in socioeconomic status, and 29% of the variation in general cognitive ability was explained by variation in common SNPs (SEs ~ 5%). The SNP-based genetic correlations of education and socioeconomic status with general intelligence were 0.95 (SE 0.13) and 0.26 (0.16), respectively. There are genetic contributions to intelligence and education with near-complete overlap between common additive SNP effects on these traits (genetic correlation ~ 1). Genetic influences on socioeconomic status are also associated with the genetic foundations of intelligence. The results are also compatible with substantial environmental contributions to socioeconomic status.

Natural selection affects multiple aspects of genetic variation at putatively peutral sites across the human genome

DEFF Research Database (Denmark)

Lohmueller, Kirk E; Albrechtsen, Anders; Li, Yingrui

2011-01-01

A major question in evolutionary biology is how natural selection has shaped patterns of genetic variation across the human genome. Previous work has documented a reduction in genetic diversity in regions of the genome with low recombination rates. However, it is unclear whether other summaries...... these questions by analyzing three different genome-wide resequencing datasets from European individuals. We document several significant correlations between different genomic features. In particular, we find that average minor allele frequency and diversity are reduced in regions of low recombination...... and that human diversity, human-chimp divergence, and average minor allele frequency are reduced near genes. Population genetic simulations show that either positive natural selection acting on favorable mutations or negative natural selection acting against deleterious mutations can explain these correlations...

Disentangling the intertwined genetic bases of root and shoot growth in Arabidopsis.

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Marie Bouteillé

Full Text Available Root growth and architecture are major components of plant nutrient and water use efficiencies and these traits are the matter of extensive genetic analysis in several crop species. Because root growth relies on exported assimilate from the shoot, and changes in assimilate supply are known to alter root architecture, we hypothesized (i that the genetic bases of root growth could be intertwined with the genetic bases of shoot growth and (ii that the link could be either positive, with alleles favouring shoot growth also favouring root growth, or negative, because of competition for assimilates. We tested these hypotheses using a quantitative genetics approach in the model species Arabidopsis thaliana and the Bay-0 × Shahdara recombinant inbred lines population. In accordance with our hypothesis, root and shoot growth traits were strongly correlated and most root growth quantitative trait loci (QTLs colocalized with shoot growth QTLs with positive alleles originating from either the same or the opposite parent. In order to identify regions that could be responsible for root growth independently of the shoot, we generated new variables either based on root to shoot ratios, residuals of root to shoot correlations or coordinates of principal component analysis. These variables showed high heritability allowing genetic analysis. They essentially all yielded similar results pointing towards two regions involved in the root--shoot balance. Using Heterogeneous Inbred Families (a kind of near-isogenic lines, we validated part of the QTLs present in these two regions for different traits. Our study thus highlights the difficulty of disentangling intertwined genetic bases of root and shoot growth and shows that this difficulty can be overcome by using simple statistical tools.

Estimation of genetic parameters for milk traits in Romanian local sheep breed

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Pelmus RS

2014-03-01

Full Text Available Objective. Estimate the genetic parameters for milk traits in a Romanian local sheep population Teleorman Black Head. Material and methods. Records of 262 sheep belonging to 17 rams and 139 ewes were used in the study. The following traits were investigated: milk yield, fat yield, protein yield, fat percentage and protein percentage. The genetic parameters were estimated using the Restricted Maximum Likelihood method, with a model including maternal effects. Results. The results from our study revealed that direct heritability estimates were moderate for milk yield (0.449, fat yield (0.442, protein yield (0.386 while for protein percentage (0.708 and fat percentage (0.924 were high. The high direct and maternal genetic correlation was between milk yield and protein yield (0.979, 0.973 and between protein yield and fat yield (0.952, 0.913 while the phenotypic correlation between the milk yield and fat yield (0.968, the milk yield and protein yield (0.967, fat yield and protein yield (0.936 was high and positive. Conclusions. The genetic parameters are important in selection program on this breed for genetic improvement.

Plant traits correlated with generation time directly affect inbreeding depression and mating system and indirectly genetic structure

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Hardy Olivier J

2009-07-01

differences in stature, as proposed earlier, but rather to differences in generation time. Conclusion Plant traits correlated with generation time affect both inbreeding depression and mating system. These in turn modify genetic drift and gene flow and ultimately genetic structure.

Sensor placement optimization for structural modal identification of flexible structures using genetic algorithm

International Nuclear Information System (INIS)

Jung, B. K.; Cho, J. R.; Jeong, W. B.

2015-01-01

The position of vibration sensors influences the modal identification quality of flexible structures for a given number of sensors, and the quality of modal identification is usually estimated in terms of correlation between the natural modes using the modal assurance criterion (MAC). The sensor placement optimization is characterized by the fact that the design variables are not continuous but discrete, implying that the conventional sensitivity-driven optimization methods are not applicable. In this context, this paper presents the application of genetic algorithm to the sensor placement optimization for improving the modal identification quality of flexible structures. A discrete-type optimization problem using genetic algorithm is formulated by defining the sensor positions and the MAC as the design variables and the objective function, respectively. The proposed GA-based evolutionary optimization method is validated through the numerical experiment with a rectangular plate, and its excellence is verified from the comparison with the cases using different modal correlation measures.

Correlation between intake and ingestive behavior of pasture-grazed heifers

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Hermógenes Almeida Santana Junior

2013-12-01

Full Text Available The objective of this study was to evaluate the correlation between intake and ingestive behavior of crossbred heifers in grazing tropical. The experiment was conducted on the Princesa do Mateiro Farm, in the city of Ribeirão do Largo, Bahia. A total of 20 heifers with genetic makeup 5/8 dairy Guzerá and 3/8 Holstein, average age of 18 months and body weight of 187 ± 13.1 kg have been used. The experiment lasted 224 days and involved animals raised in a rotational grazing system with Brachiaria brizantha cv. Marandú. Grazing time was not correlated with any of the variables associated with intake. Rumination time showed positive correlations with the intake of forage dry matter (DMIF and neutral detergent fiber (NDFI. Variables associated with the time spent on feeding at the trough, overall feeding and total chewing were not correlated with intake (P>0.05. There have been positive correlations between the number of grazing periods (NGP and rumination periods (NRP and total DM intake (TDMI, organic matter (OMI, forage (DMIF, neutral detergent fiber (NDFI, total carbohydrates (TCHI and ether extract (EEI. Crude protein intake (CPI was positively correlated with NGP and NRP. The mouthful rate was positively correlated with TDMI, OMI, DMIF, NDFI, TCHI, EEI and CPI. Average time per swallow was negatively correlated with TDMI, OMI, NDFI, TCHI and EEI. Positive correlations have been observed between the number of mouthfuls per day and TDMI, OMI, DMIF, NDFI, TCHI, EEI. The number of chews per bolus showed negative correlations with DMIS and CPI. The time per cake ruminated has correlated negatively with the intake of crude protein. The number of chews per bolus showed positive correlations with the intakes of dry matter and neutral detergent fiber. The number of boli per day showed positive correlations with DMIF and TCHI. The time spent on chewing showed no significant correlation with intake. In conflict with the national and international

EPPUR SI MUOVE: POSITIONAL AND KINEMATIC CORRELATIONS OF SATELLITE PAIRS IN THE LOW Z UNIVERSE

International Nuclear Information System (INIS)

Ibata, Rodrigo A.; Famaey, Benoit; Martin, Nicolas; Lewis, Geraint F.; Ibata, Neil G.

2015-01-01

We have recently shown that pairs of satellite galaxies located diametrically opposite to each other around their host possess predominantly anti-correlated velocities. This is consistent with a scenario in which ≳50% of satellite galaxies belong to kinematically coherent rotating planar structures. Here we extend this analysis, examining satellites of giant galaxies drawn from an SDSS photometric redshift catalog. We find that there is a ∼17% overabundance (>3σ significance) of candidate satellites at positions diametrically opposite to a spectroscopically confirmed satellite. We show that ΛCDM cosmological simulations do not possess this property when contamination is included. After subtracting contamination, we find ∼2 times more satellites diametrically opposed to a spectroscopically confirmed satellite than at 90° from it, at projected distances ranging from 100 to 150 kpc from the host. This independent analysis thus strongly supports our previous results on anti-correlated velocities. We also find that those satellite pairs with anti-correlated velocities have a strong preference (∼3:1) to align with the major axis of the host whereas those with correlated velocities display the opposite behavior. We finally show that repeating a similar analysis to Ibata et al. with same-side satellites is generally hard to interpret, but is not inconsistent with our previous results when strong quality cuts are applied on the sample. This addresses all of the concerns recently raised by Cautun et al., who did not uncover any flaw in our previous analysis, but may simply have hinted at the physical extent of planar satellite structures by pointing out that the anti-correlation signal weakens at radii >150 kpc. All these unexpected positional and kinematic correlations strongly suggest that a substantial fraction of satellite galaxies are causally linked in their formation and evolution

EPPUR SI MUOVE: POSITIONAL AND KINEMATIC CORRELATIONS OF SATELLITE PAIRS IN THE LOW Z UNIVERSE

Energy Technology Data Exchange (ETDEWEB)

Ibata, Rodrigo A.; Famaey, Benoit; Martin, Nicolas [Observatoire astronomique de Strasbourg, Université de Strasbourg, CNRS, UMR 7550, 11 rue de l’Université, F-67000 Strasbourg (France); Lewis, Geraint F. [Sydney Institute of Astronomy, School of Physics A28, University of Sydney, NSW 2006 (Australia); Ibata, Neil G., E-mail: rodrigo.ibata@astro.unistra.fr [Trinity College, Trinity Street, Cambridge, CB2 1TQ (United Kingdom)

2015-05-20

We have recently shown that pairs of satellite galaxies located diametrically opposite to each other around their host possess predominantly anti-correlated velocities. This is consistent with a scenario in which ≳50% of satellite galaxies belong to kinematically coherent rotating planar structures. Here we extend this analysis, examining satellites of giant galaxies drawn from an SDSS photometric redshift catalog. We find that there is a ∼17% overabundance (>3σ significance) of candidate satellites at positions diametrically opposite to a spectroscopically confirmed satellite. We show that ΛCDM cosmological simulations do not possess this property when contamination is included. After subtracting contamination, we find ∼2 times more satellites diametrically opposed to a spectroscopically confirmed satellite than at 90° from it, at projected distances ranging from 100 to 150 kpc from the host. This independent analysis thus strongly supports our previous results on anti-correlated velocities. We also find that those satellite pairs with anti-correlated velocities have a strong preference (∼3:1) to align with the major axis of the host whereas those with correlated velocities display the opposite behavior. We finally show that repeating a similar analysis to Ibata et al. with same-side satellites is generally hard to interpret, but is not inconsistent with our previous results when strong quality cuts are applied on the sample. This addresses all of the concerns recently raised by Cautun et al., who did not uncover any flaw in our previous analysis, but may simply have hinted at the physical extent of planar satellite structures by pointing out that the anti-correlation signal weakens at radii >150 kpc. All these unexpected positional and kinematic correlations strongly suggest that a substantial fraction of satellite galaxies are causally linked in their formation and evolution.

Cancer-associated fibroblasts are positively correlated with metastatic potential of human gastric cancers

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Zhang Hao

2010-06-01

Full Text Available Abstract Background The prognosis of gastric cancer patients is difficult to predict because of defects in establishing the surgical-pathological features. Cancer-associated fibroblasts (CAFs have been found to play prominent role in promoting tumor growth, invasion and metastasis. Thus raises the hypothesis that the extent of CAFs prevalence may help to establish the prognosis of gastric cancer patients. Methods Immunochemistry and realtime-PCR experiments were carried out to compare the expression of proteins which are specific markers of CAFs or secreted by CAFs in the tumor and normal tissue specimens. The extent of CAFs' prevalence was graded according to immunochemical staining, and correlation was further analyzed between CAFs' prevalence and other tumor characteristics which may influence the prognosis of gastric cancer patients. Results Nearly 80 percent of normal gastric tissues were negative or weak positive for CAFs staining, while more than 60 percent of gastric cancer tissues were moderate or strong positive for CAFs staining. Realtime-PCR results also showed significant elevated expression of FAP, SDF-1 and TGF-β1 in gastric cancer tissues compared to normal gastric tissues. Further analysis showed that CAFs' prevalence was correlated with tumor size, depth of the tumor, lymph node metastasis, liver metastasis or peritoneum metastasis. Conclusions Reactive cancer associated fibroblasts (CAFs were frequently accumulated in gastric cancer tissues, and the prevalence of CAFs was correlated with tumor size, depth of the tumor and tumor metastasis, thus give some supports for establishing the prognosis of the gastric cancer patients.

Population Genetic Structure of the Endangered Kaiser's Mountain Newt, Neurergus kaiseri (Amphibia: Salamandridae.

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Hossein Farasat

Full Text Available Species often exhibit different levels of genetic structuring correlated to their environment. However, understanding how environmental heterogeneity influences genetic variation is difficult because the effects of gene flow, drift and selection are confounded. We investigated the genetic variation and its ecological correlates in an endemic and critically endangered stream breeding mountain newt, Neurergus kaiseri, within its entire range in southwestern Iran. We identified two geographic regions based on phylogenetic relationships using Bayesian inference and maximum likelihood of 779 bp mtDNA (D-loop in 111 individuals from ten of twelve known breeding populations. This analysis revealed a clear divergence between northern populations, located in more humid habitats at higher elevation, and southern populations, from drier habitats at lower elevations regions. From seven haplotypes found in these populations none was shared between the two regions. Analysis of molecular variance (AMOVA of N. kaiseri indicates that 94.03% of sequence variation is distributed among newt populations and 5.97% within them. Moreover, a high degree of genetic subdivision, mainly attributable to the existence of significant variance among the two regions is shown (θCT = 0.94, P = 0.002. The positive and significant correlation between geographic and genetic distances (r = 0.61, P = 0.002 following controlling for environmental distance suggests an important influence of geographic divergence of the sites in shaping the genetic variation and may provide tools for a possible conservation based prioritization policy for the endangered species.

Applicability of genetic algorithms to parameter estimation of economic models

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Marcel Ševela

2004-01-01

Full Text Available The paper concentrates on capability of genetic algorithms for parameter estimation of non-linear economic models. In the paper we test the ability of genetic algorithms to estimate of parameters of demand function for durable goods and simultaneously search for parameters of genetic algorithm that lead to maximum effectiveness of the computation algorithm. The genetic algorithms connect deterministic iterative computation methods with stochastic methods. In the genteic aůgorithm approach each possible solution is represented by one individual, those life and lifes of all generations of individuals run under a few parameter of genetic algorithm. Our simulations resulted in optimal mutation rate of 15% of all bits in chromosomes, optimal elitism rate 20%. We can not set the optimal extend of generation, because it proves positive correlation with effectiveness of genetic algorithm in all range under research, but its impact is degreasing. The used genetic algorithm was sensitive to mutation rate at most, than to extend of generation. The sensitivity to elitism rate is not so strong.

Bose-Einstein study of position-momentum correlations of charged pions in hadronic $Z^{0}$ decays

CERN Document Server

Abbiendi, G.; Akesson, P.F.; Alexander, G.; Anagnostou, G.; Anderson, K.J.; Asai, S.; Axen, D.; Bailey, I.; Barberio, E.; Barillari, T.; Barlow, R.J.; Batley, R.J.; Bechtle, P.; Behnke, T.; Bell, Kenneth Watson; Bell, P.J.; Bella, G.; Bellerive, A.; Benelli, G.; Bethke, S.; Biebel, O.; Boeriu, O.; Bock, P.; Boutemeur, M.; Braibant, S.; Brown, Robert M.; Burckhart, H.J.; Campana, S.; Capiluppi, P.; Carnegie, R.K.; Carter, A.A.; Carter, J.R.; Chang, C.Y.; Charlton, D.G.; Ciocca, C.; Csilling, A.; Cuffiani, M.; Dado, S.; Dallavalle, G.M.; De Roeck, A.; De Wolf, E.A.; Desch, K.; Dienes, B.; Dubbert, J.; Duchovni, E.; Duckeck, G.; Duerdoth, I.P.; Etzion, E.; Fabbri, F.; Ferrari, P.; Fiedler, F.; Fleck, I.; Ford, M.; Frey, A.; Gagnon, P.; Gary, John William; Geich-Gimbel, C.; Giacomelli, G.; Giacomelli, P.; Giunta, Marina; Goldberg, J.; Gross, E.; Grunhaus, J.; Gruwe, M.; Gupta, A.; Hajdu, C.; Hamann, M.; Hanson, G.G.; Harel, A.; Hauschild, M.; Hawkes, C.M.; Hawkings, R.; Herten, G.; Heuer, R.D.; Hill, J.C.; Horvath, D.; Igo-Kemenes, P.; Ishii, K.; Jeremie, H.; Jovanovic, P.; Junk, T.R.; Kanzaki, J.; Karlen, D.; Kawagoe, K.; Kawamoto, T.; Keeler, R.K.; Kellogg, R.G.; Kennedy, B.W.; Kluth, S.; Kobayashi, T.; Kobel, M.; Komamiya, S.; Kramer, T.; Krasznahorkay, A., Jr.; Krieger, P.; von Krogh, J.; Kuhl, T.; Kupper, M.; Lafferty, G.D.; Landsman, H.; Lanske, D.; Lellouch, D.; Lettso, J.; Levinson, L.; Lillich, J.; Lloyd, S.L.; Loebinger, F.K.; Lu, J.; Ludwig, A.; Ludwig, J.; Mader, W.; Marcellini, S.; Martin, A.J.; Mashimo, T.; Mattig, Peter; McKenna, J.; McPherson, R.A.; Meijers, F.; Menges, W.; Merritt, F.S.; Mes, H.; Meyer, N.; Michelini, A.; Mihara, S.; Mikenberg, G.; Miller, D.J.; Mohr, W.; Mori, T.; Mutter, A.; Nagai, K.; Nakamura, I.; Nanjo, H.; Neal, H.A.; O'Neale, S.W.; Oh, A.; Oreglia, M.J.; Orito, S.; Pahl, C.; Pasztor, G.; Pater, J.R.; Pilcher, J.E.; Pinfold, J.; Plane, D.E.; Pooth, O.; Przybycien, M.; Quadt, A.; Rabbertz, K.; Rembser, C.; Renkel, P.; Roney, J.M.; Rossi, A.M.; Rozen, Y.; Runge, K.; Sachs, K.; Saeki, T.; Sarkisyan, E.K.G.; Schaile, A.D.; Schaile, O.; Scharff-Hansen, P.; Schieck, J.; Schorner-Sadenius, T.; Schroder, M.; Schumacher, M.; Seuster, R.; Shears, T.G.; Shen, B.C.; Sherwood, P.; Skuja, A.; Smith, A.M.; Sobie, R.; Soldner-Rembold, S.; Spano, F.; Stahl, A.; Strom, David M.; Strohmer, R.; Tarem, S.; Tasevsky, M.; Teuscher, R.; Thomson, M.A.; Torrence, E.; Toya, D.; Trigger, I.; Trocsanyi, Z.; Tsur, E.; Turner-Watson, M.F.; Ueda, I.; Ujvari, B.; Vollmer, C.F.; Vannerem, P.; Vertesi, R.; Verzocchi, M.; Voss, H.; Vossebeld, J.; Ward, C.P.; Ward, D.R.; Watkins, P.M.; Watson, A.T.; Watson, N.K.; Wells, P.S.; Wengler, T.; Wermes, N.; Wilson, G.W.; Wilson, J.A.; Wolf, G.; Wyatt, T.R.; Yamashita, S.; Zer-Zion, D.; Zivkovic, Lidija

2007-01-01

A study of Bose-Einstein correlations in pairs of identically charged pions produced in e+e- annihilations at the Z0 peak has been performed for the first time assuming a non-static emitting source. The results are based on the high statistics data obtained with the OPAL detector at LEP. The correlation functions have been analyzed in intervals of the average pair transverse momentum and of the pair rapidity, in order to study possible correlations between the pion production points and their momenta (position-momentum correlations). The Yano-Koonin and the Bertsch-Pratt parameterizations have been fitted to the measured correlation functions to estimate the geometrical parameters of the source as well as the velocity of the source elements with respect to the overall centre-of-mass frame. The source rapidity is found to scale approximately with the pair rapidity, and both the longitudinal and transverse source dimensions are found to decrease for increasing average pair transverse momenta.

The association between intelligence and lifespan is mostly genetic

DEFF Research Database (Denmark)

Arden, Rosalind; Luciano, Michelle; Deary, Ian J

2016-01-01

BACKGROUND: Several studies in the new field of cognitive epidemiology have shown that higher intelligence predicts longer lifespan. This positive correlation might arise from socioeconomic status influencing both intelligence and health; intelligence leading to better health behaviours; and....../or some shared genetic factors influencing both intelligence and health. Distinguishing among these hypotheses is crucial for medicine and public health, but can only be accomplished by studying a genetically informative sample. METHODS: We analysed data from three genetically informative samples...... containing information on intelligence and mortality: Sample 1, 377 pairs of male veterans from the NAS-NRC US World War II Twin Registry; Sample 2, 246 pairs of twins from the Swedish Twin Registry; and Sample 3, 784 pairs of twins from the Danish Twin Registry. The age at which intelligence was measured...

Genetic correlations between brain volumes and the WAIS-III dimensions of verbal comprehension, working memory, perceptual organization, and processing speed

NARCIS (Netherlands)

Posthuma, D.; Baare, W.F.C.; Hulshoff Pol, H.E.; Kahn, R.S.; Boomsma, D.I.; de Geus, E.J.C.

2003-01-01

We recently showed that the correlation of gray and white matter volume with full scale IQ and the Working Memory dimension are completely mediated by common genetic factors (Posthuma et al., 2002). Here we examine whether the other WAIS III dimensions (Verbal Comprehension, Perceptual Organization,

Genetic Correlations Greatly Increase Mutational Robustness and Can Both Reduce and Enhance Evolvability.

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Sam F Greenbury

2016-03-01

Full Text Available Mutational neighbourhoods in genotype-phenotype (GP maps are widely believed to be more likely to share characteristics than expected from random chance. Such genetic correlations should strongly influence evolutionary dynamics. We explore and quantify these intuitions by comparing three GP maps-a model for RNA secondary structure, the HP model for protein tertiary structure, and the Polyomino model for protein quaternary structure-to a simple random null model that maintains the number of genotypes mapping to each phenotype, but assigns genotypes randomly. The mutational neighbourhood of a genotype in these GP maps is much more likely to contain genotypes mapping to the same phenotype than in the random null model. Such neutral correlations can be quantified by the robustness to mutations, which can be many orders of magnitude larger than that of the null model, and crucially, above the critical threshold for the formation of large neutral networks of mutationally connected genotypes which enhance the capacity for the exploration of phenotypic novelty. Thus neutral correlations increase evolvability. We also study non-neutral correlations: Compared to the null model, i If a particular (non-neutral phenotype is found once in the 1-mutation neighbourhood of a genotype, then the chance of finding that phenotype multiple times in this neighbourhood is larger than expected; ii If two genotypes are connected by a single neutral mutation, then their respective non-neutral 1-mutation neighbourhoods are more likely to be similar; iii If a genotype maps to a folding or self-assembling phenotype, then its non-neutral neighbours are less likely to be a potentially deleterious non-folding or non-assembling phenotype. Non-neutral correlations of type i and ii reduce the rate at which new phenotypes can be found by neutral exploration, and so may diminish evolvability, while non-neutral correlations of type iii may instead facilitate evolutionary exploration

Genetic Correlations Greatly Increase Mutational Robustness and Can Both Reduce and Enhance Evolvability

Science.gov (United States)

Greenbury, Sam F.; Schaper, Steffen; Ahnert, Sebastian E.; Louis, Ard A.

2016-01-01

Mutational neighbourhoods in genotype-phenotype (GP) maps are widely believed to be more likely to share characteristics than expected from random chance. Such genetic correlations should strongly influence evolutionary dynamics. We explore and quantify these intuitions by comparing three GP maps—a model for RNA secondary structure, the HP model for protein tertiary structure, and the Polyomino model for protein quaternary structure—to a simple random null model that maintains the number of genotypes mapping to each phenotype, but assigns genotypes randomly. The mutational neighbourhood of a genotype in these GP maps is much more likely to contain genotypes mapping to the same phenotype than in the random null model. Such neutral correlations can be quantified by the robustness to mutations, which can be many orders of magnitude larger than that of the null model, and crucially, above the critical threshold for the formation of large neutral networks of mutationally connected genotypes which enhance the capacity for the exploration of phenotypic novelty. Thus neutral correlations increase evolvability. We also study non-neutral correlations: Compared to the null model, i) If a particular (non-neutral) phenotype is found once in the 1-mutation neighbourhood of a genotype, then the chance of finding that phenotype multiple times in this neighbourhood is larger than expected; ii) If two genotypes are connected by a single neutral mutation, then their respective non-neutral 1-mutation neighbourhoods are more likely to be similar; iii) If a genotype maps to a folding or self-assembling phenotype, then its non-neutral neighbours are less likely to be a potentially deleterious non-folding or non-assembling phenotype. Non-neutral correlations of type i) and ii) reduce the rate at which new phenotypes can be found by neutral exploration, and so may diminish evolvability, while non-neutral correlations of type iii) may instead facilitate evolutionary exploration and so

Genetic Variation in Past and Current Landscapes: Conservation Implications Based on Six Endemic Florida Scrub Plants

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Eric S. Menges

2010-01-01

Full Text Available If genetic variation is often positively correlated with population sizes and the presence of nearby populations and suitable habitats, landscape proxies could inform conservation decisions without genetic analyses. For six Florida scrub endemic plants (Dicerandra frutescens, Eryngium cuneifolium, Hypericum cumulicola, Liatris ohlingerae, Nolina brittoniana, and Warea carteri, we relate two measures of genetic variation, expected heterozygosity and alleles per polymorphic locus (APL, to population size and landscape variables. Presettlement areas were estimated based on soil preferences and GIS soils maps. Four species showed no genetic patterns related to population or landscape factors. The other two species showed significant but inconsistent patterns. For Liatris ohlingerae, APL was negatively related to population density and weakly, positively related to remaining presettlement habitat within 32 km. For Nolina brittoniana, APL increased with population size. The rather weak effects of population area/size and both past and current landscape structures suggest that genetic variation needs to be directly measured and not inferred for conservation planning.

Genetic Variation in Past and Current Landscapes: Conservation Implications Based on Six Endemic Florida Scrub Plants

International Nuclear Information System (INIS)

Menges, E.S.; Pickert, R.; Dolan, R.W.; Yahr, R.; Gordon, D.R.

2010-01-01

If genetic variation is often positively correlated with population sizes and the presence of nearby populations and suitable habitats, landscape proxies could inform conservation decisions without genetic analyses. For six Florida scrub endemic plants (Dicerandra frutescens, Eryngium cuneifolium, Hypericum cumulicola, Liatris ohlingerae, Nolina brittoniana, and Warea carteri), we relate two measures of genetic variation, expected heterozygosity and alleles per polymorphic locus (APL), to population size and landscape variables. Presettlement areas were estimated based on soil preferences and GIS soils maps. Four species showed no genetic patterns related to population or landscape factors. The other two species showed significant but inconsistent patterns. For Liatris ohlingerae, APL was negatively related to population density and weakly, positively related to remaining presettlement habitat within 32 km. For Nolina brittoniana, APL increased with population size. The rather weak effects of population area/size and both past and current landscape structures suggest that genetic variation needs to be directly measured and not inferred for conservation planning.

A strong response to selection on mass-independent maximal metabolic rate without a correlated response in basal metabolic rate.

Science.gov (United States)

Wone, B W M; Madsen, P; Donovan, E R; Labocha, M K; Sears, M W; Downs, C J; Sorensen, D A; Hayes, J P

2015-04-01

Metabolic rates are correlated with many aspects of ecology, but how selection on different aspects of metabolic rates affects their mutual evolution is poorly understood. Using laboratory mice, we artificially selected for high maximal mass-independent metabolic rate (MMR) without direct selection on mass-independent basal metabolic rate (BMR). Then we tested for responses to selection in MMR and correlated responses to selection in BMR. In other lines, we antagonistically selected for mice with a combination of high mass-independent MMR and low mass-independent BMR. All selection protocols and data analyses included body mass as a covariate, so effects of selection on the metabolic rates are mass adjusted (that is, independent of effects of body mass). The selection lasted eight generations. Compared with controls, MMR was significantly higher (11.2%) in lines selected for increased MMR, and BMR was slightly, but not significantly, higher (2.5%). Compared with controls, MMR was significantly higher (5.3%) in antagonistically selected lines, and BMR was slightly, but not significantly, lower (4.2%). Analysis of breeding values revealed no positive genetic trend for elevated BMR in high-MMR lines. A weak positive genetic correlation was detected between MMR and BMR. That weak positive genetic correlation supports the aerobic capacity model for the evolution of endothermy in the sense that it fails to falsify a key model assumption. Overall, the results suggest that at least in these mice there is significant capacity for independent evolution of metabolic traits. Whether that is true in the ancestral animals that evolved endothermy remains an important but unanswered question.

GONOME: measuring correlations between GO terms and genomic positions

Directory of Open Access Journals (Sweden)

Bailey Timothy L

2006-02-01

Full Text Available Abstract Background: Current methods to find significantly under- and over-represented gene ontology (GO terms in a set of genes consider the genes as equally probable "balls in a bag", as may be appropriate for transcripts in micro-array data. However, due to the varying length of genes and intergenic regions, that approach is inappropriate for deciding if any GO terms are correlated with a set of genomic positions. Results: We present an algorithm – GONOME – that can determine which GO terms are significantly associated with a set of genomic positions given a genome annotated with (at least the starts and ends of genes. We show that certain GO terms may appear to be significantly associated with a set of randomly chosen positions in the human genome if gene lengths are not considered, and that these same terms have been reported as significantly over-represented in a number of recent papers. This apparent over-representation disappears when gene lengths are considered, as GONOME does. For example, we show that, when gene length is taken into account, the term "development" is not significantly enriched in genes associated with human CpG islands, in contradiction to a previous report. We further demonstrate the efficacy of GONOME by showing that occurrences of the proteosome-associated control element (PACE upstream activating sequence in the S. cerevisiae genome associate significantly to appropriate GO terms. An extension of this approach yields a whole-genome motif discovery algorithm that allows identification of many other promoter sequences linked to different types of genes, including a large group of previously unknown motifs significantly associated with the terms 'translation' and 'translational elongation'. Conclusion: GONOME is an algorithm that correctly extracts over-represented GO terms from a set of genomic positions. By explicitly considering gene size, GONOME avoids a systematic bias toward GO terms linked to large genes

Correlated genetic effects on reproduction define a domestication syndrome in a forest tree

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Santos-del-Blanco, Luis; Alía, Ricardo; González-Martínez, Santiago C; Sampedro, Luis; Lario, Francisco; Climent, José

2015-01-01

Compared to natural selection, domestication implies a dramatic change in traits linked to fitness. A number of traits conferring fitness in the wild might be detrimental under domestication, and domesticated species typically differ from their ancestors in a set of traits known as the domestication syndrome. Specifically, trade-offs between growth and reproduction are well established across the tree of life. According to allocation theory, selection for growth rate is expected to indirectly alter life-history reproductive traits, diverting resources from reproduction to growth. Here we tested this hypothesis by examining the genetic change and correlated responses of reproductive traits as a result of selection for timber yield in the tree Pinus pinaster. Phenotypic selection was carried out in a natural population, and progenies from selected trees were compared with those of control trees in a common garden experiment. According to expectations, we detected a genetic change in important life-history traits due to selection. Specifically, threshold sizes for reproduction were much higher and reproductive investment relative to size significantly lower in the selected progenies just after a single artificial selection event. Our study helps to define the domestication syndrome in exploited forest trees and shows that changes affecting developmental pathways are relevant in domestication processes of long-lived plants. PMID:25926884

Genetic features of circular bacteriocins produced by Gram-positive bacteria

NARCIS (Netherlands)

Maqueda, Mercedes; Sánchez-Hidalgo, Marina; Fernández, Matilde; Montalbán-López, Manuel; Valdivia, Eva; Martínez-Bueno, Manuel

This review highlights the main genetic features of circular bacteriocins, which require the co-ordinated expression of several genetic determinants. In general terms, it has been demonstrated that the expression of such structural genes must be combined with the activity of proteins involved in

Correlation of the highest-energy cosmic rays with the positions of nearby active galactic nuclei

NARCIS (Netherlands)

Abraham, J.; Abreu, P.; Aglietta, M.; Aguirre, C.; Allard, D.; Allekotte, I.; Allen, J.; Allison, P.; Alvarez-Muniz, J.; Ambrosio, M.; Anchordoqui, L.; Andringa, S.; Anzalone, A.; Aramo, C.; Argiro, S.; Arisaka, K.; Armengaud, E.; Arneodo, F.; Arqueros, F.; Asch, T.; Asorey, H.; Assis, P.; Atulugama, B. S.; Aublin, J.; Ave, M.; Avila, G.; Baecker, T.; Badagnani, D.; Barbosa, A. F.; Barnhill, D.; Barroso, S. L. C.; Bauleo, P.; Beatty, J. J.; Beau, T.; Becker, B. R.; Becker, K. H.; Bellido, J. A.; BenZvi, S.; Berat, C.; Bergmann, T.; Bernardini, P.; Bertou, X.; Biermann, P. L.; Billoir, P.; Blanch-Bigas, O.; Blanco, F.; Blasi, P.; Bleve, C.; Bluemer, H.; Bohacova, M.; Bonifazi, C.; Bonino, R.; Brack, J.; Brogueira, P.; Brown, W. C.; Buchholz, P.; Bueno, A.; Burton, R. E.; Busca, N. G.; Caballero-Mora, K. S.; Cai, B.; Camin, D. V.; Caramete, L.; Caruso, R.; Carvalho, W.; Castellina, A.; Catalano, O.; Cataldi, G.; Cazon, L.; Cester, R.; Chauvin, J.; Chiavassa, A.; Chinellato, J. A.; Chou, A.; Chye, J.; Clay, R. W.; Colombo, E.; Conceicao, R.; Connolly, B.; Contreras, F.; Coppens, J.; Cordier, A.; Cotti, U.; Coutu, S.; Covault, C. E.; Creusot, A.; Criss, A.; Cronin, J.; Curutiu, A.; Dagoret-Campagne, S.; Daumiller, K.; Dawson, B. R.; de Almeida, R. M.; De Donato, C.; Bg, S. J. de Jong; De La Vega, G.; de Mello, W. J. M.; de Mello Neto, J. R. T.; De Mitri, I.; de Souza, V.; del Peral, L.; Deligny, O.; Della Selva, A.; Delle Fratte, C.; Dembinski, H.; Di Giulio, C.; Diaz, J. C.; Diep, P. N.; Dobrigkeit, C.; D'Olivo, J. C.; Dong, P. N.; Dornic, D.; Dorofeev, A.; dos Anjos, J. C.; Dova, M. T.; D'Urso, D.; Dutan, I.; DuVernois, M. A.; Engel, R.; Epele, L.; Escobar, C. O.; Etchegoyen, A.; Luis, P. Facal San; Falcke, H.; Farrar, G.; Fauth, A. C.; Fazzini, N.; Ferrer, F.; Ferry, S.; Fick, B.; Filevich, A.; Filipcic, A.; Fleck, I.; Fracchiolla, C. E.; Fulgione, W.; Garcia, B.; Gaimez, D. Garcia; Garcia-Pinto, D.; Garrido, X.; Geenen, H.; Gelmini, G.; Gemmeke, H.; Ghia, P. L.; Giller, M.; Glass, H.; Gold, M. S.; Golup, G.; Albarracin, F. Gomez; Berisso, M. Gomez; Herrero, R. Gomez; Goncalves, P.; do Amaral, M. Goncalves; Gonzalez, D.; Gonzalezc, J. G.; Gonzalez, M.; Gora, D.; Gorgi, A.; Gouffon, P.; Grassi, V.; Grillo, A. F.; Grunfeld, C.; Guardincerri, Y.; Guarino, F.; Guedes, G. P.; Gutierrez, J.; Hague, J. D.; Hamilton, J. C.; Hansen, P.; Harari, D.; Harmsma, S.; Harton, J. L.; Haungs, A.; Hauschildt, T.; Healy, M. D.; Hebbeker, T.; Hebrero, G.; Heck, D.; Hojvat, C.; Holmes, V. C.; Homola, P.; Hoerandel, J.; Horneffer, A.; Horvat, M.; Hrabovsky, M.; Huege, T.; Hussain, M.; Larlori, M.; Insolia, A.; Ionita, F.; Italiano, A.; Kaducak, M.; Kampert, K. H.; Karova, T.; Kegl, B.; Keilhauer, B.; Kemp, E.; Kieckhafer, R. M.; Klages, H. O.; Kleifges, M.; Kleinfeller, J.; Knapik, R.; Knapp, J.; Koanga, V. -H.; Krieger, A.; Kroemer, O.; Kuempel, D.; Kunka, N.; Kusenko, A.; La Rosa, G.; Lachaud, C.; Lago, B. L.; Lebrun, D.; LeBrun, P.; Lee, J.; de Oliveira, M. A. Leigui; Lopez, R.; Letessier-Selvon, A.; Leuthold, M.; Lhenry-Yvon, I.; Aguera, A. Lopez; Bahilo, J. Lozano; Garcia, R. Luna; Maccarone, M. C.; Macolino, C.; Maldera, S.; Mancarella, G.; Mancenido, M. E.; Mandatat, D.; Mantsch, P.; Mariazzi, A. G.; Maris, I. C.; Falcon, H. R. Marquez; Martello, D.; Martinez, J.; Bravo, O. Martinez; Mathes, H. J.; Matthews, J.; Matthews, J. A. J.; Matthiae, G.; Maurizio, D.; Mazur, P. O.; McCauley, T.; McEwen, M.; McNeil, R. R.; Medina, M. C.; Medina-Tanco, G.; Meli, A.; Melo, D.; Menichetti, E.; Menschikov, A.; Meurer, Chr.; Meyhandan, R.; Micheletti, M. I.; Miele, G.; Miller, W.; Mollerach, S.; Monasor, M.; Ragaigne, D. Monnier; Montanet, F.; Morales, B.; Morello, C.; Moreno, J. C.; Morris, C.; Mostafa, M.; Muller, M. A.; Mussa, R.; Navarra, G.; Navarro, J. L.; Navas, S.; Necesal, P.; Nellen, L.; Newman-Holmes, C.; Newton, D.; Nhung, P. T.; Nierstenhoefer, N.; Nitz, D.; Nosek, D.; Nozka, L.; Oehlschlaeger, J.; Ohnuki, T.; Olinto, A.; Olmos-Gilbaja, V. M.; Ortiz, M.; Ortolani, F.; Ostapchenko, S.; Otero, L.; Pacheco, N.; Selmi-Dei, D. Pakk; Palatka, M.; Pallotta, J.; Parente, G.; Parizot, E.; Parlati, S.; Pastor, S.; Patel, M.; Paul, T.; Pavlidou, V.; Payet, K.; Pech, M.; Pekala, J.; Pelayo, R.; Pepe, I. M.; Perrone, L.; Petrera, S.; Petrinca, P.; Petrov, Y.; Pichel, A.; Piegaia, R.; Pierog, T.; Pimenta, M.; Pinto, T.; Pirronello, V.; Pisanti, O.; Platino, M.; Pochon, J.; Privitera, P.; Prouza, M.; Quel, E. J.; Rautenberg, J.; Redondo, A.; Reucroft, S.; Revenu, B.; Rezende, F. A. S.; Ridky, J.; Riggi, S.; Risse, M.; Riviere, C.; Rizi, V.; Roberts, M.; Robledo, C.; Rodriguez, G.; Martino, J. Rodriguez; Rojo, J. Rodriguez; Rodriguez-Cabo, I.; Rodriguez-Frias, M. D.; Ros, G.; Rosado, J.; Roth, M.; Rouille-d'Orfeuil, B.; Roulet, E.; Roverok, A. C.; Salamida, F.; Salazar, H.; Salina, G.; Sanchez, F.; Santander, M.; Santo, C. E.; Santos, E. M.; Sarazin, F.; Sarkar, S.; Sato, R.; Scherini, V.; Schieler, H.; Schmidt, A.; Schmidt, F.; Schmidt, T.; Scholten, O.; Schovanek, P.; Schuessler, F.; Sciutto, S. J.; Scuderi, M.; Segreto, A.; Semikoz, D.; Settimo, M.; Shellard, R. C.; Sidelnik, I.; Siffert, B. B.; Sigl, G.; De Grande, N. Smetniansky; Smialkowski, A.; Smida, R.; Smith, A. G. K.; Smith, B. E.; Snow, G. R.; Sokolsky, P.; Sommers, P.; Sorokin, J.; Spinka, H.; Squartini, R.; Strazzeri, E.; Stutz, A.; Suarez, F.; Suomijarvi, T.; Supanitsky, A. D.; Sutherland, M. S.; Swain, J.; Szadkowski, Z.; Takahashi, J.; Tamashiro, A.; Tamburro, A.; Tascau, O.; Tcaciuc, R.; Thao, N. T.; Thomas, D.; Ticona, R.; Tiffenberg, J.; Timmermans, C.; Tkaczyk, W.; Peixoto, C. J. Todero; Tome, B.; Tonachini, A.; Torres, I.; Travnicek, P.; Tripathi, A.; Tristram, G.; Tscherniakhovski, D.; Tueros, M.; Ulrich, R.; Unger, M.; Urban, M.; Galicia, J. F. Valdes; Valino, I.; Valore, L.; van den Berg, A. M.; van Elewyck, V.; Vazquez, R. A.; Veberic, D.; Veiga, A.; Velarde, A.; Venters, T.; Verzi, V.; Videla, M.; Villasenor, L.; Vorobiov, S.; Voyvodic, L.; Wahlberg, H.; Wainberg, O.; Warner, D.; Watson, A. A.; Westerhoff, S.; Wieczorek, G.; Wiencke, L.; Wilczynska, B.; Wilczynski, H.; Wileman, C.; Winnick, M. G.; Wu, H.; Wundheiler, B.; Yamamoto, T.; Younk, P.; Zas, E.; Zavrtanik, D.; Zavrtanik, M.; Zech, A.; Zepeda, A.; Ziolkowski, M.

Data collected by the Pierre Auger Observatory provide evidence for anisotropy in the arrival directions of the cosmic rays with the highest-energies, which are correlated with the positions of relatively nearby active galactic nuclei (AGN) [Pierre Auger Collaboration, Science 318 (2007) 938]. The

Increasing Public Awareness of Direct-to-Consumer Genetic Tests: Health Care Access, Internet Use, and Population Density Correlates.

Science.gov (United States)

Finney Rutten, Lila J; Gollust, Sarah E; Naveed, Sana; Moser, Richard P

2012-01-01

Uncertainty around the value of and appropriate regulatory models for direct-to-consumer (DTC) genetic testing underscores the importance of tracking public awareness of these services. We analyzed nationally representative, cross-sectional data from the Health Information National Trends Survey in 2008 (n = 7, 674) and 2011 (n = 3, 959) to assess population-level changes in awareness of DTC genetic testing in the U.S. and to explore sociodemographic, health care, Internet use, and population density correlates. Overall, awareness increased significantly from 29% in 2008 to 37% in 2011. The observed increase in awareness from 2008 to 2011 remained significant (OR = 1.39) even when adjusted for sociodemographic variables, health care access, Internet use, and population density. Independent of survey year, the odds of awareness of DTC genetic tests were significantly higher for those aged 50-64 (OR = 1.64), and 65-74 (OR = 1.60); college graduates (OR = 2.02); those with a regular source of health care (OR = 1.27); those with a prior cancer diagnosis (OR = 1.24); those who use the Internet (OR = 1.27); and those living in urban areas (OR = 1.25). Surveillance of awareness-along with empirical data on use of and response to genetic risk information-can inform public health and policy efforts to maximize benefits and minimize risks of DTC genetic testing.

Increasing Public Awareness of Direct-to-Consumer Genetic Tests: Health Care Access, Internet Use, and Population Density Correlates

International Nuclear Information System (INIS)

Rutten, L. J. F.; Gollust, S. E.; Naveed, S.; Moser, R. P.

2012-01-01

Uncertainty around the value of and appropriate regulatory models for direct-to-consumer (DTC) genetic testing underscores the importance of tracking public awareness of these services. We analyzed nationally representative, cross-sectional data from the Health Information National Trends Survey in 2008 (n=7, 674) and 2011 (n=3, 959) to assess population-level changes in awareness of DTC genetic testing in the U.S. and to explore socio demographic, health care, Internet use, and population density correlates. Overall, awareness increased significantly from 29% in 2008 to 37% in 2011. The observed increase in awareness from 2008 to 2011 remained significant (OR=1.39) even when adjusted for socio demographic variables, health care access, Internet use, and population density. Independent of survey year, the odds of awareness of DTC genetic tests were significantly higher for those aged 50-64 (OR=1.64), and 65-74 (O R=1.60); college graduates (OR=2.02 ); those with a regular source of health care (OR=1.27); those with a prior cancer diagnosis (OR=1.24); those who use the Internet (OR=1.27); and those living in urban areas ( OR=1.25). Surveillance of awareness-along with empirical data on use of and response to genetic risk information-can inform public health and policy efforts to maximize benefits and minimize risks of DTC genetic testing.

Increasing Public Awareness of Direct-to-Consumer Genetic Tests: Health Care Access, Internet Use, and Population Density Correlates

Directory of Open Access Journals (Sweden)

Lila J. Finney Rutten

2012-01-01

Full Text Available Uncertainty around the value of and appropriate regulatory models for direct-to-consumer (DTC genetic testing underscores the importance of tracking public awareness of these services. We analyzed nationally representative, cross-sectional data from the Health Information National Trends Survey in 2008 (n=7,674 and 2011 (n=3,959 to assess population-level changes in awareness of DTC genetic testing in the U.S. and to explore sociodemographic, health care, Internet use, and population density correlates. Overall, awareness increased significantly from 29% in 2008 to 37% in 2011. The observed increase in awareness from 2008 to 2011 remained significant (OR=1.39 even when adjusted for sociodemographic variables, health care access, Internet use, and population density. Independent of survey year, the odds of awareness of DTC genetic tests were significantly higher for those aged 50–64 (OR=1.64, and 65–74 (OR=1.60; college graduates (OR=2.02; those with a regular source of health care (OR=1.27; those with a prior cancer diagnosis (OR=1.24; those who use the Internet (OR=1.27; and those living in urban areas (OR=1.25. Surveillance of awareness—along with empirical data on use of and response to genetic risk information—can inform public health and policy efforts to maximize benefits and minimize risks of DTC genetic testing.

Metabolism, growth, and the energetic definition of fitness: a quantitative genetic study in the land snail Cornu aspersum.

Science.gov (United States)

Bruning, Andrea; Gaitán-Espitia, Juan Diego; González, Avia; Bartheld, José Luis; Nespolo, Roberto F

2013-01-01

Life-history evolution-the way organisms allocate time and energy to reproduction, survival, and growth-is a central question in evolutionary biology. One of its main tenets, the allocation principle, predicts that selection will reduce energy costs of maintenance in order to divert energy to survival and reproduction. The empirical support for this principle is the existence of a negative relationship between fitness and metabolic rate, which has been observed in some ectotherms. In juvenile animals, a key function affecting fitness is growth rate, since fast growers will reproduce sooner and maximize survival. In principle, design constraints dictate that growth rate cannot be reduced without affecting maintenance costs. Hence, it is predicted that juveniles will show a positive relationship between fitness (growth rate) and metabolic rate, contrarily to what has been observed in adults. Here we explored this problem using land snails (Cornu aspersum). We estimated the additive genetic variance-covariance matrix for growth and standard metabolic rate (SMR; rate of CO2 production) using 34 half-sibling families. We measured eggs, hatchlings, and juveniles in 208 offspring that were isolated right after egg laying (i.e., minimizing maternal and common environmental variance). Surprisingly, our results showed that additive genetic effects (narrow-sense heritabilities, h(2)) and additive genetic correlations (rG) were small and nonsignificant. However, the nonadditive proportion of phenotypic variances and correlations (rC) were unexpectedly large and significant. In fact, nonadditive genetic effects were positive for growth rate and SMR ([Formula: see text]; [Formula: see text]), supporting the idea that fitness (growth rate) cannot be maximized without incurring maintenance costs. Large nonadditive genetic variances could result as a consequence of selection eroding the additive genetic component, which suggests that past selection could have produced nonadditive

Genetic parameters of methane emissions determined using portable accumulation chambers in lambs and ewes grazing pasture and genetic correlations with emissions determined in respiration chambers.

Science.gov (United States)

Jonker, A; Hickey, S M; Rowe, S J; Janssen, P H; Shackell, G; Elmes, S; Bain, W E; Wing, J; Greer, G J; Bryson, B; MacLean, S; Dodds, K G; Pinares-Patiño, C S; Young, E A; Knowler, K; Pickering, N K; McEwan, J C

2018-05-07

Methane (CH4) emission traits were previously found to be heritable and repeatable in sheep fed alfalfa pellets in respiration chambers (RC). More rapid screening methods are, however, required to increase genetic progress and to provide a cost effective method to the farming industry for maintaining the generation of breeding values in the future. The objective of the current study was to determine CH4 and carbon dioxide (CO2) emissions using several one-hour portable accumulation chamber (PAC) measurements from lambs and again as ewes, while grazing ryegrass based pasture. Many animals with PAC measurements were also measured in RC while fed alfalfa pellets at 2.0 × maintenance metabolizable energy requirements (MEm). Heritability estimates from mixed models for CH4 and CO2 production (g/d) were 0.19 and 0.16, respectively, when measured using PAC with lambs; 0.20 and 0.27, respectively, when measured using PAC with ewes; and 0.23 and 0.34, respectively, when measured using RC with lambs. For measured gas traits, repeatabilities of measurements collected 14 days apart ranged from 0.33 to 0.55 for PAC (combined lambs and ewes) and were greater at 0.65 to 0.76 for the same traits measured using RC. Genetic correlations (rg) between PAC in lambs and ewes were 0.99 for CH4, 0.93 for CH4+CO2 and 0.85 for CH4/(CH4+CO2), suggesting CH4 emissions in lambs and ewes are the same trait. Genetic correlations between PAC and RC measurements were lower, at 0.62 to 0.67 for CH4 and 0.41 to 0.42 for CH4+CO2, likely reflecting different environmental conditions associated with the protocols used with the two measurement methods. The CH4/(CH4+CO2) ratio was the most similar genetic trait measured using PAC (both lambs and ewes, 63 and 66% selection efficiency, respectively) compared with CH4 yield (g/kg DMI) measured using RC. These results suggest that PAC measurements have considerable value as a rapid low cost method to estimate breeding values for CH4 emissions in sheep.

Isolation of coagulase-positive staphylococci from bitches' colostrum and milk and genetic typing of methicillin-resistant Staphylococcus pseudintermedius strains.

Science.gov (United States)

Rota, Ada; Corrò, Michela; Drigo, Ilenia; Bortolami, Alessio; Börjesson, Stefan

2015-07-23

Among the coagulase-positive, potentially pathogenic staphylococci, Staphylococcus pseudintermedius has been frequently isolated from bitches' milk. This organism colonizes the mammary gland or causes infection, while S. aureus has been only occasionally reported. The objective of this study was to investigate the occurrence and persistence of coagulase-positive staphylococci in the colostrum and milk of postpartum bitches, either treated or untreated with antimicrobials, and to assess the incidence, antibiotic resistance profile and genetic type of the methicillin-resistant strains. On postpartum D1, D7 and D15, drops of secretion were collected from the mammary glands of 27 postpartum bitches, nine of which were treated with antimicrobials. Coagulase-positive staphylococci were identified, antimicrobial susceptibility and the presence of mecA were tested and the genetic profile of methicillin-resistant strains was assessed. Staphylococcus pseudintermedius was the only coagulase-positive staphylococcus isolated, and its presence was detected in 21 out of 27 bitches and in 66 out of 145 swabs. In a single bitch, it caused puerperal mastitis. In untreated bitches, the frequency of isolation was lower in colostrum than in milk. All of the isolates except one were resistant to at least three antimicrobial classes, while 14 out of 66 S. pseudintermedius strains were methicillin-resistant mecA positive (MRSP) and were isolated from eight bitches housed in the same breeding kennel. A significant association was found between antimicrobial treatment and the presence of MRSP. Six of the 12 typed isolates belonged to spa-type t02 carrying SCCmec II/III, and another six were non-typeable with spa carrying SCCmec IV. The t02-SCCmec II/III isolates were sequence type (ST) 71; four NT-SCCmec IV isolates were ST258 and two were ST369. PFGE showed that isolates from the same dog had identical band patterns, while isolates from different dogs had unique band patterns. MRSP strains

Habitat adaptation rather than genetic distance correlates with female preference in fire salamanders (Salamandra salamandra

Directory of Open Access Journals (Sweden)

Weitere Markus

2009-06-01

Full Text Available Abstract Background Although some mechanisms of habitat adaptation of conspecific populations have been recently elucidated, the evolution of female preference has rarely been addressed as a force driving habitat adaptation in natural settings. Habitat adaptation of fire salamanders (Salamandra salamandra, as found in Middle Europe (Germany, can be framed in an explicit phylogeographic framework that allows for the evolution of habitat adaptation between distinct populations to be traced. Typically, females of S. salamandra only deposit their larvae in small permanent streams. However, some populations of the western post-glacial recolonization lineage use small temporary ponds as larval habitats. Pond larvae display several habitat-specific adaptations that are absent in stream-adapted larvae. We conducted mate preference tests with females from three distinct German populations in order to determine the influence of habitat adaptation versus neutral genetic distance on female mate choice. Two populations that we tested belong to the western post-glacial recolonization group, but are adapted to either stream or pond habitats. The third population is adapted to streams but represents the eastern recolonization lineage. Results Despite large genetic distances with FST values around 0.5, the stream-adapted females preferred males from the same habitat type regardless of genetic distance. Conversely, pond-adapted females did not prefer males from their own population when compared to stream-adapted individuals of either lineage. Conclusion A comparative analysis of our data showed that habitat adaptation rather than neutral genetic distance correlates with female preference in these salamanders, and that habitat-dependent female preference of a specific pond-reproducing population may have been lost during adaptation to the novel environmental conditions of ponds.

HLA-DRB1 Analysis Identified a Genetically Unique Subset within Rheumatoid Arthritis and Distinct Genetic Background of Rheumatoid Factor Levels from Anticyclic Citrullinated Peptide Antibodies.

Science.gov (United States)

Hiwa, Ryosuke; Ikari, Katsunori; Ohmura, Koichiro; Nakabo, Shuichiro; Matsuo, Keitaro; Saji, Hiroh; Yurugi, Kimiko; Miura, Yasuo; Maekawa, Taira; Taniguchi, Atsuo; Yamanaka, Hisashi; Matsuda, Fumihiko; Mimori, Tsuneyo; Terao, Chikashi

2018-04-01

HLA-DRB1 is the most important locus associated with rheumatoid arthritis (RA) and anticitrullinated protein antibodies (ACPA). However, fluctuations of rheumatoid factor (RF) over the disease course have made it difficult to define fine subgroups according to consistent RF positivity for the analyses of genetic background and the levels of RF. A total of 2873 patients with RA and 2008 healthy controls were recruited. We genotyped HLA-DRB1 alleles for the participants and collected consecutive data of RF in the case subjects. In addition to RF+ and RF- subsets, we classified the RF+ subjects into group 1 (constant RF+) and group 2 (seroconversion). We compared HLA-DRB1 alleles between the RA subsets and controls and performed linear regression analysis to identify HLA-DRB1 alleles associated with maximal RF levels. Omnibus tests were conducted to assess important amino acid positions. RF positivity was 88%, and 1372 and 970 RF+ subjects were classified into groups 1 and 2, respectively. RF+ and RF- showed similar genetic associations to ACPA+ and ACPA- RA, respectively. We found that shared epitope (SE) was more enriched in group 2 than 1, p = 2.0 × 10 -5 , and that amino acid position 11 showed a significant association between 1 and 2, p = 2.7 × 10 -5 . These associations were independent of ACPA positivity. SE showed a tendency to be negatively correlated with RF titer (p = 0.012). HLA-DRB1*09:01, which reduces ACPA titer, was not associated with RF levels (p = 0.70). The seroconversion group was shown to have distinct genetic characteristics. The genetic architecture of RF levels is different from that of ACPA.

Dominance genetic variance for traits under directional selection in Drosophila serrata.

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Sztepanacz, Jacqueline L; Blows, Mark W

2015-05-01

In contrast to our growing understanding of patterns of additive genetic variance in single- and multi-trait combinations, the relative contribution of nonadditive genetic variance, particularly dominance variance, to multivariate phenotypes is largely unknown. While mechanisms for the evolution of dominance genetic variance have been, and to some degree remain, subject to debate, the pervasiveness of dominance is widely recognized and may play a key role in several evolutionary processes. Theoretical and empirical evidence suggests that the contribution of dominance variance to phenotypic variance may increase with the correlation between a trait and fitness; however, direct tests of this hypothesis are few. Using a multigenerational breeding design in an unmanipulated population of Drosophila serrata, we estimated additive and dominance genetic covariance matrices for multivariate wing-shape phenotypes, together with a comprehensive measure of fitness, to determine whether there is an association between directional selection and dominance variance. Fitness, a trait unequivocally under directional selection, had no detectable additive genetic variance, but significant dominance genetic variance contributing 32% of the phenotypic variance. For single and multivariate morphological traits, however, no relationship was observed between trait-fitness correlations and dominance variance. A similar proportion of additive and dominance variance was found to contribute to phenotypic variance for single traits, and double the amount of additive compared to dominance variance was found for the multivariate trait combination under directional selection. These data suggest that for many fitness components a positive association between directional selection and dominance genetic variance may not be expected. Copyright © 2015 by the Genetics Society of America.

Correlative Studies in Clinical Trials: A Position Statement From the International Thyroid Oncology Group.

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Bible, Keith C; Cote, Gilbert J; Demeure, Michael J; Elisei, Rossella; Jhiang, Sissy; Ringel, Matthew D

2015-12-01

Patients with progressive thyroid cancer in distant metastatic sites represent a population with a need for new therapeutic options. Aspiring to improve the treatment of such patients, the objective of this position statement from the International Thyroid Oncology Group (ITOG) is to clarify the importance of incorporating high-quality correlative studies into clinical trials. ITOG was formed to develop and support high-quality multicenter and multidisciplinary clinical trials for patients with aggressive forms of thyroid cancer. The Correlative Sciences Committee of the ITOG focuses on the quality and types of correlative studies included in ITOG-associated clinical trials. This document represents expert consensus from ITOG regarding this issue based on extensive collective experience in clinical and translational trials informed by basic science. The Correlative Studies Committee identified an international writing group representative of diverse specialties, including basic sciences. Drafts were reviewed by all members of the writing group, the larger committee, and the ITOG board. After consideration of all comments by the writing group and modification of the document, the final document was then approved by the authors and the ITOG board. High-quality correlative studies, which include variety in the types of correlates, should be intrinsic to the design of thyroid cancer clinical trials to offer the best opportunity for each study to advance treatment for patients with advanced and progressive thyroid cancer.

Strategies for MCMC computation in quantitative genetics

DEFF Research Database (Denmark)

Waagepetersen, Rasmus; Ibanez, Noelia; Sorensen, Daniel

2006-01-01

Given observations of a trait and a pedigree for a group of animals, the basic model in quantitative genetics is a linear mixed model with genetic random effects. The correlation matrix of the genetic random effects is determined by the pedigree and is typically very highdimensional but with a sp......Given observations of a trait and a pedigree for a group of animals, the basic model in quantitative genetics is a linear mixed model with genetic random effects. The correlation matrix of the genetic random effects is determined by the pedigree and is typically very highdimensional...

Genetic and phenotypic relationships of feeding behavior and temperament with performance, feed efficiency, ultrasound, and carcass merit of beef cattle.

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Nkrumah, J D; Crews, D H; Basarab, J A; Price, M A; Okine, E K; Wang, Z; Li, C; Moore, S S

2007-10-01

Feeding behavior and temperament may be useful in genetic evaluations either as indicator traits for other economically relevant traits or because the behavior traits may have a direct economic value. We determined the variation in feeding behavior and temperament of beef cattle sired by Angus, Charolais, or Hybrid bulls and evaluated their associations with performance, efficiency, and carcass merit. The behavior traits were daily feeding duration, feeding head down (HD) time, feeding frequency (FF), and flight speed (FS, as a measure of temperament). A pedigree file of 813 animals forming 28 paternal half-sib families with about 20 progeny per sire was used. Performance, feeding behavior, and efficiency records were available on 464 animals of which 381 and 302 had records on carcass merit and flight speed, respectively. Large SE reflect the number of animals used. Direct heritability estimates were 0.28 +/- 0.12 for feeding duration, 0.33 +/- 0.12 for HD, 0.38 +/- 0.13 for FF, and 0.49 +/- 0.18 for FS. Feeding duration had a weak positive genetic (r(g)) correlation with HD (r(g) = 0.25 +/- 0.32) and FS (r(g) = 0.42 +/- 0.26) but a moderate negative genetic correlation with FF (r(g) = -0.40 +/- 0.30). Feeding duration had positive phenotypic (r(p)) and genetic correlations with DMI (r(p) = 0.27; r(g) = 0.56 +/- 0.20) and residual feed intake (RFI; r(p) = 0.49; r(g) = 0.57 +/- 0.28) but was unrelated phenotypically with feed conversion ratio [FCR; which is the reciprocal of the efficiency of growth (G:F)]. Feeding duration was negatively correlated with FCR (r(g) = -0.25 +/- 0.29). Feeding frequency had a moderate to high negative genetic correlation with DMI (r(g) = -0.74 +/- 0.15), FCR (r(g) = -0.52 +/- 0.21), and RFI (r(g) = -0.77 +/- 0.21). Flight speed was negatively correlated phenotypically with DMI (r(p) = -0.35) but was unrelated phenotypically with FCR or RFI. On the other hand, FS had a weak negative genetic correlation with DMI (r(g) = -0.11 +/- 0

On the Existence and Robustness of Steady Position-Momentum Correlations for Time-Dependent Quadratic Systems

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M. Gianfreda

2012-01-01

Full Text Available We discuss conditions giving rise to stationary position-momentum correlations among quantum states in the Fock and coherent basis associated with the natural invariant for the one-dimensional time-dependent quadratic Hamiltonian operators such as the Kanai-Caldirola Hamiltonian. We also discuss some basic features such as quantum decoherence of the wave functions resulting from the corresponding quantum dynamics of these systems that exhibit no timedependence in their quantum correlations. In particular, steady statistical momentum averages are seen over well-defined time intervals in the evolution of a linear superposition of the basis states of modified exponentially damped mass systems.

Natural resistance to experimental feline infectious peritonitis virus infection is decreased rather than increased by positive genetic selection.

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Pedersen, Niels C; Liu, Hongwei; Durden, Monica; Lyons, Leslie A

2016-03-01

A previous study demonstrated the existence of a natural resistance to feline infectious peritonitis virus (FIPV) among 36% of randomly bred laboratory cats. A genome wide association study (GWAS) on this population suggested that resistance was polygenic but failed to identify any strong specific associations. In order to enhance the power of GWAS or whole genome sequencing to identify strong genetic associations, a decision was made to positively select for resistance over three generations. The inbreeding experiment began with a genetically related parental (P) population consisting of three toms and four queens identified from among the survivors of the earlier study and belonging to a closely related subgroup (B). The subsequent effects of inbreeding were measured using 42 genome-wide STR markers. P generation cats produced 57 first filial (F1) kittens, only five of which (9.0%) demonstrated a natural resistance to FIPV infection. One of these five F1 survivors was then used to produce six F1/P-backcrosses kittens, only one of which proved resistant to FIP. Six of eight of the F1 and F1/P survivors succumbed to a secondary exposure 4-12 months later. Therefore, survival after both primary and secondary infection was decreased rather than increased by positive selection for resistance. The common genetic factor associated with this diminished resistance was a loss of heterozygosity. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

Pleiotropy of genetic variants on obesity and smoking phenotypes

DEFF Research Database (Denmark)

Wang, Tao; Moon, Jee-Young; Wu, Yiqun

2017-01-01

) consortium data and calculated a BMI genetic risk score (BMI-GRS) for 17,037 individuals of European descent from the Oncoarray Project of the International Lung Cancer Consortium (ILCCO). Smokers had a significantly higher BMI-GRS than never-smokers (p = 0.016 and 0.010 before and after adjustment for BMI......, respectively). The BMI-GRS was also positively correlated with pack-years of smoking (p... associated with smoking status and pack-years (p

Patient positioning method based on binary image correlation between two edge images for proton-beam radiation therapy

International Nuclear Information System (INIS)

Sawada, Akira; Yoda, Kiyoshi; Numano, Masumi; Futami, Yasuyuki; Yamashita, Haruo; Murayama, Shigeyuki; Tsugami, Hironobu

2005-01-01

A new technique based on normalized binary image correlation between two edge images has been proposed for positioning proton-beam radiotherapy patients. A Canny edge detector was used to extract two edge images from a reference x-ray image and a test x-ray image of a patient before positioning. While translating and rotating the edged test image, the absolute value of the normalized binary image correlation between the two edge images is iteratively maximized. Each time before rotation, dilation is applied to the edged test image to avoid a steep reduction of the image correlation. To evaluate robustness of the proposed method, a simulation has been carried out using 240 simulated edged head front-view images extracted from a reference image by varying parameters of the Canny algorithm with a given range of rotation angles and translation amounts in x and y directions. It was shown that resulting registration errors have an accuracy of one pixel in x and y directions and zero degrees in rotation, even when the number of edge pixels significantly differs between the edged reference image and the edged simulation image. Subsequently, positioning experiments using several sets of head, lung, and hip data have been performed. We have observed that the differences of translation and rotation between manual positioning and the proposed method were within one pixel in translation and one degree in rotation. From the results of the validation study, it can be concluded that a significant reduction in workload for the physicians and technicians can be achieved with this method

Genetic parameters and selection gains for Euterpe oleracea in juvenile phase

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João Tomé de Farias Neto

2012-09-01

Full Text Available Genetics parameters and selection gains, obtained 36 months after planting, are presented and discussed for progenies of open pollinated population of açai palm for plant height (AP, plant diameter (DPC, number of live leaves ( NFV and tiller number (NP, based on the linear mixed model methodology (REML / BLUP. The thirty progenies were evaluated in a randomized blocks design with three replications and plots of five plants, spaced at 6m x 4m. The values obtained for individual heritability (0.55, 0.44, 0.38 and 0.43 and for progeny means (0.64, 0.54, 0.58 and 0.64 for AP, DPC, NFV and NP, respectively, were expressives, which indicates the possibility of genetic progress with the selection. The accuracy among the genetics values predicted and the true were of 0.802 for height, 0.736 for diameter, 0.760 for number of live leaves and 0.797 for tiller number. With the exception of NFV character, the coefficients of individual genetic variation were high (>10%, confirming the potential of the population for selection. Predicted genetic gains of 89.3% were obtained for the character AP and 2.1% for DCP, with the selection of the twenty top individuals. Correlation was found between height and diameter of the plant. Among ages, for the same characters, positive correlations of mean magnitudes were found.

Genetic variation and trait correlations in a birdresistant pearl millet ...

African Journals Online (AJOL)

selection indices for effective improvement. There was significant genetic variation for grain yield and most yield component traits, indicating that selection within the population would be feasible. Genetic variation was, however not significant for the percent incidence of downy mildew, implying that selection for improving ...

Heat transfer coefficient correlation for convective boiling inside plain and micro fin tubes using genetic algorithms

International Nuclear Information System (INIS)

Picanco, Marco Antonio Silva; Bandarra Filho, Enio Pedone; Passos, Julio Cesar

2006-01-01

Two-phase flow heat transfer has been exhaustively studied over recent years. However, in this field several questions remain unanswered. Heat transfer coefficient prediction related to nucleate and convective boiling have been studied using different approaches, numerical, analytical and experimental. In this work, an experimental analysis, data representation and heat transfer coefficient prediction on two-phase heat transfer on nucleate and convective boiling are presented. An empirical correlation is obtained based on genetic algorithms search engine over a dimensional analysis of the two-phase flow heat transfer problem. (author)

Estimating non-genetic and genetic parameters of pre-weaning growth traits in Raini Cashmere goat.

Science.gov (United States)

Barazandeh, Arsalan; Moghbeli, Sadrollah Molaei; Vatankhah, Mahmood; Mohammadabadi, Mohammadreza

2012-04-01

Data and pedigree information used in the present study were 3,022 records of kids obtained from the breeding station of Raini goat. The studied traits were birth weight (BW), weaning weight (WW), average daily gain from birth to weaning (ADG) and Kleiber ratio at weaning (KR). The model included the fixed effects of sex of kid, type of birth, age of dam, year of birth, month of birth, and age of kid (days) as covariate that had significant effects, and random effects direct additive genetic, maternal additive genetic, maternal permanent environmental effects and residual. (Co) variance components were estimated using univariate and multivariate analysis by WOMBAT software applying four animal models including and ignoring maternal effects. Likelihood ratio test used to determine the most appropriate models. Heritability (h(a)(2)) estimates for BW, WW, ADG, and KR according to suitable model were 0.12 ± 0.05, 0.08 ± 0.06, 0.10 ± 0.06, and 0.06 ± 0.05, respectively. Estimates of the proportion of maternal permanent environmental effect to phenotypic variance (c(2)) were 0.17 ± 0.03, 0.07 ± 0.03, and 0.07 ± 0.03 for BW, WW, and ADG, respectively. Genetic correlations among traits were positive and ranged from 0.53 (BW-ADG) to 1.00 (WW-ADG, WW-KR, and ADG-KR). The maternal permanent environmental correlations between BW-WW, BW-ADG, and WW-ADG were 0.54, 0.48, and 0.99, respectively. Results indicated that maternal effects, especially maternal permanent environmental effects are an important source of variation in pre-weaning growth trait and ignoring those in the model redound incorrect genetic evaluation of kids.

Landscape genetics of high mountain frog metapopulations

Science.gov (United States)

Murphy, M.A.; Dezzani, R.; Pilliod, D.S.; Storfer, A.

2010-01-01

Explaining functional connectivity among occupied habitats is crucial for understanding metapopulation dynamics and species ecology. Landscape genetics has primarily focused on elucidating how ecological features between observations influence gene flow. Functional connectivity, however, may be the result of both these between-site (landscape resistance) landscape characteristics and at-site (patch quality) landscape processes that can be captured using network based models. We test hypotheses of functional connectivity that include both between-site and at-site landscape processes in metapopulations of Columbia spotted frogs (Rana luteiventris) by employing a novel justification of gravity models for landscape genetics (eight microsatellite loci, 37 sites, n = 441). Primarily used in transportation and economic geography, gravity models are a unique approach as flow (e.g. gene flow) is explained as a function of three basic components: distance between sites, production/attraction (e.g. at-site landscape process) and resistance (e.g. between-site landscape process). The study system contains a network of nutrient poor high mountain lakes where we hypothesized a short growing season and complex topography between sites limit R. luteiventris gene flow. In addition, we hypothesized production of offspring is limited by breeding site characteristics such as the introduction of predatory fish and inherent site productivity. We found that R. luteiventris connectivity was negatively correlated with distance between sites, presence of predatory fish (at-site) and topographic complexity (between-site). Conversely, site productivity (as measured by heat load index, at-site) and growing season (as measured by frost-free period between-sites) were positively correlated with gene flow. The negative effect of predation and positive effect of site productivity, in concert with bottleneck tests, support the presence of source-sink dynamics. In conclusion, gravity models provide a

High energy electron radiography system design and simulation study of beam angle-position correlation and aperture effect on the images

International Nuclear Information System (INIS)

Zhao, Quantang; Cao, S.C.; Liu, M.; Sheng, X.K.; Wang, Y.R.; Zong, Y.; Zhang, X.M.; Jing, Y.; Cheng, R.; Zhao, Y.T.; Zhang, Z.M.; Du, Y.C.; Gai, W.

2016-01-01

A beam line dedicated to high-energy electron radiography experimental research with linear achromat and imaging lens systems has been designed. The field of view requirement on the target and the beam angle-position correlation correction can be achieved by fine-tuning the fields of the quadrupoles used in the achromat in combination with already existing six quadrupoles before the achromat. The radiography system is designed by fully considering the space limitation of the laboratory and the beam diagnostics devices. Two kinds of imaging lens system, a quadruplet and an octuplet system are integrated into one beam line with the same object plane and image plane but with different magnification factor. The beam angle-position correlation on the target required by the imaging lens system and the aperture effect on the images are studied with particle tracking simulation. It is shown that the aperture position is also correlated to the beam angle-position on the target. With matched beam on the target, corresponding aperture position and suitable aperture radius, clear pictures can be imaged by both lens systems. The aperture is very important for the imaging. The details of the beam optical requirements, optimized parameters and the simulation results are presented.

Genetic and Environmental Influences on the Mental Health of Children: A Twin Study.

Science.gov (United States)

Yin, Ping; Hou, Xiao; Qin, Qing; Deng, Wei; Hu, Hua; Luo, Qinghua; Du, Lian; Qiu, Haitang; Qiu, Tian; Fu, Yixiao; Meng, Huaqing; Li, Tao

2016-08-01

The current study explored the influences of genetic and environmental factors on the mental health of twins between ages 6 and 16. A total of 41 monozygotic (MZ) twins and 35 dizygotic twins were recruited. The psychological attributes and environmental information of children were evaluated. A significant correlation was found between twins in the diagnostic categories of any psychiatric disorder and attention deficit/hyperactivity disorder (ADHD)/hyperkinesis based on the Strengths and Difficulties Questionnaire scale in MZ twins. Furthermore, fathers' authoritarian parenting style was positively correlated with the probability of any psychiatric disorders and oppositional/conduct disorders, whereas mothers' authoritative parenting style was negatively correlated with the probability of any psychiatric disorders and ADHD/hyperkinesis. The probability of emotional disorders was negatively correlated with scores on the Stressful Life Events Scale. These results collectively suggest that genetic and environmental elements, such as parental rearing style and stressful life events, may influence children's mental health. [Journal of Psychosocial Nursing and Mental Health Services, 54(8), 29-34.]. Copyright 2016, SLACK Incorporated.

Integrating social science and behavioral genetics: testing the origin of socioeconomic disparities in depression using a genetically informed design.

Science.gov (United States)

Mezuk, Briana; Myers, John M; Kendler, Kenneth S

2013-10-01

We tested 3 hypotheses-social causation, social drift, and common cause-regarding the origin of socioeconomic disparities in major depression and determined whether the relationship between socioeconomic status (SES) and major depression varied by genetic liability for major depression. Data were from a sample of female twins in the baseline Virginia Adult Twin Study of Psychiatric and Substance Use Disorders interviewed between 1987 and 1989 (n = 2153). We used logistic regression and structural equation twin models to evaluate these 3 hypotheses. Consistent with the social causation hypothesis, education (odds ratio [OR] = 0.78; 95% confidence interval [CI] = 0.66, 0.93; P social mobility was associated with lower risk of depression. There was no evidence that childhood SES was related to development of major depression (OR = 0.98; 95% CI = 0.89, 1.09; P > .1). Consistent with a common genetic cause, there was a negative correlation between the genetic components of major depression and education (r(2) = -0.22). Co-twin control analyses indicated a protective effect of education and income on major depression even after accounting for genetic liability. This study utilized a genetically informed design to address how social position relates to major depression. Results generally supported the social causation model.

Positive correlation between serum and peritoneal fluid CA-125 levels in women with pelvic endometriosis

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Vivian Ferreira do Amaral

Full Text Available CONTEXT AND OBJECTIVE: One of the diagnostic markers of endometriosis is CA-125, and elevated levels of this are caused by high concentrations in the ectopic endometrium. The objective of this study was to correlate CA-125 levels in serum and peritoneal fluid from women with and without pelvic endometriosis. DESIGN AND SETTING: This was a prospective, cross-sectional, controlled study of consecutive pa-tients undergoing laparoscopy for infertility, pelvic pain or tubal ligation, during early follicular phase, at the university hospital of Faculdade de Medicina de Ribeirão Preto. METHODS: Fifty-two patients were divided into two groups: endometriosis group, consisting of 35 patients with biopsy-confirmed pelvic endometriosis, and control group, consisting of 17 patients without endometriosis. CA-125 levels in serum samples and peritoneal fluid were determined by chemiluminescence. RESULTS: CA-125 levels in serum and peritoneal fluid were higher in patients with advanced pelvic endometriosis (means of 39.1 ± 45.8 U/ml versus 10.5 ± 5.9 U/ml in serum, p < 0.005; 1,469.4 ± 1,350.4 U/ml versus 888.7 ± 784.3 U/ml in peritoneal fluid, p < 0.05, and showed a positive correlation between each other (correlation coefficient (r = 0.4880. Women with more advanced degrees of endometriosis showed higher CA-125 levels in both serum and peritoneal fluid (p = 0.0001. CONCLUSION: There is a positive correlation between serum and peritoneal fluid values of CA-125 in women with and without endometriosis, and their levels are higher in peritoneal fluid. Advanced endometriosis is related to higher levels in both serum and peritoneal fluid.

Genetic relationships between body condition score and reproduction traits in Canadian Holstein and Ayrshire first-parity cows.

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Bastin, C; Loker, S; Gengler, N; Sewalem, A; Miglior, F

2010-05-01

The objective of this study was to investigate the genetic relationship between body condition score (BCS) and reproduction traits for first-parity Canadian Ayrshire and Holstein cows. Body condition scores were collected by field staff several times over the lactation in herds from Québec, and reproduction records (including both fertility and calving traits) were extracted from the official database used for the Canadian genetic evaluation of those herds. For each breed, six 2-trait animal models were run; they included random regressions that allowed the estimation of genetic correlations between BCS over the lactation and reproduction traits that are measured as a single lactation record. Analyses were undertaken on data from 108 Ayrshire herds and 342 Holstein herds. Average daily heritabilities of BCS were close to 0.13 for both breeds; these relatively low estimates might be explained by the high variability among herds and BCS evaluators. Genetic correlations between BCS and interval fertility traits (days from calving to first service, days from first service to conception, and days open) were negative and ranged between -0.77 and -0.58 for Ayrshire and between -0.31 and -0.03 for Holstein. Genetic correlations between BCS and 56-d nonreturn rate at first insemination were positive and moderate. The trends of these genetic correlations over the lactation suggest that a genetically low BCS in early lactation would increase the number of days that the primiparous cow was not pregnant and would decrease the chances of the primiparous cow to conceive at first service. Genetic correlations between BCS and calving traits were generally the strongest at calving and decreased with increasing days in milk. The correlation between BCS at calving and maternal calving ease was 0.21 for Holstein and 0.31 for Ayrshire and emphasized the relationship between fat cows around calving and dystocia. Genetic correlations between calving traits and BCS during the subsequent

Genetic structure of Europeans: a view from the North-East.

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Mari Nelis

Full Text Available Using principal component (PC analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (SNPs genotyped with the Illumina Infinium platform. In cohorts where the sample size was >100, one hundred randomly chosen samples were used for analysis to minimize the sample size effect, resulting in a total of 1,564 samples. This analysis revealed that the genetic structure of the European population correlates closely with geography. The first two PCs highlight the genetic diversity corresponding to the northwest to southeast gradient and position the populations according to their approximate geographic origin. The resulting genetic map forms a triangular structure with a Finland, b the Baltic region, Poland and Western Russia, and c Italy as its vertexes, and with d Central- and Western Europe in its centre. Inter- and intra- population genetic differences were quantified by the inflation factor lambda (lambda (ranging from 1.00 to 4.21, fixation index (F(st (ranging from 0.000 to 0.023, and by the number of markers exhibiting significant allele frequency differences in pair-wise population comparisons. The estimated lambda was used to assess the real diminishing impact to association statistics when two distinct populations are merged directly in an analysis. When the PC analysis was confined to the 1,019 Estonian individuals (0.1% of the Estonian population, a fine structure emerged that correlated with the geography of individual counties. With at least two cohorts available from several countries, genetic substructures were investigated in Czech, Finnish, German, Estonian and Italian populations. Together with previously published data, our results allow the creation of a comprehensive European genetic map that will greatly facilitate inter-population genetic studies including genome wide association studies (GWAS.

A retrospective study to rule out possible association of genetic and non-genetic risk factors with specific brca mutation positive breast cancers is some Pakistani females

International Nuclear Information System (INIS)

Malik, S.; Imran, M.; Hanif, A.; Bilal, M.

2009-01-01

Breast cancer is the most common malignancy among Asian women including Pakistan where recurrent mutations among certain sub-ethnic groups predisposing to breast cancer have recently been established. Study Design: The current retrospective study involves identification of genetic and non-genetic risk factors in 27 specific mutation positive females out of a. total of 100 females diagnosed with breast cancer, representing a sample from the Punjabi ethnic population of the city of Lahore. The study has been carried out by telephonic communication with the mutation positive patients or their relatives. Results: Out of the total 27% patients positive for specific BRCA mutations, 23% were positive for BRCAI mutations and 4% for BRCA2. Among a total of 100 breast cancer patients the BRCAI-IVS14, lG>A mutation was identified in 5 Punjabi ethnic females with Rajput sub ethnicity, BRCAI-3889delAG in 10 (8 with Mughal and 2 with Khan sub ethnicity), BRCAI-2080insA in 8 (Rajput sub ethnics) and BRCA2-3337C>T in 4 (Minhas sub ethnic) subjects. Two BRCAI mutations, namely 3889delAG and 2080insA were found to coexist in only one study case (with Mughal sub ethnicity). All the mutation positive breast cancers had unilateral ductal carcinoma. Of the 23 cases positive for screened BRCAI mutations, 17 were diagnosed for breast cancer at a relatively early age (age<40) and 6 were diagnosed at late age (age<41) whereas all cases positive for single BRCA2 mutation under consideration were diagnosed at late age. Furthermore, 24 of 27 patients with specific BRCA mutations had a positive family history of breast cancer. The high prevalence of the screened BRCA mutations in certain Punjabi sub-ethnicities indicates the importance of counseling. It is suggested that consanguinity may be a risk factor for recurrent population specific mutations. Hormonal factors including use of oral contraceptives, polycystic ovaries, central obesity, nulliparity, late age at first pregnancy, lack of

Genetic and molecular functional characterization of variants within TNFSF13B, a positional candidate preeclampsia susceptibility gene on 13q.

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Mona H Fenstad

Full Text Available BACKGROUND: Preeclampsia is a serious pregnancy complication, demonstrating a complex pattern of inheritance. The elucidation of genetic liability to preeclampsia remains a major challenge in obstetric medicine. We have adopted a positional cloning approach to identify maternal genetic components, with linkages previously demonstrated to chromosomes 2q, 5q and 13q in an Australian/New Zealand familial cohort. The current study aimed to identify potential functional and structural variants in the positional candidate gene TNFSF13B under the 13q linkage peak and assess their association status with maternal preeclampsia genetic susceptibility. METHODOLOGY/PRINCIPAL FINDINGS: The proximal promoter and coding regions of the positional candidate gene TNFSF13B residing within the 13q linkage region was sequenced using 48 proband or founder individuals from Australian/New Zealand families. Ten sequence variants (nine SNPs and one single base insertion were identified and seven SNPs were successfully genotyped in the total Australian/New Zealand family cohort (74 families/480 individuals. Borderline association to preeclampsia (p = 0.0153 was observed for three rare SNPs (rs16972194, rs16972197 and rs56124946 in strong linkage disequilibrium with each other. Functional evaluation by electrophoretic mobility shift assays showed differential nuclear factor binding to the minor allele of the rs16972194 SNP, residing upstream of the translation start site, making this a putative functional variant. The observed genetic associations were not replicated in a Norwegian case/control cohort (The Nord-Trøndelag Health Study (HUNT2, 851 preeclamptic and 1,440 non-preeclamptic women. CONCLUSION/SIGNIFICANCE: TNFSF13B has previously been suggested to contribute to the normal immunological adaption crucial for a successful pregnancy. Our observations support TNFSF13B as a potential novel preeclampsia susceptibility gene. We discuss a possible role for TNFSF13B in

Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia.

Science.gov (United States)

Marjanović, Ivan V; Selak-Djokić, Biljana; Perić, Stojan; Janković, Milena; Arsenijević, Vladimir; Basta, Ivana; Lavrnić, Dragana; Stefanova, Elka; Stević, Zorica

2017-06-01

Discovering novel mutations in C9orf72, FUS, ANG, and TDP-43 genes in ALS patients arises necessities for better clinical characterizations of these subjects. The aim is to determine clinical and cognitive profile of genetically positive Serbian ALS patients. 241 ALS patients were included in the study (17 familiar and 224 apparently sporadic). The following genes were analyzed: SOD1, C9orf72, ANG, FUS, and TDP-43. An extensive battery of classic neuropsychological tests was used in 27 ALS patients (22 SOD1 positive and 5 SOD1 negative) and 82 healthy controls (HCs). Overall 37 (15.4%) of 241 ALS patients carried mutations in tested genes-among 17 familiar ALS patients 16 (94.1%) were positive and among 224 apparently sporadic 21 (9.4%) had causative mutation. Mutations in SOD1 gene were the most common, representing 27 (73.0%) of all genetically positive ALS patients. The main clinical characteristics of SOD1 positive patients were: spinal onset in lower extremities, common sphincter and sensitive disturbances, and dysexecutive syndrome. Within SOD1 positive patients, we noticed somewhat earlier onset in patients with A145G, sensory and sphincter disturbances were dominant in patients with L144F, while D90A patients had significant sensory involvement. SOD1 negative group consisted of ten (27.0%) patients (six C9orf72, two ANG, one TDP-43, and one patient baring triple FUS, C9orf72 expansion, and ANG variants). Bulbar involvement and more extensive neuropsychological impairment (including executive, visuospatial, and memory difficulties) were the main features of SOD1 negative cohort. Our results suggest that meaningful clinical suspicion of certain ALS genotype might be made based on thorough clinical evaluation of patients.

Genetic load and transgenic mitigating genes in transgenic Brassica rapa (field mustard × Brassica napus (oilseed rape hybrid populations

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Warwick Suzanne I

2009-10-01

Full Text Available Abstract Background One theoretical explanation for the relatively poor performance of Brassica rapa (weed × Brassica napus (crop transgenic hybrids suggests that hybridization imparts a negative genetic load. Consequently, in hybrids genetic load could overshadow any benefits of fitness enhancing transgenes and become the limiting factor in transgenic hybrid persistence. Two types of genetic load were analyzed in this study: random/linkage-derived genetic load, and directly incorporated genetic load using a transgenic mitigation (TM strategy. In order to measure the effects of random genetic load, hybrid productivity (seed yield and biomass was correlated with crop- and weed-specific AFLP genomic markers. This portion of the study was designed to answer whether or not weed × transgenic crop hybrids possessing more crop genes were less competitive than hybrids containing fewer crop genes. The effects of directly incorporated genetic load (TM were analyzed through transgene persistence data. TM strategies are proposed to decrease transgene persistence if gene flow and subsequent transgene introgression to a wild host were to occur. Results In the absence of interspecific competition, transgenic weed × crop hybrids benefited from having more crop-specific alleles. There was a positive correlation between performance and number of B. napus crop-specific AFLP markers [seed yield vs. marker number (r = 0.54, P = 0.0003 and vegetative dry biomass vs. marker number (r = 0.44, P = 0.005]. However under interspecific competition with wheat or more weed-like conditions (i.e. representing a situation where hybrid plants emerge as volunteer weeds in subsequent cropping systems, there was a positive correlation between the number of B. rapa weed-specific AFLP markers and seed yield (r = 0.70, P = 0.0001, although no such correlation was detected for vegetative biomass. When genetic load was directly incorporated into the hybrid genome, by inserting a

Does degree of gyrification underlie the phenotypic and genetic associations between cortical surface area and cognitive ability?

Science.gov (United States)

Docherty, Anna R; Hagler, Donald J; Panizzon, Matthew S; Neale, Michael C; Eyler, Lisa T; Fennema-Notestine, Christine; Franz, Carol E; Jak, Amy; Lyons, Michael J; Rinker, Daniel A; Thompson, Wesley K; Tsuang, Ming T; Dale, Anders M; Kremen, William S

2015-02-01

The phenotypic and genetic relationship between global cortical size and general cognitive ability (GCA) appears to be driven by surface area (SA) and not cortical thickness (CT). Gyrification (cortical folding) is an important property of the cortex that helps to increase SA within a finite space, and may also improve connectivity by reducing distance between regions. Hence, gyrification may be what underlies the SA-GCA relationship. In previous phenotypic studies, a 3-dimensional gyrification index (3DGI) has been positively associated with cognitive ability and negatively associated with mild cognitive impairment, Alzheimer's disease, and psychiatric disorders affecting cognition. However, the differential genetic associations of 3DGI and SA with GCA are still unclear. We examined the heritability of 3DGI, and the phenotypic, genetic, and environmental associations of 3DGI with SA and GCA in a large sample of adult male twins (N = 512). Nearly 85% of the variance in 3DGI was due to genes, and 3DGI had a strong phenotypic and genetic association with SA. Both 3DGI and total SA had positive phenotypic correlations with GCA. However, the SA-GCA correlation remained significant after controlling for 3DGI, but not the other way around. There was also significant genetic covariance between SA and GCA, but not between 3DGI and GCA. Thus, despite the phenotypic and genetic associations between 3DGI and SA, our results do not support the hypothesis that gyrification underlies the association between SA and GCA. Copyright © 2014 Elsevier Inc. All rights reserved.

Understanding the genetic effects of recent habitat fragmentation in the context of evolutionary history: Phylogeography and landscape genetics of a southern California endemic Jerusalem cricket (Orthoptera: Stenopelmatidae: Stenopelmatus)

Science.gov (United States)

Vandergast, A.G.; Bohonak, A.J.; Weissman, D.B.; Fisher, R.N.

2007-01-01

Habitat loss and fragmentation due to urbanization are the most pervasive threats to biodiversity in southern California. Loss of habitat and fragmentation can lower migration rates and genetic connectivity among remaining populations of native species, reducing genetic variability and increasing extinction risk. However, it may be difficult to separate the effects of recent anthropogenic fragmentation from the genetic signature of prehistoric fragmentation due to previous natural geological and climatic changes. To address these challenges, we examined the phylogenetic and population genetic structure of a flightless insect endemic to cismontane southern California, Stenopelmatus 'mahogani' (Orthoptera: Stenopelmatidae). Analyses of mitochondrial DNA sequence data suggest that diversification across southern California began during the Pleistocene, with most haplotypes currently restricted to a single population. Patterns of genetic divergence correlate with contemporary urbanization, even after correcting for (geographical information system) GIS-based reconstructions of fragmentation during the Pleistocene. Theoretical simulations confirm that contemporary patterns of genetic structure could be produced by recent urban fragmentation using biologically reasonable assumptions about model parameters. Diversity within populations was positively correlated with current fragment size, but not prehistoric fragment size, suggesting that the effects of increased drift following anthropogenic fragmentation are already being seen. Loss of genetic connectivity and diversity can hinder a population's ability to adapt to ecological perturbations commonly associated with urbanization, such as habitat degradation, climatic changes and introduced species. Consequently, our results underscore the importance of preserving and restoring landscape connectivity for long-term persistence of low vagility native species. Journal compilation ?? 2006 Blackwell Publishing Ltd.

In vivo tracking of genetically engineered, anti-HER2/neu directed natural killer cells to HER2/neu positive mammary tumors with magnetic resonance imaging

International Nuclear Information System (INIS)

Daldrup-Link, Heike E.; Meier, Reinhardt; Metz, Stephan; Settles, Marcus; Rummeny, Ernst J.; Rudelius, Martina; Piontek, Guido; Schlegel, Juergen; Piert, Morand; Uherek, Christoph; Wels, Winfried

2005-01-01

The purpose of this study is to optimize labeling of the human natural killer (NK) cell line NK-92 with iron-oxide-based contrast agents and to monitor the in vivo distribution of genetically engineered NK-92 cells, which are directed against HER2/neu receptors, to HER2/neu positive mammary tumors with magnetic resonance (MR) imaging. Parental NK-92 cells and genetically modified HER2/neu specific NK-92-scFv(FRP5)-zeta cells, expressing a chimeric antigen receptor specific to the tumor-associated ErbB2 (HER2/neu) antigen, were labeled with ferumoxides and ferucarbotran using simple incubation, lipofection and electroporation techniques. Labeling efficiency was evaluated by MR imaging, Prussian blue stains and spectrometry. Subsequently, ferucarbotran-labeled NK-92-scFv(FRP5)-zeta (n=3) or parental NK-92 cells were intravenously injected into the tail vein of six mice with HER2/neu-positive NIH 3T3 mammary tumors, implanted in the mammary fat pad. The accumulation of the cells in the tumors was monitored by MR imaging before and 12 and 24 h after cell injection (p.i.). MR data were correlated with histopathology. Both the parental NK-92 and the genetically modified NK-92-scFv(FRP5)-zeta cells could be labeled with ferucarbotran and ferumoxides by lipofection and electroporation, but not by simple incubation. The intracellular cytoplasmatic iron-oxide uptake was significantly higher after labeling with ferucarbotran than ferumoxides (P 6 NK-92-scFv(FRP5)-zeta cells into tumor-bearing mice, MR showed a progressive signal decline in HER2/neu-positive mammary tumors at 12 and 24 h (p.i.). Conversely, injection of 5 x 10 6 parental NK-92 control cells, not directed against HER2/neu receptors, did not cause significant signal intensity changes of the tumors. Histopathology confirmed an accumulation of the former, but not the latter cells in tumor tissue. The human natural killer cell line NK-92 can be efficiently labeled with clinically applicable iron-oxide contrast

In vivo tracking of genetically engineered, anti-HER2/neu directed natural killer cells to HER2/neu positive mammary tumors with magnetic resonance imaging

Energy Technology Data Exchange (ETDEWEB)

Daldrup-Link, Heike E. [UCSF Medical Center, Department of Radiology, San Francisco, CA (United States); Meier, Reinhardt; Metz, Stephan; Settles, Marcus; Rummeny, Ernst J. [Technical University Munich, Department of Radiology, Munich (Germany); Rudelius, Martina; Piontek, Guido; Schlegel, Juergen [Technical University Munich, Institute of Pathology, Division of Neuropathology, Munich (Germany); Piert, Morand [Technical University Munich, Department of Nuclear Medicine, Munich (Germany); Uherek, Christoph; Wels, Winfried [University of Frankfurt, Georg Speyer House, Frankfurt (Germany)

2005-01-01

The purpose of this study is to optimize labeling of the human natural killer (NK) cell line NK-92 with iron-oxide-based contrast agents and to monitor the in vivo distribution of genetically engineered NK-92 cells, which are directed against HER2/neu receptors, to HER2/neu positive mammary tumors with magnetic resonance (MR) imaging. Parental NK-92 cells and genetically modified HER2/neu specific NK-92-scFv(FRP5)-zeta cells, expressing a chimeric antigen receptor specific to the tumor-associated ErbB2 (HER2/neu) antigen, were labeled with ferumoxides and ferucarbotran using simple incubation, lipofection and electroporation techniques. Labeling efficiency was evaluated by MR imaging, Prussian blue stains and spectrometry. Subsequently, ferucarbotran-labeled NK-92-scFv(FRP5)-zeta (n=3) or parental NK-92 cells were intravenously injected into the tail vein of six mice with HER2/neu-positive NIH 3T3 mammary tumors, implanted in the mammary fat pad. The accumulation of the cells in the tumors was monitored by MR imaging before and 12 and 24 h after cell injection (p.i.). MR data were correlated with histopathology. Both the parental NK-92 and the genetically modified NK-92-scFv(FRP5)-zeta cells could be labeled with ferucarbotran and ferumoxides by lipofection and electroporation, but not by simple incubation. The intracellular cytoplasmatic iron-oxide uptake was significantly higher after labeling with ferucarbotran than ferumoxides (P<0.05). After intravenous injection of 5 x 10{sup 6} NK-92-scFv(FRP5)-zeta cells into tumor-bearing mice, MR showed a progressive signal decline in HER2/neu-positive mammary tumors at 12 and 24 h (p.i.). Conversely, injection of 5 x 10{sup 6} parental NK-92 control cells, not directed against HER2/neu receptors, did not cause significant signal intensity changes of the tumors. Histopathology confirmed an accumulation of the former, but not the latter cells in tumor tissue. The human natural killer cell line NK-92 can be efficiently

Genetic parameters of Visual Image Analysis primal cut carcass traits of commercial prime beef slaughter animals.

Science.gov (United States)

Moore, K L; Mrode, R; Coffey, M P

2017-10-01

Visual Image analysis (VIA) of carcass traits provides the opportunity to estimate carcass primal cut yields on large numbers of slaughter animals. This allows carcases to be better differentiated and farmers to be paid based on the primal cut yields. It also creates more accurate genetic selection due to high volumes of data which enables breeders to breed cattle that better meet the abattoir specifications and market requirements. In order to implement genetic evaluations for VIA primal cut yields, genetic parameters must first be estimated and that was the aim of this study. Slaughter records from the UK prime slaughter population for VIA carcass traits was available from two processing plants. After edits, there were 17 765 VIA carcass records for six primal cut traits, carcass weight as well as the EUROP conformation and fat class grades. Heritability estimates after traits were adjusted for age ranged from 0.32 (0.03) for EUROP fat to 0.46 (0.03) for VIA Topside primal cut yield. Adjusting the VIA primal cut yields for carcass weight reduced the heritability estimates, with estimates of primal cut yields ranging from 0.23 (0.03) for Fillet to 0.29 (0.03) for Knuckle. Genetic correlations between VIA primal cut yields adjusted for carcass weight were very strong, ranging from 0.40 (0.06) between Fillet and Striploin to 0.92 (0.02) between Topside and Silverside. EUROP conformation was also positively correlated with the VIA primal cuts with genetic correlation estimates ranging from 0.59 to 0.84, whereas EUROP fat was estimated to have moderate negative correlations with primal cut yields, estimates ranged from -0.11 to -0.46. Based on these genetic parameter estimates, genetic evaluation of VIA primal cut yields can be undertaken to allow the UK beef industry to select carcases that better meet abattoir specification and market requirements.

Genetic correlation between amyotrophic lateral sclerosis and schizophrenia

DEFF Research Database (Denmark)

McLaughlin, Russell L; Schijven, Dick; van Rheenen, Wouter

2017-01-01

We have previously shown higher-than-expected rates of schizophrenia in relatives of patients with amyotrophic lateral sclerosis (ALS), suggesting an aetiological relationship between the diseases. Here, we investigate the genetic relationship between ALS and schizophrenia using genome...

Natural Selection and Genetic Diversity in the Butterfly Heliconius melpomene.

Science.gov (United States)

Martin, Simon H; Möst, Markus; Palmer, William J; Salazar, Camilo; McMillan, W Owen; Jiggins, Francis M; Jiggins, Chris D

2016-05-01

A combination of selective and neutral evolutionary forces shape patterns of genetic diversity in nature. Among the insects, most previous analyses of the roles of drift and selection in shaping variation across the genome have focused on the genus Drosophila A more complete understanding of these forces will come from analyzing other taxa that differ in population demography and other aspects of biology. We have analyzed diversity and signatures of selection in the neotropical Heliconius butterflies using resequenced genomes from 58 wild-caught individuals of Heliconius melpomene and another 21 resequenced genomes representing 11 related species. By comparing intraspecific diversity and interspecific divergence, we estimate that 31% of amino acid substitutions between Heliconius species are adaptive. Diversity at putatively neutral sites is negatively correlated with the local density of coding sites as well as nonsynonymous substitutions and positively correlated with recombination rate, indicating widespread linked selection. This process also manifests in significantly reduced diversity on longer chromosomes, consistent with lower recombination rates. Although hitchhiking around beneficial nonsynonymous mutations has significantly shaped genetic variation in H. melpomene, evidence for strong selective sweeps is limited overall. We did however identify two regions where distinct haplotypes have swept in different populations, leading to increased population differentiation. On the whole, our study suggests that positive selection is less pervasive in these butterflies as compared to fruit flies, a fact that curiously results in very similar levels of neutral diversity in these very different insects. Copyright © 2016 by the Genetics Society of America.

Effect of Correlated Noises in a Genetic Model

International Nuclear Information System (INIS)

Li, Zhang; Li, Cao

2010-01-01

The Stratonovich stochastic differential equation is used to analyze genotype selection in the presence of correlated Gaussian white noises. We study the steady state properties of the genotype selection and discuss the effects of the correlated noises. It is found that the degree of correlation of the noises can be used to select one type of genes from another type of mixing genes. The strong selection of genes caused by a large value of multiplicative noise intensity can be weakened by the intensive negative correlation. (general)

Ergodic channel capacity of spatial correlated multiple-input multiple-output free space optical links using multipulse pulse-position modulation

Science.gov (United States)

Wang, Huiqin; Wang, Xue; Cao, Minghua

2017-02-01

The spatial correlation extensively exists in the multiple-input multiple-output (MIMO) free space optical (FSO) communication systems due to the channel fading and the antenna space limitation. Wilkinson's method was utilized to investigate the impact of spatial correlation on the MIMO FSO communication system employing multipulse pulse-position modulation. Simulation results show that the existence of spatial correlation reduces the ergodic channel capacity, and the reception diversity is more competent to resist this kind of performance degradation.

Models for genetic evaluations of claw health traits in Spanish dairy cattle.

Science.gov (United States)

Pérez-Cabal, M A; Charfeddine, N

2015-11-01

Genetic parameters of 7 claw health traits from Spanish dairy cattle were estimated and the predictive ability of linear and ordinal threshold models were compared and assessed. This study included data on interdigital and digital dermatitis (DE), sole ulcer (SU), white line disease (WL), interdigital hyperplasia (IH), interdigital phlegmon (IP), and chronic laminitis (CL) collected between July 2012 and June 2013 from 834 dairy herds visited by 21 trained trimmers. An overall claw disorder (OCD) was also considered an indicator the absence or the presence of at least 1 of the 6 disorders. Claw health traits were scored as categorical traits with 3 degrees of severity (nonaffected, mild, and severe disorder). Genetic parameters were estimated by fitting both a standard linear model and an ordinal threshold animal model. Around 21% of cows had at least 1 claw disorder, and the most frequent disorders were SU, DE, WL, and CL. Heritabilities of claw disorders estimated with a linear model ranged from 0.01 (IP) to 0.05 (OCD), whereas estimates from the ordinal threshold models ranged from 0.06 to 0.39 (for IP and IH, respectively). Repeatabilities of claw health estimated with the linear model varied from 0.03 to 0.18 and estimates with the ordinal threshold model ranged from 0.33 to 0.69. The global trait OCD was correlated with all disorders, except for IH and IP when the linear model was fitted. Two different genetic backgrounds of claw disorders were found. Digital dermatitis showed positive correlations with IH and IP, whereas SU was positively correlated with WL and CL. The predictive ability of the models was assessed using mean squared error and Pearson correlation between the real observation and the corresponding prediction using cross-validation. Regardless of the claw health status, the linear model led to smaller mean squared error. However, differences in predictive ability were found when predicting nonaffected and affected animals. For most traits

Positive correlations between cerebral choline and renal dysfunction in chronic renal failure

International Nuclear Information System (INIS)

Sasaki, Osamu; Nakahama, Hajime; Nakamura, Satoko; Inenaga, Takashi; Kawano, Yuhei; Hattori, Noriaki; Inoue, Noriko; Sawada, Tohru; Kohno, Shigeru

2006-01-01

Cerebral metabolism in chronic renal failure (CRF) patients has not been fully evaluated. This study examined cerebral metabolites in CRF, using proton magnetic resonance spectroscopy (MRS). Subjects comprised 19 CRF patients and 21 healthy volunteers. Spectra were acquired from voxels of interest positioned in the parietal gray and white matter, and concentrations of the following cerebral metabolites were measured: N-acetyl group (NA), creatine + phosphocreatine (Cr), choline-containing compounds (Cho), myo-inositol and glutamate + glutamine. Among the 19 CRF patients, 9 who were started on hemodialysis (HD) underwent careful follow-up. Proton MRS was performed before and about 2 weeks after starting HD. In six patients in whom follow-up was possible, a third MRS was performed after about 18 months. The NA/Cr ratio was not significantly changed in CRF. However, elevations in the Cho/Cr ratio were found in both gray and white matter compared with controls. To the best of our knowledge, this is the first report of positive correlations between the Cho/Cr ratio in both regions and serum osmotic pressure. (orig.)

Genetic Analysis of Seed Yield Components and its Association with Forage Production in Wild and Cultivated Species of Sainfoin

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A. Najafipoor

2017-02-01

Full Text Available Little is known about genetic variation of seed related traits and their association with forage characters in sainfoin. In order to investigate the variation and relationship among seed yield and its components, 93 genotypes from 21 wild and cultivated species of genus Onobrychis were evaluated using a randomized complete block design with four replications at Isfahan University of Technology Research Farm, Isfahan, Iran. Analysis of variance showed that there was significant difference among genotypes, indicating existence of considerable genetic variation in this germplasm. Panicle fertility and panicle length had the most variation in cultivated and the wild genotypes, respectively. Results of correlation analysis showed that seed yield was positively correlated with number of stems per plant and number of seeds per panicle and negatively correlated with panicle length and days to 50% flowering. Seed yield had positive correlation with forage yield in wild species while this correlation was not significant in cultivated one. Cluster analysis classified the genotypes into three groups which separate wild and cultivated species. Based on principal component analysis the first component was related to seed yield and the second one was related to components of forage yield which can be used for selection of high forage and seed yielding genotypes.

[Correlation between genetic polymorphisms of -855 G/C and -1140 G/A in GRIN1 gene and paranoid schizophrenia].

Science.gov (United States)

Li, Zhong-Jie; Ding, Mei; Pang, Hao; Sun, Xue-Fei; Xing, Jia-Xin; Xuan, Jin-Feng; Wang, Bao-Jie

2013-04-01

To investigate the single nucleotide polymorphisms (SNP) of -855 G/C and -1140 G/A in promoter regions of GRIN1 gene and find their genetic correlation to paranoid schizophrenia as well as their applicable values in forensic medicine. The genetic polymorphisms of -855 G/C and -1140 G/A at the 5' end of GRIN1 gene were detected by PCR restriction fragment length polymorphism and PAGE in 183 healthy unrelated individuals of northern Chinese Han population and 172 patients of paranoid schizophrenia, respectively. The chi2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution. The differences of genotypes and allelic frequency distributions were compared between the two groups. Distributions of the genotypic frequencies satisfied Hardy-Weinberg equilibrium in both groups. The difference of genotypes was statistically significant between female patient group and female control group in -855 G/C distribution (P paranoid schizophrenia. The genetic factor of schizophrenia is involved in gender tendency. And it could be useful in forensic identification of schizophrenia.

Deciphering molecular circuits from genetic variation underlying transcriptional responsiveness to stimuli.

Science.gov (United States)

Gat-Viks, Irit; Chevrier, Nicolas; Wilentzik, Roni; Eisenhaure, Thomas; Raychowdhury, Raktima; Steuerman, Yael; Shalek, Alex K; Hacohen, Nir; Amit, Ido; Regev, Aviv

2013-04-01

Individual genetic variation affects gene responsiveness to stimuli, often by influencing complex molecular circuits. Here we combine genomic and intermediate-scale transcriptional profiling with computational methods to identify variants that affect the responsiveness of genes to stimuli (responsiveness quantitative trait loci or reQTLs) and to position these variants in molecular circuit diagrams. We apply this approach to study variation in transcriptional responsiveness to pathogen components in dendritic cells from recombinant inbred mouse strains. We identify reQTLs that correlate with particular stimuli and position them in known pathways. For example, in response to a virus-like stimulus, a trans-acting variant responds as an activator of the antiviral response; using RNA interference, we identify Rgs16 as the likely causal gene. Our approach charts an experimental and analytic path to decipher the mechanisms underlying genetic variation in circuits that control responses to stimuli.

Knowledge of Genetics and Attitudes toward Genetic Testing among College Students in Saudi Arabia.

Science.gov (United States)

Olwi, Duaa; Merdad, Leena; Ramadan, Eman

2016-01-01

Genetic testing has been gradually permeating the practice of medicine. Health-care providers may be confronted with new genetic approaches that require genetically informed decisions which will be influenced by patients' knowledge of genetics and their attitudes toward genetic testing. This study assesses the knowledge of genetics and attitudes toward genetic testing among college students. A cross-sectional study was conducted using a multistage stratified sample of 920 senior college students enrolled at King Abdulaziz University, Saudi Arabia. Information regarding knowledge of genetics, attitudes toward genetic testing, and sociodemographic data were collected using a self-administered questionnaire. In general, students had a good knowledge of genetics but lacked some fundamentals of genetics. The majority of students showed positive attitudes toward genetic testing, but some students showed negative attitudes toward certain aspects of genetic testing such as resorting to abortion in the case of an untreatable major genetic defect in an unborn fetus. The main significant predictors of knowledge were faculty, gender, academic year, and some prior awareness of 'genetic testing'. The main significant predictors of attitudes were gender, academic year, grade point average, and some prior awareness of 'genetic testing'. The knowledge of genetics among college students was higher than has been reported in other studies, and the attitudes toward genetic testing were fairly positive. Genetics educational programs that target youths may improve knowledge of genetics and create a public perception that further supports genetic testing. © 2016 S. Karger AG, Basel.

Genetic variability of the length of postpartum anoestrus in Charolais cows and its relationship with age at puberty

Directory of Open Access Journals (Sweden)

Ménissier François

2000-07-01

Full Text Available Abstract Fertility records (n = 1 802 were collected from 615 Charolais primiparous and multiparous cows managed in an experimental herd over an 11-year period. The objectives of the study were to describe the genetic variability of the re-establishment of postpartum reproductive activity and the relationship with body weight (BW and body condition score (BCS at calving and age at puberty. The length of postpartum anoestrus was estimated based on weekly blood progesterone assays and on twice daily detection of oestrus behaviour. The first oestrus behaviour was observed 69 days (± 25 days s.d. post-calving and the first positive progesterone measurement (≥ 1 ng mL-1 was observed at 66 days (± 22 days s.d. for the group of easy-calving multiparous suckling cows. Estimates of heritability and repeatability were h2 = 0.12 and r = 0.38 respectively, for the interval from calving to first oestrus (ICO. Corresponding values were h2 = 0.35 and r = 0.60 for the interval from calving to the first positive progesterone test (ICP. The genetic correlation between both criteria was high (rg = 0.98. The genetic relationships between postpartum intervals and BW and BCS of the female at calving were negative: the genetic aptitude to be heavier at calving and to have high body reserves was related to shorter postpartum intervals. A favourable genetic correlation between age at puberty and postpartum intervals was found (rg between 0.45 and 0.70. The heifers which were genetically younger at puberty also had shorter postpartum intervals.

Female strobili incidence in a Minnesota population of black spruce: heritability and correlation with height growth

Science.gov (United States)

C. Dana Nelson; C. A. Mohn

1989-01-01

Significant family variation in female strobili incidence, ripeness-to-flower and production were found in a Minnesota black spruce (Picea mariana (Mill.) B.S.P.) population tested at four locations. Heritability estimates indicated that gain in early flowering from selection would be possible. Height growth through age 12 years was positively correlated (genetic and...

ZResponse to selection, heritability and genetic correlations between body weight and body size in Pacific white shrimp, Litopenaeus vannamei

Science.gov (United States)

Andriantahina, Farafidy; Liu, Xiaolin; Huang, Hao; Xiang, Jianhai

2012-03-01

To quantify the response to selection, heritability and genetic correlations between weight and size of Litopenaeus vannamei, the body weight (BW), total length (TL), body length (BL), first abdominal segment depth (FASD), third abdominal segment depth (TASD), first abdominal segment width (FASW), and partial carapace length (PCL) of 5-month-old parents and of offspnng were measured by calculating seven body measunngs of offspnng produced by a nested mating design. Seventeen half-sib families and 42 full-sib families of L. vannamei were produced using artificial fertilization from 2-4 dams by each sire, and measured at around five months post-metamorphosis. The results show that hentabilities among vanous traits were high: 0.515±0.030 for body weight and 0.394±0.030 for total length. After one generation of selection. the selection response was 10.70% for offspring growth. In the 5th month, the realized heritability for weight was 0.296 for the offspnng generation. Genetic correlations between body weight and body size were highly variable. The results indicate that external morphological parameters can be applied dunng breeder selection for enhancing the growth without sacrificing animals for determining the body size and breed ability; and selective breeding can be improved significantly, simultaneously with increased production.

Positive expression of p53, c-erbB2 and MRP proteins is correlated with survival rates of NSCLC patients.

Science.gov (United States)

Xu, Yujin; Wang, Liancong; Zheng, Xiao; Liu, Guan; Wang, Yuezhen; Lai, Xiaojing; Li, Jianqiang

2013-05-01

The incidence of lung cancer is one of the leading causes of mortality. This study aimed to investigate the prognostic and predictive importance of p53, c-erbB2 and multidrug resistance proteins (MRP) expression and its correlation with clinicopathological characteristics of patients with non-small cell lung cancer (NSCLC). Expression of p53, c-erbB2 and MRP proteins in 152 tumor samples from resected primary NSCLCs was detected by immunohistochemical staining. The correlation of proteins, survival and clinicopathological characteristics was investigated in 152 patients undergoing potentially curative surgery. The positive rates of p53, c-erbB2 and MRP expression were 53.9 (82/152), 44.1 (67/152) and 43.4% (66/152), respectively. Overall survival rates of patients were markedly correlated with the overexpression of p53, c-erbB2 and MRP proteins. One, 2- and 3-year survival rates of patients exhibiting a positive expression of these proteins were 72.6, 54.8 and 32.2%, respectively. These rates were lower compared with those of patients with a negative expression of these proteins (92.1, 78.5 and 63.4%) (P=0.02, 0.01 or 0.00, respectively). Results of Cox's regression analysis showed that c-erbB2 expression and cell differentiation were independent prognostic factors in patients with NSCLC. These findings suggest that the positive expression of p53, c-erbB2 and MRP proteins is correlated with the survival rates of NSCLC patients. Detection of positive p53, c-erbB2 and MRP expression may be a useful predictive indicator of prognosis. Positive c-erbB2 expression is an independent prognostic factor, with a potential to be used as a predictive indicator of chemotherapy efficacy in NSCLC patients.

Genetic relationship of body energy and blood metabolites with reproduction in holstein cows.

Science.gov (United States)

Oikonomou, G; Arsenos, G; Valergakis, G E; Tsiaras, A; Zygoyiannis, D; Banos, G

2008-11-01

Body condition score (BCS), energy content (EC), cumulative effective energy balance (CEEB), and blood serum concentrations of glucose, beta-hydroxybutyrate (BHBA), and nonesterified fatty acids (NEFA) were measured throughout first lactation in 497 Holstein cows raised on a large commercial farm in northern Greece. All these traits are considered to be indicators of a cow's energy balance. An additional measure of BCS, EC, and blood serum glucose, BHBA, and NEFA concentrations were taken approximately 2 mo (61 +/- 23 d) before first calving. During first lactation, first service conception rate, conception rate in the first 305 d of lactation, interval from calving to conception, number of inseminations per conception, incidence of metritis, and incidence of reproductive problems of these cows were recorded; interval between first and second calving, and second lactation first service conception rate were also recorded. Random regression models were used to calculate weekly animal breeding values for first lactation BCS, EC, CEEB, glucose, BHBA, and NEFA. Single trait animal models were used to calculate breeding values for these traits measured on pregnant heifers before calving. Reproductive records were then regressed on animal breeding values for these energy balance-related traits to derive estimates of their genetic correlations. Several significant estimates were obtained. In general, traits that are known to be positively correlated with energy balance (BCS, EC, CEEB, and glucose) were found to have a favorable genetic relationship with reproduction, meaning that increased levels of the former will lead to an enhancement of the latter. On the other hand, traits known to be negatively correlated with energy balance (BHBA and NEFA) were found to have an unfavorable genetic association with reproductive traits. Body condition score, BHBA, and NEFA recorded early in lactation, and glucose concentrations measured in pregnant heifers had the highest genetic

Stability in and correlation between factors influencing genetic quality of seed lots in seed orchard of Pinus tabuliformis Carr. over a 12-year span.

Directory of Open Access Journals (Sweden)

Wei Li

Full Text Available Coniferous seed orchards require a long period from initial seed harvest to stable seed production. Differential reproductive success and asynchrony are among the main factors for orchard crops year-to-year variation in terms of parental gametic contribution and ultimately the genetic gain. It is fundamental in both making predictions about the genetic composition of the seed crop and decisions about orchard roguing and improved seed orchard establishment. In this paper, a primary Chinese pine seed orchard with 49 clones is investigated for stability, variation and correlation analysis of factors which influence genetic quality of the seed lots from initial seed harvest to the stable seed production over a 12 years span. Results indicated that the reproductive synchrony index of pollen shedding has shown to be higher than that of the strobili receptivity, and both can be drastically influenced by the ambient climate factors. Reproductive synchrony index of the clones has certain relative stability and it could be used as an indication of the seed orchard status during maturity stage; clones in the studied orchard have shown extreme differences in terms of the gametic and genetic contribution to the seed crop at the orchard's early production phase specifically when they severe as either female or male parents. Those differences are closely related to clonal sex tendency at the time of orchard's initial reproduction. Clonal gamete contribution as male and female parent often has a negative correlation. Clone utilization as pollen, seed or both pollen and seed donors should consider the role it would play in the seed crop; due to numerous factors influencing on the mating system in seed orchards, clonal genetic contribution as male parent is uncertain, and it has major influence on the genetic composition in the seed orchard during the initial reproductive and seed production phase.

Genetic parameters of rumination time and feed efficiency traits in primiparous Holstein cows under research and commercial conditions.

Science.gov (United States)

Byskov, M V; Fogh, A; Løvendahl, P

2017-12-01

Feed efficiency has the potential to be improved both through feeding, management, and breeding. Including feed efficiency in a selection index is limited by the fact that dry matter intake (DMI) recording is only feasible under research facilities, resulting in small data sets and, consequently, uncertain genetic parameter estimates. As a result, the need to record DMI indicator traits on a larger scale exists. Rumination time (RT), which is already recorded in commercial dairy herds by a sensor-based system, has been suggested as a potential DMI indicator. However, RT can only be a DMI indicator if it is heritable, correlates with DMI, and if the genetic parameters of RT in commercial herd settings are similar to those in research facilities. Therefore, the objective of our study was to estimate genetic parameters for RT and the related traits of DMI in primiparous Holstein cows, and to compare genetic parameters of rumination data between a research herd and 72 commercial herds. The estimated heritability values were all moderate for DMI (0.32-0.49), residual feed intake (0.23-0.36), energy-corrected milk (ECM) yield (0.49-0.70), and RT (0.14-0.44) found in the research herd. The estimated heritability values for ECM were lower for the commercial herds (0.08-0.35) than that for the research herd. The estimated heritability values for RT were similar for the 2 herd types (0.28-0.32). For the research herd, we found negative individual level correlations between RT and DMI (-0.24 to -0.09) and between RT and RFI (-0.34 to -0.03), and we found both positive and negative correlations between RT and ECM (-0.08 to 0.09). For the commercial herds, genetic correlations between RT and ECM were both positive and negative (-0.27 to 0.10). In conclusion, RT was not found to be a suitable indicator trait for feed intake and only a weak indicator of feed efficiency. Copyright © 2017 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

A quantitative genetic analysis of intermediate asthma phenotypes

DEFF Research Database (Denmark)

Thomsen, S.F.; Ferreira, M.A.R.; Kyvik, K.O.

2009-01-01

to the observed data using maximum likelihood methods. RESULTS: Additive genetic factors explained 67% of the variation in FeNO, 43% in airway responsiveness, 22% in airway obstruction, and 81% in serum total IgE. In general, traits had genetically and environmentally distinct variance structures. The most......AIM: To study the relative contribution of genetic and environmental factors to the correlation between exhaled nitric oxide (FeNO), airway responsiveness, airway obstruction, and serum total immunoglobulin E (IgE). METHODS: Within a sampling frame of 21,162 twin subjects, 20-49 years of age, from...... substantial genetic similarity was observed between FeNO and serum total IgE, genetic correlation (rhoA) = 0.37, whereas the strongest environmental resemblance was observed between airway responsiveness and airway obstruction, specific environmental correlation (rhoE) = -0.46, and between FeNO and airway...

A quantitative genetic analysis of intermediate asthma phenotypes

DEFF Research Database (Denmark)

Thomsen, S F; Ferreira, M A R; Kyvik, K O

2009-01-01

to the observed data using maximum likelihood methods. Results: Additive genetic factors explained 67% of the variation in FeNO, 43% in airway responsiveness, 22% in airway obstruction, and 81% in serum total IgE. In general, traits had genetically and environmentally distinct variance structures. The most......Aim: To study the relative contribution of genetic and environmental factors to the correlation between exhaled nitric oxide (FeNO), airway responsiveness, airway obstruction, and serum total immunoglobulin E (IgE). Methods: Within a sampling frame of 21 162 twin subjects, 20-49 years of age, from...... substantial genetic similarity was observed between FeNO and serum total IgE, genetic correlation (rho(A)) = 0.37, whereas the strongest environmental resemblance was observed between airway responsiveness and airway obstruction, specific environmental correlation (rho(E)) = -0.46, and between FeNO and airway...

Assessment of Genetic Diversity and Population Genetic Structure of Corylus mandshurica in China Using SSR Markers.

Science.gov (United States)

Zong, Jian-Wei; Zhao, Tian-Tian; Ma, Qing-Hua; Liang, Li-Song; Wang, Gui-Xi

2015-01-01

Corylus mandshurica, also known as pilose hazelnut, is an economically and ecologically important species in China. In this study, ten polymorphic simple sequence repeat (SSR) markers were applied to evaluate the genetic diversity and population structure of 348 C. mandshurica individuals among 12 populations in China. The SSR markers expressed a relatively high level of genetic diversity (Na = 15.3, Ne = 5.6604, I = 1.8853, Ho = 0.6668, and He = 0.7777). According to the coefficient of genetic differentiation (Fst = 0.1215), genetic variation within the populations (87.85%) were remarkably higher than among populations (12.15%). The average gene flow (Nm = 1.8080) significantly impacts the genetic structure of C. mandshurica populations. The relatively high gene flow (Nm = 1.8080) among wild C. mandshurica may be caused by wind-pollinated flowers, highly nutritious seeds and self-incompatible mating system. The UPGMA (unweighted pair group method of arithmetic averages) dendrogram was divided into two main clusters. Moreover, the results of STRUCTURE analysis suggested that C. mandshurica populations fell into two main clusters. Comparison of the UPGMA dendrogram and the Bayesian STRUCTURE analysis showed general agreement between the population subdivisions and the genetic relationships among populations of C. mandshurica. Group I accessions were located in Northeast China, while Group II accessions were in North China. It is worth noting that a number of genetically similar populations were located in the same geographic region. The results further showed that there was obvious genetic differentiation among populations from Northeast China to North China. Results from the Mantel test showed a weak but still significant positive correlation between Nei's genetic distance and geographic distance (km) among populations (r = 0.419, P = 0.005), suggesting that genetic differentiation in the 12 C. mandshurica populations might be related to geographic distance. These

Assessment of Genetic Diversity and Population Genetic Structure of Corylus mandshurica in China Using SSR Markers.

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Jian-Wei Zong

Full Text Available Corylus mandshurica, also known as pilose hazelnut, is an economically and ecologically important species in China. In this study, ten polymorphic simple sequence repeat (SSR markers were applied to evaluate the genetic diversity and population structure of 348 C. mandshurica individuals among 12 populations in China. The SSR markers expressed a relatively high level of genetic diversity (Na = 15.3, Ne = 5.6604, I = 1.8853, Ho = 0.6668, and He = 0.7777. According to the coefficient of genetic differentiation (Fst = 0.1215, genetic variation within the populations (87.85% were remarkably higher than among populations (12.15%. The average gene flow (Nm = 1.8080 significantly impacts the genetic structure of C. mandshurica populations. The relatively high gene flow (Nm = 1.8080 among wild C. mandshurica may be caused by wind-pollinated flowers, highly nutritious seeds and self-incompatible mating system. The UPGMA (unweighted pair group method of arithmetic averages dendrogram was divided into two main clusters. Moreover, the results of STRUCTURE analysis suggested that C. mandshurica populations fell into two main clusters. Comparison of the UPGMA dendrogram and the Bayesian STRUCTURE analysis showed general agreement between the population subdivisions and the genetic relationships among populations of C. mandshurica. Group I accessions were located in Northeast China, while Group II accessions were in North China. It is worth noting that a number of genetically similar populations were located in the same geographic region. The results further showed that there was obvious genetic differentiation among populations from Northeast China to North China. Results from the Mantel test showed a weak but still significant positive correlation between Nei's genetic distance and geographic distance (km among populations (r = 0.419, P = 0.005, suggesting that genetic differentiation in the 12 C. mandshurica populations might be related to geographic

The effect of flower position on variation and covariation in floral traits in a wild hermaphrodite plant.

Science.gov (United States)

Zhao, Zhi-Gang; Du, Guo-Zhen; Huang, Shuang-Quan

2010-05-20

Floral traits within plants can vary with flower position or flowering time. Within an inflorescence, sexual allocation of early produced basal flowers is often female-biased while later produced distal flowers are male-biased. Such temporal adjustment of floral resource has been considered one of the potential advantages of modularity (regarding a flower as a module) in hermaphrodites. However, flowers are under constraints of independent evolution of a given trait. To understand flower diversification within inflorescences, here we examine variation and covariation in floral traits within racemes at the individual and the maternal family level respectively in an alpine herb Aconitum gymnandrum (Ranunculaceae). We found that floral traits varied significantly with flower position and among families, and position effects were family-specific. Most of the variance of floral traits was among individuals rather than among flowers within individuals or among families. Significant phenotypic correlations between traits were not affected by position, indicating trait integration under shared developmental regulation. In contrast, positive family-mean correlations in floral traits declined gradually from basal to distal flowers (nine significant correlations among floral traits in basal flowers and only three in distal flowers), showing position-specificity. Therefore, the pattern and magnitude of genetic correlations decreased with flower position. This finding on covariation pattern in floral reproductive structures within racemes has not been revealed before, providing insights into temporal variation and position effects in floral traits within plants and the potential advantages of modularity in hermaphrodites.

Positive Correlation between Serum Osteocalcin and Testosterone in Male Hyperthyroidism Patients with High Bone Turnover.

Science.gov (United States)

Zhong, N; Xu, B; Cui, R; Xu, M; Su, J; Zhang, Z; Liu, Y; Li, L; Sheng, C; Sheng, H; Qu, S

2016-07-01

Animal studies suggested that there is an independent bone-osteocalcin-gonadal axis, except of the hypothalamic-pituitary-gonadal axis. Based on this hypothesis, the higher osteocalcin during the high bone turnover should be followed by higher testosterone formation. Yet such clinical evidence is limited. The patients with uncontrolled hyperthyroidism are proper model with high bone turnover. If this hypothesis is true, there should be high testosterone level in patients with uncontrolled hyperthyroidism. Therefore, Graves' disease patients were recruited to study the correlation between osteocalcin and testosterone. 50 male hyperthyroidism patients with Graves' disease and 50 health persons matched by age and gender were enrolled in our cross-section study. Serum markers for thyroid hormone, sex hormone and bone metabolic markers including free triiodothyronine (FT3), free thyroxine (FT4), thyroid-stimulating hormone (TSH), testosterone, luteinizing hormone (LH), follicle-stimulating hormone (FSH) and osteocalcin (OC), C-terminal telopeptide fragments of type I collagen (CTX) were examined. The demographic parameters such as duration of disease were also collected. All data was analyzed by SPSS 20.0. High testosterone and osteocalcin level was observed in the hyperthyroidism patients (T 36.35±10.72 nmol/l and OC 46.79±26.83 ng/ml). In simple Pearson correlation, testosterone was positively associated with OC (r=0.486, Phyperthyroidism patients, osteocalcin was positively correlated with serum testosterone, which indirectly supports the hypothesis that serum osteocalcin participates in the regulation of sex hormone. © Georg Thieme Verlag KG Stuttgart · New York.

Correlates of HCV seropositivity among familial contacts of HCV positive patients

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Matera Antonio

2006-09-01

Full Text Available Abstract Background Determinants of intrafamilial HCV transmission are still being debated. The aim of this study is to investigate the correlates of HCV seropositivity among familial contacts of HCV positive patients in Italy. Methods A cross-sectional study was conducted with 175 HCV positive patients (index cases, recruited from Policlinico Gemelli in Rome as well as other hospitals in Central Italy between 1995 and 2000 (40% female, mean age 57 ± 15.2 years, and 259 familial contacts. Differences in proportions of qualitative variables were tested with non-parametric tests (χ2, Yates correction, Fisher exact test, and a p value Results Seropositivity for HCV was found in 8.9% of the contacts. From the univariate analysis, risk factors significantly associated to HCV positivity in the contacts were: intravenous drug addiction (p = 0.004 and intercourse with drug addicts (p = 0.005. The only variables associated significantly and independently to HCV seropositivity in patients' contacts were intercourse with drug addicts (OR = 19.28; 95% CI: 2.01 – 184.94, the retirement status from work (OR = 3.76; 95% CI: 1.17 – 11.98, the time of the relationship (OR = 1.06; 95% CI: 1.00 – 1.11 and tattoos (OR = 7.68; 95% CI: 1.00 – 60.20. Conclusion The present study confirms that having intercourse with a drug addict is the most significant risk factor for intrafamilial HCV transmission. The association with retirement status from work could be related to both a long-term relationship with an index case and past exposure to common risk factors.

Comparative Study of Nei�s D with other Genetic Distance Measures between Barak Valley Muslims and other Nations for ABO Locus

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Supriyo CHAKRABORTY

2012-02-01

Full Text Available Quantification of the genetic distance between populations is essential in many genetic research programs. Several formulae were proposed for the estimation of genetic distance between populations using gene frequency data. But the selection of a suitable measure for estimating genetic distance between real-world human populations is a very difficult task despite the widely used measure Neis D. The present study was undertaken to estimate the genetic distance between Barak Valley Muslims (BVM and other twenty-four nations using seven different measures with ABO blood group gene frequency data for comparative analysis and to estimate the correlation coefficients between distance measures and to work out the linear regression equations. Seven genetic distance measures namely Neis D, Neis Nm, La, Neis Da, Dc, Re and Neis Ne were estimated between BVM and other 24 nations enroute the journey of mankind from Africa that commenced about 200,000 years ago (www.bradshawfoundation.com. Correlation coefficients between Neis D with other measures were estimated to find out which other genetic distance measures were closely related to Neis D. Neis D showed highly significant (p=0.01 positive correlation with Cavalli-Sforza and Edwards chord distance Dc (0.90, Reynolds Re (0.90, Neis Da (0.74 and Neis Ne (0.63 but negative correlation with Neis Nm and La. Linear regression equations of Neis D with other distance measures were estimated as Da = -0.80 + 1.34D, Dc = 1.91 + 4.44D, Re = -0.51 + 0.24D and Ne = -7.60 + 1.30D.

Genetic determinism of bone and mineral metabolism in meat-type chickens: A QTL mapping study.

Science.gov (United States)

Mignon-Grasteau, Sandrine; Chantry-Darmon, Céline; Boscher, Marie-Yvonne; Sellier, Nadine; Chabault-Dhuit, Marie; Le Bihan-Duval, Elisabeth; Narcy, Agnès

2016-12-01

Skeletal integrity in meat-type chickens is affected by many factors including rapid growth rate, nutrition and genetics. To investigate the genetic basis of bone and mineral metabolism, a QTL detection study was conducted in an intercross between two lines of meat-type chickens divergently selected for their high (D +) or low (D -) digestive efficiency. Tibia size (length, diameter, volume) and ash content were determined at 3 weeks of age as well as phosphorus (P) retention and plasma concentration. Heritability of these traits and their genetic correlations with digestive efficiency were estimated. A QTL mapping study was performed using 3379 SNP markers. Tibia size, weight, ash content and breaking strength were highly heritable (0.42 to 0.61). Relative tibia diameter and volume as well as P retention were strongly and positively genetically correlated with digestive efficiency (0.57 to 0.80). A total of 35 QTL were identified (9 for tibia weight, 13 for tibia size, 5 for bone strength, 5 for bone mineralization, 2 for plasma P concentration and 1 for P retention). Six QTL were genome-wide significant, and 3 QTL for tibia relative volume, weight and ash weight on chromosome 6 were fixed, the positive allele coming from the D-line. For two QTL for ash content on chromosome 18 and relative tibia length on chromosome 26, the confidence intervals were small enough to identify potential candidate genes. These findings support the evidence of multiple genetic loci controlling bone and mineral metabolism. The identification of candidate genes may provide new perspectives in the understanding of bone regulation, even beyond avian species.

Intraspecific chemical diversity among neighbouring plants correlates positively with plant size and herbivore load but negatively with herbivore damage.

Science.gov (United States)

Bustos-Segura, Carlos; Poelman, Erik H; Reichelt, Michael; Gershenzon, Jonathan; Gols, Rieta

2017-01-01

Intraspecific plant diversity can modify the properties of associated arthropod communities and plant fitness. However, it is not well understood which plant traits determine these ecological effects. We explored the effect of intraspecific chemical diversity among neighbouring plants on the associated invertebrate community and plant traits. In a common garden experiment, intraspecific diversity among neighbouring plants was manipulated using three plant populations of wild cabbage that differ in foliar glucosinolates. Plants were larger, harboured more herbivores, but were less damaged when plant diversity was increased. Glucosinolate concentration differentially correlated with generalist and specialist herbivore abundance. Glucosinolate composition correlated with plant damage, while in polycultures, variation in glucosinolate concentrations among neighbouring plants correlated positively with herbivore diversity and negatively with plant damage levels. The results suggest that intraspecific variation in secondary chemistry among neighbouring plants is important in determining the structure of the associated insect community and positively affects plant performance. © 2016 The Authors. Ecology Letters published by CNRS and John Wiley & Sons Ltd.

Time correlation between mononucleosis and initial symptoms of MS

Science.gov (United States)

Endriz, John; Ho, Peggy P.

2017-01-01

Objective: To determine the average age of MS onset vs the age at which Epstein-Barr infection has previously occurred and stratify this analysis by sex and the blood level of Epstein-Barr nuclear antigen 1 (EBNA1) antibody. Methods: Using infectious mononucleosis (IM) as a temporal marker in data from the Swedish epidemiologic investigation of MS, 259 adult IM/MS cases were identified and then augmented to account for “missing” childhood data so that the average age of MS onset could be determined for cases binned by age of IM (as stratified by sex and EBNA1 titer level). Results: Mean age of IM vs mean age of MS reveals a positive time correlation for all IM ages (from ∼5 to ∼30 years), with IM-to-MS delay decreasing with increased age. When bifurcated by sex or EBNA1 blood titer levels, males and high-titer subpopulations show even stronger positive time correlation, while females and low-titer populations show negative time correlation in early childhood (long IM/MS delay). The correlation becomes positive in females beyond puberty. Conclusions: IM/MS time correlation implies causality if IM is time random. Alternative confounding models seem implausible, in light of constraints imposed by time-invariant delay observed here. Childhood infection with Epstein-Barr virus (EBV) in females and/or those genetically prone to low EBNA1 blood titers will develop MS slowly. Males and/or high EBNA1-prone develop MS more rapidly following IM infection at all ages. For all, postpubescent EBV infection is critical for the initiation and rapid development of MS. PMID:28271078

Melanoma genetics

DEFF Research Database (Denmark)

Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

2015-01-01

Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence of herita......Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...... polygenic component to susceptibility, and a unique level of personal melanoma risk influenced by multiple low-risk alleles and genetic modifiers. In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with cancer clustering observed...

Foundations of genetic algorithms 1991

CERN Document Server

1991-01-01

Foundations of Genetic Algorithms 1991 (FOGA 1) discusses the theoretical foundations of genetic algorithms (GA) and classifier systems.This book compiles research papers on selection and convergence, coding and representation, problem hardness, deception, classifier system design, variation and recombination, parallelization, and population divergence. Other topics include the non-uniform Walsh-schema transform; spurious correlations and premature convergence in genetic algorithms; and variable default hierarchy separation in a classifier system. The grammar-based genetic algorithm; condition

Developmental and genetic determinants of leadership role occupancy among women.

Science.gov (United States)

Arvey, Richard D; Zhang, Zhen; Avolio, Bruce J; Krueger, Robert F

2007-05-01

The genetic and developmental influences on leadership role occupancy were investigated using a sample of 178 fraternal and 214 identical female twins. Two general developmental factors were identified, one involving formal work experiences and the other a family experiences factor hypothesized to influence whether women move into positions of leadership in organizations. Results indicated that 32% of the variance in leadership role occupancy was associated with heritability. The 2 developmental factors also showed significant correlations with leadership role occupancy. However, after genetic factors were partialed out, only the work experience factor was significantly related to leadership role occupancy. Results are discussed in terms of prior life events and experiences that may trigger leadership development and the limitations of this study. 2007 APA, all rights reserved

Genetic and metabolite diversity of Sardinian populations of Helichrysum italicum.

Science.gov (United States)

Melito, Sara; Sias, Angela; Petretto, Giacomo L; Chessa, Mario; Pintore, Giorgio; Porceddu, Andrea

2013-01-01

Helichrysum italicum (Asteraceae) is a small shrub endemic to the Mediterranean Basin, growing in fragmented and diverse habitats. The species has attracted attention due to its secondary metabolite content, but little effort has as yet been dedicated to assessing the genetic and metabolite diversity present in these populations. Here, we describe the diversity of 50 H. italicum populations collected from a range of habitats in Sardinia. H. italicum plants were AFLP fingerprinted and the composition of their leaf essential oil characterized by GC-MS. The relationships between the genetic structure of the populations, soil, habitat and climatic variables and the essential oil chemotypes present were evaluated using Bayesian clustering, contingency analyses and AMOVA. The Sardinian germplasm could be partitioned into two AFLP-based clades. Populations collected from the southwestern region constituted a homogeneous group which remained virtually intact even at high levels of K. The second, much larger clade was more diverse. A positive correlation between genetic diversity and elevation suggested the action of natural purifying selection. Four main classes of compounds were identified among the essential oils, namely monoterpenes, oxygenated monoterpenes, sesquiterpenes and oxygenated sesquiterpenes. Oxygenated monoterpene levels were significantly correlated with the AFLP-based clade structure, suggesting a correspondence between gene pool and chemical diversity. The results suggest an association between chemotype, genetic diversity and collection location which is relevant for the planning of future collections aimed at identifying valuable sources of essential oil.

Genetic and metabolite diversity of Sardinian populations of Helichrysum italicum.

Directory of Open Access Journals (Sweden)

Sara Melito

Full Text Available BACKGROUND: Helichrysum italicum (Asteraceae is a small shrub endemic to the Mediterranean Basin, growing in fragmented and diverse habitats. The species has attracted attention due to its secondary metabolite content, but little effort has as yet been dedicated to assessing the genetic and metabolite diversity present in these populations. Here, we describe the diversity of 50 H. italicum populations collected from a range of habitats in Sardinia. METHODS: H. italicum plants were AFLP fingerprinted and the composition of their leaf essential oil characterized by GC-MS. The relationships between the genetic structure of the populations, soil, habitat and climatic variables and the essential oil chemotypes present were evaluated using Bayesian clustering, contingency analyses and AMOVA. KEY RESULTS: The Sardinian germplasm could be partitioned into two AFLP-based clades. Populations collected from the southwestern region constituted a homogeneous group which remained virtually intact even at high levels of K. The second, much larger clade was more diverse. A positive correlation between genetic diversity and elevation suggested the action of natural purifying selection. Four main classes of compounds were identified among the essential oils, namely monoterpenes, oxygenated monoterpenes, sesquiterpenes and oxygenated sesquiterpenes. Oxygenated monoterpene levels were significantly correlated with the AFLP-based clade structure, suggesting a correspondence between gene pool and chemical diversity. CONCLUSIONS: The results suggest an association between chemotype, genetic diversity and collection location which is relevant for the planning of future collections aimed at identifying valuable sources of essential oil.

Genetic polymorphism within the Leishmania donovani complex: correlation with geographic origin

Czech Academy of Sciences Publication Activity Database

Zemanová, Eva; Jirků, Milan; Mauricio, I. L.; Miles, M. A.; Lukeš, Julius

2004-01-01

Roč. 70, č. 6 (2004), s. 613-617 ISSN 0002-9637 Grant - others:European Community(XE) QLK2-CT-2001-01810 Institutional research plan: CEZ:AV0Z6022909 Keywords : genetic polymorphism * Leishmania donovani * RAPD Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.013, year: 2004

Variables Affecting Secondary School Students' Willingness to Eat Genetically Modified Food Crops

Science.gov (United States)

Maes, Jasmien; Bourgonjon, Jeroen; Gheysen, Godelieve; Valcke, Martin

2017-04-01

A large-scale cross-sectional study (N = 4002) was set up to determine Flemish secondary school students' willingness to eat genetically modified food (WTE) and to link students' WTE to previously identified key variables from research on the acceptance of genetic modification (GM). These variables include subjective and objective knowledge about genetics and biotechnology, perceived risks and benefits of GM food crops, trust in information from different sources about GM, and food neophobia. Differences between WTE-related variables based on students' grade level, educational track, and gender were analyzed. The students displayed a rather indecisive position toward GM food and scored weakly on a genetics and biotechnology knowledge test. WTE correlated most strongly with perceived benefits and subjective and objective knowledge. The results have clear implications for education, as they reiterate the need to strengthen students' scientific knowledge base and to introduce a GM-related debate at a much earlier stage in their school career.

Detecting positive quadrant dependence and positive function dependence

NARCIS (Netherlands)

Janic-Wróblewska, A.; Kallenberg, W.C.M.; Ledwina, T.

2004-01-01

There is a lot of interest in positive dependence going beyond linear correlation. In this paper three new rank tests for testing independence against positive dependence are introduced. The first one is directed on positive quadrant dependence, the second and third one concentrate on positive

Detecting positive quadrant dependence and positive function dependence

NARCIS (Netherlands)

Janic-Wróblewska, A.; Kallenberg, W.C.M.; Ledwina, T.

2003-01-01

There is a lot of interest in positive dependence going beyond linear correlation. In this paper three new rank tests for testing independence against positive dependence are introduced. The first one is directed on positive quadrant dependence, the second and third one concentrate on positive

Genetic and non-genetic influences during pregnancy on infant global and site specific DNA methylation: role for folate gene variants and vitamin B12.

Directory of Open Access Journals (Sweden)

Jill A McKay

Full Text Available Inter-individual variation in patterns of DNA methylation at birth can be explained by the influence of environmental, genetic and stochastic factors. This study investigates the genetic and non-genetic determinants of variation in DNA methylation in human infants. Given its central role in provision of methyl groups for DNA methylation, this study focuses on aspects of folate metabolism. Global (LUMA and gene specific (IGF2, ZNT5, IGFBP3 DNA methylation were quantified in 430 infants by Pyrosequencing®. Seven polymorphisms in 6 genes (MTHFR, MTRR, FOLH1, CβS, RFC1, SHMT involved in folate absorption and metabolism were analysed in DNA from both infants and mothers. Red blood cell folate and serum vitamin B(12 concentrations were measured as indices of vitamin status. Relationships between DNA methylation patterns and several covariates viz. sex, gestation length, maternal and infant red cell folate, maternal and infant serum vitamin B(12, maternal age, smoking and genotype were tested. Length of gestation correlated positively with IGF2 methylation (rho = 0.11, p = 0.032 and inversely with ZNT5 methylation (rho = -0.13, p = 0.017. Methylation of the IGFBP3 locus correlated inversely with infant vitamin B(12 concentration (rho = -0.16, p = 0.007, whilst global DNA methylation correlated inversely with maternal vitamin B(12 concentrations (rho = 0.18, p = 0.044. Analysis of common genetic variants in folate pathway genes highlighted several associations including infant MTRR 66G>A genotype with DNA methylation (χ(2 = 8.82, p = 0.003 and maternal MTHFR 677C>T genotype with IGF2 methylation (χ(2 = 2.77, p = 0.006. These data support the hypothesis that both environmental and genetic factors involved in one-carbon metabolism influence DNA methylation in infants. Specifically, the findings highlight the importance of vitamin B(12 status, infant MTRR genotype and maternal MTHFR genotype, all of which may influence the supply of methyl groups for

Genotypic Variability of the Components and their Effects on the Rice Yield: Correlation and Path Analysis Study

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Sharkhawat Hossain

2008-06-01

Full Text Available Twenty modern Boro rice varieties were evaluated with a view to find variability and genetic association for grain yield and yield components characters. Genotypic and Phenotypic correlation among these characters were computed. Both genotypic and phenotypic correlation coefficients were significant between plant height and number of effective tillers per plant followed by panicle length. There was a positive significant correlation between yield and number of effective tillers per plant followed by percent filled grain per panicle. Path coefficient showed that number of effective tiller per plant and plant height are the characters that contribute largely to grain yield.

Genetic architecture of plasma adiponectin overlaps with the genetics of metabolic syndrome-related traits

NARCIS (Netherlands)

P. Henneman (Peter); Y.S. Aulchenko (Yurii); R.R. Frants (Rune); I.V. Zorkoltseva (Irina); M.C. Zillikens (Carola); M. Frölich (Marijke); B.A. Oostra (Ben); J.A.P. Willems van Dijk (Ko); P. Tikka-Kleemola (Päivi)

2010-01-01

textabstractOBJECTIVE - Adiponectin, a hormone secreted by adipose tissue, is of particular interest in metabolic syndrome, because it is inversely correlated with obesity and insulin sensitivity. However, it is not known to what extent the genetics of plasma adiponectin and the genetics of obesity

Positive Correlation of Serum Adiponectin with Lipid Profile in Patients with Type 2 Diabetes Mellitus is Affected by Metabolic Syndrome Status.

Science.gov (United States)

Eslamian, Mohammad; Mohammadinejad, Payam; Aryan, Zahra; Nakhjavani, Manouchehr; Esteghamati, Alireza

2016-04-01

Type-2 diabetes mellitus (DM) and Metabolic syndrome (MetS) are both associated with dyslipidemia which may lead to development of vascular complications. Adiponectin is an anti-inflammatory protein synthesized by the adipose tissue. There is controversy regarding the association of adiponectin with lipid profile. To evaluate the correlation between serum adiponectin concentration and metabolic profile in patients with type-2 DM. A single center cross-sectional study was conducted on 173 patients with type-2 DM (82 males and 91 females). Plasma adiponectin concentration, lipid profile, glucose profile, and anthropometric features were investigated. Insulin resistance was determined using Homeostasis model assessment (HOMA). Correlation of serum adiponectin with lipid profile of patients with type-2 DM was assessed. Adiponectin was negatively correlated with waist circumference (r = -0.16, P = 0.06) and positively with HbA1c (r = 0.19, P = 0.032), total cholesterol (r = 0.23, P = 0.017), LDL (r = 0.30, P = 0.001), SD-LDL (r = 0.41, P < 0.001), and SD-LDL/LDL (r = 0.22, P = 0.023). We found a positive correlation between adiponectin and total cholesterol (r = 0.27, P = 0.055), LDL (r = 0.34, P = 0.026) and SD-LDL (r = 0.41, P = 0.006) in patients with at least 3 components of MetS criteria. Correlation of adiponectin with LDL and SD-LDL remained positively significant with increasing the number of MetS components. In patients with 5 components of MetS, serum adiponectin was significantly correlated with serum triglyceride (r = 0.89). Significant interaction was observed between adiponectin and metabolic syndrome in relation to serum lipid profile. The results of the present study suggest that in patients with type-2 DM and MetS, lipid profile is strongly correlated with blood concentration of adiponectin. The strongest association was observed between serum adiponectin and LDL.

Path coefficient and correlation of yield and yield associated traits in candidate bread wheat (triticum aestivum l)lines

International Nuclear Information System (INIS)

Muhammad, T.; Haider, S.; Qureshi, M. J.; Shah, G. S.; Zamir, R.

2005-01-01

Yield and yield contributing traits were studied in candidate bread wheat lines to find out the genetic contribution of the different characters towards grain yield at NIFA, Peshawar during 2001-02. All the characteristics studied differed significantly from each other. Days to heading showed negative and significant correlation with harvest index and grain yield but was negative and non-significant with the biological yield. Days to maturity were negatively correlated at both genotypic and phenotypic levels with biological yield; harvest index and grain yield and level of correlations were significant with harvest index and grain yield. Plant height showed negative genotypic and phenotypic correlation with harvest index and grain yield. Biological yield had positive and significant genotypic and phenotypic correlations with harvest index and grain yield. Harvest index had positive and highly significant genotypic and phenotypic correlation with grain yield. Genotypic and phenotypic correlation coefficients revealed that important characters influencing grain yield are harvest index and biological yield. Path analysis showed the importance in order of harvest index, biological yield, plant height, days to maturity and days to heading with grain yield. (author)

Genetic architecture of the Delis-Kaplan Executive Function System Trail Making Test: evidence for distinct genetic influences on executive function.

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Vasilopoulos, Terrie; Franz, Carol E; Panizzon, Matthew S; Xian, Hong; Grant, Michael D; Lyons, Michael J; Toomey, Rosemary; Jacobson, Kristen C; Kremen, William S

2012-03-01

To examine how genes and environments contribute to relationships among Trail Making Test (TMT) conditions and the extent to which these conditions have unique genetic and environmental influences. Participants included 1,237 middle-aged male twins from the Vietnam Era Twin Study of Aging. The Delis-Kaplan Executive Function System TMT included visual searching, number and letter sequencing, and set-shifting components. Phenotypic correlations among TMT conditions ranged from 0.29 to 0.60, and genes accounted for the majority (58-84%) of each correlation. Overall heritability ranged from 0.34 to 0.62 across conditions. Phenotypic factor analysis suggested a single factor. In contrast, genetic models revealed a single common genetic factor but also unique genetic influences separate from the common factor. Genetic variance (i.e., heritability) of number and letter sequencing was completely explained by the common genetic factor while unique genetic influences separate from the common factor accounted for 57% and 21% of the heritabilities of visual search and set shifting, respectively. After accounting for general cognitive ability, unique genetic influences accounted for 64% and 31% of those heritabilities. A common genetic factor, most likely representing a combination of speed and sequencing, accounted for most of the correlation among TMT 1-4. Distinct genetic factors, however, accounted for a portion of variance in visual scanning and set shifting. Thus, although traditional phenotypic shared variance analysis techniques suggest only one general factor underlying different neuropsychological functions in nonpatient populations, examining the genetic underpinnings of cognitive processes with twin analysis can uncover more complex etiological processes.

Rapid changes in genetic architecture of behavioural syndromes following colonization of a novel environment.

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Karlsson Green, K; Eroukhmanoff, F; Harris, S; Pettersson, L B; Svensson, E I

2016-01-01

Behavioural syndromes, that is correlated behaviours, may be a result from adaptive correlational selection, but in a new environmental setting, the trait correlation might act as an evolutionary constraint. However, knowledge about the quantitative genetic basis of behavioural syndromes, and the stability and evolvability of genetic correlations under different ecological conditions, is limited. We investigated the quantitative genetic basis of correlated behaviours in the freshwater isopod Asellus aquaticus. In some Swedish lakes, A. aquaticus has recently colonized a novel habitat and diverged into two ecotypes, presumably due to habitat-specific selection from predation. Using a common garden approach and animal model analyses, we estimated quantitative genetic parameters for behavioural traits and compared the genetic architecture between the ecotypes. We report that the genetic covariance structure of the behavioural traits has been altered in the novel ecotype, demonstrating divergence in behavioural correlations. Thus, our study confirms that genetic correlations behind behaviours can change rapidly in response to novel selective environments. © 2015 European Society For Evolutionary Biology. Journal of Evolutionary Biology © 2015 European Society For Evolutionary Biology.

Genetic relations among procrastination, impulsivity, and goal-management ability: implications for the evolutionary origin of procrastination.

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Gustavson, Daniel E; Miyake, Akira; Hewitt, John K; Friedman, Naomi P

2014-06-01

Previous research has revealed a moderate and positive correlation between procrastination and impulsivity. However, little is known about why these two constructs are related. In the present study, we used behavior-genetics methodology to test three predictions derived from an evolutionary account that postulates that procrastination arose as a by-product of impulsivity: (a) Procrastination is heritable, (b) the two traits share considerable genetic variation, and (c) goal-management ability is an important component of this shared variation. These predictions were confirmed. First, both procrastination and impulsivity were moderately heritable (46% and 49%, respectively). Second, although the two traits were separable at the phenotypic level (r = .65), they were not separable at the genetic level (r genetic = 1.0). Finally, variation in goal-management ability accounted for much of this shared genetic variation. These results suggest that procrastination and impulsivity are linked primarily through genetic influences on the ability to use high-priority goals to effectively regulate actions. © The Author(s) 2014.

Genetic Determinants of Thrombin Generation and Their Relation to Venous Thrombosis: Results from the GAIT-2 Project

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Martin-Fernandez, Laura; Ziyatdinov, Andrey; Carrasco, Marina; Millon, Juan Antonio; Martinez-Perez, Angel; Vilalta, Noelia; Brunel, Helena; Font, Montserrat; Hamsten, Anders; Souto, Juan Carlos; Soria, José Manuel

2016-01-01

Background Venous thromboembolism (VTE) is a common disease where known genetic risk factors explain only a small portion of the genetic variance. Then, the analysis of intermediate phenotypes, such as thrombin generation assay, can be used to identify novel genetic risk factors that contribute to VTE. Objectives To investigate the genetic basis of distinct quantitative phenotypes of thrombin generation and its relationship to the risk of VTE. Patients/Methods Lag time, thrombin peak and endogenous thrombin potential (ETP) were measured in the families of the Genetic Analysis of Idiopathic Thrombophilia 2 (GAIT-2) Project. This sample consisted of 935 individuals in 35 extended families selected through a proband with idiopathic thrombophilia. We performed also genome wide association studies (GWAS) with thrombin generation phenotypes. Results The results showed that 67% of the variation in the risk of VTE is attributable to genetic factors. The heritabilities of lag time, thrombin peak and ETP were 49%, 54% and 52%, respectively. More importantly, we demonstrated also the existence of positive genetic correlations between thrombin peak or ETP and the risk of VTE. Moreover, the major genetic determinant of thrombin generation was the F2 gene. However, other suggestive signals were observed. Conclusions The thrombin generation phenotypes are strongly genetically determined. The thrombin peak and ETP are significantly genetically correlated with the risk of VTE. In addition, F2 was identified as a major determinant of thrombin generation. We reported suggestive signals that might increase our knowledge to explain the variability of this important phenotype. Validation and functional studies are required to confirm GWAS results. PMID:26784699

Contribution of Genetic Background, Traditional Risk Factors, and HIV-Related Factors to Coronary Artery Disease Events in HIV-Positive Persons

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Rotger, Margalida; Glass, Tracy R.; Junier, Thomas; Lundgren, Jens; Neaton, James D.; Poloni, Estella S.; van 't Wout, Angélique B.; Lubomirov, Rubin; Colombo, Sara; Martinez, Raquel; Rauch, Andri; Günthard, Huldrych F.; Neuhaus, Jacqueline; Wentworth, Deborah; van Manen, Danielle; Gras, Luuk A.; Schuitemaker, Hanneke; Albini, Laura; Torti, Carlo; Jacobson, Lisa P.; Li, Xiuhong; Kingsley, Lawrence A.; Carli, Federica; Guaraldi, Giovanni; Ford, Emily S.; Sereti, Irini; Hadigan, Colleen; Martinez, Esteban; Arnedo, Mireia; Egaña-Gorroño, Lander; Gatell, Jose M.; Law, Matthew; Bendall, Courtney; Petoumenos, Kathy; Rockstroh, Jürgen; Wasmuth, Jan-Christian; Kabamba, Kabeya; Delforge, Marc; De Wit, Stephane; Berger, Florian; Mauss, Stefan; de Paz Sierra, Mariana; Losso, Marcelo; Belloso, Waldo H.; Leyes, Maria; Campins, Antoni; Mondi, Annalisa; De Luca, Andrea; Bernardino, Ignacio; Barriuso-Iglesias, Mónica; Torrecilla-Rodriguez, Ana; Gonzalez-Garcia, Juan; Arribas, José R.; Fanti, Iuri; Gel, Silvia; Puig, Jordi; Negredo, Eugenia; Gutierrez, Mar; Domingo, Pere; Fischer, Julia; Fätkenheuer, Gerd; Alonso-Villaverde, Carlos; Macken, Alan; Woo, James; McGinty, Tara; Mallon, Patrick; Mangili, Alexandra; Skinner, Sally; Wanke, Christine A.; Reiss, Peter; Weber, Rainer; Bucher, Heiner C.; Fellay, Jacques; Telenti, Amalio; Tarr, Philip E.

2013-01-01

Background Persons infected with human immunodeficiency virus (HIV) have increased rates of coronary artery disease (CAD). The relative contribution of genetic background, HIV-related factors, antiretroviral medications, and traditional risk factors to CAD has not been fully evaluated in the setting of HIV infection. Methods In the general population, 23 common single-nucleotide polymorphisms (SNPs) were shown to be associated with CAD through genome-wide association analysis. Using the Metabochip, we genotyped 1875 HIV-positive, white individuals enrolled in 24 HIV observational studies, including 571 participants with a first CAD event during the 9-year study period and 1304 controls matched on sex and cohort. Results A genetic risk score built from 23 CAD-associated SNPs contributed significantly to CAD (P = 2.9×10−4). In the final multivariable model, participants with an unfavorable genetic background (top genetic score quartile) had a CAD odds ratio (OR) of 1.47 (95% confidence interval [CI], 1.05–2.04). This effect was similar to hypertension (OR = 1.36; 95% CI, 1.06–1.73), hypercholesterolemia (OR = 1.51; 95% CI, 1.16–1.96), diabetes (OR = 1.66; 95% CI, 1.10–2.49), ≥1 year lopinavir exposure (OR = 1.36; 95% CI, 1.06–1.73), and current abacavir treatment (OR = 1.56; 95% CI, 1.17–2.07). The effect of the genetic risk score was additive to the effect of nongenetic CAD risk factors, and did not change after adjustment for family history of CAD. Conclusions In the setting of HIV infection, the effect of an unfavorable genetic background was similar to traditional CAD risk factors and certain adverse antiretroviral exposures. Genetic testing may provide prognostic information complementary to family history of CAD. PMID:23532479

Proteomic Analysis of Saliva in HIV-positive Heroin Addicts Reveals Proteins Correlated with Cognition

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Dominy, Stephen; Brown, Joseph N.; Ryder, Mark I.; Gritsenko, Marina A.; Jacobs, Jon M.; Smith, Richard D.

2014-04-01

The prevalence of HIV-associated neurocognitive disorders (HAND) remains high despite effective antiretroviral therapies. Multiple etiologies have been proposed over the last few years to account for this phenomenon, including the neurotoxic effects of antiretrovirals and co-morbid substance abuse. However, no underlying molecular mechanism has been identified. Emerging evidence in several fields has linked the gut to brain diseases, but the effect of the gut on the brain during HIV infection has not been explored. Saliva is the most accessible gut biofluid, and is therefore of great scientific interest for diagnostic and prognostic purposes. This study presents a longitudinal, liquid chromatography-mass spectrometry-based quantitative proteomics study investigating saliva samples taken from 8 HIV-positive (HIV+) and 11 -negative (HIV-) heroin addicts. In the HIV+ group, 58 proteins were identified that show significant correlations with cognitive scores and that implicate disruption of protein quality control pathways by HIV. Notably, no proteins from the HIV- heroin addict cohort showed significant correlations with cognitive scores. In addition, the majority of correlated proteins have been shown to be associated with exosomes, allowing us to propose that the salivary glands and/or oral epithelium may modulate brain function during HIV infection through the release of discrete packets of proteins in the form of exosomes.

Genetic and Nongenetic Determinants of Cell Growth Variation Assessed by High-Throughput Microscopy

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Ziv, Naomi; Siegal, Mark L.; Gresham, David

2013-01-01

In microbial populations, growth initiation and proliferation rates are major components of fitness and therefore likely targets of selection. We used a high-throughput microscopy assay, which enables simultaneous analysis of tens of thousands of microcolonies, to determine the sources and extent of growth rate variation in the budding yeast (Saccharomyces cerevisiae) in different glucose environments. We find that cell growth rates are regulated by the extracellular concentration of glucose as proposed by Monod (1949), but that significant heterogeneity in growth rates is observed among genetically identical individuals within an environment. Yeast strains isolated from different geographic locations and habitats differ in their growth rate responses to different glucose concentrations. Inheritance patterns suggest that the genetic determinants of growth rates in different glucose concentrations are distinct. In addition, we identified genotypes that differ in the extent of variation in growth rate within an environment despite nearly identical mean growth rates, providing evidence that alleles controlling phenotypic variability segregate in yeast populations. We find that the time to reinitiation of growth (lag) is negatively correlated with growth rate, yet this relationship is strain-dependent. Between environments, the respirative activity of individual cells negatively correlates with glucose abundance and growth rate, but within an environment respirative activity and growth rate show a positive correlation, which we propose reflects differences in protein expression capacity. Our study quantifies the sources of genetic and nongenetic variation in cell growth rates in different glucose environments with unprecedented precision, facilitating their molecular genetic dissection. PMID:23938868

The effect of flower position on variation and covariation in floral traits in a wild hermaphrodite plant

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Du Guo-Zhen

2010-05-01

Full Text Available Abstract Background Floral traits within plants can vary with flower position or flowering time. Within an inflorescence, sexual allocation of early produced basal flowers is often female-biased while later produced distal flowers are male-biased. Such temporal adjustment of floral resource has been considered one of the potential advantages of modularity (regarding a flower as a module in hermaphrodites. However, flowers are under constraints of independent evolution of a given trait. To understand flower diversification within inflorescences, here we examine variation and covariation in floral traits within racemes at the individual and the maternal family level respectively in an alpine herb Aconitum gymnandrum (Ranunculaceae. Results We found that floral traits varied significantly with flower position and among families, and position effects were family-specific. Most of the variance of floral traits was among individuals rather than among flowers within individuals or among families. Significant phenotypic correlations between traits were not affected by position, indicating trait integration under shared developmental regulation. In contrast, positive family-mean correlations in floral traits declined gradually from basal to distal flowers (nine significant correlations among floral traits in basal flowers and only three in distal flowers, showing position-specificity. Therefore, the pattern and magnitude of genetic correlations decreased with flower position. Conclusions This finding on covariation pattern in floral reproductive structures within racemes has not been revealed before, providing insights into temporal variation and position effects in floral traits within plants and the potential advantages of modularity in hermaphrodites.

Death attitudes and positive coping in Spanish nursing undergraduates: a cross-sectional and correlational study.

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Edo-Gual, Montserrat; Monforte-Royo, Cristina; Aradilla-Herrero, Amor; Tomás-Sábado, Joaquín

2015-09-01

To analyse the relationship between death attitudes, emotional intelligence, resilience and self-esteem in a sample of nursing undergraduates. The death attitudes held by nursing students may influence the care they offer to end-of-life patients and their families. Emotional intelligence, resilience and self-esteem are important social and emotional competencies for coping positively with death and dying. Cross-sectional and correlational study. Participants were 760 nursing undergraduates from four nursing schools in Spain. Data were collected in 2013-2014. The students responded anonymously to a self-report questionnaire that gathered socio-demographic data and which assessed the following aspects: fear of death (Collett-Lester Fear of Death Scale), death anxiety (Death Anxiety Inventory-Revised), perceived emotional intelligence (Trait Meta-Mood Scale, with its three dimensions: attention, clarity and repair), resilience (Brief Resilient Coping Scale) and self-esteem (Rosenberg Self-Esteem Scale). In addition to descriptive statistics, analyses of variance, mean differences, correlations and regression analyses were computed. Linear regression analysis indicated that attention to feelings, resilience and self-esteem are the significant predictors of death anxiety. The results show that death anxiety and fear of death are modulated by social and emotional competencies associated with positive coping. The training offered to future nurses should include not only scientific knowledge and technical skills but also strategies for developing social and emotional competencies. In this way, they will be better equipped to cope positively and constructively with the suffering and death they encounter at work, thus helping them to offer compassionate patient-centred care and minimising the distress they experience in the process. © 2015 John Wiley & Sons Ltd.

Measurement of the length and position of the lower oesophageal sphincter by correlation of external measurements and radiographic estimations in dogs

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Waterman, A.E.; Hashim, M.A.

1991-01-01

Fifty dogs were investigated in order to correlate the length and position of the lower oesophageal sphincter (LOS) with external measurements. Various external measurements were taken while the dogs were anaesthetised and positioned in lateral recumbency. An oesophageal tube was then introduced into the oesophagus and thoracic radiographs were taken. The 'real internal length of the oesophagus' was calculated as the length from the lower jaw incisor tooth to the position of the oesophageal tube at the costal border of the diaphragm. A highly significant linear correlation was found between this internal length and the external length from lower jaw incisor tooth to the anterior border of the head of the 10th rib. Using oesophageal manometry, the length and position of the LOS was also studied in 25 clinically normal bitches. The mean length of the LOS was found to be 4.6 +/- 0.92 cm. The position of the LOS was a mean of 4.4 +/- 1.69 cm cranial to the costal border of the diaphragm. The findings of this study indicate that the external measurements can be used to position catheters for accurate oesophageal manometry in the dog

Genetic control of diploid recovery after γ-irradiation in the yeast Saccharomyces cerevisiae

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Saeki, T.; Machida, I.; Nakai, S.

1980-01-01

Genetic mechanism(s) of γ-ray resistance of the diploid and budding haploid cells of S. cerevisiae were investigated, with special reference to mitotic recombination, by examining 11 rad mutant strains. The radiosentivity of the diploid was markedly enhanced in certain γ-ray-sensitive rad mutants, whereas the sensitivity of the haploid was not so enhanced in these rad mutants. These enhanced sensitivities of diploids were irrespective of their own haploid sensitivities. From these results, the existence of a mechanism of diploid-specific recovery was postulated. The magnitude of diploid radioresistance in rad mutants was positively correlated with the ability for the induction of mitotic recombinational events which were controlled by RAD genes belonging to the RAD-51 genetic pathway. The genetic mechanism(s) of the diploid recovery after γ-irradiation are probably related to recombinational processes between the homologous chromosomes leading to reciprocal recombination or non-reciprocal gene conversion. Furthermore, the higher radioresistance of budding cells in comparison with the non-budding cells was also correlated to the diploid radioresistance with a few exceptions. Consequently, the mechanism(s) of budding radioresistance similar to the diploid recovery seems to be related to mitotic recombinational processes. (orig.)

Vascular measurements correlate with estrogen receptor status

International Nuclear Information System (INIS)

Lloyd, Mark C; Alfarouk, Khalid O; Verduzco, Daniel; Bui, Marilyn M; Gillies, Robert J; Ibrahim, Muntaser E; Brown, Joel S; Gatenby, Robert A

2014-01-01

Breast carcinoma can be classified as either Estrogen Receptor (ER) positive or negative by immunohistochemical phenotyping, although ER expression may vary from 1 to 100% of malignant cells within an ER + tumor. This is similar to genetic variability observed in other tumor types and is generally viewed as a consequence of intratumoral evolution driven by random genetic mutations. Here we view cellular evolution within tumors as a classical Darwinian system in which variations in molecular properties represent predictable adaptations to spatially heterogeneous environmental selection forces. We hypothesize that ER expression is a successful adaptive strategy only if estrogen is present in the microenvironment. Since the dominant source of estrogen is blood flow, we hypothesized that, in general, intratumoral regions with higher blood flow would contain larger numbers of ER + cells when compared to areas of low blood flow and in turn necrosis. This study used digital pathology whole slide image acquisition and advanced image analysis algorithms. We examined the spatial distribution of ER + and ER- cells, vascular density, vessel area, and tissue necrosis within histological sections of 24 breast cancer specimens. These data were correlated with the patients ER status and molecular pathology report findings. ANOVA analyses revealed a strong correlation between vascular area and ER expression and between high fractional necrosis and absent ER expression (R 2 = 39%; p < 0.003 and R 2 = 46%; p < 0.001), respectively). ER expression did not correlate with tumor grade or size. We conclude that ER expression can be understood as a Darwinian process and linked to variations in estrogen delivery by temporal and spatial heterogeneity in blood flow. This correlation suggests strategies to promote intratumoral blood flow or a cyclic introduction of estrogen in the treatment schedule could be explored as a counter-intuitive approach to increase the efficacy of anti

Evolution of floral display in Eichhornia paniculata (Pontederiaceae): direct and correlated responses to selection on flower size and number.

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Worley, A C; Barrett, S C

2000-10-01

Trade-offs between flower size and number seem likely to influence the evolution of floral display and are an important assumption of several theoretical models. We assessed floral trade-offs by imposing two generations of selection on flower size and number in a greenhouse population of bee-pollinated Eichhornia paniculata. We established a control line and two replicate selection lines of 100 plants each for large flowers (S+), small flowers (S-), and many flowers per inflorescence (N+). We compared realized heritabilities and genetic correlations with estimates based on restricted-maximum-likelihood (REML) analysis of pedigrees. Responses to selection confirmed REML heritability estimates (flower size, h2 = 0.48; daily flower number, h2 = 0.10; total flower number, h2 = 0.23). Differences in nectar, pollen, and ovule production between S+ and S- lines supported an overall divergence in investment per flower. Both realized and REML estimates of the genetic correlation between daily and total flower number were r = 1.0. However, correlated responses to selection were inconsistent in their support of a trade-off. In both S- lines, correlated increases in flower number indicated a genetic correlation of r = -0.6 between flower size and number. In contrast, correlated responses in N+ and S+ lines were not significant, although flower size decreased in one N+ line. In addition, REML estimates of genetic correlations between flower size and number were positive, and did not differ from zero when variation in leaf area and age at first flowering were taken into account. These results likely reflect the combined effects of variation in genes controlling the resources available for flowering and genes with opposing effects on flower size and number. Our results suggest that the short-term evolution of floral display is not necessarily constrained by trade-offs between flower size and number, as is often assumed.

Genetic polymorphisms associated with fatty liver disease and fibrosis in HIV positive patients receiving combined antiretroviral therapy (cART)

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Luda, Carolin; Schwarze-Zander, Carolynne; Boesecke, Christoph; Hansel, Cordula; Nischalke, Hans-Dieter; Lutz, Philipp; Mohr, Raphael; Wasmuth, Jan-Christian; Strassburg, Christian P.; Trebicka, Jonel; Rockstroh, Jürgen Kurt; Spengler, Ulrich

2017-01-01

Hepatic steatosis can occur with any antiretroviral therapy (cART). Although single nucleotide polymorphisms (SNPs) have been identified to predispose to alcoholic and non-alcoholic fatty liver disease, their role for treatment-associated steatosis in HIV-positive patients remains unclear. We determined the frequency of PNPLA3 (rs738409), CSPG3/NCAN (rs2228603), GCKR (rs780094), PPP1R3B (rs4240624), TM6SF (rs8542926), LYPLAL1 (rs12137855) and MBOAT7 (rs626283) by RT-PCR in 117 HIV-positive patients on cART and stratified participants based on their “controlled attenuation parameter” (CAP) into probable (CAP: 215–300 dB/m) and definite (CAP >300 dB/m) hepatic steatosis. We analyzed CAP values and routine metabolic parameters according to the allele frequencies. Sixty-five (55.6%) and 13 (11.1%) patients were allocated to probable and definite steatosis. CAP values (p = 0.012) and serum triglycerides (p = 0.043) were increased in carriers of the GCKR (rs780094) A allele. Cox logistic regression identified triglycerides (p = 0.006), bilirubin (p = 0.021) and BMI (p = 0.068), but not the genetic parameters as risk factors for the occurrence of hepatic steatosis. Taken together, according to the limited sample size, this exploratory study generates the hypothesis that genetic polymorphisms seem to exert minor effects on the risk for fatty liver disease in HIV-positive patients on cART. Nevertheless, SNPs may modify metabolic complications once metabolic abnormalities have developed. Hence, subsequent analysis of a larger cohort is needed. PMID:28594920

Pelvic floor muscle strength evaluation in different body positions in nulliparous healthy women and its correlation with sexual activity

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Monica Orsi Gameiro

2013-12-01

Full Text Available Objective The aim of this study was to assess pelvic floor muscle (PFM strength in different body positions in nulliparous healthy women and its correlation with sexual activity. Materials and Methods Fifty healthy nulliparous women with mean age of 23 years were prospectively studied. Subjective evaluation of PFM was assessed by transvaginal digital palpation (TDP of anterior and posterior areas regarding the vaginal introitus. A perineometer with inflatable vaginal probe was used to assess the PFM strength in four different positions: supine with extended lower limbs (P1; bent-knee supine (P2; sitting (P3; standing (P4. Results Physical activity, 3 times per week, was reported by 58% of volunteers. Sexual activity was observed in 80% of women and 82% of them presented orgasm. The average body mass index (BMI was 21.76 kg/m2, considered as normal according World Health Organization (WHO. We observed that 68% of volunteers were conscious about the PFM contraction. TDP showed concordance of 76% when anterior and posterior areas were compared (p = 0.00014. There was not correlation between PFM strength and orgasm in subjective evaluation. The PFM strength was significantly higher in standing position when compared with the other positions (p < 0.000. No statistical difference was observed between orgasm and PFM strength when objective evaluations were performed. Conclusions There was concordance between anterior and posterior areas in 76% of cases when subjective PFM strength was assessed. In objective evaluation, higher PFM strength was observed when volunteers were standing. No statistical correlation was observed between PFM strength and orgasm in nulliparous healthy women.

Genome-wide analysis in UK Biobank identifies four loci associated with mood instability and genetic correlation with major depressive disorder, anxiety disorder and schizophrenia.

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Ward, Joey; Strawbridge, Rona J; Bailey, Mark E S; Graham, Nicholas; Ferguson, Amy; Lyall, Donald M; Cullen, Breda; Pidgeon, Laura M; Cavanagh, Jonathan; Mackay, Daniel F; Pell, Jill P; O'Donovan, Michael; Escott-Price, Valentina; Smith, Daniel J

2017-11-30

Mood instability is a core clinical feature of affective and psychotic disorders. In keeping with the Research Domain Criteria approach, it may be a useful construct for identifying biology that cuts across psychiatric categories. We aimed to investigate the biological validity of a simple measure of mood instability and evaluate its genetic relationship with several psychiatric disorders, including major depressive disorder (MDD), bipolar disorder (BD), schizophrenia, attention deficit hyperactivity disorder (ADHD), anxiety disorder and post-traumatic stress disorder (PTSD). We conducted a genome-wide association study (GWAS) of mood instability in 53,525 cases and 60,443 controls from UK Biobank, identifying four independently associated loci (on chromosomes 8, 9, 14 and 18), and a common single-nucleotide polymorphism (SNP)-based heritability estimate of ~8%. We found a strong genetic correlation between mood instability and MDD (r g  = 0.60, SE = 0.07, p = 8.95 × 10 -17 ) and a small but significant genetic correlation with both schizophrenia (r g  = 0.11, SE = 0.04, p = 0.01) and anxiety disorders (r g  = 0.28, SE = 0.14, p = 0.04), although no genetic correlation with BD, ADHD or PTSD was observed. Several genes at the associated loci may have a role in mood instability, including the DCC netrin 1 receptor (DCC) gene, eukaryotic translation initiation factor 2B subunit beta (eIF2B2), placental growth factor (PGF) and protein tyrosine phosphatase, receptor type D (PTPRD). Strengths of this study include the very large sample size, but our measure of mood instability may be limited by the use of a single question. Overall, this work suggests a polygenic basis for mood instability. This simple measure can be obtained in very large samples; our findings suggest that doing so may offer the opportunity to illuminate the fundamental biology of mood regulation.

Molecular genetics of pancreatic neoplasms and their morphologic correlates: an update on recent advances and potential diagnostic applications.

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Reid, Michelle D; Saka, Burcu; Balci, Serdar; Goldblum, Andrew S; Adsay, N Volkan

2014-02-01

To summarize the most clinically and biologically relevant advances in molecular/genetic characteristics of various pancreatic neoplasms, with morphologic correlation. Whole-exome sequencing of numerous benign and malignant pancreatic tumors, along with the plethora of highly sensitive molecular studies now available for analyzing these tumors, provide mounting evidence to support the long-held belief that cancer is essentially a genetic disease. These genetic discoveries have not only helped to confirm the age-old, morphology-based classifications of pancreatic neoplasia but have shed new light on their mechanisms. Many of these molecular discoveries are currently being used in preoperative diagnosis. Mutations in KRAS, P16/CDKN2A, TP53, and SMAD4/DPC4 are commonly seen in ductal neoplasia but not in nonductal tumors; ductal adenocarcinomas with SMAD4/DPC4 loss are associated with widespread metastasis and poor prognosis. GNAS and RNF43 mutations have been discovered in most intraductal pancreatic mucinous neoplasms, providing critical molecular fingerprints for their diagnosis. Mutation in DAXX/ATRX is only seen in pancreatic neuroendocrine tumors, making it a useful potential marker in distinguishing these tumors from mimics. When combined with morphologic observations, molecular studies will increase our understanding of the pathogenesis and morphomolecular signatures associated with specific neoplasms and provide new horizons for precision medicine and targeted therapies.

Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder.

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Renato Polimanti

2017-02-01

Full Text Available The human brain is the outcome of innumerable evolutionary processes; the systems genetics of psychiatric disorders could bear their signatures. On this basis, we analyzed five psychiatric disorders, attention deficit hyperactivity disorder, autism spectrum disorder (ASD, bipolar disorder, major depressive disorder, and schizophrenia (SCZ, using GWAS summary statistics from the Psychiatric Genomics Consortium. Machine learning-derived scores were used to investigate two natural-selection scenarios: complete selection (loci where a selected allele reached fixation and incomplete selection (loci where a selected allele has not yet reached fixation. ASD GWAS results positively correlated with incomplete-selection (p = 3.53*10-4. Variants with ASD GWAS p<0.1 were shown to have a 19%-increased probability to be in the top-5% for incomplete-selection score (OR = 1.19, 95%CI = 1.11-1.8, p = 9.56*10-7. Investigating the effect directions of minor alleles, we observed an enrichment for positive associations in SNPs with ASD GWAS p<0.1 and top-5% incomplete-selection score (permutation p<10-4. Considering the set of these ASD-positive-associated variants, we observed gene-expression enrichments for brain and pituitary tissues (p = 2.3*10-5 and p = 3*10-5, respectively and 53 gene ontology (GO enrichments, such as nervous system development (GO:0007399, p = 7.57*10-12, synapse organization (GO:0050808, p = 8.29*10-7, and axon guidance (GO:0007411, p = 1.81*10-7. Previous genetic studies demonstrated that ASD positively correlates with childhood intelligence, college completion, and years of schooling. Accordingly, we hypothesize that certain ASD risk alleles were under positive selection during human evolution due to their involvement in neurogenesis and cognitive ability.

Pleiotropy of genetic variants on obesity and smoking phenotypes: Results from the Oncoarray Project of The International Lung Cancer Consortium.

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Tao Wang

Full Text Available Obesity and cigarette smoking are correlated through complex relationships. Common genetic causes may contribute to these correlations. In this study, we selected 241 loci potentially associated with body mass index (BMI based on the Genetic Investigation of ANthropometric Traits (GIANT consortium data and calculated a BMI genetic risk score (BMI-GRS for 17,037 individuals of European descent from the Oncoarray Project of the International Lung Cancer Consortium (ILCCO. Smokers had a significantly higher BMI-GRS than never-smokers (p = 0.016 and 0.010 before and after adjustment for BMI, respectively. The BMI-GRS was also positively correlated with pack-years of smoking (p<0.001 in smokers. Based on causal network inference analyses, seven and five of 241 SNPs were classified to pleiotropic models for BMI/smoking status and BMI/pack-years, respectively. Among them, three and four SNPs associated with smoking status and pack-years (p<0.05, respectively, were followed up in the ever-smoking data of the Tobacco, Alcohol and Genetics (TAG consortium. Among these seven candidate SNPs, one SNP (rs11030104, BDNF achieved statistical significance after Bonferroni correction for multiple testing, and three suggestive SNPs (rs13021737, TMEM18; rs11583200, ELAVL4; and rs6990042, SGCZ achieved a nominal statistical significance. Our results suggest that there is a common genetic component between BMI and smoking, and pleiotropy analysis can be useful to identify novel genetic loci of complex phenotypes.

MR enterography in nonresponsive adult celiac disease: Correlation with endoscopic, pathologic, serologic, and genetic features.

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Radmard, Amir Reza; Hashemi Taheri, Amir Pejman; Salehian Nik, Elham; Kooraki, Soheil; Kolahdoozan, Shadi; Mirminachi, Babak; Sotoudeh, Masoud; Ekhlasi, Golnaz; Malekzadeh, Reza; Shahbazkhani, Bijan

2017-10-01

To assess small bowel abnormalities on magnetic resonance enterography (MRE) in adult patients with nonresponsive celiac disease (CD) and investigate their associations with endoscopic, histopathologic, serologic, and genetic features. This prospective study was carried out between September 2012 and August 2013. After approval by the Ethics Committee of our institution, informed consent was acquired from all participants. Forty consecutive patients with nonresponsive CD, aged 17-76 years, underwent MRE using a 1.5T unit. Sequences included T 2 -HASTE, True-FISP, pre- and postcontrast VIBE to assess the quantitative (number of ileal and jejunal folds) and qualitative (fold pattern abnormalities, mural thickening, increased enhancement, bowel dilatation, or intussusception) measures. Endoscopic manifestations were categorized as normal/mild vs. severe. Histopathological results were divided into mild and severe. Genotyping of HLA-DQ2 and DQ8 was performed. Serum levels of tissue-transglutaminase, endomysial, and gliadin antibodies were also determined. Logistic regression analysis and receiver operating characteristic (ROC) curve were used. Twenty-nine (72.5%) cases showed abnormal MRE. Reversed jejunoileal fold pattern had significant association with severe endoscopic (odds ratio [OR] = 8.38, 95% confidence interval [CI] 1.73-40.5) and pathologic features (OR = 7.36, 95% CI 1.33-40.54). An increased number of ileal folds/inch was significantly associated with severe MARSH score and positive HLA-DQ8. (P reversal on MRE is highly associated with endoscopic and pathologic features of refractory celiac disease (RCD). Increased ileal folds showed higher correlation with endoscopic-pathologic features, HLA-DQ8, and anti-transglutaminase level. MRE might be more sensitive for detection of increased ileal folds in CD rather than reduction of duodenal and jejunal folds due to better distension of ileal loops. 2 Technical Efficacy: Stage 3 J. Magn. Reson. Imaging 2017

Genetic variability, correlation and path analysis in sponge gourd ...

African Journals Online (AJOL)

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2013-02-06

Feb 6, 2013 ... fiber used in industries for filter and cleaning the motor car, glass wares, kitchen ... The fibrous vascular system inside the fruit after been separated from the skin, ... was carried out to gather information on genetic variability ...

Detrimental effect of selection for milk yield on genetic tolerance to heat stress in purebred Zebu cattle: Genetic parameters and trends.

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Santana, M L; Pereira, R J; Bignardi, A B; Filho, A E Vercesi; Menéndez-Buxadera, A; El Faro, L

2015-12-01

In an attempt to determine the possible detrimental effects of continuous selection for milk yield on the genetic tolerance of Zebu cattle to heat stress, genetic parameters and trends of the response to heat stress for 86,950 test-day (TD) milk yield records from 14,670 first lactations of purebred dairy Gir cows were estimated. A random regression model with regression on days in milk (DIM) and temperature-humidity index (THI) values was applied to the data. The most detrimental effect of THI on milk yield was observed in the stage of lactation with higher milk production, DIM 61 to 120 (-0.099kg/d per THI). Although modest variations were observed for the THI scale, a reduction in additive genetic variance as well as in permanent environmental and residual variance was observed with increasing THI values. The heritability estimates showed a slight increase with increasing THI values for any DIM. The correlations between additive genetic effects across the THI scale showed that, for most of the THI values, genotype by environment interactions due to heat stress were less important for the ranking of bulls. However, for extreme THI values, this type of genotype by environment interaction may lead to an important error in selection. As a result of the selection for milk yield practiced in the dairy Gir population for 3 decades, the genetic trend of cumulative milk yield was significantly positive for production in both high (51.81kg/yr) and low THI values (78.48kg/yr). However, the difference between the breeding values of animals at high and low THI may be considered alarming (355kg in 2011). The genetic trends observed for the regression coefficients related to general production level (intercept of the reaction norm) and specific ability to respond to heat stress (slope of the reaction norm) indicate that the dairy Gir population is heading toward a higher production level at the expense of lower tolerance to heat stress. These trends reflect the genetic

Evolution of Genetic Variance during Adaptive Radiation.

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Walter, Greg M; Aguirre, J David; Blows, Mark W; Ortiz-Barrientos, Daniel

2018-04-01

Genetic correlations between traits can concentrate genetic variance into fewer phenotypic dimensions that can bias evolutionary trajectories along the axis of greatest genetic variance and away from optimal phenotypes, constraining the rate of evolution. If genetic correlations limit adaptation, rapid adaptive divergence between multiple contrasting environments may be difficult. However, if natural selection increases the frequency of rare alleles after colonization of new environments, an increase in genetic variance in the direction of selection can accelerate adaptive divergence. Here, we explored adaptive divergence of an Australian native wildflower by examining the alignment between divergence in phenotype mean and divergence in genetic variance among four contrasting ecotypes. We found divergence in mean multivariate phenotype along two major axes represented by different combinations of plant architecture and leaf traits. Ecotypes also showed divergence in the level of genetic variance in individual traits and the multivariate distribution of genetic variance among traits. Divergence in multivariate phenotypic mean aligned with divergence in genetic variance, with much of the divergence in phenotype among ecotypes associated with changes in trait combinations containing substantial levels of genetic variance. Overall, our results suggest that natural selection can alter the distribution of genetic variance underlying phenotypic traits, increasing the amount of genetic variance in the direction of natural selection and potentially facilitating rapid adaptive divergence during an adaptive radiation.

Cognitive ability correlates positively with son birth and predicts cross-cultural variation of the offspring sex ratio

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Dama, Madhukar Shivajirao

2013-06-01

Human populations show remarkable variation in the sex ratio at birth which is believed to be related to the parental condition. In the present study, the global variation of sex ratio at birth (SRB, proportion of male offspring born) was analyzed with respect to indirect measure of condition, the intelligence quotient (IQ). IQ correlates strongly with lifespan across nations, which makes it a good indicator of health of the large populations. Relation between three standard measures of average national IQ and SRB was studied using multiple linear regression models. Average national IQ was positively correlated with SRB ( r = 0.54 to 0.57, p difference in general condition of populations.

Positive expression of LSD1 and negative expression of E-cadherin correlate with metastasis and poor prognosis of colon cancer.

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Jie, Ding; Zhongmin, Zhang; Guoqing, Liao; Sheng, Liu; Yi, Zhang; Jing, Wen; Liang, Zeng

2013-06-01

The first identified lysine-specific demethylase, LSD1, plays an important role in the metastatic progression of several types of cancer. The aim of this study was to investigate LSD1, E-cadherin, and N-cadherin expression in colon cancer specimens and their clinical significance. The expression of LSD1, E-cadherin, and N-cadherin in colon cancer specimens was determined by immunohistochemistry, and the relationship between the expression of the respective molecules and clinicopathological characteristics was analyzed. The positive expression rates of LSD1, E-cadherin, and N-cadherin in colon cancer specimens were 66.7 % (72/108), 85.2 % (92/108), and 41.7 % (45/108), respectively. LSD1 was significantly more highly expressed in colon cancer specimens classified as high TNM stage lesions and with distant metastasis (P colon cancer specimens classified as high TNM stage lesions and with distant metastasis (P clinical and pathological characteristics (P > 0.05). Correlation analysis revealed that LSD1 expression was negatively correlated with E-cadherin expression (r s = -0.318, P = 0.001), but not evidently correlated with N-cadherin expression (r s = 0.182, P = 0.06). Colon cancer specimens with positive LSD1 expression and negative E-cadherin expression were correlated with significantly lower overall survival. LSD1 showed a significantly higher expression, in contrast to the significantly lower expression of E-cadherin, in colon cancer specimens classified as high TNM stage lesions and with distant metastasis. Positive expression of LSD1 and negative expression of E-cadherin may be predictors of a worse colon cancer prognosis.

Estimation of Genetic Parameters of Kleiber Ratio and Growth Traits in Kurdish Sheep

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Davoud Ali Saghi

2016-11-01

factors on ADG and KR traits can be explained in part by differences in endocrine system of male and female lambs, limited uterine space (especially in young ewes, insufficient availability of nutrients during pregnancy and early lactation and competition for milk consumption between twin lambs. The model including direct additive genetic effects, maternal genetic effects as well as maternal permanent environmental effects, without considering covariance between them (model 5 was determined as the most appropriate model for ADG0-3 and KR1. The most appropriate model for ADG3-6 and KR2 was included a maternal genetic effects as well as direct additive genetic effects, with considering covariance between them (model 4. Direct heritability estimates for the considered traits were relatively medium ranging from 0.11 (ADG0-3 and KR1 to 0.19 (KR4. Estimated maternal heritability and ratio of maternal permanent environmental effects to phenotypic variance for ADG0-3 was 0.11 and 0.04, respectively. Estimated values for direct and maternal heritabilities of ADG traits were well consistent with some of the published values.Direct heritability estimate for KR1 was higher than maternal heritability and lower than ratio of maternal permanent environmental effects to phenotypic variance estimates (0.11, 0.06 and 0.12, respectively. The relatively low heritability estimates for the studied traits can be perhaps explained by the low nutritional management, low quality of pastures and harsh climaticb conditions, which result in a high environmental variance. Genetic correlation among ADG traits varied from 0.18 (ADG3-6-ADG9-12 to 0.57 (ADG0-3-ADG3-6. Similar to our estimate, positive correlations between ADG traits have been reported by Abegaz et al. (2 for Horro sheep. Absoulate value of phenotypic correlation between ADG traits were 0.02 for ADG3-6-ADG9-12 to 0.23 for ADG0-3-ADG3-6. Positive genetic correlations between ADG0-3 and ADG3-6 in the presence of negative phenotypic

Genetic structure of personality factors and bipolar disorder in families segregating bipolar disorder.

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Hare, Elizabeth; Contreras, Javier; Raventos, Henriette; Flores, Deborah; Jerez, Alvaro; Nicolini, Humberto; Ontiveros, Alfonso; Almasy, Laura; Escamilla, Michael

2012-02-01

Bipolar disorder (BPD) has been associated with variations in personality dimensions, but the nature of this relationship has been unclear. In this study, the heritabilities of BPD and the Big Five personality factors and the genetic correlations between BPD and personality factors are reported. The participants in this study were 1073 individuals from 172 families of Mexican or Central American ancestry. Heritabilities and genetic correlations were calculated under a polygenic model using the maximum-likelihood method of obtaining variance components implemented in the SOLAR software package. Heritabilities of 0.49, 0.43, and 0.43 were found for the narrowest phenotype (schizoaffective bipolar and bipolar I), the intermediate phenotype (schizoaffective bipolar, bipolar I, and bipolar II), and the broadest phenotype (schizoaffective bipolar, bipolar I, bipolar II, and recurrent depression), respectively. For the Big Five personality factors, heritabilities were 0.25 for agreeableness, 0.24 for conscientiousness, 0.24 for extraversion, 0.23 for neuroticism, and 0.32 for openness to experience. For the narrowest phenotype, a significant negative correlation (-0.32) with extraversion was found. For the broadest phenotype, negative correlations were found for agreeableness (-0.35), conscientiousness (-0.39), and extraversion (-0.44). A positive correlation (0.37) was found with neuroticism. It is not possible to determine whether aspects of personality are factors in the development of bipolar disorder or vice versa. The short form of the NEO does not provide the ability to examine in detail which facets of extraversion are most closely related to bipolar disorder or to compare our results with studies that have used the long version of the scale. This study establishes a partial genetic basis for the Big Five personality factors in this set of families, while the environmental variances demonstrate that non-genetic factors are also important in their influence on

Study of correlations of positive and negative charged particles

International Nuclear Information System (INIS)

Takahashi, Y.; Chan, C.H.; Dong, B.L.; Duthie, J.G.; Gregory, J.C.; Hayashi, T.; Yokomi, H.; Christl, M.J.; Derrickson, J.H.; Eby, P.B.; Fountain, W.F.; Parnell, T.A.; Roberts, F.E.; Nagamiya, S.; Dake, S.; Tominaga, T.; Fuki, M.; Iyono, A.; Ogata, T.; Miyamura, O.

1991-01-01

Particle correlations of the central collision events of 32 S + Pb at 200 GeV/AMU have been studied by utilizing a Magnetic-Interferomagnetic-Emulsion-Chamber (MAGIC) detector. Particle angles, momentum, and charge-signs are measured for all produced charged tracks for each event. Two-particle correlation functions, C 2 = dN (vertical strokep 1 - p 2 vertical stroke = q)/dp 1 dp 2 , for (++), (--) and (+-) particles are examined. A source radius around 4 - 6 fm is observed for overall identical particle correlations, while unexpected short-range correlations of unlike-sign pairs are observed in the high rapidity region. An analysis of unlike-sign pairs in terms of resonance decays indicated that a large amount (40% relative to pions) of η or ω mesons (decaying into 3 π), or of scalar iso-scalar σ mesons (decaying into 2 π) would be required to explain some of the data. Multi-particle charge-sign clusters are recognized; however, their 'run-test' and 'conjugate-test' show small deviations from statistical fluctuations. (orig.)

The Genetic Basis of Plant Architecture in 10 Maize Recombinant Inbred Line Populations.

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Pan, Qingchun; Xu, Yuancheng; Li, Kun; Peng, Yong; Zhan, Wei; Li, Wenqiang; Li, Lin; Yan, Jianbing

2017-10-01

Plant architecture is a key factor affecting planting density and grain yield in maize ( Zea mays ). However, the genetic mechanisms underlying plant architecture in diverse genetic backgrounds have not been fully addressed. Here, we performed a large-scale phenotyping of 10 plant architecture-related traits and dissected the genetic loci controlling these traits in 10 recombinant inbred line populations derived from 14 diverse genetic backgrounds. Nearly 800 quantitative trait loci (QTLs) with major and minor effects were identified as contributing to the phenotypic variation of plant architecture-related traits. Ninety-two percent of these QTLs were detected in only one population, confirming the diverse genetic backgrounds of the mapping populations and the prevalence of rare alleles in maize. The numbers and effects of QTLs are positively associated with the phenotypic variation in the population, which, in turn, correlates positively with parental phenotypic and genetic variations. A large proportion (38.5%) of QTLs was associated with at least two traits, suggestive of the frequent occurrence of pleiotropic loci or closely linked loci. Key developmental genes, which previously were shown to affect plant architecture in mutant studies, were found to colocalize with many QTLs. Five QTLs were further validated using the segregating populations developed from residual heterozygous lines present in the recombinant inbred line populations. Additionally, one new plant height QTL, qPH3 , has been fine-mapped to a 600-kb genomic region where three candidate genes are located. These results provide insights into the genetic mechanisms controlling plant architecture and will benefit the selection of ideal plant architecture in maize breeding. © 2017 American Society of Plant Biologists. All Rights Reserved.

Negative relationship behavior is more important than positive: Correlates of outcomes during stressful life events.

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Rivers, Alannah Shelby; Sanford, Keith

2018-04-01

When people who are married or cohabiting face stressful life situations, their ability to cope may be associated with two separate dimensions of interpersonal behavior: positive and negative. These behaviors can be assessed with the Couple Resilience Inventory (CRI). It was expected that scales on this instrument would correlate with outcome variables regarding life well-being, stress, and relationship satisfaction. It was also expected that effects for negative behavior would be larger than effects for positive and that the effects might be curvilinear. Study 1 included 325 married or cohabiting people currently experiencing nonmedical major life stressors and Study 2 included 154 married or cohabiting people with current, serious medical conditions. All participants completed an online questionnaire including the CRI along with an alternate measure of couple behavior (to confirm scale validity), a measure of general coping style (to serve as a covariate), and measures of outcome variables regarding well-being, quality of life, perceived stress, and relationship satisfaction. The effects for negative behavior were larger than effects for positive in predicting most outcomes, and many effects were curvilinear. Notably, results remained significant after controlling for general coping style, and scales measuring positive and negative behavior demonstrated comparable levels of validity. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

Physical properties of naked DNA influence nucleosome positioning and correlate with transcription start and termination sites in yeast

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Soler-López Montserrat

2011-10-01

Full Text Available Abstract Background In eukaryotic organisms, DNA is packaged into chromatin structure, where most of DNA is wrapped into nucleosomes. DNA compaction and nucleosome positioning have clear functional implications, since they modulate the accessibility of genomic regions to regulatory proteins. Despite the intensive research effort focused in this area, the rules defining nucleosome positioning and the location of DNA regulatory regions still remain elusive. Results Naked (histone-free and nucleosomal DNA from yeast were digested by microccocal nuclease (MNase and sequenced genome-wide. MNase cutting preferences were determined for both naked and nucleosomal DNAs. Integration of their sequencing profiles with DNA conformational descriptors derived from atomistic molecular dynamic simulations enabled us to extract the physical properties of DNA on a genomic scale and to correlate them with chromatin structure and gene regulation. The local structure of DNA around regulatory regions was found to be unusually flexible and to display a unique pattern of nucleosome positioning. Ab initio physical descriptors derived from molecular dynamics were used to develop a computational method that accurately predicts nucleosome enriched and depleted regions. Conclusions Our experimental and computational analyses jointly demonstrate a clear correlation between sequence-dependent physical properties of naked DNA and regulatory signals in the chromatin structure. These results demonstrate that nucleosome positioning around TSS (Transcription Start Site and TTS (Transcription Termination Site (at least in yeast is strongly dependent on DNA physical properties, which can define a basal regulatory mechanism of gene expression.

Strategies for MCMC computation in quantitative genetics

DEFF Research Database (Denmark)

Waagepetersen, Rasmus; Ibánez, N.; Sorensen, Daniel

2006-01-01

Given observations of a trait and a pedigree for a group of animals, the basic model in quantitative genetics is a linear mixed model with genetic random effects. The correlation matrix of the genetic random effects is determined by the pedigree and is typically very highdimensional but with a sp...

Prospective Assessment of Optimal Individual Position (Prone Versus Supine) for Breast Radiotherapy: Volumetric and Dosimetric Correlations in 100 Patients

International Nuclear Information System (INIS)

Lymberis, Stella C.; Wyngaert, John Keith de; Parhar, Preeti; Chhabra, Arpit M.; Fenton-Kerimian, Maria; Chang Jengwha; Hochman, Tsivia; Guth, Amber; Roses, Daniel; Goldberg, Judith D.; Formenti, Silvia C.

2012-01-01

Purpose: Damage to heart and lung from breast radiotherapy is associated with increased cardiovascular mortality and lung cancer development. We conducted a prospective study to evaluate which position is best to spare lung and heart from radiotherapy exposure. Methods and Materials: One hundred consecutive Stage 0–IIA breast cancer patients consented to participate in a research trial that required two computed tomography simulation scans for planning both supine and prone positions. The optimal position was defined as that which best covered the contoured breast and tumor bed while it minimized critical organ irradiation, as quantified by the in-field heart and lung volume. The trial was designed to plan the first 100 patients in each position to study correlations between in-field volumes of organs at risk and dose. Results: Fifty-three left and 47 right breast cancer patients were consecutively accrued to the trial. In all patients, the prone position was optimal for sparing lung volume compared to the supine setup (mean lung volume reduction was 93.5 cc for right and 103.6 cc for left breast cancer patients). In 46/53 (87%) left breast cancer patients best treated prone, in-field heart volume was reduced by a mean of 12 cc and by 1.8 cc for the other 7/53 (13%) patients best treated supine. As predicted, supine-prone differences in in-field volume and mean dose of heart and lung were highly correlated (Spearman's correlation coefficient for left breast cancer patients was 0.90 for heart and 0.94 for lung and 0.92 for right breast cancer patients for lung). Conclusions: Prone setup reduced the amount of irradiated lung in all patients and reduced the amount of heart volume irradiated in 87% of left breast cancer patients. In-field organ volume is a valid surrogate for predicting dose; the trial continued to the planned target of 400.

Positive schizotypy scores correlate with left visual field interference for negatively valenced emotional words: A lateralized emotional Stroop study.

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Van Strien, Jan W; Van Kampen, Dirk

2009-10-30

Fourteen men scoring high and 14 men scoring low on a positive schizotypy scale participated in a lateralized emotional Stroop task. Vocal reaction times for color naming of neutral, positive and negative emotional words were recorded. Across participants, the color naming of neutral and emotional words was slightly faster to right than to left visual field presentations. In men with high scores on positive schizotypy, the presentation of negative words to the left visual field (right hemisphere) resulted in significant affective interference with color naming, which was significantly larger than in men with low scores. Correlational analysis also showed that positive schizotypy was significantly associated with emotional interference in response to LVF negative words. The outcome is discussed in terms of right hemispheric engagement in negative emotions in high positive schizotypic men.

Genetics of residual feed intake in growing pigs: Relationships with production traits, and nitrogen and phosphorus excretion traits.

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Saintilan, R; Mérour, I; Brossard, L; Tribout, T; Dourmad, J Y; Sellier, P; Bidanel, J; van Milgen, J; Gilbert, H

2013-06-01

Residual feed intake (RFI) is defined as the difference between the observed ADFI and the ADFI predicted from production and maintenance requirements. The objectives of this study were to evaluate RFI as a selection criterion to improve feed efficiency and its potential to reduce N and P excretion in 4 pig breeds. Data were collected between 2000 and 2009 in French central test stations for 2 dam breeds [French Landrace (LR) and Large White (LWD)], and 2 sire breeds [Large White (LWS) and Piétrain (PP)]. Numbers of recorded pigs were 6407, 10,694, 2342, and 2448 for the LR, LWD, LWS, and PP breeds, respectively. All PP animals were genotyped for the halothane mutation. This data set was used to calculate RFI equations for each of the 4 breeds, and to estimate genetic parameters for RFI together with growth, carcass, and meat quality traits, and N and P excretion during the test period (35 to 110 kg BW). The RFI explained 20.1% in PP, 26.5% in LWS, 27.6% in LWD, and 29.5% in LR of the phenotypic variability of ADFI. The PP breed differed from the others in this respect, probably due to a lower impact of the variation of body composition on ADFI. Heritability estimates of RFI ranged from 0.21 ± 0.03 (LWD) to 0.33 ± 0.06 (PP) depending on the breed. Heritabilities of N and P excretion traits ranged from 0.29 ± 0.06 to 0.40 ± 0.06. The RFI showed positive genetic correlations with feed conversion ratio (FCR) and excretion traits, these correlations being greater in the sire breeds (from 0.57 to 0.86) than in the dam breeds (from 0.38 to 0.53). Compared with FCR, RFI had weaker genetic correlations with carcass composition, growth rate, and excretion traits. Estimates of genetic correlations between FCR and excretion traits were very close to 1 for all breeds. Finally, excretion traits were, at the genetic level, correlated positively with ADFI, negatively with growth rate and carcass leanness, whereas the halothane n mutation in PP was shown to reduce N and P

Experimental assessment of the importance of amino acid positions identified by an entropy-based correlation analysis of multiple-sequence alignments.

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Dietrich, Susanne; Borst, Nadine; Schlee, Sandra; Schneider, Daniel; Janda, Jan-Oliver; Sterner, Reinhard; Merkl, Rainer

2012-07-17

The analysis of a multiple-sequence alignment (MSA) with correlation methods identifies pairs of residue positions whose occupation with amino acids changes in a concerted manner. It is plausible to assume that positions that are part of many such correlation pairs are important for protein function or stability. We have used the algorithm H2r to identify positions k in the MSAs of the enzymes anthranilate phosphoribosyl transferase (AnPRT) and indole-3-glycerol phosphate synthase (IGPS) that show a high conn(k) value, i.e., a large number of significant correlations in which k is involved. The importance of the identified residues was experimentally validated by performing mutagenesis studies with sAnPRT and sIGPS from the archaeon Sulfolobus solfataricus. For sAnPRT, five H2r mutant proteins were generated by replacing nonconserved residues with alanine or the prevalent residue of the MSA. As a control, five residues with conn(k) values of zero were chosen randomly and replaced with alanine. The catalytic activities and conformational stabilities of the H2r and control mutant proteins were analyzed by steady-state enzyme kinetics and thermal unfolding studies. Compared to wild-type sAnPRT, the catalytic efficiencies (k(cat)/K(M)) were largely unaltered. In contrast, the apparent thermal unfolding temperature (T(M)(app)) was lowered in most proteins. Remarkably, the strongest observed destabilization (ΔT(M)(app) = 14 °C) was caused by the V284A exchange, which pertains to the position with the highest correlation signal [conn(k) = 11]. For sIGPS, six H2r mutant and four control proteins with alanine exchanges were generated and characterized. The k(cat)/K(M) values of four H2r mutant proteins were reduced between 13- and 120-fold, and their T(M)(app) values were decreased by up to 5 °C. For the sIGPS control proteins, the observed activity and stability decreases were much less severe. Our findings demonstrate that positions with high conn(k) values have an

Genetic Diversity and Population Structure of a Threatened African Tree Species, Milicia excelsa, Using Nuclear Micro satellites DNA Markers

International Nuclear Information System (INIS)

Ouinsavi, Ch.; Sokpon, N.; Ouinsavi, Ch.; Khasa, D.P.

2009-01-01

To accurately estimate the genetic diversity and population structure for improved conservation planning of Milicia excelsa tree, 212 individuals from twelve population samples covering the species' range in Benin were surveyed at seven specific micro satellite DNA loci. All loci were variable, with the mean number of alleles per locus ranging from 5.86 to 7.69. Considerable genetic variability was detected for all populations at the seven loci (AR=4.60; HE=0.811). Moderate but statistically significant genetic differentiation was found among populations considering both FST (0.112) and RST (0.342). All of the populations showed heterozygosity deficits in test of Hardy-Weinberg Equilibrium and significantly positive FIS values due to inbreeding occurring in the species. Pairwise FST values were positively and significantly correlated with geographical distances (r=0.432; P=.007, Mantel's test) indicating that populations are differentiated by isolation by distance. Bayesian analysis of population structure showed division of the genetic variation into four clusters revealing the existence of heterogeneity in population genetic structure. Altogether, these results indicate that genetic variation in Milicia excelsa is geographically structured. Information gained from this study also emphasized the need for in situ conservation of the relict populations and establishment of gene flow corridors through agroforestry systems for interconnecting these remnant populations.

Reduced Genetic Diversity in the Clown Anemonefish Amphiprion ocellaris in Exploited Reefs of Spermonde Archipelago, Indonesia

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Hawis H. Madduppa

2018-03-01

Full Text Available Populations of the clown anemonefish in Spermonde Archipelago, one of the main collection sites for ornamental fish in Indonesia, are potentially overfished, which might lead to a reduction in population size and genetic diversity. Loss of genetic diversity can reduce the adaptability, population persistence and productivity of the targeted species. Therefore, a study investigating the genetic diversity and its potential correlation to population densities of A. ocellaris was conducted. Two islands were chosen as study sites that differed in the degree of exploitation. Barrang Lompo has a high fishing pressure, whereas Samalona has less. Underwater visual censuses showed that population densities in Samalona were threefold higher than in Barrang Lompo (p = 0.005. Analysis of eight microsatellite loci in 364 tissue samples of A. ocellaris revealed that genetic diversity (numbers of alleles, private alleles, and allelic richness was significantly reduced at the island with high fishing pressure. Allelic richness was also positively correlated with fish density (p < 0.05. These results indicate that ornamental fishery might be a factor contributing to the loss of genetic diversity in A. ocellaris. Therefore, the marine ornamental trade in Spermonde Archipelago needs to be managed (e.g., management of the fishing strategy, implementation of marine protected areas, regular monitoring, and quota determination. Otherwise the populations of A. ocellaris might collapse.

Life extension and the position of the hormetic zone depends on sex and genetic background in Drosophila melanogaster.

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Sarup, Pernille; Loeschcke, Volker

2011-04-01

Hormesis, the beneficial effect of a mild stress, has been proposed as a means to prolong the period of healthy ageing as it can increase the average lifespan of a cohort. However, if we want to use hormesis therapeutically it is important that the treatment is beneficial on the individual level and not just on average at the population level. Long lived lines have been shown not to benefit from a, in other lines, hormesis inducing heat treatment in Drosophila melanogaster, D. buzzatii and mice. Also in many experiments hormesis has been reported to occur in one sex only, usually males but not in females. Here we investigated the interaction between the hormetic response and genetic background, sex and duration of a mild heat stress in D. melanogaster, using three replicate lines that have been selected for increased longevity and their respective control lines. We found that genetic background influences the position of the hormetic zone. The implication of this result could be that in a genetically diverse populations a treatment that is life prolonging in one individual could be life shortening in other individuals. However, we did find a hormetic response in all combinations of line and sex in at least one of the experiments which suggests that if it is possible to identify the optimal hormetic dose individually hormesis might become a therapeutic treatment.

Genetic Influences on Adolescent Sexual Behavior: Why Genes Matter for Environmentally-Oriented Researchers

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Harden, K. Paige

2013-01-01

There are dramatic individual differences among adolescents in how and when they become sexually active adults, and “early” sexual activity is frequently cited as a cause of concern for scientists, policymakers, and the general public. Understanding the causes and developmental impact of adolescent sexual activity can be furthered by considering genes as a source of individual differences. Quantitative behavioral genetics (i.e., twin and family studies) and candidate gene association studies now provide clear evidence for the genetic underpinnings of individual differences in adolescent sexual behavior and related phenotypes. Genetic influences on sexual behavior may operate through a variety of direct and indirect mechanisms, including pubertal development, testosterone levels, and dopaminergic systems. Genetic differences may be systematically associated with exposure to environments that are commonly treated as causes of sexual behavior (gene-environment correlation). Possible gene-environment correlations pose a serious challenge for interpreting the results of much behavioral research. Multivariate, genetically-informed research on adolescent sexual behavior compares twins and family members as a form of “quasi-experiment”: How do twins who differ in their sexual experiences differ in their later development? The small but growing body of genetically-informed research has already challenged dominant assumptions regarding the etiology and sequelae of adolescent sexual behavior, with some studies indicating possible positive effects of teenage sexuality. Studies of gene × environment interaction may further elucidate the mechanisms by which genes and environments combine to shape the development of sexual behavior and its psychosocial consequences. Overall, the existence of heritable variation in adolescent sexual behavior has profound implications for environmentally-oriented theory and research. PMID:23855958

Glenohumeral position during CT arthrography with arthroscopic correlation: optimization of diagnostic yield

Energy Technology Data Exchange (ETDEWEB)

Simeone, F.J.; Gill, Corey M.; Torriani, Martin; Bredella, Miriam A. [Massachusetts General Hospital and Harvard Medical School, Division of Musculoskeletal Imaging and Intervention, Boston, MA (United States); Taneja, Atul K. [Hospital Israelita Albert Einstein, Hospital do Coracao (HCor) and Teleimagem, Musculoskeletal Imaging, Sao Paulo, SP (Brazil)

2017-06-15

To evaluate the diagnostic yield of two acquisitions of single-contrast CT arthrography (CTA) of the shoulder in internal, neutral, or external glenohumeral rotation with arthroscopic correlation. The CT study was obtained using two acquisitions (first the humerus positioned in maximum tolerated external rotation with the arm along the body and the second with the humerus in internal rotation with the palm placed flat on the table). Two independent readers blinded to the arthroscopic results evaluated the CTA images for labral tears, glenoid bone loss/fractures, and cartilage loss. For each CTA acquisition, sensitivity and specificity for detection of the aforementioned pathology were assessed. Inter-reader agreement was quantified by weighted k statistics. Sensitivity and specificity for detecting anteroinferior or posterior labral tears was highest with neutral rotation (sensitivity 91-100%, specificity 61-100%). For glenoid fracture, sensitivity (67%) was highest with external rotation and specificity (100%) was highest with internal rotation. For cartilage loss, sensitivity (64%) and specificity (89%) was highest with external rotation and neutral rotation, respectively. Neutral rotation showed high sensitivity and specificity for glenoid fractures and cartilage loss. Inter-reader agreement ranged from fair to very good. Neutral glenohumeral position in shoulder CT arthrography was adequately sensitive and specific for the detection of intra-articular pathology, avoiding the use of more than one acquisition. (orig.)

Genetic structure of Potentilla acaulis (Rosaceae) populations ...

African Journals Online (AJOL)

Jane

2011-07-18

Jul 18, 2011 ... populations based on randomly amplified polymorphic. DNA (RAPD) in habitat ..... the correlation between ΦST values and genetic distances was highly ... Propagule recruitment from genets of perennial clonal plants could ...

Correlation between genetic polymorphism of matrix metalloproteinase-9 in patients with coronary artery disease and cardiac remodeling.

Science.gov (United States)

Yu, Qibin; Li, Hanmei; Li, Linlin; Wang, Shaoye; Wu, Yongbo

2015-01-01

To explore the correlation between genetic polymorphism of matrix metalloproteinase-9 (MMP-9) in patients with coronary artery disease (CAD) and cardiac remodeling. A total of 272 subjects who received coronary angiography in our hospital from July 2008 to September 2013 were selected, including 172 CAD patients (CAD group) and another 100 ones (control group). Both groups were subjected to MMP-9 and ultrasonic detections to determine vascular remodeling and atherosclerotic plaques. C1562G polymorphism of MMP-9 gene was detected, and correlation with vascular remodeling and atherosclerotic plaque was analyzed. Serum MMP-9 level of CAD group (330.87±50.39 ng/ml) was significantly higher than that of control group (134.87±34.02 ng/ml) (P<0.05). Compared with control group, CAD group had significantly higher intima-media thickness, and significantly lower systolic peak velocity, mean systolic velocity and end-diastolic velocity (P<0.05). Total area of stenotic blood vessels was 67.34±22.98 mm(2), while that of control blood vessels was 64.00±20.83 mm(2). G/G, G/C and C/C genotype frequencies of MMP-9 differed significantly in the two groups (P<0.05). G and C allele frequencies of CAD group (70.9% and 29.1%) were significantly different from those of control group (50.0% and 50.0%) (P<0.05). G/G, G/C and C/C genotypes were manifested as lipid-rich, fibrous and calcified or ulcerated plaques respectively. Total area of stenotic blood vessels of G/G genotype significantly exceeded those of G/C and C/C genotypes (P<0.05), whereas the latter two had no significant differences. CAD promoted 1562C-G transformation of MMP-9 gene into genetic polymorphism, thus facilitating arterial remodeling and increasing unstable atherosclerotic plaques.

Cross-Disorder Genetic Analysis of Tic Disorders, Obsessive?Compulsive, and Hoarding Symptoms

OpenAIRE

Zilh?o, Nuno R.; Smit, Dirk J.; Boomsma, Dorret I.; Cath, Danielle C.

2016-01-01

Hoarding, obsessive–compulsive disorder (OCD), and Tourette’s disorder (TD) are psychiatric disorders that share symptom overlap, which might partly be the result of shared genetic variation. Population-based twin studies have found significant genetic correlations between hoarding and OCD symptoms, with genetic correlations varying between 0.1 and 0.45. For tic disorders, studies examining these correlations are lacking. Other lines of research, including clinical samples and GWAS or CNV dat...

What Use Is Population Genetics?

Science.gov (United States)

Charlesworth, Brian

2015-07-01

The Genetic Society of America's Thomas Hunt Morgan Medal is awarded to an individual GSA member for lifetime achievement in the field of genetics. For over 40 years, 2015 recipient Brian Charlesworth has been a leader in both theoretical and empirical evolutionary genetics, making substantial contributions to our understanding of how evolution acts on genetic variation. Some of the areas in which Charlesworth's research has been most influential are the evolution of sex chromosomes, transposable elements, deleterious mutations, sexual reproduction, and life history. He also developed the influential theory of background selection, whereby the recurrent elimination of deleterious mutations reduces variation at linked sites, providing a general explanation for the correlation between recombination rate and genetic variation. Copyright © 2015 by the Genetics Society of America.