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Sample records for monozygotic female twins

  1. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.

    Science.gov (United States)

    De Gregorio, Laura; Jinnah, H A; Harris, James C; Nyhan, William L; Schretlen, David J; Trombley, Lucy M; O'Neill, J Patrick

    2005-05-01

    Lesch-Nyhan disease (LND) is an inborn error of purine metabolism caused by defective activity of the enzyme hypoxanthine guanine phosphoribosyl transferase (HPRT, EC 2.4.2.8), resulting from mutation in the corresponding gene on the long arm of the X chromosome (Xq26). The classic phenotype occurs almost exclusively in males and is characterized by hyperuricemia, mental retardation, severe dystonia, and self-injurious behavior. Heterozygous carrier females are usually clinically normal. However, a small number of clinically affected females have been described. In all previous cases there was a mutation in one HPRT allele and non-random inactivation of the X chromosome carrying the normal HPRT gene. We have analyzed a female MZ twin pair discordant for Lesch-Nyhan disease. The mother and both twins are heterozygous carriers of a HPRT splicing mutation (IVS8 + 4A > G; c.609 + 4A > G) and all three express the mutant allele at similar frequencies in peripheral blood T cells. The mother and one sister are clinically normal. In the affected twin, the clinical phenotype is classical for Lesch-Nyhan disease, despite the fact that HPRT activity in the blood was also normal. X inactivation analysis showed a skewed pattern in the fibroblasts of the affected twin sister, with the X chromosome carrying the normal HPRT allele preferentially inactivated. As in many other reported cases of X-linked diseases, the discordant phenotype of the two monozygous twin sisters suggests that the process responsible for monozygotic twinning can trigger skewed X inactivation.

  2. Simultaneous Intussusception in Monozygotic Twins

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    Mete Kaya

    2014-12-01

    Full Text Available In this case report, it was aimed to present the simultaneously occurring intussusception in the monozygotic twins. In addition to genetic predisposition, environmental factors has been hypothesized to be responsible for the development of the disease.

  3. Geographic Tongue in Monozygotic Twins

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    Shekhar M, Guna

    2014-01-01

    This article discusses a case of 5-year-old girl monozygotic twins who were suffering from geographic tongue (GT), a benign inflammatory disorder of the tongue which is characterized by circinate, irregular erythematous lesions on the dorsum and lateral borders of the tongue caused by loss of filiform papillae of the tongue epithelium. Whilst geographic tongue is a common entity, reports on this condition are uncommon in the literature. To best of our knowledge, this is the first report which...

  4. Multiple rectal carcinoid tumors in monozygotic twins.

    Science.gov (United States)

    Doi, Momoko; Ikawa, Osamu; Taniguchi, Hiroki; Kawamura, Takuji; Katsura, Kanade

    2016-08-01

    We report multiple rectal carcinoid tumors in monozygotic twins who, respectively, had 42 and 36 carcinoid tumors in the lower rectum. This is the first report about carcinoid tumors in monozygotic twins. Both twins developed a similar number of rectal carcinoids with a similar distribution. Investigation of their genetic background may provide information about the origin of these tumors.

  5. Culture systems: embryo culture and monozygotic twinning.

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    Sparks, Amy E

    2012-01-01

    The incidence of monozygotic twinning in pregnancies achieved with assisted reproductive technologies (ART) is significantly higher than spontaneously conceived pregnancies. The factors associated with ART that predispose the embryos to splitting are not well-characterized. Assisted hatching and extended embryo culture are two ART laboratory methods that have been risk factors for monozygotic twinning. The methods and strategies that may be employed to avoid monozygotic twinning are discussed in this chapter.

  6. A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210

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    K. N. Venkateshwara Prasad

    2013-01-01

    Full Text Available Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of monozygotic female twins discordant for Goldenhar syndrome with hemifacial microsomia and the dysplasia of auricular pinna.

  7. Differential methylation of the X-chromosome is a possible source of discordance for bipolar disorder female monozygotic twins

    NARCIS (Netherlands)

    Rosa, Araceli; Picchioni, Marco M.; Kalidindi, Sridevi; Loat, Caroline S.; Knight, Joanne; Toulopoulou, Timothea; Vonk, Ronald; van der Schot, Astrid C.; Nolen, Willem; Kahn, Rene S.; McGuffin, Peter; Murray, Robin M.; Craig, Ian W.

    2008-01-01

    Monozygotic (MZ) twins may be subject to epigenetic modifications that could result in different patterns of gene expression. Several lines of evidence suggest that epigenetic factors may underlie mental disorders such as bipolar disorder (BD) and schizophrenia (SZ). One important epigenetic

  8. Differential methylation of the X-chromosome is a possible source of discordance for bipolar disorder female monozygotic twins

    NARCIS (Netherlands)

    Rosa, Araceli; Picchioni, Marco M.; Kalidindi, Sridevi; Loat, Caroline S.; Knight, Joanne; Toulopoulou, Timothea; Vonk, Ronald; van der Schot, Astrid C.; Nolen, Willem; Kahn, Rene S.; McGuffin, Peter; Murray, Robin M.; Craig, Ian W.

    2008-01-01

    Monozygotic (MZ) twins may be subject to epigenetic modifications that could result in different patterns of gene expression. Several lines of evidence suggest that epigenetic factors may underlie mental disorders such as bipolar disorder (BD) and schizophrenia (SZ). One important epigenetic modific

  9. Spina bifida occulta and monozygotic twins.

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    Spacca, Barbara; Buxton, Neil

    2008-10-01

    Central nervous system maldevelopment can have different presentations in twins. We report on a case of different presentations of spina bifida occulta in monozygotic twins. The first twin presented at birth with a lipomyelomeningocele; a tethered cord was diagnosed in the second twin at 2 years of age. Neural tube defects (NTDs) are a group of common congenital malformations of the brain and spine generated during neurulation. The genetic basis of this process is still not well known. Whenever an NTD is diagnosed in one of a pair of twins, the other twin should also be evaluated for NTDs.

  10. The morphology of the sella turcica in monozygotic twins

    DEFF Research Database (Denmark)

    Brock-Jacobsen, Mette T; Pallisgaard, Carsten; Kjaer, Inger

    2009-01-01

    of 42 twin pairs (18 male and 24 female pairs, aged 18-23 years) comprised the material. Sella turcica measurements from non-twins aged 6-21 years were used as normal reference. Length, depth and diameter of the sella turcica were measured and controlled by re-measurements. Pearson's correlation...... showed that the size of the sella turcica may be partly similar and partly dissimilar within the pair of monozygotic twins. Statistical evaluation of the data showed correlations between length, depth and diameter of the sella turcica between the two twin individuals in the same twin pair. Differences...

  11. The morphology of the sella turcica in monozygotic twins.

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    Brock-Jacobsen, Mette T; Pallisgaard, Carsten; Kjaer, Inger

    2009-12-01

    The purpose was to compare the sella turcica morphology of individuals within pairs of monozygotic twins with normal karyotype and to analyze the similarity between the observed morphology and the morphology of non-twins at the same age with normal karyotype. Profile radiographs from 84 individuals of 42 twin pairs (18 male and 24 female pairs, aged 18-23 years) comprised the material. Sella turcica measurements from non-twins aged 6-21 years were used as normal reference. Length, depth and diameter of the sella turcica were measured and controlled by re-measurements. Pearson's correlation coefficient was used for comparison of individuals within twin pairs. For comparison of twins and non-twins, normal standard values for length, depth and diameter were subtracted from the twin values. For the mean values of these differences, confidence limits p values and t values were calculated. The study showed that the size of the sella turcica may be partly similar and partly dissimilar within the pair of monozygotic twins. Statistical evaluation of the data showed correlations between length, depth and diameter of the sella turcica between the two twin individuals in the same twin pair. Differences in sizes are observed between individuals in the twin material and individuals in the non-twin material. As a conclusion, the twin males were more similar within the twin pair, but deviated more from the non-twin material than the females. Female twins had more discrepancy within the twin pair, but deviated less from the non-twin material than the males.

  12. Mitochondrial DNA Copy Number in Sleep Duration Discordant Monozygotic Twins

    DEFF Research Database (Denmark)

    Wrede, Joanna E; Mengel-From, Jonas; Buchwald, Dedra

    2015-01-01

    STUDY OBJECTIVES: Mitochondrial DNA (mtDNA) copy number is an important component of mitochondrial function and varies with age, disease, and environmental factors. We aimed to determine whether mtDNA copy number varies with habitual differences in sleep duration within pairs of monozygotic twins....... SETTING: Academic clinical research center. PARTICIPANTS: 15 sleep duration discordant monozygotic twin pairs (30 twins, 80% female; mean age 42.1 years [SD 15.0]). DESIGN: Sleep duration was phenotyped with wrist actigraphy. Each twin pair included a "normal" (7-9 h/24) and "short" (sleeping...... twin. Fasting peripheral blood leukocyte DNA was assessed for mtDNA copy number via the n-fold difference between qPCR measured mtDNA and nuclear DNA creating an mtDNA measure without absolute units. We used generalized estimating equation linear regression models accounting for the correlated data...

  13. Unilateral primary pulmonary agenesis and hypoplasia in monozygotic twins.

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    Alsaadi, Muslim; Al Muqhem, Badr; Boukai, A; Iqbal, Shaikh M

    2012-01-01

    We describe 10-month-old identical female twin infants, one with primary left-sided pulmonary agenesis and the other with primary left-sided pulmonary hypoplasia. They came to our outpatient clinic complaining of persistent dry cough. The clinical examination revealed decreased air entry over the left hemithorax. Chest x-rays showed complete left-sided radio-opacity in both the twins. The chest computed tomography scan with contrast confirmed the diagnoses of left-sided pulmonary agenesis (twin A) and left-sided hypoplasia (twin B). No other associated congenital anomaly was noted in either of the twins. To our knowledge, such a condition in live monozygotic twins has not been previously reported in published studies.

  14. Chromosomal Aberrations in Monozygotic and Dizygotic Twins Versus Singletons in Denmark During 1968-2009

    DEFF Research Database (Denmark)

    Kristensen, Lone Krøldrup; Larsen, Lisbeth A; Fagerberg, Christina

    2017-01-01

    BACKGROUND: Hall (Embryologic development and monozygotic twinning. Acta Geneticae Medicae et Gemellologiae, Vol. 45, 1996, pp. 53-57) hypothesized that chromosomal aberrations can lead to monozygotic (MZ) twinning. However, twinning and chromosomal aberrations increase prenatal mortality and could...

  15. Adult glucose metabolism in extremely birthweight-discordant monozygotic twins

    DEFF Research Database (Denmark)

    Frost, M; Petersen, I; Brixen, K

    2012-01-01

    Low birthweight (BW) is associated with increased risk of type 2 diabetes. We compared glucose metabolism in adult BW-discordant monozygotic (MZ) twins, thereby controlling for genetic factors and rearing environment.......Low birthweight (BW) is associated with increased risk of type 2 diabetes. We compared glucose metabolism in adult BW-discordant monozygotic (MZ) twins, thereby controlling for genetic factors and rearing environment....

  16. Urticaria in Monozygotic and Dizygotic Twins

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    Simon Francis Thomsen

    2012-01-01

    Full Text Available Aim. To identify risk factors for urticaria, to determine the relative proportion of the susceptibility to urticaria that is due to genetic factors in an adult clinical twin sample, and to further determine whether the genetic susceptibility to urticaria overlaps with the genetic susceptibility to atopic diseases. Methods. A total of 256 complete twin pairs and 63 single twins, who were selected from sibships with self-reported asthma via a questionnaire survey of 21,162 adult twins from the Danish Twin Registry, were clinically interviewed about a history of urticaria and examined for atopic diseases. Data were analysed with Cox proportional hazards regression and variance components models. Results. A total of 151 individuals (26% had a history of urticaria, whereas 24 (4% had had symptoms within the past year. Female sex, HR=2.09 (1.46–2.99, P=0.000; hay fever, HR=1.92 (1.36–2.72, P=0.000; and atopic dermatitis, HR=1.44 (1.02–2.06, P=0.041 were significant risk factors for urticaria. After adjustment for sex and age at onset of urticaria in the index twin, the risk of urticaria was increased in MZ cotwins relative to DZ cotwins, HR=1.42 (0.63–3.18, P=0.394. Genetic factors explained 45% (16–74%, P=0.005, of the variation in susceptibility to urticaria. The genetic correlation between urticaria and hay fever was 0.45 (0.01–0.89, P=0.040. Conclusions. Susceptibility to urticaria is partly determined by genetic factors. Urticaria is more common in women, and in subjects with hay fever and atopic dermatitis, and shares genetic variance with hay fever.

  17. Epigenetic differences arise during the lifetime of monozygotic twins

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    Fraga, Mario F.; Ballestar, Esteban; Paz, Maria F.; Ropero, Santiago; Setien, Fernando; Ballestar, Maria L.; Heine-Suñer, Damia; Cigudosa, Juan C.; Urioste, Miguel; Benitez, Javier; Boix-Chornet, Manuel; Sanchez-Aguilera, Abel; Ling, Charlotte; Carlsson, Emma; Poulsen, Pernille; Vaag, Allan; Stephan, Zarko; Spector, Tim D.; Wu, Yue-Zhong; Plass, Christoph; Esteller, Manel

    2005-01-01

    Monozygous twins share a common genotype. However, most monozygotic twin pairs are not identical; several types of phenotypic discordance may be observed, such as differences in susceptibilities to disease and a wide range of anthropomorphic features. There are several possible explanations for these observations, but one is the existence of epigenetic differences. To address this issue, we examined the global and locus-specific differences in DNA methylation and histone acetylation of a large cohort of monozygotic twins. We found that, although twins are epigenetically indistinguishable during the early years of life, older monozygous twins exhibited remarkable differences in their overall content and genomic distribution of 5-methylcytosine DNA and histone acetylation, affecting their gene-expression portrait. These findings indicate how an appreciation of epigenetics is missing from our understanding of how different phenotypes can be originated from the same genotype. PMID:16009939

  18. Concordance of ulcerative colitis in monozygotic twin sisters

    Institute of Scientific and Technical Information of China (English)

    Madoka Horiya; Masatomo Mori; Satoru Kakizaki; Katsunobu Teshigawara; Yuki Kikuchi; Tetsu Hashida; Yoshio Tomizawa; Tomohiro Iida; Takashige Masuo; Hitoshi Takagi

    2005-01-01

    The etiology of inflammatory bowel disease is multifacto rial and appears to combine both genetic and environmental factors. We experienced here a rare occurrence of woman monozygotic twins with ulcerative colitis (UC). A 45-year-old woman (the elder monozygotic twin) was admitted to our hospital because of bloody diarrhea occurring over 10 times per day, abdominal pain and fever. She was diagnosed as UC at the age of 22, and repeated the relapse and remission. She was diagnosed as relapse of UC and total colitis type. Her younger monozygotic twin sister also suffered from UC at the age of 22. Human leukocyte antigen was examined serologically with DNA type in both patients. DRB1*1502, which was previously shown to be dominant in Japanese patients with UC, was not observed in this case. Although the concordance in monozygotic twin in UC is reported to be 6.3-18.8%, the concordant case like this is relatively rare. We report this rare case of UC and the previously reported cases are also discussed.

  19. Microbiota conservation and BMI signatures in adult monozygotic twins

    NARCIS (Netherlands)

    Tims, S.; Derom, C.; Jonkers, D.M.A.E.; Vlietinck, R.; Saris, W.H.; Kleerebezem, M.; Vos, de W.M.; Zoetendal, E.G.

    2013-01-01

    The human gastrointestinal (GI) tract microbiota acts like a virtual organ and is suggested to be of great importance in human energy balance and weight control. This study included 40 monozygotic (MZ) twin pairs to investigate the influence of the human genotype on GI microbiota structure as well a

  20. Monozygotic Triplets and Dizygotic Twins following Transfer of Three Poor-Quality Cleavage Stage Embryos

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    Reshef Tal

    2012-01-01

    Full Text Available Background. Assisted reproductive technology has been linked to the increased incidence of monozygotic twinning. It is of clinical importance due to the increased risk of complications in multiple pregnancies in general and in monozygotic twins in particular. Case. A 29-year-old female, nulligravida underwent her first IVF cycle. Three poor-quality cleavage stage embryos were transferred resulting in monochorionic triamniotic triplets and dichorionic diamniotic twins. Selective embryo reduction was performed at 12 weeks leaving dichorionic twins. The patient underwent emergency cesarean section due to preterm labor and nonreassuring fetal heart tracing at 30 weeks of gestation. Conclusion. Our case emphasizes that even embryos with significant morphological abnormalities should be considered viable and the possibility of simultaneous spontaneous embryo splitting must be factored into determining number of embryos to transfer.

  1. Discordant sex in monozygotic XXY/XX twins: a case report.

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    Tachon, G; Lefort, G; Puechberty, J; Schneider, A; Jeandel, C; Boulot, P; Prodhomme, O; Meyer, P; Taviaux, S; Touitou, I; Pellestor, F; Geneviève, D; Gatinois, V

    2014-12-01

    We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive and comprehension delay, behavioural and language disorders, all symptoms frequently reported in Klinefelter syndrome. Molecular zygosity analysis with several markers confirmed that the twins are in effect monozygotic (MZ). Array comparative genomic hybridization found no evidence for the implication of copy number variation in the phenotypes. Ultrasound scans of the reproductive organs revealed no abnormalities. Endocrine tests showed a low testosterone level in Twin 1 (male phenotype) and a low gonadotrophin level in Twin 2 (female phenotype) which, combined with the results from ultrasound examination, provided useful information for potentially predicting the future fertility potential of the twins. Blood karyotypes revealed the presence of a normal 46,XX cell line and an aneuploïd 47,XXY cell line in both patients. Examination of the chromosome constitutions of various tissues such as blood, buccal smear and urinary sediment not surprisingly showed different proportions for the 46,XX and 47,XXY cell lines, which most likely explains the discordant phenotypic sex and mild Klinefelter features. The most plausible underlying biological mechanism is a post-zygotic loss of the Y chromosome in an initially 47,XXY zygote. This would result in an embryo with both 46,XX and 47,XXY cells lines which could subsequently divide into two monozygotic embryos through a twinning process. The two cell lines would then be distributed differently between tissues which could result in phenotypic discordances in the twins. These observations emphasize the importance of regular paediatric evaluations to determine the optimal timing for fertility preservation measures and to detect new Klinefelter features which could appear throughout childhood in the two subjects.

  2. Sex ratios provide evidence for monozygotic twinning in the ring-tailed lemur, Lemur catta.

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    St Clair, John; Campbell-Palmer, Roisin; Lathe, Richard

    2014-02-01

    Monozygotic (MZ) twinning is generally considered to be rare in species other than human. We inspected sex ratios in European zoo-bred ring-tailed lemurs (Lemur catta), revealing a significant excess of same-sex twins. Of 94 pairs, 60 (64%) were either both males or both females (p = .004). Application of the Weinberg differential rule argues that 27% of all twins in this species are MZ pairs. In this protected species, where twinning is commonplace (~50% of newborns are twins), the probable existence of frequent MZ twinning has ramifications for breeding programs aimed to maximize genetic diversity, and suggests that twin studies in a species other than human could have potential as a medical research tool.

  3. Methylomic analysis of monozygotic twins discordant for childhood psychotic symptoms

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    Fisher, Helen L; Murphy, Therese M; Arseneault, Louise; Caspi, Avshalom; Moffitt, Terrie E; Viana, Joana; Hannon, Eilis; Pidsley, Ruth; Burrage, Joe; Dempster, Emma L; Wong, Chloe C Y; Pariante, Carmine M; Mill, Jonathan

    2015-01-01

    Childhood psychotic symptoms are associated with increased rates of schizophrenia, other psychiatric disorders, and suicide attempts in adulthood; thus, elucidating early risk indicators is crucial to target prevention efforts. There is considerable discordance for psychotic symptoms between monozygotic twins, indicating that child-specific non-genetic factors must be involved. Epigenetic processes may constitute one of these factors and have not yet been investigated in relation to childhood psychotic symptoms. Therefore, this study explored whether differences in DNA methylation at age 10 were associated with monozygotic twin discordance for psychotic symptoms at age 12. The Environmental Risk (E-Risk) Longitudinal Twin Study cohort of 2,232 children (1,116 twin pairs) was assessed for age-12 psychotic symptoms and 24 monozygotic twin pairs discordant for symptoms were identified for methylomic comparison. Children provided buccal samples at ages 5 and 10. DNA was bisulfite modified and DNA methylation was quantified using the Infinium HumanMethylation450 array. Differentially methylated positions (DMPs) associated with psychotic symptoms were subsequently tested in post-mortem prefrontal cortex tissue from adult schizophrenia patients and age-matched controls. Site-specific DNA methylation differences were observed at age 10 between monozygotic twins discordant for age-12 psychotic symptoms. Similar DMPs were not found at age 5. The top-ranked psychosis-associated DMP (cg23933044), located in the promoter of the C5ORF42 gene, was also hypomethylated in post-mortem prefrontal cortex brain tissue from schizophrenia patients compared to unaffected controls. These data tentatively suggest that epigenetic variation in peripheral tissue is associated with childhood psychotic symptoms and may indicate susceptibility to schizophrenia and other mental health problems. PMID:26479702

  4. HIV-1 infected monozygotic twins: a tale of two outcomes

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    Pérez-Losada Marcos

    2011-03-01

    Full Text Available Abstract Background Replicate experiments are often difficult to find in evolutionary biology, as this field is inherently an historical science. However, viruses, bacteria and phages provide opportunities to study evolution in both natural and experimental contexts, due to their accelerated rates of evolution and short generation times. Here we investigate HIV-1 evolution by using a natural model represented by monozygotic twins infected synchronically at birth with an HIV-1 population from a shared blood transfusion source. We explore the evolutionary processes and population dynamics that shape viral diversity of HIV in these monozygotic twins. Results Despite the identical host genetic backdrop of monozygotic twins and the identical source and timing of the HIV-1 inoculation, the resulting HIV populations differed in genetic diversity, growth rate, recombination rate, and selection pressure between the two infected twins. Conclusions Our study shows that the outcome of evolution is strikingly different between these two "replicates" of viral evolution. Given the identical starting points at infection, our results support the impact of random epigenetic selection in early infection dynamics. Our data also emphasize the need for a better understanding of the impact of host-virus interactions in viral evolution.

  5. Family study of monozygotic twins affected by pemphigus vulgaris.

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    Salathiel, Adriana Martinelli; Brochado, Maria José Franco; Kim, Olivia; Deghaide, Neifi Hassan Saloum; Donadi, Eduardo Antonio; Roselino, Ana Maria

    2016-07-01

    Rare are the family studies that include siblings affected by pemphigus vulgaris (PV) and in whom HLA class II alleles are related. HLA-DR and -DQ genotyping and profiling of antibodies against desmogleins (Dsg) 1 and Dsg3 were performed in ten members of a family including monozygotic twins affected by PV. The twin sisters were heterozygotes; they presented the haplotypes most commonly associated with increased susceptibility to PV (DRB1∗04:02-DQA1∗03:01-DQB1∗03:02 and DRB1∗14:04-DQA1∗01:01-DQB1∗05:03). Their parents and five siblings had only one or none of these two haplotypes in combination with the alleles or haplotypes associated with resistance to PV (DRB1∗07:01-DQA1∗02:01-DQB1∗02:02 and DRB1∗13:01-DQA1∗01:03-DQB1∗06:03). Only the monozygotic twins presented IgG antibodies against both Dsg1 and Dsg3. According to our knowledge based on a review of published literature on the topic, this is the first report of PV affecting monozygotic twins.

  6. Phenotypic extremes in liveborn monozygotic twins with mosaic Edwards syndrome.

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    Bussmann, Neidin; Cunningham, Katie; Green, Andrew; Ryan, C Anthony

    2015-11-11

    Mosaic trisomy 18 (Edwards syndrome) in monozygotic diamniotic liveborn twins is rare. We describe such a case involving preterm male infants. Although both infants had a low percentage of trisomy 18 cells in peripheral blood leucocytes, their varied phenotypic presentation of mosaic trisomy 18 resulted in one twin surviving, with the other twin's demise at 1 month of age. Despite the presence of trisomy 18 in peripheral leucocytes, further analysis of a buccal smear and skin biopsy of the surviving twin did not show evidence of trisomy 18. Establishing such diagnoses in a timely manner is imperative for the child, parents and clinicians. The clinical course of these twins reflects the unpredictable prognosis associated with the diagnosis of mosaic trisomy 18, and emphasises the challenges that can be encountered when counselling parents.

  7. Urticaria in monozygotic and dizygotic twins

    DEFF Research Database (Denmark)

    Thomsen, Simon Francis; van der Sluis, Sophie; Kyvik, Kirsten Ohm

    2012-01-01

    Aim. To identify risk factors for urticaria, to determine the relative proportion of the susceptibility to urticaria that is due to genetic factors in an adult clinical twin sample, and to further determine whether the genetic susceptibility to urticaria overlaps with the genetic susceptibility...... to atopic diseases. Methods. A total of 256 complete twin pairs and 63 single twins, who were selected from sibships with self-reported asthma via a questionnaire survey of 21,162 adult twins from the Danish Twin Registry, were clinically interviewed about a history of urticaria and examined for atopic.......36-2.72), P = 0.000; and atopic dermatitis, HR = 1.44 (1.02-2.06), P = 0.041 were significant risk factors for urticaria. After adjustment for sex and age at onset of urticaria in the index twin, the risk of urticaria was increased in MZ cotwins relative to DZ cotwins, HR = 1.42 (0.63-3.18), P = 0...

  8. Bilateral Mesiodens in Monozygotic Twins: 3D Diagnostic and Management.

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    Vecchione Gurgel, Carla; Soares Cota, Ana Lídia; Yuriko Kobayashi, Tatiana; Moura Bonifácio Silva, Salete; Aparecida Andrade Moreira Machado, Maria; Rios, Daniela; Garib, Daniela Gamba; Marchini Oliveira, Thais

    2013-01-01

    Mesiodens is the most frequent type of supernumerary tooth and may occur in several forms, causing different local disorders, such as impaction of the anterior permanent teeth. High-resolution three-dimensional (3D) images have improved the diagnosis and treatment plan of patients with impacted and supernumerary teeth. The purpose of this paper was to report a case of two mesiodens in monozygotic twin boys with appropriate 3D diagnostic and treatment plan.

  9. Bilateral Mesiodens in Monozygotic Twins: 3D Diagnostic and Management

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    Carla Vecchione Gurgel

    2013-01-01

    Full Text Available Mesiodens is the most frequent type of supernumerary tooth and may occur in several forms, causing different local disorders, such as impaction of the anterior permanent teeth. High-resolution three-dimensional (3D images have improved the diagnosis and treatment plan of patients with impacted and supernumerary teeth. The purpose of this paper was to report a case of two mesiodens in monozygotic twin boys with appropriate 3D diagnostic and treatment plan.

  10. Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex.

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    Costa, T; Lambert, M; Teshima, I; Ray, P N; Richer, C L; Dallaire, L

    1998-01-06

    We report on two sets of monozygotic twins (MZTs) discordant for phenotypic sex ascertained at birth when the female twin was noted to have signs of the Ullrich-Turner syndrome. Cytogenetic investigations on the female of the first pair showed 45,X/46,XY mosaicism in lymphocytes but fibroblasts grown from two skin biopsies at separate sites and from gonadal tissue showed only 45,X cells. The male showed mosaicism in both blood lymphocytes and skin fibroblasts. In the second family, both twins also showed mosaicism in lymphocytes. The female had a 45,X karyotype in fibroblasts from skin and gonadal tissue, but in contrast to the first family, the male twin had a normal male karyotype in fibroblasts from skin biopsy and from connective tissue adjacent to the vas deferens. Discordant phenotypic sex in monozygotic twins is rare. As in our cases, the nine previously reported sets of MZTs all had mosaicism for sex chromosome abnormalities. A mitotic error leading to the loss of a Y chromosome prior to, accompanying, or following the twinning process would account for the reported combinations of karyotypes.

  11. Bidirectional Influences between Maternal Parenting and Children's Peer Problems: A Longitudinal Monozygotic Twin Difference Study

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    Yamagata, Shinji; Takahashi, Yusuke; Ozaki, Koken; Fujisawa, Keiko K.; Nonaka, Koichi; Ando, Juko

    2013-01-01

    This twin study examined the bidirectional relationship between maternal parenting behaviors and children's peer problems that were not confounded by genetic and family environmental factors. Mothers of 259 monozygotic twin pairs reported parenting behaviors and peer problems when twins were 42 and 48 months. Path analyses on monozygotic twin…

  12. Monozygotic twinning after assisted reproductive technologies: a case report of asymmetric development and incidence during 19 years in an international group of in vitro fertilization clinics.

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    Tocino, Antonia; Blasco, Víctor; Prados, Nicolás; Vargas, Manuel J; Requena, Antonio; Pellicer, Antonio; Fernández-Sánchez, Manuel

    2015-05-01

    To describe a case of monozygotic twinning with asymmetric development following a single fresh embryo transfer as part of an intracytoplasmic sperm injection (ICSI) treatment. Secondarily, to report the incidence of monozygotic twinning at the IVI (Instituto Valenciano de Infertilidad) clinics. Case report. Private fertility centers. A 33-year-old woman with a 2-year history of primary infertility. Controlled ovarian hyperstimulation and ICSI treatment with single-embryo transfer. Incidence of monozygotic twinning at the IVI clinics. We report a twin pregnancy after a single-embryo transfer. Twins were dichorionic and diamniotic. One fetus had a 6-day delay in its growth compared with the other when observed by ultrasound. Two female infants were delivered, and despite presenting congenital diseases, they were successfully treated and evolved correctly. A subsequent DNA analysis confirmed that the infants were monozygotic. Furthermore, we estimated a monozygotic twinning rate of 1.17% at the IVI clinics, taking into account those cases in which two or more embryos with heart beats were observed by ultrasound scanning after single-embryo transfers. Ultrasound scans performed during pregnancy suggested a possible dizygotic origin of the twins, but DNA analysis performed after birth established that they were monozygotic. Genetic analysis is the only valid tool to confirm if like-sex dichorionic twins are monozygotic or dizygotic. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  13. Synesthesia in twins: incomplete concordance in monozygotes suggests extragenic factors.

    Science.gov (United States)

    Bosley, Hannah G; Eagleman, David M

    2015-06-01

    Colored-sequence synesthesia (CSS) is a neurological condition in which sequential stimuli such as letters, numbers, or days of the week trigger simultaneous, involuntary color perception. Although the condition appears to run in families and several studies have sought a genetic link, the genetic contribution to synesthesia remains unclear. We conducted the first comparative twin study of CSS and found that CSS has a pairwise concordance of 73.9% in monozygotic twins, and a pairwise concordance of 36.4% in dizygotic twins. In line with previous studies, our results suggest a heritable element of synesthesia. However, consonant with the findings of previous single-pair case studies, our large sample size verifies that synesthesia is not completely conferred by genetics; if it were, monozygotic twins should have 100% concordance. These findings implicate a genetic mechanism of CSS that may work differently than previously thought: collectively, our data suggest that synesthesia is a heritable condition with incomplete penetrance that is substantially influenced by epigenetic and environmental factors. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. Monozygotic twin differences in non-shared environmental factors associated with chronotype.

    Science.gov (United States)

    Barclay, Nicola L; Eley, Thalia C; Parsons, Michael J; Willis, Thomas A; Gregory, Alice M

    2013-02-01

    Twin studies have highlighted that a large proportion of variability in chronotype is accounted for by individual-specific environmental factors (non-shared environmental influences). However, little research has aimed to identify specific non-shared environmental influences on chronotype. Although epidemiological studies have shed light on possible environmental influences on chronotype, a substantial amount of research has highlighted the importance of genetic influences on exposure toward specific environments, a process termed gene-environment correlation. It is possible that associations between the environment and chronotype are in part determined by genetics, rather than being purely environmental in origin. One way of exploring the contribution of purely non-shared environmental components on associations between chronotype and the environment is to use the monozygotic twin differences design. This design allows us to tease apart the influences of genetics and the environment to identify purely environmental components. One hundred eighty-nine monozygotic twin pairs (mean age 19.81 years, SD = 1.26, range = 18-22 years, 66.1% female) completed the Horne and Östberg Morningness-Eveningness Questionnaire as a measure of chronotype and questionnaires assessing the following candidate non-shared environmental influences: dependent and independent negative life events, educational attainment, employment status, relationship status, deviant peers, affiliation with deviant peers, general health, smoking, drug use, and alcohol use. Linear regression analyses indicated the presence of gene-environment correlation for the majority of associations between chronotype and candidate environmental influences. When controlling for genetic and shared environmental effects, within monozygotic twin-pair differences in chronotype were associated with within monozygotic twin-pair differences in dependent negative life events (β = -0.27, p environmental in nature. The

  15. [Refsum syndrome in a pair of monozygotic twins].

    Science.gov (United States)

    Kohnen, S; Hammerstein, W

    1993-10-01

    We report the case of a pair of twins with the ophthalmological and functional findings of Refsum syndrome. The twins were monozygotic twin brothers whose ophthalmological symptoms were noticed when they were in their forties. The diagnosis in the first brother led to a search for findings in the second. It was possible to attribute the non-specific subjective complaints to this as yet unknown syndrome. No causal therapy can be offered the patients. However, knowledge of the biochemical basis of the disease makes it possible to treat it by means of diet. In patients with retinopathia pigmentosa, an attempt should be made to identify Refsum syndrome if neurological symptoms are found in addition.

  16. Gender identity disorder and anorexia nervosa in male monozygotic twins.

    Science.gov (United States)

    Hepp, Urs; Milos, Gabriella; Braun-Scharm, Hellmuth

    2004-03-01

    Male identical twins with gender identity disorder (GID) in childhood and anorexia nervosa (AN) are presented. Etiologic aspects and the relationship among gender identity, sexual orientation, body dissatisfaction, and AN are discussed. Case reports and a review of the literature are reported. In childhood, both twins showed an atypical gender behavior. Whereas one of the twins later developed a transsexual gender identity and asked for sex reassignment, the other developed a male identity but his appearance and clothing are effeminate. According to their biologic sex, they are concordant in regard to their homosexual orientation. In adolescence, both developed AN. Monozygotism was proved by DNA analysis. GID in childhood could be at least partly hereditary, whereas the development of the later phenotype of the gender identification is more determined by environmental factors. GID might be a risk factor for the development of AN. Copyright 2004 by Wiley Periodicals, Inc. Int J Eat Disord 35: 239-243, 2004.

  17. Microbiota conservation and BMI signatures in adult monozygotic twins.

    Science.gov (United States)

    Tims, Sebastian; Derom, Catherine; Jonkers, Daisy M; Vlietinck, Robert; Saris, Wim H; Kleerebezem, Michiel; de Vos, Willem M; Zoetendal, Erwin G

    2013-04-01

    The human gastrointestinal (GI) tract microbiota acts like a virtual organ and is suggested to be of great importance in human energy balance and weight control. This study included 40 monozygotic (MZ) twin pairs to investigate the influence of the human genotype on GI microbiota structure as well as microbial signatures for differences in body mass index (BMI). Phylogenetic microarraying based on 16S rRNA genes demonstrated that MZ twins have more similar microbiotas compared with unrelated subjects (Ptwins. Half of the twin pairs were selected on discordance in terms of BMI, which revealed an inverse correlation between Clostridium cluster IV diversity and BMI. Furthermore, relatives of Eubacterium ventriosum and Roseburia intestinalis were positively correlated to BMI differences, and relatives of Oscillospira guillermondii were negatively correlated to BMI differences. Lower BMI was associated with a more abundant network of primary fiber degraders, while a network of butyrate producers was more prominent in subjects with higher BMI. Combined with higher butyrate and valerate contents in the fecal matter of higher BMI subjects, the difference in microbial networks suggests a shift in fermentation patterns at the end of the colon, which could affect human energy homeostasis.

  18. A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol

    DEFF Research Database (Denmark)

    Surakka, Ida; Whitfield, John B; Perola, Markus

    2012-01-01

    in serum lipid and apolipoprotein levels. We report data for 1,720 monozygotic female twin-pairs from GenomEUtwin project with 2.5 million SNPs, imputed or genotyped, and measured serum lipid fractions for both twins. We found one locus associated with intra-pair differences in high-density lipoprotein...

  19. Quantitative ultrasound of the hand phalanges in a cohort of monozygotic twins: influence of genetic and environmental factors

    Energy Technology Data Exchange (ETDEWEB)

    Guglielmi, G. [Scientific Institute Hospital, Department of Radiology, San Giovanni Rotondo (Italy); Terlizzi, F. de [IGEA Biophysics Lab, Carpi (Italy); Torrente, I.; Mingarelli, R. [Mendel Institute, Rome (Italy); Dallapiccola, B. [Scientific Institute Hospital, Department of Radiology, San Giovanni Rotondo (Italy); Mendel Institute, Rome (Italy)

    2005-11-01

    Our objective was to evaluate the similarities and differences in bone mass and structure between pairs of monozygotic twins as measured by means of the quantitative ultrasound (QUS) technique. A cohort of monozygotic twins was measured by QUS of the hand phalanges using the DBM sonic bone profiler (IGEA, Carpi, Italy). The parameters studied were amplitude-dependent speed of sound (AD-SoS), ultrasound bone profile index (UBPI), signal dynamics (SDy) and bone transmission time (BTT). Linear correlation coefficients, multivariate linear analysis and the ANOVA test were used to assess intrapair associations between variables and to determine which factors influence the intrapair differences in QUS variables. One hundred and six pairs of monozygotic twins were enrolled in the study, 68 females and 38 males in the age range 5 to 71 years. Significant intrapair correlations were obtained in the whole population and separately for males and females, regarding height (r =0.98-0.99, p <0.0001), weight (r =0.95-0.96, p <0.0001), AD-SoS (r =0.90-0.92, p <0.0001), BTT (r =0.94-0.95, p <0.0001) and other QUS parameters (r >0.74, p <0.0001). Multivariate analysis revealed that intrapair differences between AD-SoS, SDy, UBPI and BTT are significantly influenced by age in the whole population and in the female population. Furthermore, the ANOVA test showed, for the female group, a significant increase in the intrapair differences in SDy and UBPI above 40 years. A relative contribution of genetic factors to skeletal status could be observed by phalangeal QUS measurement in monozygotic twins. A significant increase in the intrapair difference in QUS parameters with increasing age and onset of menopause also suggests the importance of environmental factors in the female twin population. (orig.)

  20. What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration

    NARCIS (Netherlands)

    Ketelaar, M. E.; Hofstra, R. M. W.; Hayden, M. R.

    2012-01-01

    As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins has been used in genetic research to understand the contribution of genetic vs environmental factors in disease development. However, recent studies show that MZ twins can differ bo

  1. A Monozygotic Twin Difference Study of Friends' Aggression and Children's Adjustment Problems

    Science.gov (United States)

    Vitaro, Frank; Brendgen, Mara; Boivin, Michel; Cantin, Stephane; Dionne, Ginette; Tremblay, Richard E.; Girard, Alain; Perusse, Daniel

    2011-01-01

    This study used the monozygotic (MZ) twin difference method to examine whether differences in friends' aggression increased the differences in MZ twins' aggression and depressive symptoms from kindergarten to Grade 1 and whether perceived victimization by the friend played a mediating role in this context. Participants were 223 MZ twin pairs.…

  2. Motor Disorder and Anxious and Depressive Symptomatology: A Monozygotic Co-Twin Control Approach

    Science.gov (United States)

    Pearsall-Jones, Jillian G.; Piek, Jan P.; Rigoli, Daniela; Martin, Neilson C.; Levy, Florence

    2011-01-01

    The aim of this study was to investigate the relationship between poor motor ability and anxious and depressive symptomatology in child and adolescent monozygotic twins. The co-twin control design was used to explore these mental health issues in MZ twins concordant and discordant for a motor disorder, and controls. This methodology offers the…

  3. Motor Disorder and Anxious and Depressive Symptomatology: A Monozygotic Co-Twin Control Approach

    Science.gov (United States)

    Pearsall-Jones, Jillian G.; Piek, Jan P.; Rigoli, Daniela; Martin, Neilson C.; Levy, Florence

    2011-01-01

    The aim of this study was to investigate the relationship between poor motor ability and anxious and depressive symptomatology in child and adolescent monozygotic twins. The co-twin control design was used to explore these mental health issues in MZ twins concordant and discordant for a motor disorder, and controls. This methodology offers the…

  4. Causal direction between respiratory syncytial virus bronchiolitis and asthma studied in monozygotic twins

    DEFF Research Database (Denmark)

    Poorisrisak, Porntiva; Halkjaer, Liselotte Brydensholt; Thomsen, Simon Francis

    2010-01-01

    Respiratory syncytial virus (RSV) bronchiolitis has been associated with later development of asthma, wheezing, abnormal pulmonary function, and sensitization. Our aim was to determine the differential effect within monozygotic (MZ) twin pairs discordant for severe RSV bronchiolitis in infancy...

  5. Langerhans cell histiocytosis in monozygotic twins with central diabetes insipidus and hypophyseal masses

    Science.gov (United States)

    Wei, Sung-Tai; Chen, Der-Cherng; Cho, Der-Yang; Lin, Hung-Lin

    2015-01-01

    Langerhans cell histiocytosis (LCH) is a systemic disease mainly affecting children and young adults. It can manifest as single system disorder or multi-system involvement. When the central nervous system is involved, the hypothalamic–pituitary axis is the most common location affected. Herein we report a rare case of Langerhans cell histiocytosis in monozygotic twins both with central diabetes and hypophyseal masses. This is the first report about LCH in monozygotic twins with hypophyseal lesions. PMID:25972939

  6. Achondroplasia in female twins: surgical indications.

    Science.gov (United States)

    Albisetti, Walter; Pedretti, Leopoldo; De Bartolomeo, Omar; Verdoni, Fabio; Memeo, Antonio

    2011-03-01

    Although in literature achondroplasia has been described profusely, reports on achondroplastic twins are limited. We present two cases of monozygotic female twins with achondroplasia, who underwent limb-lengthening surgical procedure with external fixation in the following five steps: tibia, femur, tibia; femur, homer. Both the cases presented a good limb length and an optimal correction of associated deformities after the treatment, fulfilling the indications. Surgical indications were mostly led by the axial deviations of the lower limbs, and the timing of the limb-lengthening procedures has been the same in both couples showing the importance of this aspect.

  7. Learning and memory in monozygotic twins discordant for schizophrenia.

    Science.gov (United States)

    Goldberg, T E; Torrey, E F; Gold, J M; Ragland, J D; Bigelow, L B; Weinberger, D R

    1993-02-01

    Learning and memory were assessed in 24 monozygotic (MZ) pairs of individuals discordant for schizophrenia or delusional disorder and seven normal pairs of MZ twins. On declarative memory tasks, the affected group displayed a pattern that might best be characterized as dysmnesic in that they performed significantly worse than the discordant unaffected group on story recall, paired associated learning, and visual recall of designs, but they learned over time, had relatively preserved recognition memory, and did not show profoundly accelerated rates of forgetting. Effortful, volitional retrieval from the lexicon, measured by verbal fluency, was also compromised in the affected group. On the other hand, procedural learning of the motor skill in a pursuit rotor task was relatively intact in the affected group. Comparisons of the normal group and unaffected group indicated that the latter group had very mild impairments in some aspects of episodic memory, namely, immediate and delayed recall of stories and delayed recall of designs. It is highly unlikely that the impairments observed in the affected group can be attributed to differences in genome, family environment, socioeconomic circumstance, or educational opportunity, as all of these were controlled by the twin paradigm. Rather, the impairments appear to be related to the intercession of disease. The neuropsychological profile is consistent with frontal lobe and medial temporal lobe dysfunction, as noted in this sample as well as other samples of schizophrenic singletons. Significant correlations between many measures of memory and global level of social and vocational functioning within the discordant group were also found. Thus difficulties in rapidly acquiring new information and propitiously retrieving old information may burden patients with schizophrenia in many of the transactions of everyday life.

  8. Search for Genomic Alterations in Monozygotic Twins Discordant for Cleft Lip and/or Palate

    DEFF Research Database (Denmark)

    Kimani, Jane W; Yoshiura, Koh-Ichiro; Shi, Min

    2009-01-01

    consisting of 1,536 SNPs, to scan for genomic alterations in a sample of monozygotic twin pairs with discordant cleft lip and/or palate phenotypes. Paired analysis for deletions, amplifications and loss of heterozygosity, along with sequence verification of SNPs with discordant genotype calls did not reveal...... any genomic discordance between twin pairs in lymphocyte DNA samples. Our results demonstrate that postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate. However, rare or balanced genomic alterations, tissue-specific events...

  9. Copy number variation distribution in six monozygotic twin pairs discordant for schizophrenia.

    Science.gov (United States)

    Castellani, Christina A; Awamleh, Zain; Melka, Melkaye G; O'Reilly, Richard L; Singh, Shiva M

    2014-04-01

    We have evaluated copy number variants (CNVs) in six monozygotic twin pairs discordant for schizophrenia. The data from Affymetrix® Human SNP 6.0 arrays™ were analyzed using Affymetrix® Genotyping Console™, Partek® Genomics Suite™, PennCNV, and Golden Helix SVS™. This yielded both program-specific and overlapping results. Only CNVs called by Affymetrix Genotyping Console, Partek Genomics Suite, and PennCNV were used in further analysis. This analysis included an assessment of calls in each of the six twin pairs towards identification of unique CNVs in affected and unaffected co-twins. Real time polymerase chain reaction (PCR) experiments confirmed one CNV loss at 7q11.21 that was found in the affected patient but not in the unaffected twin. The results identified CNVs and genes that were previously implicated in mental abnormalities in four of the six twin pairs. It included PYY (twin pairs 1 and 5), EPHA3 (twin pair 3), KIAA1211L (twin pair 4), and GPR139 (twin pair 5). They represent likely candidate genes and CNVs for the discordance of four of the six monozygotic twin pairs for this heterogeneous neurodevelopmental disorder. An explanation for these differences is ontogenetic de novo events that differentiate in the monozygotic twins during development.

  10. Rare case of monozygotic twins diagnosed with klinefelter syndrome during evaluation for infertility.

    Science.gov (United States)

    Barazani, Yagil; Sabanegh, Edmund

    2015-01-01

    Although neither Klinefelter syndrome nor monozygotic twins are particularly rare (1/667 male births and 3-4/1000 live births, respectively), the occurrence of both in the same pregnancy (ie, identical twins with Klinefelter syndrome) is exceedingly rare and has only been reported three times previously in the literature. This report describes the fourth ever reported case of monozygotic twins with Klinefelter syndrome (who presented to our male fertility clinic with failure to conceive) and sheds interesting light on the reproductive concordance observed with this rare clinical entity. To our knowledge, this is the first reported case of monozygotic twins with Klinefelter syndrome that describes the infertility workup and outcomes of microsurgical testicular sperm extraction.

  11. Monozygotic male twins concordant for Beckwith-Wiedemann syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Clemens, M.; McPherson, E.; Sherer, C. [West Penn Hospital, Pittsburgh, PA (United States)]|[Ludwig Institute for Cancer Reseach, LaJolla, CA (United States)] [and others

    1994-09-01

    The Beckwith-Wiedemann syndrome (BWS) is a multiple congenital anomaly syndrome characterized by macrosomia, macro glossia, visceromegaly, characteristic facies, and in some cases omphalocele, hypoglycemia, hemihypertrophy, and risk of embryonal tumors. Most cases occur sporadically in chromosomally normal individuals, but a few BWS patients have anomalies of 11p and others have evidence of microduplications or paternal isodisomy in this region. In some families with autosomal dominant transmission, BWS maps to 11p15.5, but the mechanism of transmission is not fully understood. BWS has been reported in 11 sets of MZ twins, including 10 female pairs (9 discordant and 1 partially concordant) and one male pair concordant for both BWS & dup 15q11.2-q13. We report a pair of premature male MZ twins with macroglossia, postnatal overgrowth, characteristic BWS facies, and mild developmental delay. One twin had hypoglycemia, but neither had omphalocele or hemihypertrophy and serial abdominal ultrasounds have been normal. DNA fingerprinting confirmed monozygosity. Chromosome studies showed a marker 11p14.2 in one twin only, and molecular genetic studies of the 11p15.5 region showed no evidence of duplication or isodisomy in either twin.

  12. Gray and white matter volume abnormalities in monozygotic and same-gender dizygotic twins discordant for schizophrenia

    DEFF Research Database (Denmark)

    Hilshoff, Hilleke E.; Brans, Rachel G. H.; van Haren, Neeltje E. M.

    2004-01-01

    in gray or white matter volume change is not known. METHODS: Magnetic resonance imaging (1.5 T) brain scans of 11 monozygotic and 11 same-gender dizygotic twin pairs discordant for schizophrenia were acquired and compared with 11 monozygotic and 11 same-gender dizygotic healthy control twin pairs. RESULTS...... in the monozygotic twin pairs. A decrease in gray matter was found in the patients compared with their co-twins and compared with the healthy twins. CONCLUSIONS: The results suggest that the decreases in white matter volume reflect the increased genetic risk to develop schizophrenia, whereas the decreases in gray...

  13. Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size

    Directory of Open Access Journals (Sweden)

    Halder Ashutosh

    2012-03-01

    Full Text Available Abstract We report on a pair of male monozygotic twins with 22q11.2 microdeletion, discordant phenotype and discordant deletion size. The second twin had findings suggestive of DiGeorge syndrome, while the first twin had milder anomalies without any cardiac malformation. The second twin had presented with intractable convulsion, cyanosis and cardiovascular failure in the fourth week of life and expired on the sixth week of life, whereas the first twin had some characteristic facial appearance with developmental delay but no other signs of the 22q11.2 microdeletion syndrome including cardiovascular malformation. The fluorescence in situ hybridization (FISH analysis had shown a microdeletion on the chromosome 22q11.2 in both twins. The interphase FISH did not find any evidence for the mosaicism. The genomic DNA microarray analysis, using HumanCytoSNP-12 BeadChip (Illumina, was identical between the twins except different size of deletion of 22q11.2. The zygosity using HumanCytoSNP-12 BeadChip (Illumina microarray analysis suggested monozygosity. This observation indicates that altered size of the deletion may be the underlying etiology for the discordance in phenotype in monozygotic twins. We think early post zygotic events (mitotic non-allelic homologous recombination could have been played a role in the alteration of 22q11.2 deletion size and, thus phenotypic variability in the monozygotic twins.

  14. Genome-wide analysis of DNA methylation differences in muscle and fat from monozygotic twins discordant for type 2 diabetes

    DEFF Research Database (Denmark)

    Ribel-Madsen, Rasmus; Fraga, Mario F; Jacobsen, Stine

    2012-01-01

    Monozygotic twins discordant for type 2 diabetes constitute an ideal model to study environmental contributions to type 2 diabetic traits. We aimed to examine whether global DNA methylation differences exist in major glucose metabolic tissues from these twins.......Monozygotic twins discordant for type 2 diabetes constitute an ideal model to study environmental contributions to type 2 diabetic traits. We aimed to examine whether global DNA methylation differences exist in major glucose metabolic tissues from these twins....

  15. Ovarian Mature and Immature Teratomas in Monozygotic Twins: A Case Report of Simultaneous Presentation

    Science.gov (United States)

    Kawai, Naoki; Takeshita, Toshiyuki

    2017-01-01

    Mature cystic teratoma is one of the most common kinds of ovarian tumor, and immature teratoma is a rare tumor, representing less than 1% of all ovarian teratomas. Although there are some reports about familial occurrences of ovarian tumors, literature concerning the clinical cases of monozygotic twins is rare. We report the 5-year clinical courses of a 12-year-old Japanese girl with a recurrent bilateral ovarian mature teratoma and her monozygotic twin with a unilateral ovarian mature teratoma and contralateral ovarian immature teratoma. This is the first clinical report on mature and immature teratomas of the ovary in monozygotic twins. Our cases support future clarification of the molecular mechanism and pathogenesis of teratoma. PMID:28293443

  16. Labeling of Chromosomes in Cell Development and the Appearance of Monozygotic Twins

    Directory of Open Access Journals (Sweden)

    Carol Jim

    2015-01-01

    Full Text Available Understanding the mechanism behind the structure of the internal cellular clock can lead to advances in the knowledge of origins of pairs of monozygotic twins and higher order multiples as well as other biological phenomena. To gain insight into this mechanism, we analyze possible cell labeling schemes that model an organism’s development. Our findings lead us to predict that monozygotic quadruplets are not quadruplets in the traditional sense but rather two pairs of monozygotic twins where the pairs slightly differ—a situation we coin quadruplet twins. From the considered model, the probability of monozygotic twins is found to be 1/2K, and we discover that the probability of monozygotic quadruplets, or triplets as in the case of the death of an embryo, is 1/8K, where K is a species-specific integer representing the number of pairs of homologous chromosomes. The parameter K may determine cancerization with a probability threshold that is approximately inversely proportional to the Hayflick limit. Exposure to some cancerization factors such as small levels of ionizing radiation and chemical pollution may not produce cancer.

  17. Situs Inversus Totalis in Twins: A Brief Review and a Life History / Twin Research: Twin Studies of Trisomy 21; Monozygotic Twin Concordance for Bilateral Coronoid Hyperplasia; Prenatal Hormonal Effects in Mixed-Sex Non-Human Primate Litters; Insurance Mandates and Twinning After In Vitro Fertilization / News Reports: First Report of Identical Twin Puppies; Twins Sisters Turn 100; Remembering an Identical Twin Production Designer; New York City Marathon Quadruplets.

    Science.gov (United States)

    Segal, Nancy L

    2017-02-01

    The presence of situs inversus totalis (full reversal of internal organs) in twins is briefly reviewed. Information gathered from 35-year-old monozygotic (MZ) female twin pair discordant for this condition is presented. This is followed by summaries of research on the frequency of trisomy 21 (Down syndrome) in twins, the first case of MZ twin concordance for bilateral coronoid hyperplasia, prenatal hormonal effects in mixed-sex non-human primate litters, and links between insurance mandates and twinning following in vitro fertilization. The final section of this article describes twin-related events reported in the news, namely, the first recorded birth of identical twin puppies; the 100th birthday celebration of a pair of fraternal female twins, the passing of an award-winning identical twin production designer, and the first running of the New York City Marathon by a set of quadruplets.

  18. Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity.

    Directory of Open Access Journals (Sweden)

    Kirsi H Pietiläinen

    2008-03-01

    Full Text Available BACKGROUND: The acquired component of complex traits is difficult to dissect in humans. Obesity represents such a trait, in which the metabolic and molecular consequences emerge from complex interactions of genes and environment. With the substantial morbidity associated with obesity, a deeper understanding of the concurrent metabolic changes is of considerable importance. The goal of this study was to investigate this important acquired component and expose obesity-induced changes in biological pathways in an identical genetic background. METHODS AND FINDINGS: We used a special study design of "clonal controls," rare monozygotic twins discordant for obesity identified through a national registry of 2,453 young, healthy twin pairs. A total of 14 pairs were studied (eight male, six female; white, with a mean +/- standard deviation (SD age 25.8 +/- 1.4 y and a body mass index (BMI difference 5.2 +/- 1.8 kg/m(2. Sequence analyses of mitochondrial DNA (mtDNA in subcutaneous fat and peripheral leukocytes revealed no aberrant heteroplasmy between the co-twins. However, mtDNA copy number was reduced by 47% in the obese co-twin's fat. In addition, novel pathway analyses of the adipose tissue transcription profiles exposed significant down-regulation of mitochondrial branched-chain amino acid (BCAA catabolism (p < 0.0001. In line with this finding, serum levels of insulin secretion-enhancing BCAAs were increased in obese male co-twins (9% increase, p = 0.025. Lending clinical relevance to the findings, in both sexes the observed aberrations in mitochondrial amino acid metabolism pathways in fat correlated closely with liver fat accumulation, insulin resistance, and hyperinsulinemia, early aberrations of acquired obesity in these healthy young adults. CONCLUSIONS: Our findings emphasize a substantial role of mitochondrial energy- and amino acid metabolism in obesity and development of insulin resistance.

  19. Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome.

    Directory of Open Access Journals (Sweden)

    Kunio Miyake

    Full Text Available Monozygotic (identical twins have been widely used in genetic studies to determine the relative contributions of heredity and the environment in human diseases. Discordance in disease manifestation between affected monozygotic twins has been attributed to either environmental factors or different patterns of X chromosome inactivation (XCI. However, recent studies have identified genetic and epigenetic differences between monozygotic twins, thereby challenging the accepted experimental model for distinguishing the effects of nature and nurture. Here, we report the genomic and epigenomic sequences in skin fibroblasts of a discordant monozygotic twin pair with Rett syndrome, an X-linked neurodevelopmental disorder characterized by autistic features, epileptic seizures, gait ataxia and stereotypical hand movements. The twins shared the same de novo mutation in exon 4 of the MECP2 gene (G269AfsX288, which was paternal in origin and occurred during spermatogenesis. The XCI patterns in the twins did not differ in lymphocytes, skin fibroblasts, and hair cells (which originate from ectoderm as does neuronal tissue. No reproducible differences were detected between the twins in single nucleotide polymorphisms (SNPs, insertion-deletion polymorphisms (indels, or copy number variations. Differences in DNA methylation between the twins were detected in fibroblasts in the upstream regions of genes involved in brain function and skeletal tissues such as Mohawk Homeobox (MKX, Brain-type Creatine Kinase (CKB, and FYN Tyrosine Kinase Protooncogene (FYN. The level of methylation in these upstream regions was inversely correlated with the level of gene expression. Thus, differences in DNA methylation patterns likely underlie the discordance in Rett phenotypes between the twins.

  20. Timing of Colonization of Caries-Producing Bacteria: An Approach Based on Studying Monozygotic Twin Pairs

    OpenAIRE

    Bockmann, Michelle R.; Harris, Abbe V.; Bennett, Corinna N.; Ruba Odeh; Hughes, Toby E.; Townsend, Grant C

    2011-01-01

    Findings are presented from a prospective cohort study of timing of primary tooth emergence and timing of oral colonization of Streptococcus mutans (S. mutans) in Australian twins. The paper focuses on differences in colonization timing in genetically identical monozygotic (MZ) twins. Timing of tooth emergence was based on parental report. Colonization timing of S. mutans were established by plating samples of plaque and saliva on selective media at 3 monthly intervals and assessing colony mo...

  1. A nongenetic basis of cycle frequency in bipolar disorder: study of a monozygotic twin pair.

    Science.gov (United States)

    Sharma, V; Ainsworth, P J; McCabe, S B; Persad, E; Kueneman, K M

    1997-01-01

    The authors describe a pair of monozygotic twins with bipolar disorder but with a different course of the illness including age of onset, sequence of episodes, and cycle length. Based on these findings, the clinical course of bipolar illness does not appear to be genetically determined. PMID:9074308

  2. Is there a genetic basis for Fuchs' heterochromic uveitis? Discordance in monozygotic twins.

    OpenAIRE

    Jones, N. P.; Read, A P

    1992-01-01

    One pair, and probably two pairs, of monozygotic twins are reported with discordance for Fuchs' heterochromic uveitis (FHU). Regular Mendelian inheritance of this disease is now proved to be impossible. The heritability of FHU is low and may be zero. The possibility of any genetic predisposition to the disease and its association with 'simple' heterochromia are discussed.

  3. Kidney transplant from a living monozygotic twin donor with no maintenance immunosuppression.

    Science.gov (United States)

    Sánchez-Escuredo, Ana; Barajas, Alberto; Revuelta, Ignacio; Blasco, Miquel; Cofan, Federic; Esforzado, Núria; Ricart, María José; Torregrosa, Vicens; Campistol, Josep Maria; Oppenheimer, Federic; Diekmann, Fritz

    2015-01-01

    From a theoretical point of view, an alloimmune response can not take place, still some type of standard immunosuppression is used in about 60% of patients receiving kidney grafts from their monozygotic twins. We aimed at assessing clinical response in patients receiving renal grafts from a living monozygotic twin donor when no immunosuppressive therapy is used. This is a retrospective observational study of patients receiving kidney grafts from their monozygotic twins from 1969 to 2013. The following data were recorded: age, renal graft recipient's primary disease, renal function, renal survival and overall survival. Immunosuppressive therapy included a single intraoperative dose of methylprednisolone 500 mg and no maintenance immunosuppression. Five patients with kidney grafts from their monozygotic twins were dentified in our centre. Mean age at transplantation was 33 years (27-39). One-year overall survival and graft survival were 100%. Mean creatinine level was 0.96 ± 0.2 one year after transplantation, and 1.2 ± 0.37 mg/dl at most recent follow-up. Two patients died with a functional graft more than 15 years after kidney transplantation (causes were melanoma and cardiovascular event respectively). Follow-up was lost in a patient one year after transplantation. Two patients are alive with a functioning graft at 18 months and 42.5 years after transplantation respectively. Kidney transplantation from a living monozygotic twin is associated to outstanding clinical outcomes. Immunossuppresive therapy to suppress alloimmune response in probably unnecessary 11 zygosity has been confirmed. Copyright © 2015 The Authors. Published by Elsevier España, S.L.U. All rights reserved.

  4. Analysis of the covariance structure of digital ridge counts in the offspring of monozygotic twins.

    Science.gov (United States)

    Cantor, R M; Nance, W E; Eaves, L J; Winter, P M; Blanchard, M M

    1983-03-01

    Improved methods for analysis of covariance structures now permit the rigorous testing of multivariate genetic hypotheses. Using Jöreskog's Lisrel IV computer program we have conducted a confirmatory factor analysis of dermal ridge counts on the individual fingers of 509 offspring of 107 monozygotic twin pairs. Prior to the initiation of the model-fitting procedure, the sex-adjusted ridge counts for the offspring of male and female twins were partitioned by a multivariate nested analysis of variance yielding five 10 X 10 variance-covariance matrices containing a total of 275 distinctly observed parameters with which to estimate latent sources of genetic and environmental variation and test hypotheses about the factor structure of those latent causes. To provide an adequate explanation for the observed patterns of covariation, it was necessary to include additive genetic, random environmental, epistatic and maternal effects in the model and a structure for the additive genetic effects which included a general factor and allowed for hand asymmetry and finger symmetry. The results illustrate the value of these methods for the analysis of interrelated metric traits.

  5. Adolescent drinking and motivated decision-making: a cotwin-control investigation with monozygotic twins.

    Science.gov (United States)

    Malone, Stephen M; Luciana, Monica; Wilson, Sylia; Sparks, Jordan C; Hunt, Ruskin H; Thomas, Kathleen M; Iacono, William G

    2014-07-01

    The present study used a monozygotic (MZ) cotwin-control (CTC) design to investigate associations between alcohol use and performance on the Iowa gambling task (IGT) in a sample of 96 adolescents (half female). The MZ CTC design is well suited to shed light on whether poor decision-making, as reflected on IGT performance, predisposes individuals to abuse substances or is a consequence of use. Participants completed structural MRI scans as well, from which we derived gray matter volumes for cortical and subcortical regions involved in IGT performance and reduced in adolescents with problematic alcohol use. Drinking was associated with poorer task performance and with reduced volume of the left lateral orbital-frontal cortex. CTC analyses indicated that the former was due to differences between members of twin pairs in alcohol use (suggesting a causal effect of alcohol), whereas the latter was due to factors shared by twins (consistent with a pre-existing vulnerability for use). Although these preliminary findings warrant replication, they suggest that normative levels of alcohol use may diminish the quality of adolescent decision-making and thus have potentially important public health implications.

  6. A case report of monozygotic twins with Smith-Magenis syndrome.

    Science.gov (United States)

    Hicks, Matthew; Ferguson, Susan; Bernier, Francois; Lemay, Jean-François

    2008-02-01

    Monozygotic 3.5-year-old twin boys presented for developmental assessment with a history of global developmental delay, behavioral issues including self-harm, and severe receptive and expressive language delays. Chromosome testing confirmed for both a 17p11.2 interstitial microdeletion commonly seen in Smith-Magenis syndrome (SMS), which is characterized by developmental delay, cognitive impairment, and facial and behavioral phenotype. To our knowledge, this is the first description in the literature of monozygotic twins with SMS. Despite their zygosity, the twins had marked differences in presentation including cardiac and renal anomalies, language development, and behavioral phenotype. Both twins displayed disordered speech development, impairments in social interaction, and stereotyped behaviors consistent with autism spectrum disorder, common in the vast majority of cases of SMS. Examining the differences in behavioral and clinical phenotype in monozygotic twins may lead to a better understanding of the cause of the clinical variability seen in SMS, as well as the natural history of this syndrome.

  7. Similar caries pattern in monozygotic twins: Role of nature and/or nurture

    Directory of Open Access Journals (Sweden)

    Anshula Deshpande

    2012-01-01

    Full Text Available The present article attempts to relook at the role of genetics in the caries pattern in pediatric patients. Genetics exerts a major influence on initiation and progression of caries. Several investigators have studied the genetic aspects in humans using both twin studies and family pedigree approaches. The recent advances in molecular biology and the outcomes of the Human Genome Project can help to have innovative approaches to understand the etiology of this complex disease. A pair of 5-year-old monozygotic twin brothers was referred by the Pediatrician for multiple caries. Both the brothers were reared apart but presented with similar dental caries traits. Comprehensive oral health care with a preventive and therapeutic procedure was provided. Periodic recall visits were scheduled after every 6 months. By studying dental diseases in the twins reared apart, the element of environmental influence is eliminated while retaining the advantage of similar genotype in monozygotic twins. This report of monozygotic twins imparts light on the significant contribution of genetic factors on caries susceptibility.

  8. Ectopic neuroblastoma in monozygotic twins with different ages of onset: possible twin-to-twin metastasis in utero with distinct genetic alterations after birth.

    Science.gov (United States)

    Taketani, Takeshi; Takita, Junko; Ueyama, Junichi; Kanai, Rie; Kumori, Koji; Maruyama, Riruke; Hayashi, Kazuhiko; Ogawa, Seishi; Fukuda, Seiji; Yamaguchi, Seiji

    2014-03-01

    We describe neuroblastoma (NB) in monozygotic twins whose ages at the onset of the disease had a 3-year interval. The primary tumor site of twin 1 was the adrenal gland, whereas that of twin 2 was the jejunum/mesentery. MYCN amplification, DNA index, ALK mutation, and copy number alterations of DNA were different between each primary tumor. NB in ectopic sites may have resulted from twin-to-twin metastasis through vascular anastamoses in the placenta. The pathogenesis of this NB involved a premalignant stage of NB during the fetal development and subsequent molecular alterations after birth, resulting in NBs that were phenotypically similar but genetically different.

  9. Danish cohort of monozygotic inflammatory bowel disease twins

    DEFF Research Database (Denmark)

    Moller, Frederik Trier; Knudsen, Lina; Harbord, Marcus

    2016-01-01

    comprised 31 UC, 5 IBDU (IBD unclassified), and 8 CD discordant pairs. In the co-twins not affected by IBD, calprotectin was above 100 μg/g in 2 participants, and above 50 μg/g in a further 5 participants. CONCLUSION: The presented IBD twin cohorts are an excellent resource for bioinformatics studies...

  10. Congenital scoliosis in monozygotic twins: case report and review of possible factors contributing to its development

    Directory of Open Access Journals (Sweden)

    Weiss Hans-Rudolf

    2008-11-01

    Full Text Available Abstract Background The exact etiology of congenital scoliosis remains unknown as yet. It seems that its development may be influenced by both genetic predisposition and environmental factors, at varying degrees. International bibliography features few cases of monozygotic twins with congenital scoliosis. The aim of this study is to report a case in monozygotic twins and review the literature relating to the description of similar cases as well as the pathophysiological mechanism involved in its development. Methods Clinical examination and simple X-rays revealed scoliosis of differing degrees and types in male monozygotic twins with moderate mental retardation and dyslalia. Results Congenital scoliosis identified in both twins. In the first, this was manifested as left thoracic scoliosis, with Cobb angle of 34 degrees while in the second as left thoracolumbar scoliosis with Cobb angle of 10 degrees. Both were found to suffer from incarcerated hemivertebrae. Conclusion According to both its clinical identification and severity and to its course, not only the genetic but the environmental factors seem to play a leading role in the appearance of the condition.

  11. Increased frequency of micronuclei in adults with a history of childhood sexual abuse: a discordant monozygotic twin study.

    Directory of Open Access Journals (Sweden)

    Timothy P York

    Full Text Available BACKGROUND: Childhood sexual abuse (CSA is a traumatic life event associated with an increased lifetime risk for psychopathology/morbidity. The long-term biological consequences of CSA-elicited stress on chromosomal stability in adults are unknown. The primary aim of this study was to determine if the rate of acquired chromosomal changes, measured using the cytokinesis-block micronucleus assay on stimulated peripheral blood lymphocytes, differs in adult female monozygotic twins discordant for CSA. METHODS: Monozygotic twin pairs discordant for CSA were identified from a larger population-based sample of female adult twins for whom the experience of CSA was assessed by self-report (51 individuals including a reference sample. Micronuclei (MN contain chromatin from structurally normal or abnormal chromosomes that are excluded from the daughter nuclei during cell division and serve as a biomarker to assess acquired chromosomal instability. RESULTS: Female twins exposed to CSA exhibited a 1.63-fold average increase in their frequency of MN compared to their nonexposed genetically identical cotwins (Paired t-test, t₁₆ = 2.65, P = 0.017. No additional effects of familial factors were detected after controlling for the effect of CSA exposure. A significant interaction between CSA history and age was observed, suggesting that the biological effects of CSA on MN formation may be cumulative. CONCLUSIONS: These data support a direct link between CSA exposure and MN formation measured in adults that is not attributable to genetic or environmental factors shared by siblings. Further research is warranted to understand the biological basis for the observed increase in acquired chromosomal findings in people exposed to CSA and to determine if acquired somatic chromosomal abnormalities/somatic clonal mosaicism might mediate the adult pathology associated with CSA.

  12. Blood DNA methylation age is not associated with cognitive functioning in middle-aged monozygotic twins

    DEFF Research Database (Denmark)

    Starnawska, A; Tan, Q; Lenart, A

    2016-01-01

    reported in a recent intrapair twin study where epigenetically older twins had increased mortality risk in comparison to their co-twins. In the study presented here, we hypothesize that DNAmAge in blood is associated with cross-sectional and longitudinal cognitive abilities in middle-aged individuals......The epigenetic clock, also known as DNA methylation age (DNAmAge), represents age-related changes of DNA methylation at multiple sites of the genome and is suggested to be a biomarker for biological age. Elevated blood DNAmAge is associated with all-cause mortality, with the strongest effects....... In 486 monozygotic twins, we investigated the association of DNAmAge, difference between DNAmAge and chronological age and age acceleration with cognition. Despite using a powerful paired twin design, we found no evidence for association of blood DNAmAge with cognitive abilities. This observation...

  13. Risk for multiple sclerosis in dizygotic and monozygotic twins

    DEFF Research Database (Denmark)

    Hansen, Thomas; Skytthe, Axel; Stenager, Egon

    2005-01-01

    We investigated the risks of twins for multiple sclerosis (MS). Our data are linked registers of all Danish twins and of all Danes born between 1920 and 1970 in whom MS was diagnosed before 1997. We compared differences in the risks for MS by Cox regression and standardized incidence ratios. Our...... findings, but suggest that either sharing fetal life with a genotypically different individual is beneficial for the immune system or that there is a linkage between the genes that influence dizygotic twinning and other genes that protect against MS....

  14. Monozygotic twins with Marfan's syndrome and ascending aortic aneurysm.

    Science.gov (United States)

    Redruello, Héctor Jorge; Cianciulli, Tomas Francisco; Rostello, Eduardo Fernandez; Recalde, Barbara; Lax, Jorge Alberto; Picone, Victorio Próspero; Belforte, Sandro Mario; Prezioso, Horacio Alberto

    2007-08-01

    Marfan's syndrome is a hereditary connective tissue disease, in which cardiovascular abnormalities (especially aortic root dilatation) are the most important cause of morbidity and mortality. In this report, we describe two 24-year-old twins, with a history of surgery for lens subluxation and severe cardiovascular manifestations secondary to Marfan's syndrome. One of the twins suffered a type A aortic dissection, which required replacement of the ascending aorta, and the other twin had an aneurysmal dilatation of the ascending aorta (46mm) and was prescribed medical treatment with atenolol and periodic controls to detect the presence of a critical diameter (50mm) that would indicate the need for prophylactic surgery.

  15. [Variation of growth in monozygotic twins analyzed by longitudinal method].

    Science.gov (United States)

    Tzatcheva, L S; Kadanoff, D D; Paskova, D G

    1981-01-01

    On the base of a "genetic model" of MZ twins a longitudinal investigation was carried out during a period of 12 years. A global dimension - body height - and two basic body proportions - the frontal anterior length of the trunk and the length of the lower limb - were traced by the method of percentage deviation between the twin partners. During the whole period of growth, the global dimension are nearly equal, while the parts of the body, vary up to some limits.

  16. Recurrent digital infections and osteomyelitis in monozygotic twins with congenital analgesia and compulsive onychophagia.

    Science.gov (United States)

    Iorio, Matthew L; Barbour, John R

    2014-07-01

    Congenital insensitivity to pain is a rare sensory neuropathy that manifests with multiple and recurrent injuries secondary to a lack of negative pain stimuli. When present with compulsive onychophagia, prompt recognition and behavioral management to prevent chronic digital infection or amputation is imperative. We present the case of two 7 year-old monozygotic twins that presented with congenital insensitivity to pain and compulsive onychophagia without directed parental counseling or behavioral modification strategies. The presenting child was noted to have an acute digital felon and osteomyelitis of several distal phalanges, and the sister had a similar history with distal phalangeal amputations. The occurrence of these overlapping disorders in monozygotic twins has not been previously reported, however, patient and parental education with behavioral modifications of injurious and compulsive behavior is the cornerstone of management. In addition, we have provided a review of the diagnosis for clinical differentiation.

  17. Mental Representations of Attachment in Identical Female Twins with and without Conduct Problems

    Science.gov (United States)

    Constantino, John N.; Chackes, Laura M.; Wartner, Ulrike G.; Gross, Maggie; Brophy, Susan L.; Vitale, Josie; Heath, Andrew C.

    2006-01-01

    Insecure mental representations of attachment, a nearly invariant feature of cluster B personality disorders, have never previously been studied in twins. We conducted the Adult Attachment Interview (AAI) on 33 pairs of monozygotic (MZ) female twins reared together as an initial exploration of causal influences on mental representations of…

  18. Monozygotic Monochorionic Twins Discordant for Trisomy 21: A Reason to Evaluate Both Fetuses: A Case Report.

    Science.gov (United States)

    Macatangga, Monica; De la Calle, Maria; Torres, Maria Luisa; Bartha, Jose Luis

    2016-01-01

    The occurrence of a discordant chromosomal abnormality in monozygotic twins is an extremely rare condition. We report the prenatal sonographic findings and cytogenetic studies in a monochorionic twin pregnancy discordant for severe fetal anomalies. Amniocentesis was normal for both twins. The pregnancy was managed conservatively, resulting in the delivery of discordant twins at 28 weeks. Cytogenetic analysis performed on cultured lymphocytes from peripheral blood revealed a mosaic 47XY+21 (in 2% of the cells)/46XY (in 98%) in the structurally normal twin, and a mosaic 47XY+21 (4%)/46XY (96%) for the abnormal twin. The abnormal neonate died shortly after delivery. The structurally normal twin survived without sequelae and had a normal karyotype 2 years later. This report adds to the literature a case of a monochorionic twin pregnancy with a mosaic fetus who gives his co-twin trisomic cells through placental vascular anastomoses, this twin being a chimera, highlighting the necessity of performing molecular genetics with polymorphic DNA markers to differentiate chimerism from mosaicism and define the origin of cell lines.

  19. Differentially Methylated DNA Regions in Monozygotic Twin Pairs Discordant for Rheumatoid Arthritis

    DEFF Research Database (Denmark)

    Svendsen, Anders J; Gervin, Kristina; Lyle, Robert;

    2016-01-01

    OBJECTIVES: In an explorative epigenome-wide association study (EWAS) to search for gene independent, differentially methylated DNA positions and regions (DMRs) associated with rheumatoid arthritis (RA) by studying monozygotic (MZ) twin pairs discordant for RA. METHODS: Genomic DNA was isolated......: We identified several differentially methylated regions associated with RA, which may represent environmental effects or consequences of the disease and plausible biological pathways pertinent to the pathogenesis of RA....

  20. Metabolome and fecal microbiota in monozygotic twin pairs discordant for weight: a Big Mac challenge.

    Science.gov (United States)

    Bondia-Pons, Isabel; Maukonen, Johanna; Mattila, Ismo; Rissanen, Aila; Saarela, Maria; Kaprio, Jaakko; Hakkarainen, Antti; Lundbom, Jesper; Lundbom, Nina; Hyötyläinen, Tuulia; Pietiläinen, Kirsi H; Orešič, Matej

    2014-09-01

    Postprandial responses to food are complex, involving both genetic and environmental factors. We studied postprandial responses to a Big Mac meal challenge in monozygotic co-twins highly discordant for body weight. This unique design allows assessment of the contribution of obesity, independent of genetic liability. Comprehensive metabolic profiling using 3 analytical platforms was applied to fasting and postprandial serum samples from 16 healthy monozygotic twin pairs discordant for weight (body mass index difference >3 kg/m(2)). Nine concordant monozygotic pairs were examined as control pairs. Fecal samples were analyzed to assess diversity of the major bacterial groups by using 5 different validated bacterial group specific denaturing gradient gel electrophoresis methods. No differences in fecal bacterial diversity were detected when comparing co-twins discordant for weight (ANOVA, Pfasting state, but their levels converged postprandially (paired t tests, FDR q<0.05). We also found that specific bacterial groups were associated with postprandial changes of specific metabolites. Our findings underline important roles of genetic and early life factors in the regulation of postprandial metabolite levels.

  1. Epigenetic differences in cortical neurons from a pair of monozygotic twins discordant for Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Diego Mastroeni

    Full Text Available DNA methylation is capable of modulating coordinate expression of large numbers of genes across many different pathways, and may therefore warrant investigation for their potential role between genes and disease phenotype. In a rare set of monozygotic twins discordant for Alzheimer's disease (AD, significantly reduced levels of DNA methylation were observed in temporal neocortex neuronal nuclei of the AD twin. These findings are consistent with the hypothesis that epigenetic mechanisms may mediate at the molecular level the effects of life events on AD risk, and provide, for the first time, a potential explanation for AD discordance despite genetic similarities.

  2. Cedar Pollen Aggravates Atopic Dermatitis in Childhood Monozygotic Twin Patients with Allergic Rhino Conjunctivitis

    OpenAIRE

    Yukako Murakami; Saki Matsui; Akiko Kijima; Shun Kitaba; Hiroyuki Murota; Ichiro Katayama

    2011-01-01

    We report a case of 7-year-old monozygotic twin patients with atopic dermatitis. The HLA haplotypes were HLA A2, A11, B27, B61, DR1, and DR4. Both serum IgE levels and cedar pollen radioallergosorbent test (RAST) scores were high in the twins (elder/younger sister: IgE: 5170/3980 IU/ml and Japansese cedar pollen: >100/64.0) in contrast to low mite and food RAST scores (Dermatophagoides Pterygonium; 0.59/0.4 and egg white 9.24/4.6). The patients showed positive immediate (20 min in both sister...

  3. Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex.

    Science.gov (United States)

    Tho, Sandra P; Jackson, Robert; Kulharya, Anita S; Reindollar, Richard H; Layman, Lawrence C; McDonough, Paul G

    2007-11-01

    We report on the follow-up of a set of monozygotic (MZ) twins who were concordant for peripheral blood karyotype 45,X/46,XY but discordant for phenotypic sex. One twin is a phenotypically normal male and the other twin has asymetrical gonadal dysgenesis. The female twin has the mos45,X/46,XY karyotype in all four tissues: left testis, right streak, vas deferens, and clitoral skin. The normal male twin has the normal 46,XY karyotype in all three tissues tested: foreskin, scrotal skin, and testis. Follow-up of the twins at age 21, revealed persistence of mos45,X/46,XY karyotype in peripheral blood into adult life. However, the male grew up with normal male stature, reaching an adult height of 182 cm. The female twin received low dose estrogen replacement with complete breast development at age 14 years. She reached an adult height of 156 cm. At 21 years of age the male twin had normal testicular endocrine function, but severe oligospermia. The long-term follow-up of this set of MZ twins indicate that the male twin has the mosaicism confined to peripheral blood and has the normal 46,XY male constitution. This was further confirmed by his normal male stature and normal testicular endocrine function. The 45X cell line is likely due to his receiving these cells passively from his twin sister via placental anastomoses in utero. The exposure to these 45,X cells during development may have had an impact on his spermatogenesis.

  4. Monozygotic twinning in rhesus monkeys by manipulation of in vitro-derived embryos.

    Science.gov (United States)

    Mitalipov, Shoukhrat M; Yeoman, Richard R; Kuo, Hung-Chih; Wolf, Don P

    2002-05-01

    The nonhuman primate is a relevant model for human disease that can be used for diverse biomedical investigations. The ability to propagate a founder animal by application of assisted reproductive technologies is pressing, but an even greater need in many studies is access to genetically identical animals. In an effort to create genetically identical monkeys, we evaluated two approaches to monozygotic twinning; blastomere separation, and blastocyst bisection. Embryos were produced by intracytoplasmic sperm injection of oocytes recovered following controlled ovarian stimulation. The quality of demiembryos produced in these efforts was evaluated by quantitating the efficiency of creating identical pairs for embryo transfer, by morphological assessment, by the allocation of cells to the inner cell mass (ICM) and trophectoderm (TE) in the blastocyst, and by the outcome of embryo transfer to synchronized host animals. Pairs were produced in high yield (85%-95%) by both twinning methods. Demiembryos resulting from blastomere separations at the 2- or 4-cell stage grew to blastocysts at the control frequency. Demiblastocysts contained, on average, half the number of cells of the intact controls while maintaining the same ICM:TE or ICM:total cell ratio. The equivalency of demiblastocysts within a set was also evaluated by differential cell counting. Embryo transfers of identical sets led to a 33% clinical pregnancy rate, with two twin pregnancies initiated. Neither pregnancy resulted in term birth of monozygotic twins, but our results are sufficiently encouraging to justify a large-scale twinning trial in the rhesus macaque.

  5. Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis

    Directory of Open Access Journals (Sweden)

    Melean German

    2010-08-01

    Full Text Available Abstract Background Neurofibromatosis type 1 is a common autosomal dominant disorder with full penetrance and variable expression. The condition predisposes individuals to the development of malignant nervous system tumours, most frequently Malignant Peripheral Nerve Sheath Tumours (MPNSTs. Previous studies indicate that genetic factors other than mutations in NF1 may be responsible for the condition's variable expression. Case report Here we present data from a pair of monozygotic twins affected by Neurofibromatosis type 1 resulting from a de novo mutation. Both twins developed a left sciatic plexiform neurofibroma that evolved into MPNST at a similar age and they also developed pulmonary metastasis at the same age. Other concordant traits between the twins were: macrocephaly, psychomotor delay, café-au-lait spots, cutaneous neurofibromas, retroperitoneal, pleural and paraspinal neurofibromas. The main discordant features observed were tibial pseudoarthrosis, pectus carinatum, osteoporosis and thymus hyperplasia. Conclusions This is the first report of monozygotic twins with Neurofibromatosis type 1 that develop MPNSTs, the localization and chronological evolution of which, and its metastasis, is concordant in both twins. These cases suggest that the events involved in the transformation of benign plexiform neurofibromas to MPNSTs in Neurofibromatosis type 1, follow a spatiotemporally programme that is influenced by heritable factors other than NF1 mutations.

  6. Low birth weight is associated with NIDDM in discordant monozygotic and dizygotic twin pairs

    DEFF Research Database (Denmark)

    Poulsen, P; Vaag, Allan; Kyvik, K O;

    1997-01-01

    Previous studies have demonstrated an association between low weight at birth and risk of later development of non-insulin-dependent diabetes mellitus (NIDDM). It is not known whether this association is due to an impact of intrauterine malnutrition per se, or whether it is due to a coincidence....... Furthermore, monozygotic (MZ) twins have identical genotypes. Original midwife birth weight record determinations were traced in MZ and dizygotic (DZ) twins discordant for NIDDM. Birth weights were lower in the NIDDM twins (n = 2 x 14) compared with both their identical (MZ; n = 14) and non-identical (DZ; n...... = 14) non-diabetic co-twins, respectively (MZ: mean +/- SEM 2634 +/- 135 vs 2829 +/- 131 g, p

  7. Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

    Science.gov (United States)

    Shotelersuk, V; Tifft, C J; Vacha, S; Peters, K F; Biesecker, L G

    1999-09-17

    The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was recently mapped to Xp22.3-p22.2. We report on monozygotic twin girls discordant for OFD1. Monozygosity is supported by placental pathology (monochorionic diamniotic) and molecular studies with probability of dizygosity twin has oral cavity abnormalities including median cleft lip, cleft palate, lobulated hamartomatous tongue, aberrant hyperplastic oral frenula, alveolar notches, and absent lateral incisors. Facial manifestations include telecanthus, hypoplastic alae nasi, and transient neonatal facial milia. The patient also has short and deviated fingers with partial cutaneous syndactyly. At 10 years, she has not had central nervous system or kidney problems. X-inactivation study revealed similar X-inactivation patterns in the lymphoblasts of both twins. We conclude that skewed X-inactivation is an unlikely cause for the discordance, which is more likely due to a postzygotic mutation in the affected twin.

  8. Brazilian Twin Registry: A Bright Future for Twin Studies/Twin Research: Twin Study of Alcohol Consumption and Mortality; Oxygen Uptake in Adolescent Twins/In the News: Superfecundated Twins In Vietnam; Adolescent Twin Relations; Twin and Triplet Co-Workers; A Special Twin Ultrasound; Monozygotic Twins With Different Skin Color; Identical Twin Returns from Space.

    Science.gov (United States)

    Segal, Nancy L

    2016-06-01

    The establishment of the Brazilian Twin Registry for the study of genetic, social, and cultural influences on behavior is one of eleven newly funded projects in the Department of Psychology at the University of São Paulo. These 11 interrelated projects form the core of the university's Center for Applied Research on Well-Being and Human Behavior. An overview of the planned twin research and activities to date is presented. Next, two recent twin studies are reviewed, one on the relationship between alcohol consumption and mortality, and the other on factors affecting maximal oxygen uptake. Twins cited in the media include the first identified superfecundated twins in Vietnam, adolescent twin relations, twins and triplets who work together, monozygotic twins with different skin tones and a co-twin control study that addresses the effects of space travel.

  9. PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins.

    Science.gov (United States)

    Castiglioni, Claudia; López, Isabel; Riant, Florence; Bertini, Enrico; Terracciano, Alessandra

    2013-05-01

    PRRT2 gene mutations have recently been identified as a causative gene of Paroxysmal kinesigenic dyskinesia (PKD), a rare movement disorder characterised by the occurrence of chorea, dystonia or athetosis triggered by sudden action. Some patients have additional intermittent neurologic disorders like infantile convulsions. The association with migraine has been rarely reported in this condition. Here we report the coexistence of PKD and hemiplegic migraine in twins harbouring a heterozygous mutation in PRRT2. Two monozygotic twins manifesting PKD together with repeated episodes of migraine with some severe attacks of hemiplegic migraine have been followed and treated for more than 10 years. Molecular genetic analysis disclosed the c.649_650insC, p.R217Pfs*8 heterozygous mutation in both twins. This mutation was segregating from the mother who likewise harboured the same mutation c.649dupC although she had never manifested PKD but complained of rare common migraine attacks in her past history. The association of PKD and hemiplegic migraine has been previously reported in one large family, associated to febrile convulsions and afebrile seizures in some individuals, but our report relates this association of symptoms to a mutation in PRRT2. The co-occurrence of both hemiplegic migraine and PKD in monozygotic twins expands the phenotypic spectrum of intermittent manifestations related to PRRT2 and perhaps suggests an additional causing gene for hemiplegic migraine. Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  10. Objective assessment of facial skin aging and the associated environmental factors in Japanese monozygotic twins.

    Science.gov (United States)

    Ichibori, Ryoko; Fujiwara, Takashi; Tanigawa, Tomoko; Kanazawa, Shigeyuki; Shingaki, Kenta; Torii, Kosuke; Tomita, Koichi; Yano, Kenji; Sakai, Yasuo; Hosokawa, Ko

    2014-06-01

    Twin studies, especially those involving monozygotic (MZ) twins, facilitate the analysis of factors affecting skin aging while controlling for age, gender, and genetic susceptibility. The purpose of this study was to objectively assess various features of facial skin and analyze the effects of environmental factors on these features in MZ twins. At the Osaka Twin Research Center, 67 pairs of MZ twins underwent medical interviews and photographic assessments, using the VISIA(®) Complexion Analysis System. First, the average scores of the right and left cheek skin spots, wrinkles, pores, texture, and erythema were calculated; the differences between the scores were then compared in each pair of twins. Next, using the results of medical interviews and VISIA data, we investigated the effects of environmental factors on skin aging. The data were analyzed using Pearson's correlation coefficient test and the Wilcoxon signed-rank test. The intrapair differences in facial texture scores significantly increased as the age of the twins increased (P = 0.03). Among the twin pairs who provided answers to the questions regarding history differences in medical interviews, the twins who smoked or did not use skin protection showed significantly higher facial texture or wrinkle scores compared with the twins not exposed to cigarettes or protectants (P = 0.04 and 0.03, respectively). The study demonstrated that skin aging among Japanese MZ twins, especially in terms of facial texture, was significantly influenced by environmental factors. In addition, smoking and skin protectant use were important environmental factors influencing skin aging.

  11. Double jeopardy: multi-modality imaging of monozygotic "twin cap" atherosclerosis.

    Science.gov (United States)

    Murray, Scott W; Cooper, Robert M; Appleby, Clare; McCann, Caroline; Binukrishnan, Sukumaran; Radu, Maria D; Stables, Rodney H

    2014-11-01

    The investigation of asymptomatic but potentially vulnerable atherosclerosis is not yet a major focus for clinical Cardiologists. We have illustrated the contemporary investigation and treatment of such disease using a clinical case that involved monozygotic twins. One twin (T1) had unfortunately suffered a cardiac arrest whilst jogging and survived only due to bystander CPR and prompt defibrillation. His identical twin brother (T2), on subsequent investigation, harbours a compositionally identical lesion in a proximal coronary vessel that has not yet ruptured or provoked a clinical event. Following the presentation of both non-invasive and invasive images, we discuss the need for active suspicion and intensive treatment for those people with a 'genetic' risk of future myocardial infarction.

  12. Case of early childhood-onset narcolepsy with cataplexy: comparison with a monozygotic co-twin.

    Science.gov (United States)

    Ito, Hiromichi; Mori, Kenji; Mori, Tatsuo; Goji, Aya; Kagami, Shoji

    2014-10-01

    We describe here a rare case of early childhood-onset (5 years of age) narcolepsy. This case was interesting because of the ability to compare the patient's symptoms to the condition of her healthy monozygotic co-twin sister. The only environmental difference between the co-twins was head injury, which may be associated with the presence of narcolepsy. The co-twin was extroverted, sociable, reliable, and dexterous. In contrast, the patient could be described as introverted, gentle, honest and persevering, but was weak at conversation, assessment of a situation, memory, planning, activity (she was inactive), a sense of time, understanding of an analog clock, operating efficiency, and physical education (due to obesity). The sisters showed the same degree of appetite and dexterity with their fingers. Narcolepsy is often under-recognized or underdiagnosed, especially when the onset occurs in childhood. When we observe preschoolers with excessive daytime sleepiness, we should consider the possibility of narcolepsy with cataplexy.

  13. DNA Methylation Changes in the IGF1R Gene in Birth Weight Discordant Adult Monozygotic Twins

    DEFF Research Database (Denmark)

    Tsai, Pei-Chien; Van Dongen, Jenny; Tan, Qihua;

    2015-01-01

    Low birth weight (LBW) can have an impact on health outcomes in later life, especially in relation to pre-disposition to metabolic disease. Several studies suggest that LBW resulting from restricted intrauterine growth leaves a footprint on DNA methylation in utero, and this influence likely...... persists into adulthood. To investigate this further, we performed epigenome-wide association analyses of blood DNA methylation using Infinium HumanMethylation450 BeadChip profiles in 71 adult monozygotic (MZ) twin pairs who were extremely discordant for birth weight. A signal mapping to the IGF1R gene (cg...... was particularly pronounced in older twins (random-effects meta-analysis p = .008, 98 older birth-weight discordant MZ twin pairs). The results suggest that severe intra-uterine growth differences (birth weight discordance >20%) are associated with methylation changes in the IGF1R gene in adulthood, independent...

  14. Psychiatric outcomes of bullying victimization: A study of discordant monozygotic twins

    Science.gov (United States)

    Silberg, Judy L.; Copeland, William; Linker, Julie; Moore, Ashlee A.; Roberson-Nay, Roxann; York, Timothy P.

    2016-01-01

    Background Bullying victimization in childhood is associated with a broad array of serious mental health disturbances, including anxiety, depression, and suicidal ideation and behavior. The key goal of this study was to evaluate whether bullying victimization is a true environmental risk factor for psychiatric disturbance using data from 145 bully-discordant monozygotic (MZ) juvenile twin pairs from the Virginia Twin Study of Adolescent Behavioral Development (VTSABD) and their follow-up into young adulthood. Method Since MZ twins share an identical genotype and familial environment, a higher rate of psychiatric disturbance in a bullied MZ twin compared to their non-bullied MZ co-twin would be evidence of an environmental impact of bullying victimization. Environmental correlations between being bullied and the different psychiatric traits were estimated by fitting structural equation models to the full sample of MZ and DZ twins (N = 2824). Environmental associations were further explored using the longitudinal data on the bullying-discordant MZ twins. Results Being bullied was associated with a wide range of psychiatric disorders in both children and young adults. The analysis of data on the MZ-discordant twins supports a genuine environmental impact of bullying victimization on childhood social anxiety [odds ratio (OR) 1.7], separation anxiety (OR 1.9), and young adult suicidal ideation (OR 1.3). There was a shared genetic influence on social anxiety and bullying victimization, consistent with social anxiety being both an antecedent and consequence of being bullied. Conclusion Bullying victimization in childhood is a significant environmental trauma and should be included in any mental health assessment of children and young adults. PMID:26979565

  15. Cord blood immunoglobulin E in like-sexed monozygotic and dizygotic twins

    DEFF Research Database (Denmark)

    Husby, S; Holm, N V; Christensen, K

    1996-01-01

    Genetic and environmental factors have been implicated in the etiology of atopy and of serum IgE levels. In order to eliminate post-natal environmental influences we measured IgE in cord blood (CB-IgE) from a cohort of unselected, like-sexed twins. IgE determination was performed with a sensitive...... radioimmunoassay with a detection limit of 0.01 kU/l. Samples with contamination by maternal blood were identified by IgA determination and excluded. CB-IgE was evaluated in 29 monozygotic (MZ) and 28 dizygotic (DZ) twin pairs. The means and variances for IgE values were comparable for MZ and DZ twins when sex...... was controlled for. Placental anatomy (MZ twins with mono- and dichorial placenta and DZ twins with one or two placentae) had no significant influence on the IgE levels. In an analysis of variance with sub-sampling the among-pair, within-pair and analytical variance components were calculated. The analytical...

  16. The timing of monozygotic twinning: a criticism of the common model.

    Science.gov (United States)

    Herranz, Gonzalo

    2015-02-01

    In the dominant model, monozygotic (MZ) twinning is universally accepted as a post-fertilization event resulting from splitting of the embryo along its first 2 weeks of development. The stage at which splitting occurs determines chorionicity and amnionicity. A short history on how the model was built is presented, stressing the role played by some embryologists, in particular George Corner, in its completion and final success. Strikingly, for more than 60 years no deep criticisms have been raised against the model, which, in virtue of its rational and plausible character, enjoys the status of undisputed truth. At close examination, the embryological support of the model shows some important weak points, particularly when dealing with late splitting. In the author's view, the model not only has contributed to 'suspend' our knowledge on the timing of MZ twinning, but seems indefensible and claims to be substituted. That factor could imply relevant consequences for embryology and bioethics. As an alternative to the model, a new theory to explain the timing of MZ twinning is proposed. It is based on two premises. First, MZ twinning would be a fertilization event. In that case, due to an alteration of the zygote-blastomere transition, the first zygotic division, instead of producing two blastomeres, generates twin zygotes. Second, monochorionicity and monoamnionicity would not depend on embryo splitting, but on fusion of membranes. Some support for this theory can be found in recent embryological advances and also in some explanations of old.

  17. Simultaneous atelectasis in human bocavirus infected monozygotic twins: was it plastic bronchitis?

    Science.gov (United States)

    Rüegger, Christoph M; Bär, Walter; Iseli, Peter

    2013-12-18

    Plastic bronchitis is an extremely rare disease characterized by the formation of tracheobronchial airway casts, which are composed of a fibrinous exudate with rubber-like consistency and cause respiratory distress as a result of severe airflow obstruction. Bronchial casts may be associated with congenital and acquired cardiopathies, bronchopulmonary diseases leading to mucus hypersecretion, and pulmonary lymphatic abnormalities. In recent years, however, there is growing evidence that plastic bronchitis can also be triggered by common respiratory tract infections and thereby cause atelectasis even in otherwise healthy children. We report on 22-month-old monozygotic twins presenting with atelectasis triggered by a simple respiratory tract infection. The clinical, laboratory, and radiographic findings given, bronchial cast formation was suspected in both infants but could only be confirmed after bronchoscopy in the first case. Real-time polymerase chain reaction of the removed cast as well as nasal lavage fluid of both infants demonstrated strong positivity for human bocavirus. Our case report is the first to describe two simultaneously affected monozygotic twins and substantiates the hypothesis of a contributing genetic factor in the pathophysiology of this disease. In this second report related to human bocavirus, we show additional evidence that this condition can be triggered by a simple respiratory tract infection in previously healthy infants.

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

    Science.gov (United States)

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

    2007-01-01

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

  19. Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy.

    Directory of Open Access Journals (Sweden)

    Pongsathorn Chaiyasap

    Full Text Available Congenital heart defects (CHD occur in 40% of patients with trisomy 21, while the other 60% have a structurally normal heart. This suggests that the increased dosage of genes on chromosome 21 is a risk factor for abnormal heart development. Interaction of genes on chromosome 21 or their gene products with certain alleles of genes on other chromosomes could contribute to CHD. Here, we identified a pair of monozygotic twins with trisomy 21 but discordant for a ventricular septal defect and epilepsy. Twin-zygosity was confirmed by microsatellite genotyping. We hypothesized that some genetic differences from post-twinning mutations caused the discordant phenotypes. Thus, next generation sequencing (NGS technologies were applied to sequence both whole genome and exome of their leukocytes. The post-analyses of the sequencing data revealed 21 putative discordant exonic variants between the twins from either genome or exome data. However, of the 15 variants chosen for validation with conventional Sanger sequencing, these candidate variants showed no differences in both twins. The fact that no discordant DNA variants were found suggests that sequence differences of DNA from leukocytes of monozygotic twins might be extremely rare. It also emphasizes the limitation of the current NGS technology in identifying causative genes for discordant phenotypes in monozygotic twins.

  20. Discordant tooth agenesis and peg-shaped in a pair of monozygotic twins: Clinical and molecular study.

    Science.gov (United States)

    Antunes, Lívia Azeredo Alves; Küchler, Erika Calvano; Costa, Marcelo de Castro; Antunes, Leonardo Santos; Granjeiro, José Mauro

    2013-11-01

    The present report aimed to study an uncommon case of a pair of twins that presented a discordant dental phenotype. Family investigation, clinical, radiographic examination and molecular analysis were performed in both girls. Molecular analysis confirmed the monozygosity by deoxyribonucleic acid chip technology. One twin presented tooth agenesis in left upper lateral incisor and peg-shaped on the contra lateral side while the other twin had no dental alterations. The dental casts study employed digital caliper to compare morphological dimensions and showed alteration only in peg-shaped tooth. In conclusion, this study provide support that one or more mutated gene could cause discordances in dental phenotype in these monozygotic twins.

  1. Xenotropic Murine Leukemia Virus-Related Virus in Monozygotic Twins Discordant for Chronic Fatigue Syndrome

    Science.gov (United States)

    Jerome, Keith R.; Diem, Kurt; Huang, Meei-Li; Selke, Stacy; Corey, Lawrence; Buchwald, Dedra

    2011-01-01

    A recent report suggested an association between xenotropic murine leukemia virus-related virus (XMRV) and chronic fatigue syndrome (CFS). If confirmed, this would suggest that antiretroviral therapy might benefit patients suffering from CFS. We validated a set of assays for XMRV, and evaluated the prevalence of XMRV in a cohort of monozygotic twins discordant for CFS. Stored PBMC were tested with 3 separate PCR assays (one of which was nested) for XMRV DNA, and serum/plasma was tested for XMRV RNA by reverse transcription (RT)-PCR. None of the PBMC samples from the twins with CFS or their unaffected co-twins were positive for XMRV, by any of the assays. One plasma sample, from an unaffected co-twin, was reproducibly positive by RT-PCR. However, serum from the same day was negative, as was a followup plasma sample obtained 2 days after the positive specimen. These data do not support an association of XMRV with CFS. PMID:21795004

  2. Promoter methylation of serotonin transporter gene is associated with obesity measures: a monozygotic twin study.

    Science.gov (United States)

    Zhao, J; Goldberg, J; Vaccarino, V

    2013-01-01

    Epigenetic mechanisms are increasingly being recognized as an important factor for obesity. The serotonin transporter gene (SLC6A4) has a critical role in regulating food intake, body weight and energy balance. This study examines the potential association between SLC6A4 promoter methylation and obesity measures in a monozygotic (MZ) twin sample. We studied 84 MZ twin pairs drawn from the Vietnam Era Twin Registry. Obesity measures include body mass index (BMI), body weight, waist circumference (WC) and waist-hip ratio (WHR). The SLC6A4 promoter methylation profile in peripheral blood leukocytes was quantified by bisulfite pyrosequencing. The association between methylation variation and obesity parameters was examined by mixed-model regression and matched pair analysis, adjusting for age, smoking, alcohol consumption, physical activity and total daily energy intake. Multiple testing was controlled using the adjusted false discovery rate (q-value). Mean methylation level was positively correlated with BMI (r=0.29; P=0.0002), body weight (r=0.31; Pobesity within a MZ twin study.

  3. Brain Structure and Function Differences in Monozygotic Twins: Possible Effects of Breast Cancer Chemotherapy

    Science.gov (United States)

    Ferguson, Robert J.; McDonald, Brenna C.; Saykin, Andrew J.; Ahles, Tim A.

    2012-01-01

    Purpose Adjuvant chemotherapy has been associated with mild cognitive decline among a subset of breast cancer survivors. Late cognitive effects after chemotherapy can have a deleterious impact on survivor quality of life and functional health; however, the etiology of chemotherapy-related cognitive dysfunction remains unknown. Patients and Methods We present a case of monozygotic twins who are discordant for breast cancer and chemotherapy exposure (ie, one twin contracted breast cancer and underwent chemotherapy, and the other had no breast cancer). As part of a larger study, each was evaluated with standardized, self-report measures of cognitive function, standard neuropsychological tests, and structural and functional magnetic resonance imaging (MRI). Results Results indicated small differences in neuropsychological test performance but striking contrasts in self-reported cognitive complaints and structural and functional MRI images. Specifically, the twin who underwent chemotherapy had substantially more subjective cognitive complaints, more white matter hyperintensities on MRI, and an expanded spatial extent of brain activation during working memory processing than her nonaffected twin. Conclusion This case illustrates possible physiologic mechanisms that could produce long-term cognitive complaints among chemotherapy recipients and help formulate hypotheses for further empirical study in the area of chemotherapy-associated cognitive dysfunction. PMID:17761972

  4. Production of early monozygotic twin bovineembryos in vitro by the blastomere separation and coculture technique

    Institute of Scientific and Technical Information of China (English)

    ZHAO Shan-jiang; ZHAO Xue-ming; DU Wei-hua; HAO Hai-sheng; LIU Yan; QIN Tong; WANG Dong; ZHU Hua-bin

    2015-01-01

    The objective of this study was to establish an efifcient system of producing early monozygotic twin bovine embryosin vitro using the blastomere separation and coculture technique.In this study, early eight-cel embryos were chosen to op-timize the separation method, and multi-coculture tactics were applied to improve the efifciency of this production system. Bovine embryo blastomeres (groups of at least 30 at the eight-cel stage) were separated into eight segments (to regard an eight-cel embryo as a tangerine, a blastomere as one segment) and one, two and four segments (blastomeres) were cultured respectively in microwels on the bottom of the four-wel dish (Nunc, Denmark) with 400 µL of culture medium under parafifn oil.Four different types of coculture tactics (cocultured with nothing, intact embryos, bovine cumulus cels (bCCs), intact embryos & bCCs) were applied to the group of four segments (blastomeres).Finaly, diameter and inner cel mass (ICM):trophectoderm (TE) cel ratio was measured as a criterion to assess the quality of the twin embryos which were derived from bovine separated blastomeres.Our results showed that rate of blastocyst formation of the four segments group was signiifcantly greater than one or two group (P0.05).Thus, these results suggest that combined with intact embryos & bCCs coculture system, culturing four isolated segments (blastomeres) per microwel is an efifcient system of producing early monozygotic twin bovine embryos.Furthermore, our results also indicate that the quality of blastocysts derived from separated blastomere may be similar to those derived from intact eight-cel embryos.

  5. First Language Attrition in the Speech of Dutch-English Bilinguals: The Case of Monozygotic Twin Sisters

    Science.gov (United States)

    Mayr, Robert; Price, Sacha; Mennen, Ineke

    2012-01-01

    Recent years have seen a proliferation of research on attrition in L1 speech (de Leeuw, Mennen & Scobbie, in press; de Leeuw, Schmid & Mennen, 2010; Dmitrieva, Jongman & Sereno, 2010; Mennen, 2004). Adding to this line of inquiry, the present study investigates the speech of a 62-year-old bilingual monozygotic twin who emigrated to an L2-speaking…

  6. DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins.

    Directory of Open Access Journals (Sweden)

    M Reza Sailani

    Full Text Available DNA methylation is essential in mammalian development. We have hypothesized that methylation differences induced by trisomy 21 (T21 contribute to the phenotypic characteristics and heterogeneity in Down syndrome (DS. In order to determine the methylation differences in T21 without interference of the interindividual genomic variation, we have used fetal skin fibroblasts from monozygotic (MZ twins discordant for T21. We also used skin fibroblasts from MZ twins concordant for T21, normal MZ twins without T21, and unrelated normal and T21 individuals. Reduced Representation Bisulfite Sequencing (RRBS revealed 35 differentially methylated promoter regions (DMRs (Absolute methylation differences = 25%, FDR < 0.001 in MZ twins discordant for T21 that have also been observed in comparison between unrelated normal and T21 individuals. The identified DMRs are enriched for genes involved in embryonic organ morphogenesis (FDR = 1.60 e -03 and include genes of the HOXB and HOXD clusters. These DMRs are maintained in iPS cells generated from this twin pair and are correlated with the gene expression changes. We have also observed an increase in DNA methylation level in the T21 methylome compared to the normal euploid methylome. This observation is concordant with the up regulation of DNA methyltransferase enzymes (DNMT3B and DNMT3L and down regulation of DNA demethylation enzymes (TET2 and TET3 observed in the iPSC of the T21 versus normal twin. Altogether, the results of this study highlight the epigenetic effects of the extra chromosome 21 in T21 on loci outside of this chromosome that are relevant to DS associated phenotypes.

  7. [CLINICAL CASE OF COMBINATION OF PRIMARY SCLEROSING CHOLANGITIS WITH NONSPECIFIC ULCERATIVE COLITIS IN TWINS MONOZYGOTIC].

    Science.gov (United States)

    Gubergrits, N B; Belyayeva, N V; Klochkov, A Ye; Fomenko, P G; Lukashevich, G M

    2015-01-01

    The article presents discussion of basic hypotheses of pathogenesis of primary sclerosing cholangitis (PSC): genetically conditioned pathology, autoimmune pathology, result of inflammatory reaction in bile ducts, cholangiopathy. The authors presents a clinical case of monozygotic twins with association of PSC and nonspecific ulcerative colitis (NUC). The first twin had a severe course of PSC and mild course of NUC; he died due to bacterial complications of cholangitis. The second twin--patient B--had an opposite situation: severe course of NUC, while PSC was suspected only after determination of cholestasis biochemical markers. As soon as cholestasis was revealed, patients B was treated with Ursofalk and Budenofalk (2001). He received Salofalk as a remedy of basic therapy for NUC. Repeated liver biopsy (2005) showed no progression of PSC, but there were present minimal biochemical signs of cholestasis. So, it is necessary to investigate the first degree relatives of patients with PSC. The timely administered treatment in some cases gives the possibility of the control of the disease course.

  8. Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing

    Institute of Scientific and Technical Information of China (English)

    Nan Lyu; Li-Li Guan; Hong Ma; Xi-Jin Wang; Bao-Ming Wu; Fan-Hong Shang; Dan Wang

    2016-01-01

    Background:Schizophrenia (SCZ) is a severe,debilitating,and complex psychiatric disorder with multiple causative factors.An increasing number of studies have determined that rare variations play an important role in its etiology.A somatic mutation is a rare form of genetic variation that occurs at an early stage of embryonic development and is thought to contribute substantially to the development of SCZ.The aim of the study was to explore the novel pathogenic somatic single nucleotide variations (SNVs) and somatic insertions and deletions (indels) of SCZ.Methods:One Chinese family with a monozygotic (MZ) twin pair discordant for SCZ was included.Whole exome sequencing was performed in the co-twin and their parents.Rigorous filtering processes were conducted to prioritize pathogenic somatic variations,and all identified SNVs and indels were further confirmed by Sanger sequencing.Results:One somatic SNV and two somatic indels were identified after rigorous selection processes.However,none was validated by Sanger sequencing.Conclusions:This study is not alone in the failure to identify pathogenic somatic variations in MZ twins,suggesting that exonic somatic variations are extremely rare.Further efforts are warranted to explore the potential genetic mechanism of SCZ.

  9. Epigenetic Variation in Monozygotic Twins: A Genome-Wide Analysis of DNA Methylation in Buccal Cells

    Directory of Open Access Journals (Sweden)

    Jenny van Dongen

    2014-05-01

    Full Text Available DNA methylation is one of the most extensively studied epigenetic marks in humans. Yet, it is largely unknown what causes variation in DNA methylation between individuals. The comparison of DNA methylation profiles of monozygotic (MZ twins offers a unique experimental design to examine the extent to which such variation is related to individual-specific environmental influences and stochastic events or to familial factors (DNA sequence and shared environment. We measured genome-wide DNA methylation in buccal samples from ten MZ pairs (age 8–19 using the Illumina 450k array and examined twin correlations for methylation level at 420,921 CpGs after QC. After selecting CpGs showing the most variation in the methylation level between subjects, the mean genome-wide correlation (rho was 0.54. The correlation was higher, on average, for CpGs within CpG islands (CGIs, compared to CGI shores, shelves and non-CGI regions, particularly at hypomethylated CpGs. This finding suggests that individual-specific environmental and stochastic influences account for more variation in DNA methylation in CpG-poor regions. Our findings also indicate that it is worthwhile to examine heritable and shared environmental influences on buccal DNA methylation in larger studies that also include dizygotic twins.

  10. Influence of intrauterine and extrauterine growth on neurodevelopmental outcome of monozygotic twins

    Directory of Open Access Journals (Sweden)

    R.K. Reolon

    2008-08-01

    Full Text Available There have been indications that intrauterine and early extrauterine growth can influence childhood mental and motor function. The objective of the present study was to evaluate the influence of intrauterine growth restriction and early extrauterine head growth on the neurodevelopmental outcome of monozygotic twins. Thirty-six monozygous twin pairs were evaluated at the corrected age of 12 to 42 months. Intrauterine growth restriction was quantified using the fetal growth ratio. The effects of birth weight ratio, head circumference at birth and current head circumference on mental and motor outcomes were estimated using mixed-effect linear regression models. Separate estimates of the between (interpair and within (intrapair effects of each measure on development were thus obtained. Neurodevelopment was assessed with the Bayley Scales of Infant Development, 2nd edition, by a psychologist blind to the exposure. A standardized neurological examination was performed by a neuropediatrician who was unaware of the exposures under investigation. After adjustment, birth weight ratio and head circumference at birth were not associated with motor or mental outcomes. Current head circumference was associated with mental but not with motor outcomes. Only the intrapair twin effect was significant. An increase of 1 cm in current head circumference of one twin compared with the other was associated with 3.2 points higher in Mental Developmental Index (95%CI = 1.06-5.32; P < 0.03. Thus, no effect of intrauterine growth was found on cognition and only postnatal head growth was associated with cognition. This effect was not shared by the co-twin.

  11. Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.

    Science.gov (United States)

    Graves, T D; Rajakulendran, S; Zuberi, S M; Morris, H R; Schorge, S; Hanna, M G; Kullmann, D M

    2010-07-27

    Episodic ataxia type 1 (EA1) is a monogenic channelopathy caused by mutations of the potassium channel gene KCNA1. Affected individuals carrying the same mutation can exhibit considerable variability in the severity of ataxia, neuromyotonia, and other associated features. We investigated the phenotypic heterogeneity of EA1 in 2 sets of identical twins to determine the contribution of environmental factors to disease severity. One of the mutations was also found in a distantly related family, providing evidence of the influence of genetic background on the EA1 phenotype. We evaluated 3 families with an EA1 phenotype, 2 of which included monozygotic twins. We sequenced the KCNA1 gene and studied the biophysical consequences of the mutations in HEK cells. We identified a new KCNA1 mutation in each pair of twins. Both pairs reported striking differences in the clinical severity of symptoms. The F414S mutation identified in one set of twins also occurred in a distantly related family in which seizures complicated the EA1 phenotype. The other twins had an R307C mutation, the first EA1 mutation to affect an arginine residue in the voltage-sensor domain. Both mutants when expressed exerted a dominant-negative effect on wild-type channels. These results broaden the range of KCNA1 mutations and reveal an unexpectedly large contribution of nongenetic factors to phenotypic variability in EA1. The occurrence of epilepsy in 1 of 2 families with the F414S mutation suggests an interplay of KCNA1 with other genetic factors.

  12. Somatosensory Brain Function and Gray Matter Regional Volumes Differ According to Exercise History: Evidence from Monozygotic Twins.

    Science.gov (United States)

    Hautasaari, Pekka; Savić, Andrej M; Loberg, Otto; Niskanen, Eini; Kaprio, Jaakko; Kujala, Urho M; Tarkka, Ina M

    2017-01-01

    Associations between long-term physical activity and cortical function and brain structure are poorly known. Our aim was to assess whether brain functional and/or structural modulation associated with long-term physical activity is detectable using a discordant monozygotic male twin pair design. Nine monozygotic male twin pairs were carefully selected for an intrapair difference in their leisure-time physical activity of at least three years duration (mean age 34 ± 1 years). We registered somatosensory mismatch response (SMMR) in EEG to electrical stimulation of fingers and whole brain MR images. We obtained exercise history and measured physical fitness and body composition. Equivalent electrical dipole sources of SMMR as well as gray matter (GM) voxel counts in regions of interest indicated by source analysis were evaluated. SMMR dipolar source strengths differed between active and inactive twins within twin pairs in postcentral gyrus, medial frontal gyrus and superior temporal gyrus and in anterior cingulate (AC) GM voxel counts differed similarly. Compared to active twins, their inactive twin brothers showed greater dipole strengths in short periods of the deviant-elicited SMMR and larger AC GM voxel counts. Stronger activation in early unattended cortical processing of the deviant sensory signals in inactive co-twins may imply less effective gating of somatosensory information in inactive twins compared to their active brothers. Present findings indicate that already in 30's long-term physical activity pattern is linked with specific brain indices, both in functional and structural domains.

  13. Monozygotic Twin Pregnancy Associated with In Vitro Fertilization: Report and Revision of Three Cases Presented in a Clinic at 10,925 Feet Above Sea Level.

    Science.gov (United States)

    Tominaga, Luis Vargas; Cáceres, Ricardo Pella; Lechuga, Alberto Vargas; Durán, Livia Bartolo; Vargas, Mariela Serrano

    2015-08-01

    3 cases of monozygotic twin pregnancies associated with IVF presented at Centro de Fertilidad y Ginecología del Sur. In this study, we describe the cases and review the literature, noting possible related factors.

  14. [Neonatal expression of beta-thalassemia trait associated with hereditary spherocytosis in two monozygotic twins].

    Science.gov (United States)

    Ben Hamouda, H; Mahjoub, B; Soua, H; Laradi, S; Miled, A; Sfar, M T

    2017-02-01

    The beta-thalassemia trait is a heterozygous beta-thalassemia characterized by a partial deficiency of the synthesis of beta-globin chains of hemoglobin. It is usually asymptomatic and the diagnosis is often made on the occasion of the completion of a systematic blood count or a family survey. Clinical expression during the neonatal period is impossible and its association with hereditary spherocytosis is common. We report two monozygotic twins who, on the 3rd day of life, presented intense jaundice, unconjugated bilirubin associated with anemia, without hepatosplenomegaly. Laboratory tests found nonimmune hemolytic anemia with microcytosis and hypochromia justifying iterative blood transfusions. The etiological investigation found heterozygous beta-thalassemia associated with hereditary spherocytosis. The family investigation and molecular analysis objectified the beta-thalassemic mutation IVS1nt110 (G→A) in the heterozygous state in the twins, the father, the mother, and in one of the two brothers. With any nonimmune hemolytic anemia in newborns, the etiological investigation should be systematic for early diagnosis and to plan appropriate treatment.

  15. Cedar Pollen Aggravates Atopic Dermatitis in Childhood Monozygotic Twin Patients with Allergic Rhino Conjunctivitis

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    Yukako Murakami

    2011-01-01

    Full Text Available We report a case of 7-year-old monozygotic twin patients with atopic dermatitis. The HLA haplotypes were HLA A2, A11, B27, B61, DR1, and DR4. Both serum IgE levels and cedar pollen radioallergosorbent test (RAST scores were high in the twins (elder/younger sister: IgE: 5170/3980 IU/ml and Japansese cedar pollen: >100/64.0 in contrast to low mite and food RAST scores (Dermatophagoides Pterygonium; 0.59/0.4 and egg white 9.24/4.6. The patients showed positive immediate (20 min in both sisters and delayed (24 hours in elder sister, 24, 48, 72 hours in younger sister reactions to a scratch test with Japanese cedar pollen. Skin lesions on the face were aggravated and extended to the trunk and extremities during the Japanese cedar pollen season and gradually subsided in summer. Oral provocation with egg white or cow milk showed no exacerbations, and topical corticosteroid did not improve the eczema. In contrast, successful protection from severe scratching behaviors was achieved by use of topical anti-allergic eye drops and wearing nightgowns made by the mother.

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

    Science.gov (United States)

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

    1997-01-01

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

  17. Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.

    Science.gov (United States)

    Kim, Se Jin; Ko, Jung Min; Shin, Seung Han; Kim, Ee-Kyung; Kim, Han-Suk; Lee, Kyung-A

    2017-03-01

    Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously. Generalized oozing erosion of the entire skin is the main clinical feature, which leads to excessive transcutaneous fluid loss and neonatal death. Histopathologically, this disorder is classified as a suprabasal subtype of epidermolysis bullosa simplex. In this study, we report for the first time in Korea on monozygotic twins with LAEB caused by two novel nonsense mutations in the DSP gene. Both of the twins exhibited severe and rapid progressive whole body skin erosion, and they died shortly after birth because of multiorgan failure followed by excessive fluid loss. © 2017 by the Association of Clinical Scientists, Inc.

  18. Gray and white matter volume abnormalities in monozygotic and same-gender dizygotic twins discordant for schizophrenia

    DEFF Research Database (Denmark)

    Hilshoff, Hilleke E.; Brans, Rachel G. H.; van Haren, Neeltje E. M.;

    2004-01-01

    BACKGROUND: Whole brain tissue volume decreases in schizophrenia have been related to both genetic risk factors and disease-related (possibly nongenetic) factors; however, whether genetic and environmental risk factors in the brains of patients with schizophrenia are differentially reflected in g...... matter volume are related to environmental risk factors. Study of genes involved in the (maintenance) of white matter structures may be particularly fruitful in schizophrenia......BACKGROUND: Whole brain tissue volume decreases in schizophrenia have been related to both genetic risk factors and disease-related (possibly nongenetic) factors; however, whether genetic and environmental risk factors in the brains of patients with schizophrenia are differentially reflected...... in gray or white matter volume change is not known. METHODS: Magnetic resonance imaging (1.5 T) brain scans of 11 monozygotic and 11 same-gender dizygotic twin pairs discordant for schizophrenia were acquired and compared with 11 monozygotic and 11 same-gender dizygotic healthy control twin pairs. RESULTS...

  19. Comparison of sequencing based CNV discovery methods using monozygotic twin quartets.

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    Marc-André Legault

    Full Text Available The advent of high throughput sequencing methods breeds an important amount of technical challenges. Among those is the one raised by the discovery of copy-number variations (CNVs using whole-genome sequencing data. CNVs are genomic structural variations defined as a variation in the number of copies of a large genomic fragment, usually more than one kilobase. Here, we aim to compare different CNV calling methods in order to assess their ability to consistently identify CNVs by comparison of the calls in 9 quartets of identical twin pairs. The use of monozygotic twins provides a means of estimating the error rate of each algorithm by observing CNVs that are inconsistently called when considering the rules of Mendelian inheritance and the assumption of an identical genome between twins. The similarity between the calls from the different tools and the advantage of combining call sets were also considered.ERDS and CNVnator obtained the best performance when considering the inherited CNV rate with a mean of 0.74 and 0.70, respectively. Venn diagrams were generated to show the agreement between the different algorithms, before and after filtering out familial inconsistencies. This filtering revealed a high number of false positives for CNVer and Breakdancer. A low overall agreement between the methods suggested a high complementarity of the different tools when calling CNVs. The breakpoint sensitivity analysis indicated that CNVnator and ERDS achieved better resolution of CNV borders than the other tools. The highest inherited CNV rate was achieved through the intersection of these two tools (81%.This study showed that ERDS and CNVnator provide good performance on whole genome sequencing data with respect to CNV consistency across families, CNV breakpoint resolution and CNV call specificity. The intersection of the calls from the two tools would be valuable for CNV genotyping pipelines.

  20. Differential parenting and risk for psychopathology: a monozygotic twin difference approach.

    Science.gov (United States)

    Long, E C; Aggen, S H; Gardner, C; Kendler, K S

    2015-10-01

    Consistent and non-specific associations have been found between parenting style and major depression, anxiety disorders, and externalizing behavior. Although often considered part of twins' shared environment, parenting can also be conceptualized as non-shared environment. Non-shared environmental influences have important effects on development but are difficult to test and sort out because of the possible confounding effects of gene-environment interactions and evocative gene-environment correlations. The monozygotic (MZ) differences approach is one way to analytically investigate non-shared environment. The aim of the present study is to use the MZ differences approach to investigate the relationship between differential parenting among 1303 twin pairs (mean age 36.69 ± 8.56) and differences in total symptom counts of major depression (MD), generalized anxiety disorder (GAD), conduct disorder (CD), and anti-social behavior (ASB) during adulthood. Although effect sizes tended to be small, a number of results were significantly different from zero. Perceived differences in parental coldness was positively associated with internalizing disorders. Differences in protectiveness were negatively associated with MD, GAD, and ASB. Differences in authoritarianism were positively associated with MD and CD, but negatively associated with ASB. Perceived differences in parenting style are associated with differences in MD, GAD, CD, and ASB outcomes in a sample of MZ twins. Despite the lack of a basis for making causal inferences about parenting style and psychopathology, these results are suggestive of such a relationship and show that non-shared environmental influence of parenting does in some cases significantly predict adult psychopathology.

  1. Genome-wide analysis of DNA methylation, copy number variation, and gene expression in monozygotic twins discordant for primary biliary cirrhosis

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    Carlo eSelmi

    2014-03-01

    Full Text Available Primary biliary cirrhosis (PBC is an uncommon autoimmune disease with a homogeneous clinical phenotype that reflects incomplete disease concordance in monozygotic (MZ twins. We have taken advantage of a unique collection consisting of genomic DNA and mRNA from peripheral blood cells of female MZ twins (n=3 sets and sisters of similar age (n=8 pairs discordant for disease. We performed a genome-wide study to investigate differences in (i DNA methylation (using a custom tiled 4-plex array containing tiled 50-mers 19,084 randomly chosen methylation sites, (ii copy number variation (CNV (with a chip including markers derived from the 1000 Genomes Project, all three HapMap phases, and recently published studies, and/or (iii gene expression (by whole-genome expression arrays. Based on the results obtained from these three approaches we utilized quantitative PCR to compare the expression of candidate genes. Importantly, our data support consistent differences in discordant twins and siblings for the (i methylation profiles of 60 gene regions, (ii CNV of 10 genes, and (iii the expression of 2 interferon-dependent genes. Quantitative PCR analysis showed that 17 of these genes are differentially expressed in discordant sibling pairs. In conclusion, we report that MZ twins and sisters discordant for PBC manifest particular epigenetic differences and highlight the value of the epigenetic study of twins.

  2. Discordant tooth agenesis and peg-shaped in a pair of monozygotic twins: Clinical and molecular study

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    Lívia Azeredo Alves Antunes

    2013-01-01

    Full Text Available The present report aimed to study an uncommon case of a pair of twins that presented a discordant dental phenotype. Family investigation, clinical, radiographic examination and molecular analysis were performed in both girls. Molecular analysis confirmed the monozygosity by deoxyribonucleic acid chip technology. One twin presented tooth agenesis in left upper lateral incisor and peg-shaped on the contra lateral side while the other twin had no dental alterations. The dental casts study employed digital caliper to compare morphological dimensions and showed alteration only in peg-shaped tooth. In conclusion, this study provide support that one or more mutated gene could cause discordances in dental phenotype in these monozygotic twins.

  3. Associations of Mother's and Father's Parenting Practices with Children's Observed Social Reticence in a Competitive Situation: A Monozygotic Twin Difference Study

    Science.gov (United States)

    Guimond, Fanny-Alexandra; Brendgen, Mara; Forget-Dubois, Nadine; Dionne, Ginette; Vitaro, Frank; Tremblay, Richard E.; Boivin, Michel

    2012-01-01

    This study used the monozygotic (MZ) twin difference method to examine whether the unique environmental effects of maternal and paternal overprotection and hostility at the age of 30 months predict twins' observed social reticence in a competitive situation in kindergarten, while controlling for the effect of family-wide influences, including…

  4. Generalized Arterial Calcification in a Recipient Twin: Discordant Fetal Hemodynamics Result in Differing Phenotypes in Monozygotic Twins with an ABCC6 Mutation.

    Science.gov (United States)

    Votava-Smith, Jodie K; Pitukcheewanont, Pisit; Randolph, Linda M; Chmait, Ramen H

    2017-01-01

    Recipients of the twin-twin transfusion syndrome (TTTS) often develop cardiac manifestations, but arterial calcification has rarely been reported. Generalized arterial calcification of infancy (GACI) is a genetic disorder with high infantile mortality. We report the case of a TTTS recipient with moderate cardiomyopathy at diagnosis who developed progressive calcification of the pulmonary arteries and aorta after successful in utero laser therapy. Postnatally, both twins were diagnosed with a heterozygous ABCC6 gene mutation associated with GACI. The recipient had progressive supravalvular pulmonary and aortic stenosis, was treated with bisphosphonate therapy, and successfully underwent cardiac surgery at 4 months of age. The donor twin with the same mutation remained phenotypically normal at 15 months of age. This case illustrates monozygotic fetuses with discordant in utero hemodynamics, with subsequent development of phenotypic differences. TTTS recipients with arterial calcifications should undergo genetic testing for GACI. © 2016 S. Karger AG, Basel.

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

    Science.gov (United States)

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

    2010-10-01

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

  6. Physical development and cognitive performance in a monozygotic twins for biliary atresia: Report of a case and literature reviewing

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    Yang Chen

    2016-08-01

    Full Text Available A case of monozygotic twins, one of whom suffered from biliary atresia and the other one was apparently healthy, is described herein. Children with biliary atresia appear to be vulnerable to developmental lags in the physical and cognitive performance, due to malnutrition and deteriorated liver function. In our case where the child with biliary atresia, who underwent a successful kasai operation, has achieved comparable growth development and cognitive performance in comparision with her sister, which suggest that the early diagnosis and timly kasai operation could allow children with biliary artesia to grow well in the short-term following time.

  7. Gray and white matter density changes in monozygotic and same-sex dizygotic twins discordant for schizophrenia using voxel-based morphometry

    DEFF Research Database (Denmark)

    Hulshoff Pol, HE; Schnack, HG; Mandl, RC

    2006-01-01

    best reflect the genetic and environmental risk factors in the brains of patients with schizophrenia remains unresolved. 1.5-T MRI brain scans of 11 monozygotic and 11 same-sex dizygotic twin-pairs discordant for schizophrenia were compared to 11 monozygotic and 11 same-sex dizygotic healthy control...... twin-pairs using voxel-based morphometry. Linear regression analysis was done in each voxel for the average and difference in gray and white matter density separately, in each twin-pair, with group (discordant, healthy) and zygosity (monozygotic, dizygotic) as between subject variables, and age, sex...... and handedness as covariates. The t-maps (critical threshold value mid R:tmid R: > 6.0, P

  8. Idiopathic intracranial hypertension in female homozygous twins.

    OpenAIRE

    Fujiwara, S; Sawamura, Y; Kato, T.; Abe, H.; Katusima, H

    1997-01-01

    The authors report on female homozygous twins with idiopathic intracranial hypertension. At the age of 12 years, both twins simultaneously developed visual disturbances with photophobia. At the age of 19 years, an ophthalmological examination disclosed papilloedema in both their eyes. At the age of 22 years, a lumbar puncture showed raised CSF pressure over (200 mm H2O) in both twins. Their neurological and radiological examinations were extremely similar; both of them had severely impaired v...

  9. Differentially methylated DNA regions in monozygotic twin pairs discordant for rheumatoid arthritis.An epigenome - wide study.

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    Anders Jørgen Svendsen

    2016-11-01

    Full Text Available Objectives: In an explorative epigenome-wide association study (EWAS to search for gene independent, differentially methylated DNA positions (DMPs and regions (DMRs associated with rheumatoid arthritis (RA by studying monozygotic (MZ twin pairs discordant for rheumatoid arthritis.Methods: Genomic DNA was isolated from whole blood samples from 28 monozygotic (MZ twin pairs discordant for RA. DNA methylation was measured using the HumanMethylation450 BeadChips. Smoking, anti-cyclic citrullinated peptide antibodies and immunosuppressive treatment were included as covariates. Pathway analysis was performed using GREAT.Results: Smoking was significantly associated with hypomethylation of a DMR overlapping the promoter region of the RNF5 and the AGPAT1, which are implicated in inflammation and autoimmunity, whereas DMARD treatment induced hypermethylation of the same region. Additionally, the promotor region of both S100A6 and EFCAB4B were hypomethylated and both genes have previously been associated with RA. We replicated several candidate genes identified in a previous EWAS in treatment naïve RA singletons. Gene set analysis indicated the involvement of immunologic signatures and cancer-related pathways in RA.Conclusion: We identified several differentially methylated regions associated with RA which may represent environmental effects or consequences of the disease and plausible biological pathways pertinent to the pathogenesis of rheumatoid arthritis

  10. Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder

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    Marina Laplana

    2014-01-01

    Full Text Available Autism spectrum disorder (ASD is a highly heritable disease (~0.9 with a complex genetic etiology. It is initially characterized by altered cognitive ability which commonly includes impaired language and communication skills as well as fundamental deficits in social interaction. Despite the large amount of studies described so far, the high clinical diversity affecting the autism phenotype remains poorly explained. Recent studies suggest that rare genomic variations, in particular copy number variation (CNV, may account for a significant proportion of the genetic basis of ASD. The use of disease-discordant monozygotic twins represents a powerful strategy to identify de novo and inherited CNV in the disorder. Here we present the results of a comparative genome hybridization (CGH analysis with a pair of monozygotic twins affected of ASD with significant differences in their clinical manifestations that specially affect speech language impairment and communication skills. Array CGH was performed in three different tissues: blood, saliva, and hair follicle, in an attempt to identify germinal and somatic CNV regions that may explain these differences. Our results argue against a role of large CNV rearrangements as a molecular etiology of the observed differences. This forwards future research to explore de novo point mutation and epigenomic alterations as potential explanations of the observed clinical differences.

  11. A monozygotic twin pair with β-thalassemia carrier status in a Dudh Kharia tribal family of Orissa

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    Balgir R

    2007-01-01

    identical β -thalassemia (trait genotypes with identical clinical manifestations and hematological profile of the twin sons under similar environmental conditions, hence they were labeled as identical monozygotic twins. Conclusions: It is a rare occasion when a single pregnancy carries either one or two abnormal genotypes at a time in a womb in human beings. Monozygotic twins are genetically alike and provide appraisal of the expression of identical genotype under the different environmental conditions.

  12. Increased prevalence of congenital heart defects in monozygotic and dizygotic twins

    DEFF Research Database (Denmark)

    Herskind, Anne Maria; Almind Pedersen, Dorthe; Christensen, Kaare

    2013-01-01

    Smaller studies and many case series reports indicate that congenital heart defects may be more common in monochorionic twins than in dichorionic twins and singletons.......Smaller studies and many case series reports indicate that congenital heart defects may be more common in monochorionic twins than in dichorionic twins and singletons....

  13. Differences in frontal and limbic brain activation in a small sample of monozygotic twin pairs discordant for severe stressful life events

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    Detre A. Godinez

    2016-12-01

    Full Text Available Monozygotic twin pairs provide a valuable opportunity to control for genetic and shared environmental influences while studying the effects of nonshared environmental influences. The question we address with this design is whether monozygotic twins selected for discordance in exposure to severe stressful life events during development (before age 18 demonstrate differences in brain activation during performance of an emotional word-face Stroop task. In this study, functional magnetic resonance imaging was used to assess brain activation in eighteen young adult twins who were discordant in exposure to severe stress such that one twin had two or more severe events compared to their control co-twin who had no severe events. Twins who experienced higher levels of stress during development, compared to their control co-twins with lower stress, exhibited significant clusters of greater activation in the ventrolateral and medial prefrontal cortex, basal ganglia, and limbic regions. The control co-twins showed only the more typical recruitment of frontoparietal regions thought to be important for executive control of attention and maintenance of task goals. Behavioral performance was not significantly different between twins within pairs, suggesting the twins with stress recruited additional neural resources associated with affective processing and updating working memory when performing at the same level. This study provides a powerful glimpse at the potential effects of stress during development while accounting for shared genetic and environmental influences.

  14. Genome-wide blood DNA methylation alterations at regulatory elements and heterochromatic regions in monozygotic twins discordant for obesity and liver fat

    OpenAIRE

    Ollikainen, M; Ismail, K.; Gervin, Kristina; Harris, Jennifer; Lyle, Robert

    2015-01-01

    Background: The current epidemic of obesity and associated diseases calls for swift actions to better understand the mechanisms by which genetics and environmental factors affect metabolic health in humans. Monozygotic (MZ) twin pairs showing discordance for obesity suggest that epigenetic influences represent one such mechanism. We studied genome-wide leukocyte DNA methylation variation in 30 clinically healthy young adult MZ twin pairs discordant for body mass index (BMI; average within-pai...

  15. iPSC-Derived Dopamine Neurons Reveal Differences between Monozygotic Twins Discordant for Parkinson’s Disease

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    Chris M. Woodard

    2014-11-01

    Full Text Available Parkinson’s disease (PD has been attributed to a combination of genetic and nongenetic factors. We studied a set of monozygotic twins harboring the heterozygous glucocerebrosidase mutation (GBA N370S but clinically discordant for PD. We applied induced pluripotent stem cell (iPSC technology for PD disease modeling using the twins’ fibroblasts to evaluate and dissect the genetic and nongenetic contributions. Utilizing fluorescence-activated cell sorting, we obtained a homogenous population of “footprint-free” iPSC-derived midbrain dopaminergic (mDA neurons. The mDA neurons from both twins had ∼50% GBA enzymatic activity, ∼3-fold elevated α-synuclein protein levels, and a reduced capacity to synthesize and release dopamine. Interestingly, the affected twin’s neurons showed an even lower dopamine level, increased monoamine oxidase B (MAO-B expression, and impaired intrinsic network activity. Overexpression of wild-type GBA and treatment with MAO-B inhibitors normalized α-synuclein and dopamine levels, suggesting a combination therapy for the affected twin.

  16. The relationship between Hippocampal asymmetry and working memory processing in combat-related PTSD – a monozygotic twin study

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    Hall Timothy

    2012-12-01

    Full Text Available Abstract Background PTSD is associated with reduction in hippocampal volume and abnormalities in hippocampal function. Hippocampal asymmetry has received less attention, but potentially could indicate lateralised differences in vulnerability to trauma. The P300 event-related potential component reflects the immediate processing of significant environmental stimuli and has generators in several brain regions including the hippocampus. P300 amplitude is generally reduced in people with PTSD. Methods Our study examined hippocampal volume asymmetry and the relationship between hippocampal asymmetry and P300 amplitude in male monozygotic twins discordant for Vietnam combat exposure. Lateralised hippocampal volume and P300 data were obtained from 70 male participants, of whom 12 had PTSD. We were able to compare (1 combat veterans with current PTSD; (2 their non-combat-exposed co-twins; (3 combat veterans without current PTSD and (4 their non-combat-exposed co-twins. Results There were no significant differences between groups in hippocampal asymmetry. There were no group differences in performance of an auditory oddball target detection task or in P300 amplitude. There was a significant positive correlation between P300 amplitude and the magnitude of hippocampal asymmetry in participants with PTSD. Conclusions These findings suggest that greater hippocampal asymmetry in PTSD is associated with a need to allocate more attentional resources when processing significant environmental stimuli.

  17. The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age.

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    Jacqueline A L MacArthur

    2014-03-01

    Full Text Available Nonallelic homologous recombination (NAHR between highly similar duplicated sequences generates chromosomal deletions, duplications and inversions, which can cause diverse genetic disorders. Little is known about interindividual variation in NAHR rates and the factors that influence this. We estimated the rate of deletion at the CMT1A-REP NAHR hotspot in sperm DNA from 34 male donors, including 16 monozygotic (MZ co-twins (8 twin pairs aged 24 to 67 years old. The average NAHR rate was 3.5 × 10(-5 with a seven-fold variation across individuals. Despite good statistical power to detect even a subtle correlation, we observed no relationship between age of unrelated individuals and the rate of NAHR in their sperm, likely reflecting the meiotic-specific origin of these events. We then estimated the heritability of deletion rate by calculating the intraclass correlation (ICC within MZ co-twins, revealing a significant correlation between MZ co-twins (ICC = 0.784, p = 0.0039, with MZ co-twins being significantly more correlated than unrelated pairs. We showed that this heritability cannot be explained by variation in PRDM9, a known regulator of NAHR, or variation within the NAHR hotspot itself. We also did not detect any correlation between Body Mass Index (BMI, smoking status or alcohol intake and rate of NAHR. Our results suggest that other, as yet unidentified, genetic or environmental factors play a significant role in the regulation of NAHR and are responsible for the extensive variation in the population for the probability of fathering a child with a genomic disorder resulting from a pathogenic deletion.

  18. Impact of two common polymorphisms in the PPARgamma gene on glucose tolerance and plasma insulin profiles in monozygotic and dizygotic twins

    DEFF Research Database (Denmark)

    Poulsen, Pernille; Andersen, Gitte; Fenger, Mogens

    2003-01-01

    The Pro12Ala polymorphism in the PPARgamma2 gene has been associated with reduced risk of type 2 diabetes and insulin resistance. Recently, an association between dizygotic twinning and PPARgamma gene polymorphisms has been proposed. We investigated the phenotypic appearance of the two...... polymorphisms (Pro12Ala and exon 6 C-->T) in PPARgamma among elderly twins (207 monozygotic [MZ] and 342 dizygotic [DZ]) and evaluated whether they could explain previously reported differences in plasma glucose and insulin profiles among MZ and DZ twins. We demonstrated a significant impact of the Pro12Ala...

  19. Impact of two common polymorphisms in the PPARgamma gene on glucose tolerance and plasma insulin profiles in monozygotic and dizygotic twins: thrifty genotype, thrifty phenotype, or both?

    DEFF Research Database (Denmark)

    Poulsen, Pernille; Andersen, Gitte; Fenger, Mogens

    2003-01-01

    The Pro12Ala polymorphism in the PPARgamma2 gene has been associated with reduced risk of type 2 diabetes and insulin resistance. Recently, an association between dizygotic twinning and PPARgamma gene polymorphisms has been proposed. We investigated the phenotypic appearance of the two...... polymorphisms (Pro12Ala and exon 6 C-->T) in PPARgamma among elderly twins (207 monozygotic [MZ] and 342 dizygotic [DZ]) and evaluated whether they could explain previously reported differences in plasma glucose and insulin profiles among MZ and DZ twins. We demonstrated a significant impact of the Pro12Ala...

  20. Genome-wide analysis of DNA methylation differences in muscle and fat from monozygotic twins discordant for type 2 diabetes.

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    Rasmus Ribel-Madsen

    Full Text Available BACKGROUND: Monozygotic twins discordant for type 2 diabetes constitute an ideal model to study environmental contributions to type 2 diabetic traits. We aimed to examine whether global DNA methylation differences exist in major glucose metabolic tissues from these twins. METHODOLOGY/PRINCIPAL FINDINGS: Skeletal muscle (n = 11 pairs and subcutaneous adipose tissue (n = 5 pairs biopsies were collected from 53-80 year-old monozygotic twin pairs discordant for type 2 diabetes. DNA methylation was measured by microarrays at 26,850 cytosine-guanine dinucleotide (CpG sites in the promoters of 14,279 genes. Bisulfite sequencing was applied to validate array data and to quantify methylation of intergenic repetitive DNA sequences. The overall intra-pair variation in DNA methylation was large in repetitive (LINE1, D4Z4 and NBL2 regions compared to gene promoters (standard deviation of intra-pair differences: 10% points vs. 4% points, P<0.001. Increased variation of LINE1 sequence methylation was associated with more phenotypic dissimilarity measured as body mass index (r = 0.77, P = 0.007 and 2-hour plasma glucose (r = 0.66, P = 0.03 whereas the variation in promoter methylation did not associate with phenotypic differences. Validated methylation changes were identified in the promoters of known type 2 diabetes-related genes, including PPARGC1A in muscle (13.9±6.2% vs. 9.0±4.5%, P = 0.03 and HNF4A in adipose tissue (75.2±3.8% vs. 70.5±3.7%, P<0.001 which had increased methylation in type 2 diabetic individuals. A hypothesis-free genome-wide exploration of differential methylation without correction for multiple testing identified 789 and 1,458 CpG sites in skeletal muscle and adipose tissue, respectively. These methylation changes only reached some percentage points, and few sites passed correction for multiple testing. CONCLUSIONS/SIGNIFICANCE: Our study suggests that likely acquired DNA methylation changes in skeletal muscle or adipose tissue gene

  1. Gêmeos monozigóticos: revelações do discurso familiar Monozygotic twins: hidden aspects of family speech

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    Naraí Lopez Barbetta

    2008-01-01

    Full Text Available OBJETIVO: Nas famílias de gêmeos monozigóticos, algumas práticas podem acompanhar o processo de gestação, nascimento e desenvolvimento dessas crianças. Inclui-se a escolha de roupas iguais ou com diferença apenas na cor, nomes com semelhanças fonéticas, rotinas parecidas quanto à alimentação e sono. O objetivo, aqui, foi acompanhar longitudinalmente uma família, analisando os pressupostos e práticas sociais manifestados discursivamente, a respeito da gemelaridade, a partir do diagnóstico da gestação gemelar de crianças monozigóticas, considerando-se, em especial, o desenvolvimento da linguagem e o processo de constituição da identidade de tais crianças. MÉTODOS: O trabalho pauta-se na abordagem naturalista/observacional, perspectiva histórico-cultural e no paradigma de natureza indiciária. Considerou-se os dados de oito entrevistas, vídeo-gravadas a cada três meses, a partir do diagnóstico da gestação gemelar monozigótica com uma família. Os dados foram analisados, considerando-se: a descoberta, escolha de nomes, vestuário, interação, rotina, linguagem e identidade. RESULTADOS: As categorias analisadas apareceram nos discursos coletados e revelaram a dificuldade familiar em assimilar a presença de gêmeos, que acabam sendo " dois vistos como um" . CONCLUSÕES: Os aspectos sociais envolvidos frente à semelhança são marcantes o suficiente para vencer a possibilidade de alteração no processo de desenvolvimento da linguagem e identidade dessas crianças. A Fonoaudiologia precisa incorporar à prática clínica, o acolhimento dessas famílias, com suas crenças e valores, para que as intervenções fonoaudiológicas, junto a essa população, sejam efetivas.PURPOSE: Families with monozygotic twin children have some typical practices which begin in early pregnancy and persist during the childhood, including wearing the same clothes and colors, choosing phonetically similar names and offering the same food and

  2. Associations between sleep habits and mental health status and suicidality in a longitudinal survey of monozygotic twin adolescents.

    Science.gov (United States)

    Matamura, Misato; Tochigi, Mamoru; Usami, Satoshi; Yonehara, Hiromi; Fukushima, Masako; Nishida, Atsushi; Togo, Fumiharu; Sasaki, Tsukasa

    2014-06-01

    Several epidemiological studies have indicated that there is a relationship between sleep habits, such as sleep duration, bedtime and bedtime regularity, and mental health status, including depression and anxiety in adolescents. However, it is still to be clarified whether the relationship is direct cause-and-effect or mediated by the influence of genetic and other traits, i.e. quasi-correlation. To examine this issue, we conducted a twin study using a total of 314 data for monozygotic twins from a longitudinal survey of sleep habits and mental health status conducted in a unified junior and senior high school (grades 7-12), located in Tokyo, Japan. Three-level hierarchical linear model analysis showed that both bedtime and sleep duration had significant associations with the Japanese version of the 12-item General Health Questionnaire (GHQ-12) score, suicidal thoughts and the experience of self-harm behaviours when genetic factors and shared environmental factors, which were completely shared between co-twins, were controlled for. These associations were statistically significant even after controlling for bedtime regularity, which was also associated significantly with the GHQ-12 score. These suggest that the associations between sleep habits and mental health status were still statistically significant after controlling for the influence of genetic and shared environmental factors of twins, and that there may be a direct cause-and-effect in the relationship in adolescents. Thus, late bedtime and short sleep duration could predict subsequent development of depression and anxiety, including suicidal or self-injury risk. This suggests that poor mental health status in adolescents might be improved by health education and intervention concerning sleep and lifestyle habits.

  3. Does the Environment Have an Enduring Effect on ADHD? A Longitudinal Study of Monozygotic Twin Differences in Children.

    Science.gov (United States)

    Livingstone, Luisa T; Coventry, William L; Corley, Robin P; Willcutt, Erik G; Samuelsson, Stefan; Olson, Richard K; Byrne, Brian

    2016-11-01

    Environmental factors play a key role in the development of Attention-Deficit/Hyperactivity Disorder (ADHD), but the long-term effects of these factors are still unclear. This study analyses data from 1024 monozygotic (identical) twins in Australia, the United States, and Scandinavia who were assessed for ADHD in Preschool, Kindergarten, Grade 1, and Grade 2. Differences within each twin pair were used as a direct measure of non-shared environmental effects. The Trait-State-Occasion (TSO) model developed by Cole et al. (Psychological Methods, 10, 3-20, 2005) was used to separate the non-shared environmental effects into stable factors, and transient factors that excluded measurement error. Stable factors explained, on average, 44 % and 39 % of the environmental variance in hyperactive-impulsive and inattentive symptoms, respectively. Transient effects explained the remaining 56 % and 60 % of variance. The proportion of stable variance was higher than expected based on previous research, suggesting promise for targeted interventions if future research identifies these stable risk factors.

  4. Metabolism of sex steroids is influenced by acquired adiposity-A study of young adult male monozygotic twin pairs.

    Science.gov (United States)

    Vihma, Veera; Naukkarinen, Jussi; Turpeinen, Ursula; Hämäläinen, Esa; Kaprio, Jaakko; Rissanen, Aila; Heinonen, Sini; Hakkarainen, Antti; Lundbom, Jesper; Lundbom, Nina; Mikkola, Tomi S; Tikkanen, Matti J; Pietiläinen, Kirsi H

    2017-09-01

    Obesity and ageing are associated with lower serum testosterone levels in men. How fat distribution or adipose tissue metabolism, independent of genetic factors and age, are related to sex steroid metabolism is less clear. We studied the associations between adiposity and serum sex hormone concentrations, and mRNA expression of genes regulating sex hormone metabolism in adipose tissue in young adult male monozygotic (MZ) twin pairs. The subjects [n=18 pairs; mean age, 32 years; individual body mass indexes (BMIs) 22-36kg/m(2)] included 9 male MZ twin pairs discordant for BMI [intra-pair difference (Δ) in BMI ≥3kg/m(2)]. Sex steroid concentrations were determined by liquid chromatography-tandem mass spectrometry, body composition by dual-energy X-ray absorptiometry and magnetic resonance imaging, and mRNA expressions from subcutaneous adipose tissue by Affymetrix. In BMI-discordant pairs (mean ΔBMI=5.9kg/m(2)), serum dihydrotestosterone (DHT) was lower [mean 1.9 (SD 0.7) vs. 2.4 (1.0) nmol/l, P=0.040] and mRNA expressions of DHT-inactivating AKR1C2 (P=0.021) and cortisol-producing HSD11B1 (P=0.008) higher in the heavier compared to the leaner co-twins. Serum free 17β-estradiol (E2) was higher [2.3 (0.5) vs. 1.9 (0.5) pmol/l, P=0.028], and in all twin pairs, serum E2 and estrone concentrations were higher in the heavier than in the leaner co-twins [107 (28) vs. 90 (22) pmol/l, P=0.006; and 123 (43) vs. 105 (27) pmol/l, P=0.025]. Within all twin pairs, i.e. independent of genetic effects and age, 1) the amount of subcutaneous fat inversely correlated with serum total and free testosterone, DHT, and sex hormone-binding globulin (SHBG) concentrations (Padiposity correlated positively with mRNA expressions of AKR1C2, HSD11B1, and aromatase in adipose tissue (Padiposity was associated with decreased serum DHT and increased estrogen concentrations, independent of genetic factors and age. The reduction of DHT could be linked to its increased degradation (by AKR1C2 and

  5. Danish cohort of monozygotic inflammatory bowel disease twins: Clinical characteristics and inflammatory activity

    Science.gov (United States)

    Moller, Frederik Trier; Knudsen, Lina; Harbord, Marcus; Satsangi, Jack; Gordon, Hannah; Christiansen, Lene; Christensen, Kaare; Jess, Tine; Andersen, Vibeke

    2016-01-01

    AIM: To describe the establishment of a Danish inflammatory bowel diseases (IBD) twin cohort with focus on concordance of treatment and inflammatory markers. METHODS: We identified MZ twins, likely to be discordant or concordant for IBD, by merging information from the Danish Twin Register and the National Patient Register. The twins were asked to provide biological samples, questionnaires, and data access to patient files and public registries. Biological samples were collected via a mobile laboratory, which allowed for immediate centrifugation, fractionation, and storage of samples. The mean time from collection of samples to storage in the -80 °C mobile freezer was less than one hour. The diagnoses where validated using the Copenhagen diagnostic criteria. RESULTS: We identified 159 MZ IBD twin pairs, in a total of 62 (39%) pairs both twins agreed to participate. Of the supposed 62 IBD pairs, the IBD diagnosis could be confirmed in 54 pairs. The cohort included 10 concordant pairs, whereof some were discordant for either treatment or surgery. The 10 concordant pairs, where both pairs suffered from IBD, included eight CD/CD pairs, one UC/UC pair and one UC/IBDU pair. The discordant pairs comprised 31 UC, 5 IBDU (IBD unclassified), and 8 CD discordant pairs. In the co-twins not affected by IBD, calprotectin was above 100 μg/g in 2 participants, and above 50 μg/g in a further 5 participants. CONCLUSION: The presented IBD twin cohorts are an excellent resource for bioinformatics studies with proper adjustment for disease-associated exposures including medication and inflammatory activity in the co-twins. PMID:27275097

  6. Are stressful life events causally related to the severity of obsessive-compulsive symptoms? A monozygotic twin difference study

    Science.gov (United States)

    Vidal-Ribas, P.; Stringaris, A.; Rück, C.; Serlachius, E.; Lichtenstein, P.; Mataix-Cols, D.

    2015-01-01

    Traumatic or stressful life events have long been hypothesized to play a role in causing or precipitating obsessive-compulsive symptoms but the impact of these environmental factors has rarely been investigated using genetically informative designs. We tested whether a wide range of retrospectively-reported stressful life events (SLEs) influence the lifetime presence and severity of obsessive-compulsive symptoms (OCS) in a large Swedish population-based cohort of 22,084 twins. Multiple regression models examined whether differences in SLEs within twin pairs were significantly associated with differences in OCS. In the entire sample (i.e., both monozygotic [MZ] and dizygotic twin pairs), two SLEs factors, “abuse and family disruption” and “sexual abuse”, were significantly associated with the severity of OCS even after controlling for depressive symptoms. Other SLEs factors were either not associated with OCS (“loss”, “non-sexual assault”) or were no longer associated with OCS after controlling for depression (“illness/injury”). Within MZ pair analyses, which effectively control for genetic and shared environmental effects, showed that only the “abuse and family disruption” factor remained independently related to within-pair differences in OCS severity, even after controlling for depressive symptoms. Despite being statistically significant, the magnitude of the associations was small; “abuse and family disruption” explained approximately 3% of the variance in OCS severity. We conclude that OCS are selectively associated with certain types of stressful life events. In particular, a history of interpersonal abuse, neglect and family disruption may make a modest but significant contribution to the severity of OCS. Further replication in longitudinal cohorts is essential before causality can be firmly established. PMID:25511316

  7. Heritability of refractive astigmatism: a population-based twin study among 63- to 75-year-old female twins.

    Science.gov (United States)

    Pärssinen, Olavi; Kauppinen, Markku; Kaprio, Jaakko; Koskenvuo, Markku; Rantanen, Taina

    2013-09-09

    To examine the heritability of refractive astigmatism in older women. Astigmatism was measured with an autorefractor in 88 monozygotic and 82 dizygotic female twin pairs aged 63 to 75 years. The prevalence and distribution of astigmatism and polar values J0 and J45 were estimated by standard statistical methods. Bivariate maximum likelihood model fitting was used to estimate genetic and environmental variance components using information from both eyes. Mean astigmatism of the more astigmatic eye was 0.93 diopters (D; SD ±0.58). Astigmatism of at least 0.25 D, 0.5 D, 0.75 D, or 1.0 D in either eye was present in 99.7%, 88.5%, 66.5%, and 46.2% of cases, respectively. The main direction of astigmatism was against the rule. The age-adjusted quantitative genetic modeling revealed that additive genetic effects accounted for 33.3% (95% confidence interval [CI], 21.9%-43.8%) of the total variance of astigmatism and for 18% (95% CI, 4%-31%) of the total variance of polar value J45 of both eyes (bivariate model), with the remaining variances due to nongenetic effects. There were no significant correlations between the twin pairs for polar value J0. In elderly female twins, additive genetic effects accounted for one-third of the variance of the amount of astigmatism and only a small fraction of the total variance of polar value J45.

  8. Isolated corneal pseudodendrites as the initial manifestation of tyrosinemia type II in monozygotic twins.

    Science.gov (United States)

    Kymionis, George D; Kankariya, Vardhaman P; Kontadakis, Georgios A; Ziakas, Nikolas G

    2012-05-08

    Fifteen-month-old twins presented with photophobia and bilateral corneal pseudodendrites, and tyrosinemia type II was suspected. Plasma tyrosine levels were elevated. After therapy with tyrosine-restricted diet, corneal lesions resolved. Bilateral pseudodendritic keratitis may be the initial or only manifestation of tyrosinemia type II.

  9. Prevalence of and Familial Influences on Purging Disorder in a Community Sample of Female Twins

    Science.gov (United States)

    Munn-Chernoff, Melissa A.; Keel, Pamela K.; Klump, Kelly L.; Grant, Julia D.; Bucholz, Kathleen K.; Madden, Pamela A. F.; Heath, Andrew C.; Duncan, Alexis E.

    2014-01-01

    Objective Purging Disorder (PD) was recently included as an Otherwise Specified Feeding or Eating Disorder (OSFED) in the DSM-5; however, limited information is available on its prevalence, and its etiology is unknown. Method Data from 1790 monozygotic and 1440 dizygotic European American female twins (age range = 18 – 29 years) from the Missouri Adolescent Female Twin Study were used to investigate prevalence and familial influences for PD. A structured clinical interview assessed lifetime DSM-IV criteria for eating disorders and PD. After adjustment for age, twin correlations and biometrical twin models were used to estimate familial (i.e., genetic plus shared environmental) influences on PD. Results One hundred and twenty one (3.77%; 95% CI: 3.14, 4.49) women met criteria for lifetime PD. Twin correlations suggested that genetic, shared environmental, and nonshared environmental factors influenced liability to PD. Nonshared environmental factors accounted for 56% [35%, 79%] of the variance in PD. Although familial effects accounted for a significant proportion of variance (44% [21%, 65%]), it was not possible to disentangle the independent contributions of additive genetic effects (20% [0%, 65%]) and shared environmental effects (24% [0%, 57%]). Discussion PD is a prevalent form of eating pathology. Familial factors are relevant to the development of PD but do not demonstrate the magnitude of heritable factors found for other eating disorders. PMID:25808399

  10. On the heritability of psoriatic arthritis. Disease concordance among monozygotic and dizygotic twins

    DEFF Research Database (Denmark)

    Pedersen, Ole Birger; Svendsen, Anders Jørgen; Ejstrup, Leif

    2008-01-01

    : This first twin study on PsA confirms that genes are important in the causation of psoriatic skin disease. Despite the limited statistical power, the almost identical concordance rates for PsA in MZ and DZ twins stresses the importance of continued search for non genetic effectors in PsA......., resulting in 36 complete pairs. A total of 1/10 MZ pairs and 1/26 DZ pairs were concordant for PsA, yielding a 6.2% difference in proportions (95% CI: -11%, 37%). 5/10 MZ pairs and 4/26 DZ pairs were concordant for psoriatic skin disease implying a 35% difference (95% CI: 2%, 60%, p

  11. Similar caries pattern in monozygotic twins: Role of nature and/or nurture

    OpenAIRE

    Anshula Deshpande; Neeraj Deshpande

    2012-01-01

    The present article attempts to relook at the role of genetics in the caries pattern in pediatric patients. Genetics exerts a major influence on initiation and progression of caries. Several investigators have studied the genetic aspects in humans using both twin studies and family pedigree approaches. The recent advances in molecular biology and the outcomes of the Human Genome Project can help to have innovative approaches to understand the etiology of this complex disease. A pair of 5-year...

  12. Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation

    DEFF Research Database (Denmark)

    Milman, Nils; Andersen, Claus B.; Hansen, Annette

    2006-01-01

    Blau syndrome is a hereditary granulomatous disease caused by mutations in the CARD15 gene that is diagnosed in children of young age with exanthema/erythema, arthritis/periarthritis and/or uveitis. We report two cases of Blau syndrome in Danish Caucasian monozygotic male twins, exhibiting...... a heterozygous de novo R334W mutation in codon 334 of CARD15. The patients were initially diagnosed as having sarcoidosis. In both twins, symptoms (exanthema, arthritis/periarthritis) started at 1 year of age, and were followed by uveitis at 7-10 years of age. There was no involvement of the lungs or other...... quality of life. At follow up at 20 years of age (after 2-5 years of infliximab treatment) the twins had an almost normal physical appearance and a normal psychomotoric development, indicating a favourable short-term prognosis of the disease. Blau syndrome has pathologic, clinical and therapeutic features...

  13. Microlitíase alveolar pulmonar em gêmeos univitelinos: relato de dois casos Pulmonary alveolar microlithiasis in monozygotic twins: report of two case

    Directory of Open Access Journals (Sweden)

    Sizenildo da Silva Figueirêdo

    2002-07-01

    Full Text Available Os autores apresentam dois casos de microlitíase alveolar pulmonar em gêmeos monozigóticos. Os principais achados obtidos em exames radiográficos e de tomografia computadorizada (técnica de alta resolução são enfatizados, com base em breve revisão literária.The authors report two cases of pulmonary alveolar microlithiasis affecting monozygotic twins. The main findings observed on plain x-ray films and high-resolution computed tomography are discussed and compared with data from a brief literature review.

  14. Monozygotic twin pairs discordant for Hashimoto's thyroiditis share a high proportion of thyroid peroxidase autoantibodies to the immunodominant region A. Further evidence for genetic transmission of epitopic "fingerprints"

    DEFF Research Database (Denmark)

    Brix, Thomas Heiberg; Hegedüs, Laszlo; Gardas, Andrzej;

    2011-01-01

    Thyroid peroxidase antibodies (TPOAbs) in patients with Hashimoto's thyroiditis (HT) predominantly react with two immunodominant regions (IDR-A, IDR-B). Theoretically, as shown for the level of TPOAbs, the autoantibody epitopic recognition of the IDRs could be under genetic control. To examine this......, we compared the distribution of TPOAb epitopic fingerprints between healthy monozygotic (MZ) co-twins and siblings to patients with clinically overt HT with a control group of euthyroid subjects, matched for sex and age, but without autoimmune thyroid disease (AITD) among their first-degree relatives...

  15. No clear genetic influences on the association between dyslexia and anxiety in a population-based sample of female twins.

    Science.gov (United States)

    Whitehouse, Andrew J O; Spector, Tim D; Cherkas, Lynn F

    2009-11-01

    Individuals with dyslexia are at an increased risk for anxiety disorders (e.g. generalized anxiety disorder, stress disorders, panic disorder). The extent to which this association is mediated by genetic and/or environmental influences is unclear. The current study explored the relationship between these two phenotypes using a large population-based twin sample. In total, 940 monozygotic and 903 dizygotic female twin pairs were included in the analyses. The presence of dyslexia and anxiety was determined by self-report of diagnosis by a health professional. Tetrachoric correlations confirmed an association between the two phenotypes, but suggested that there was no evidence for shared genetic risks. Bivariate twin modelling corroborated this finding and indicated the relationship between dyslexia and anxiety is mediated by shared environmental factors. Future research should seek to identifying the environmental factors that increase the vulnerability of individuals with dyslexia to emotional problems should be a priority for future research.

  16. Frequent extreme cold exposure and brown fat and cold-induced thermogenesis: a study in a monozygotic twin.

    Directory of Open Access Journals (Sweden)

    Maarten J Vosselman

    Full Text Available INTRODUCTION: Mild cold acclimation is known to increase brown adipose tissue (BAT activity and cold-induced thermogenesis (CIT in humans. We here tested the effect of a lifestyle with frequent exposure to extreme cold on BAT and CIT in a Dutch man known as 'the Iceman', who has multiple world records in withstanding extreme cold challenges. Furthermore, his monozygotic twin brother who has a 'normal' sedentary lifestyle without extreme cold exposures was measured. METHODS: The Iceman (subject A and his brother (subject B were studied during mild cold (13°C and thermoneutral conditions (31°C. Measurements included BAT activity and respiratory muscle activity by [18F]FDG-PET/CT imaging and energy expenditure through indirect calorimetry. In addition, body temperatures, cardiovascular parameters, skin perfusion, and thermal sensation and comfort were measured. Finally, we determined polymorphisms for uncoupling protein-1 and β3-adrenergic receptor. RESULTS: Subjects had comparable BAT activity (A: 1144 SUVtotal and B: 1325 SUVtotal, within the range previously observed in young adult men. They were genotyped with the polymorphism for uncoupling protein-1 (G/G. CIT was relatively high (A: 40.1% and B: 41.9%, but unlike during our previous cold exposure tests in young adult men, here both subjects practiced a g-Tummo like breathing technique, which involves vigorous respiratory muscle activity. This was confirmed by high [18F]FDG-uptake in respiratory muscle. CONCLUSION: No significant differences were found between the two subjects, indicating that a lifestyle with frequent exposures to extreme cold does not seem to affect BAT activity and CIT. In both subjects, BAT was not higher compared to earlier observations, whereas CIT was very high, suggesting that g-Tummo like breathing during cold exposure may cause additional heat production by vigorous isometric respiratory muscle contraction. The results must be interpreted with caution given the

  17. Effects of type II collagen epitope carbamylation and citrullination in human leucocyte antigen (HLA)-DR4(+) monozygotic twins discordant for rheumatoid arthritis.

    Science.gov (United States)

    De Santis, M; Ceribelli, A; Cavaciocchi, F; Generali, E; Massarotti, M; Isailovic, N; Crotti, C; Scherer, H U; Montecucco, C; Selmi, C

    2016-09-01

    The aim of this study is to investigate the effect of the native, citrullinated or carbamylated type II human collagen T cell- and B cell-epitopes on the adaptive immune response in rheumatoid arthritis (RA). Peripheral blood T and B cells obtained from a human leucocyte D4-related (antigen DR4(-) HLA-DR4)(+) woman with early RA, her healthy monozygotic twin and an unrelated HLA-DR3(+) woman with early RA were analysed for activation (CD154/CD69), apoptosis (annexin/7-aminoactinomycin), cytokine production [interferon (IFN)γ/interleukin (IL)-17/IL-4/IL-10/IL-6] and functional phenotype (CD45Ra/CCR7) after stimulation with the collagen native T cell epitope (T261-273), the K264 carbamylated T cell epitope (carT261-273), the native B cell epitope (B359-369) or the R360 citrullinated B cell epitope (citB359-369), and the combinations of these. The T cell memory compartment was activated by T cell epitopes in both discordant DR4(+) twins, but not in the DR3(+) RA. The collagen-specific activation of CD4(+) T cells was induced with both the native and carbamylated T cell epitopes only in the RA twin. Both T cell epitopes also induced IL-17 production in the RA twin, but a greater IL-4 and IL-10 response in the healthy twin. The citrullinated B cell epitope, particularly when combined with the carbamylated T cell epitope, induced B cell activation and an increased IL-6/IL-10 ratio in the RA twin compared to a greater IL-10 production in the healthy twin. Our data suggest that circulating collagen-specific T and B cells are found in HLA-DR4(+) subjects, but only RA activated cells express co-stimulatory molecules and produce proinflammatory cytokines. Carbamylation and citrullination further modulate the activation and cytokine polarization of T and B cells.

  18. Evidence that BMI and type 2 diabetes share only a minor fraction of genetic variance: a follow-up study of 23,585 monozygotic and dizygotic twins from the Finnish Twin Cohort Study.

    Science.gov (United States)

    Lehtovirta, M; Pietiläinen, K H; Levälahti, E; Heikkilä, K; Groop, L; Silventoinen, K; Koskenvuo, M; Kaprio, J

    2010-07-01

    We investigated whether BMI predicts type 2 diabetes in twins and to what extent that is explained by common genetic factors. This was a population-based twin cohort study. Monozygotic (n = 4,076) and dizygotic (n = 9,109) non-diabetic twin pairs born before 1958 answered a questionnaire in 1975, from which BMI was obtained. Information on incident cases of diabetes was obtained by linkage to nationwide registers until 2005. Altogether, 1,332 twins (6.3% of men, 5.1% of women) developed type 2 diabetes. The HR for type 2 diabetes increased monotonically with a mean of 1.22 (95% CI 1.20-1.24) per BMI unit and of 1.97 (95% CI 1.87-2.08) per SD of BMI. The HRs for lean, overweight, obese and morbidly obese participants were 0.59, 2.96, 6.80 and 13.64 as compared with normal weight participants. Model heritability estimates for bivariate variance due to an additive genetic component and non-shared environmental component were 75% (men) and 71% (women) for BMI, and 73% and 64%, respectively for type 2 diabetes. The correlations between genetic variance components (r (g)) indicated that one fifth of the covariance of BMI and type 2 diabetes was due to shared genetic influences. Although the mean monozygotic concordance for type 2 diabetes was approximately twice the dizygotic one, age of onset of diabetes within twin pair members varied greatly, irrespective of zygosity. A 28-year follow-up of adult Finnish twins showed that despite high trait heritability estimates, only a fraction of covariation in BMI and incident type 2 diabetes was of genetic origin.

  19. Discordant tooth agenesis and peg-shaped in a pair of monozygotic twins: Clinical and molecular study

    OpenAIRE

    Lívia Azeredo Alves Antunes; Erika Calvano Küchler; Marcelo de Castro Costa; Leonardo Santos Antunes; José Mauro Granjeiro

    2013-01-01

    The present report aimed to study an uncommon case of a pair of twins that presented a discordant dental phenotype. Family investigation, clinical, radiographic examination and molecular analysis were performed in both girls. Molecular analysis confirmed the monozygosity by deoxyribonucleic acid chip technology. One twin presented tooth agenesis in left upper lateral incisor and peg-shaped on the contra lateral side while the other twin had no dental alterations. The dental casts study employ...

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

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  1. The Impact of the in utero and Early Postnatal Environments on Grey and White Matter Volume: A Study with Adolescent Monozygotic Twins.

    Science.gov (United States)

    Levesque, Melissa L; Fahim, Cherine; Ismaylova, Elmira; Verner, Marie-Pier; Casey, Kevin F; Vitaro, Frank; Brendgen, Mara; Dionne, Ginette; Boivin, Michel; Tremblay, Richard E; Booij, Linda

    2015-01-01

    Prenatal and early postnatal adversities have been shown to be associated with brain development. However, we do not know how much of this association is confounded by genetics, nor whether the postnatal environment can moderate the impact of in utero adversity. This study used a monozygotic (MZ) twin design to assess (1) the association between birth weight (BW) and brain volume in adolescence, (2) the association between within-twin-pair BW discordance and brain volume discordance in adolescence, and (3) whether the association between BW and brain volume in adolescence is mediated or moderated by early negative maternal parenting behaviours. These associations were assessed in a sample of 108 MZ twins followed longitudinally since birth and scanned at age 15. The total grey matter (GM) and white matter (WM) volumes were obtained using the Diffeomorphic Anatomical Registration Through Exponentiated Lie Algebra (DARTEL) toolbox in the Statistical Parametric Mapping version 8 (SPM8). We found that the BW was significantly associated with the total GM and WM volumes, particularly in the superior frontal gyrus and thalamus. Within-twin-pair discordance in BW was also significantly associated with within-pair discordance in both the GM and the WM volumes, supporting the hypothesis that the specific in utero environment is associated with brain development independently of genetics. Early maternal hostile parenting behaviours and depressive symptoms were associated with total GM volume but not WM volume. Finally, greater early maternal hostility may moderate the association between the BW and GM volume in adolescence, since the positive association between the BW and total GM volume appeared stronger at higher levels of maternal hostility (trend). Together, these findings support the importance of the in utero and early environments for brain development. © 2015 S. Karger AG, Basel.

  2. The precise timing of embryo splitting for monozygotic dichorionic diamniotic twins: when does embryo splitting for monozygotic dichorionic diamniotic twins occur? Evidence for splitting at the morula/blastocyst stage from studies of in vitro fertilization.

    Science.gov (United States)

    Kyono, Koichi

    2013-08-01

    There is a long-held credo, as illustrated in Langman's Medical Embryology (11th ed., Sadler, 2010), that dichorionic diamniotic (DD) twins develop after embryo splitting in the early stages of embryonic development. However, from our clinical experiences of the examination of data from single-embryo transfers in 16 fertility clinics in Japan and from various reports, the majority of occurrences of DD twins have been found in the blastocyst stages.

  3. Clinical Report of 1 Cases of Monozygotic Twins Supernumerary Teeth%单卵双胞胎兄弟额外牙1例

    Institute of Scientific and Technical Information of China (English)

    杨春敏

    2014-01-01

    额外牙是指牙数目异常,其发生可能来自形成过多的牙蕾,也可能是牙胚分裂而成。临床上最多见的是上前牙区单颗多生牙。单卵双胞胎同患多生牙未见报道,同时含有2颗或多颗多生牙者更少见。近日笔者遇到一对双胞胎兄弟,因上前牙区多生牙影响美观前来就诊,由此正确的诊断及时拔除额外牙具有临床意义。%Supernumerary tooth is tooth abnormalities, which may be derived from the formation of excessive tooth bud, may also be split into tooth germ. Clinical go up to see at most is the anterior teeth area single supernumerary teeth. Monozygotic twins with supernumerary teeth is not reported, while containing two or more supernumerary teeth are more rare. I recently met a pair of twin brothers, because to supernumerary teeth appearance came to visit, report as fol ows now.Because the forward supernumerary teeth af ect the appearance to come round to see a doctor, the clinical significance of the correct diagnosis and timely removal of supernumerary teeth. Report as fol ows now.

  4. Lessons from BWS twins: Complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

    NARCIS (Netherlands)

    J. Bliek (Jet); M. Alders (Mariëlle); S.M. Maas (Saskia); R.J. Oostra; D.M. Mackay (Deborah); K. van der Lip (Karin); J.L. Callaway (Johnatan); A.S. Brooks (Alice); S. van't Padje (Sandra); A. Westerveld (Andries); N.J. Leschot (Nico); M.M.A.M. Mannens (Marcel)

    2009-01-01

    textabstractThe Beckwith-Wiedemann syndrome (BWS) is a growth disorder for which an increased frequency of monozygotic (MZ) twinning has been reported. With few exceptions, these twins are discordant for BWS and for females. Here, we describe the molecular and phenotypic analysis of 12 BWS twins and

  5. ACARDIAC TWIN

    OpenAIRE

    Vinayachandran; Jyothi,; Bindu; Umadevi

    2014-01-01

    Acardiac twin is a very rare complication occurring in monozygotic twins in which one fetus develops normally (pump twin) and the other (recipient twin) demonstrate cardiac non development and othe r anomalies. This may represent an extreme form of TTTS, also referred to as TRAP sequence. 1,2,

  6. Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes

    Directory of Open Access Journals (Sweden)

    Lee Norman H

    2006-05-01

    Full Text Available Abstract Background The autism spectrum encompasses a set of complex multigenic developmental disorders that severely impact the development of language, non-verbal communication, and social skills, and are associated with odd, stereotyped, repetitive behavior and restricted interests. To date, diagnosis of these neurologically based disorders relies predominantly upon behavioral observations often prompted by delayed speech or aberrant behavior, and there are no known genes that can serve as definitive biomarkers for the disorders. Results Here we demonstrate, for the first time, that lymphoblastoid cell lines from monozygotic twins discordant with respect to severity of autism and/or language impairment exhibit differential gene expression patterns on DNA microarrays. Furthermore, we show that genes important to the development, structure, and/or function of the nervous system are among the most differentially expressed genes, and that many of these genes map closely in silico to chromosomal regions containing previously reported autism candidate genes or quantitative trait loci. Conclusion Our results provide evidence that novel candidate genes for autism may be differentially expressed in lymphoid cell lines from individuals with autism spectrum disorders. This finding further suggests the possibility of developing a molecular screen for autism based on expressed biomarkers in peripheral blood lymphocytes, an easily accessible tissue. In addition, gene networks are identified that may play a role in the pathophysiology of autism.

  7. Twinning and heteropaternity in chimpanzees (Pan troglodytes).

    Science.gov (United States)

    Ely, John J; Frels, William I; Howell, Sue; Izard, M Kay; Keeling, Michale E; Lee, D Rick

    2006-05-01

    Unlike monozygotic (MZ) twins, dizygotic (DZ) twins develop from separate ova. The resulting twins can have different sires if the fertilizing sperm comes from different males. Routine paternity testing of a pair of same-sexed chimpanzee twins born to a female housed with two males indicated that the twins were sired by two different males. DNA typing of 22 short-tandem repeat (STR) loci demonstrated that these twins were not MZ twins but heteropaternal DZ twins. Reproductive data from 1926-2002 at five domestic chimpanzee colonies, including 52 twins and two triplets in 1,865 maternities, were used to estimate total twinning rates and the MZ and DZ components. The average chimpanzee MZ twinning rate (0.43%) equaled the average human MZ rate (0.48%). However, the chimpanzee DZ twinning rate (2.36%) was over twice the human average, and higher than all but the fertility-enhanced human populations of Nigeria. Similarly high twinning rates among African chimpanzees indicated that these estimates were not artifacts of captivity. Log-linear analyses of maternal and paternal effects on recurrent twinning indicated that females who twinned previously had recurrence risks five times greater than average, while evidence for a paternal twinning effect was weak. Chimpanzee twinning rates appear to be elevated relative to corresponding estimated human rates, making twinning and possibly heteropaternity more important features of chimpanzee reproductive biology than previously recognized.

  8. X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate

    DEFF Research Database (Denmark)

    Kimani, Jane W; Shi, Min; Daack-Hirsch, Sandra

    2007-01-01

    Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X...... of XCI was defined as the deviation in inactivation pattern from a 50:50 ratio. Our analysis revealed no significant difference in the degree of skewing between twin pairs (P = 0.3). However, borderline significant differences were observed in the sister pairs (P = 0.02), with the cleft lip with cleft......, particularly cleft lip and palate....

  9. Twins reunited: scientific and personal perspectives/twin research studies: multiple birth effects on IQ and body size; life style, muscles, and metabolism; monochorionic dizygotic twin with blood chimerism; amniocentesis for twins/twins in the media: identical doctors; freedom fighter for twins; twin scholarships; Auguste and Jean-Felix Piccard; twins born apart.

    Science.gov (United States)

    Segal, Nancy L; Mulligan, Christy A

    2014-04-01

    A reunion of 38-year-old female monozygotic twins took place in Daegu, South Korea, on January 14, 2014. Scientific and personal perspectives on this extraordinary event are provided. A review of timely twin research follows, covering the effects of multiple births on IQ and body size, lifestyle and physical fitness associations, a rare case of a dizygotic twin with blood chimerism and definitional issues surrounding amniocentesis-related loss in multiple birth pregnancies. Interesting and informative mention of twins in the media includes twin doctors, a twin freedom fighter, the availability of college scholarships for twins, a new book about the Piccard family (two of whose members were twins), and co-twins born before and after the new year. A follow-up to a previous mention of identical twin biatheletes is also provided.

  10. Zygosity Differences in Height and Body Mass Index of Twins From Infancy to Old Age

    DEFF Research Database (Denmark)

    Jelenkovic, Aline; Yokoyama, Yoshie; Sund, Reijo

    2015-01-01

    A trend toward greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in mean values and variances of height and body mass index (BMI) among male and female twins...

  11. Monozygotic twin pairs discordant for Hashimoto's thyroiditis share a high proportion of thyroid peroxidase autoantibodies to the immunodominant region A. Further evidence for genetic transmission of epitopic “fingerprints”

    DEFF Research Database (Denmark)

    Brix, Thomas Heiberg; Hegedüs, Laszlo; Gardas, Andrzej;

    2010-01-01

    Thyroid peroxidase antibodies (TPOAbs) in patients with Hashimoto's thyroiditis (HT) predominantly react with two immunodominant regions (IDR-A, IDR-B). Theoretically, as shown for the level of TPOAbs, the autoantibody epitopic recognition of the IDRs could be under genetic control. To examine this......, we compared the distribution of TPOAb epitopic fingerprints between healthy monozygotic (MZ) co-twins and siblings to patients with clinically overt HT with a control group of euthyroid subjects, matched for sex and age, but without autoimmune thyroid disease (AITD) among their first-degree relatives...

  12. Genetic influence on age at first birth of female twins born in the UK, 1919–68

    NARCIS (Netherlands)

    Tropf, F.C.; Barban, N.; Mills, M.C.; Snieder, H.; Mandemakers, J.J.

    2015-01-01

    Using a sample of monozygotic (945, 42 per cent) and dizygotic (1,329, 58 per cent) twin pairs born 1919–68 in the UK, we applied innovative tobit models to investigate genetic and environmental influences on age at first birth (AFB). We found that a substantial part (40 per cent) of the variation

  13. Genetic influence on age at first birth of female twins born in the UK, 1919–68

    NARCIS (Netherlands)

    Tropf, F.C.; Barban, N.; Mills, M.C.; Snieder, H.; Mandemakers, J.J.

    2015-01-01

    Using a sample of monozygotic (945, 42 per cent) and dizygotic (1,329, 58 per cent) twin pairs born 1919–68 in the UK, we applied innovative tobit models to investigate genetic and environmental influences on age at first birth (AFB). We found that a substantial part (40 per cent) of the variation i

  14. Genetic influence on age at first birth of female twins born in the UK, 1919-68

    NARCIS (Netherlands)

    Tropf, Felix C.; Barban, Nicola; Mills, Melinda C.; Snieder, Harold; Mandemakers, Jornt J.

    2015-01-01

    Using a sample of monozygotic (945, 42 per cent) and dizygotic (1,329, 58 per cent) twin pairs born 1919-68 in the UK, we applied innovative tobit models to investigate genetic and environmental influences on age at first birth (AFB). We found that a substantial part (40 per cent) of the variation i

  15. Socioeconomic position and twins' health

    DEFF Research Database (Denmark)

    Osler, Merete; McGue, Matt; Christensen, Kaare

    2007-01-01

    of middle-aged Danish twins was conducted in 1998-99. The study population included 1266 like-sex twin pairs [52.5% monozygotic (MZ) and 47.6% dizygotic (DZ)]. Data were obtained on childhood and adult social class and on height, BMI, grip strength, depression symptoms, self-rated health, cognitive function......, prenatal and rearing environmental factors from environmental factor later in life, we compared the health status among male and female twin pairs who lived together during childhood and were discordant or concordant on adult socioeconomic position. METHODS: A cross-sectional survey among a random sample......, physical activity, smoking, alcohol and food intake. RESULTS: The expected associations between the individual twins' adult social class and health measures were observed. Among DZ male twins discordant on adult social class, the higher social class twin was on average significantly taller and had higher...

  16. Heritability of corneal refraction and corneal astigmatism: a population-based twin study among 66- to 79-year-old female twins.

    Science.gov (United States)

    Pärssinen, Olavi; Kauppinen, Markku; Kaprio, Jaakko; Koskenvuo, Markku; Rantanen, Taina

    2013-03-01

    To examine the heritability of corneal refraction power (CR) and corneal astigmatism (AST) in older women. Corneal refraction and AST were measured by IOL master in 52 monozygotic (MZ) and 47 dizygotic (DZ) female twin pairs aged 66-79 years. The relative contribution of genetic and environmental factors to individual differences in CR was estimated by applying an independent pathway model to the twin data and AST by intraclass correlations (ICC). For the right eye, mean CR was 44.58 dioptres (D) (standard deviation (SD) ±1.28) When comparing CR of the right and left eye between MZ and DZ, no significant difference was found. Mean AST was 0.77 D (SD ±0.44) with no differences observed either between the MZ and the DZ individuals, or between the left and the right eyes. ICCs between the sisters for CR were, for the right eye, 0.882 and 0.378 for MZ and DZ, respectively, and for the left eye 0.855 and 0.358. For AST of the right eye, the ICCs were 0.533 and 0.096 for the MZ and DZ pairs, respectively, and for the left eye, the MZ and DZ correlations were 0.396 and 0.299. Quantitative genetic modelling showed that 81% of the variance in CR could be explained by genetic factors, additive genetic factors explaining 62% (95% confidence interval [CI] 44% -86%) and dominant genetic effect 19% (95% CI 7-49%) of the variance in CR. Different models were constructed to explain the heredity of AST. None of these models gave meaningful results, although the ICC values for MZ were higher than those for DZ. Most of the variance in CR among older Finnish women could be explained by genetic factors. © 2012 The Authors. Acta Ophthalmologica © 2012 Acta Ophthalmologica Scandinavica Foundation.

  17. Conjoined omphalopagus twins: a casereport

    Directory of Open Access Journals (Sweden)

    Sheila Yadira Gómez-Murillo

    2014-11-01

    Full Text Available Multiple pregnancies are 3% of the total. The most frequent are dizygotic females, however, a small group of them are of monozygotic conjoined twins in some anatomical area. This attracts the attention of physicians because of the rarity of the condition and the difficulties as well as the ethical dilemmas for their treatment. We report a case of male Siamese omphalopagus. They were separated surgically at seven weeks of age. One of them lived six months.

  18. Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex.

    Science.gov (United States)

    Schmid, O; Trautmann, U; Ashour, H; Ulmer, R; Pfeiffer, R A; Beinder, E

    2000-12-01

    The presence of a monozygotic twin gestation with discordant sex of the twins is a very rare constellation, which is referred to as heterokaryotypic monozygotic pregnancy. This constellation can develop either due to a chromosomal aberration after twinning or is - as in the following case - due to a mitotic error before twinning and an unequal distribution of mosaicism in both embryos. So far the diagnosis of heterokaryotypic monozygotic pregnancy has always been made postnatally, with only one exception (Gonsoulin et al., 1990). In this case we suspected the presence of monozygotic twins ultrasonically because of the chorionic and amniotic membrane characteristics. Surprisingly the sex of the fetuses was discrepant. As one of them had hydrops and a structural heart defect, we carried out an amniocentesis, which revealed mosaicism [45,X/46,X,i(Y)(p10)] of both fetuses. The female fetus with a predominant 45,X set of chromosomes and the typical intrauterine signs of the Ullrich-Turner syndrome (massive hygroma colli, hydrops fetalis and multiple cardiac defects) died during the 25th week of gestation due to cardiac decompensation. The other fetus appeared to be male with a predominance of a 46,X,i(Y)(p10) set of chromosomes and was born a few days after the intrauterine death of the hydropic fetus. In conclusion, our observation shows that ultrasonic evidence of discordant fetal sex in twins does not necessarily exclude monozygosity. Copyright 2000 John Wiley & Sons, Ltd.

  19. Genetic and Environmental Influences on Extreme Personality Dispositions in Adolescent Female Twins

    Science.gov (United States)

    Pergadia, Michele L.; Madden, Pamela A. F.; Lessov, Christina N.; Todorov, Alexandre A.; Bucholz, Kathleen K.; Martin, Nicholas G.; Heath, Andrew C.

    2006-01-01

    Background: The objective was to determine whether the pattern of environmental and genetic influences on deviant personality scores differs from that observed for the normative range of personality, comparing results in adolescent and adult female twins. Methods: A sample of 2,796 female adolescent twins ascertained from birth records provided…

  20. Genetic and Environmental Influences on Extreme Personality Dispositions in Adolescent Female Twins

    Science.gov (United States)

    Pergadia, Michele L.; Madden, Pamela A. F.; Lessov, Christina N.; Todorov, Alexandre A.; Bucholz, Kathleen K.; Martin, Nicholas G.; Heath, Andrew C.

    2006-01-01

    Background: The objective was to determine whether the pattern of environmental and genetic influences on deviant personality scores differs from that observed for the normative range of personality, comparing results in adolescent and adult female twins. Methods: A sample of 2,796 female adolescent twins ascertained from birth records provided…

  1. Personality and birth order in monozygotic twins adopted apart: a test of Sulloway's theory; Research Reviews: twin births and cancer risk in mothers, male sexual dysfunction, twin study of ultimatum game behavior; Human Interest: 'The Land of Twins', twin-like reunion-I, twin-like reunion-II.

    Science.gov (United States)

    Segal, Nancy L

    2008-02-01

    A brief overview of Sulloway's (1996) theory of birth order and personality is presented. A reared apart twin approach for testing his personality findings regarding openness to experience and conscientiousness in first borns and later borns is described. This is followed by summaries of three recent twin studies. The topics include cancer risk in mother of twins, sexual dysfunction in males and responder behavior during ultimatum games. This article concludes with a discussion of twinning rates and rituals among the Yoruba of western Nigeria, and descriptions of two unusual reunions between siblings and twins.

  2. Art for twins: Yorùbá artists and their statues/twin research studies: twins' education and conceptions; diurnal preference; inherited eye diseases; ultrasound counseling when twins are conjoined/popular twin reports: twin sisters (the film); rare pregnancy; diet test; French twins reared apart and reunited.

    Science.gov (United States)

    Segal, Nancy L

    2014-06-01

    The Yorùbá of Nigeria are well known for their high twinning rate and the statues they create to commemorate deceased twins. An impressive collection of this artwork was displayed at the University of California's Fowler Museum in Los Angeles between October 13, 2013 and March 2, 2014. An overview of this exhibit is provided. Next, twin research on maternal education and conception, diurnal preference, inherited eye diseases, and ultrasound counseling for couples with conjoined twins are briefly summarized. This article concludes with a discussion of media-based items related to twins. The topics include an award-winning twin film, a rare pregnancy, a diet test, and the separation and chance reunion of monozygotic female twins.

  3. Divergent frequencies of IGF-I receptor-expressing blood lymphocytes in monozygotic twin pairs discordant for Graves' disease: evidence for a phenotypic signature ascribable to nongenetic factors

    DEFF Research Database (Denmark)

    Douglas, Raymond S; Brix, Thomas H; Hwang, Catherine J

    2009-01-01

    Twin Registry, including seven discordant pairs, four pairs concordant for GD, and seven healthy pairs. MAIN OUTCOME MEASURES: Subjects underwent physical examination and laboratory analysis. Surface display of IGF-IR on T and B cells was analyzed by flow cytometry. RESULTS: Twins with GD display...

  4. Impact of two common polymorphisms in the PPARgamma gene on glucose tolerance and plasma insulin profiles in monozygotic and dizygotic twins: thrifty genotype, thrifty phenotype, or both?

    DEFF Research Database (Denmark)

    Poulsen, Pernille; Andersen, Gitte; Fenger, Mogens;

    2003-01-01

    The Pro12Ala polymorphism in the PPARgamma2 gene has been associated with reduced risk of type 2 diabetes and insulin resistance. Recently, an association between dizygotic twinning and PPARgamma gene polymorphisms has been proposed. We investigated the phenotypic appearance of the two polymorphi......The Pro12Ala polymorphism in the PPARgamma2 gene has been associated with reduced risk of type 2 diabetes and insulin resistance. Recently, an association between dizygotic twinning and PPARgamma gene polymorphisms has been proposed. We investigated the phenotypic appearance of the two...... polymorphism on glucose tolerance, diabetic status, homeostasis model assessment for insulin resistance, and plasma insulin profiles in twins. No impact of the silent exon 6 polymorphism on glucose homeostasis or plasma insulin profiles was found. Independent of the polymorphisms, we observed a significant...... an association between the Ala allele and reduced risk of diabetes and insulin resistance in twins. However, the differences in metabolic profiles among MZ and DZ twins were not explained by differences in frequencies of the genetic variants and may be due to intrauterine environmental factors operating in twins...

  5. Monochorionic twin pregnancies

    NARCIS (Netherlands)

    Hack, K.E.A.

    2008-01-01

    Following widespread application of assisted reproductive technology modalities and the increased age of motherhood, the incidence of twin gestations has increased markedly. Twins are either monozygotic or dizygotic. Dizygotic (i.e. fraternal) twins result from the fertilization of two different egg

  6. The correlation of fecundability among twins: Evidence of a genetic effect on fertility?

    DEFF Research Database (Denmark)

    Christensen, Kaare; Kohler, Hans-Peter; Basso, Olga;

    2003-01-01

    born 1953-1982. Fecundability was assessed as the waiting time to pregnancy at the first attempt to achieve a pregnancy. RESULTS: The reported time to pregnancy for males was slightly shorter than for females but there were no sex differences in intrapair similarity. We found an intrapair correlation......BACKGROUND: Numerous rare genetic conditions are known to influence fecundability in both males and females. It is less clear to what extent more subtle genetic differences influence fecundability on a population level. METHODS: In 1994 a population-based survey was conducted among Danish twins...... in time to pregnancy for 645 monozygotic twin pairs (r = 0.22; 95% confidence interval = 0.12 to 0.32), but no intrapair correlation for 826 like-sex dizygotic twin pairs (r = 0.00; 95% confidence interval = -0.09 to 0.10). CONCLUSIONS: The correlation in time to pregnancy for monozygotic twins suggests...

  7. The day of embryo transfer affects delivery rate, birth weights, female-to-male ratio, and monozygotic twin rate

    Directory of Open Access Journals (Sweden)

    Valentina Sotiroska

    2015-12-01

    Conclusion: The study suggests that if a blastocyst can be obtained in patients of advanced age (≧36 years, it improves their baby take-home rates. Younger patients (aged < 36 years should undergo elective single blastocyst transfers to reduce multiple pregnancy rates.

  8. Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation

    DEFF Research Database (Denmark)

    Milman, Nils; Andersen, Claus B; Hansen, Annette

    2006-01-01

    quality of life. At follow up at 20 years of age (after 2-5 years of infliximab treatment) the twins had an almost normal physical appearance and a normal psychomotoric development, indicating a favourable short-term prognosis of the disease. Blau syndrome has pathologic, clinical and therapeutic features...... in common with sarcoidosis, but rarely involves the lungs or other parenchymatous organs. In children, discrimination between early onset sarcoidosis and Blau syndrome should include a CARD15 mutation analysis....

  9. Monozygotic twinning after in vitro fertilization/intracytoplasmic sperm injection treatment is not related to advanced maternal age, intracytoplasmic sperm injection, assisted hatching, or blastocyst transfer

    Directory of Open Access Journals (Sweden)

    Dennis Wu

    2014-09-01

    Conclusion: Until definite conclusions are drawn from larger trials, patients receiving IVF should not be overly concerned about the increase in MZT risk when proceeding to various assisted reproductive procedures (i.e., ICSI, AH, and blastocyst transfer. However, there is some evidence that the incidence of monochorionic–monoamniotic twins may be significantly increased after IVF/ICSI cycles. Patients should be informed about the possible obstetric complications regarding this rare type of MZT.

  10. Características de superdotação em um par de gêmeos monozigóticos Characteristics of giftedness in a pair of monozygotic twins

    Directory of Open Access Journals (Sweden)

    Carolina Sertã Passos

    2011-12-01

    Full Text Available Com objetivo de comparar características de superdotação em um par de gêmeos monozigóticos, mais especificamente criatividade, motivação e capacidade superior, foram utilizados dados provenientes de um programa que identifica estudantes talentosos com o Modelo das Portas Giratórias. Os gêmeos responderam, também, ao Teste Torrance de Pensamento Criativo, à Escala de Avaliação da Motivação para Aprender de Alunos do Ensino Fundamental e à Bateria de Provas de Raciocínio. Eles possuem superdotação acadêmica e artística, sendo que um deles possui, também, altas habilidades para liderança e comunicação. Verificou-se que eles apresentaram elevada criatividade, principalmente verbal. O envolvimento com a tarefa, que neste estudo foi reduzido à motivação para aprender, não está presente em níveis superiores nos gêmeos. Mais semelhanças que diferenças entre os irmãos, talvez por eles compartilharem genes e ambientes, foram identificadas.Data from program that identifies talent through the Revolving Door Identification Model was used to compare characteristics of giftedness of a pair of monozygotic twins, specifically focusing on creativity, motivation and high ability. The twins also answered the Torrance Test of Creative Thinking, the Scale of Motivation to Learn in Elementary School Students and the Battery of Reasoning Tests. They have academic and artistic giftedness; one of them also has high leadership and communication skills. It was found that they showed great creativity, mainly verbal. Task commitment, which in this study was limited to motivation to learn, is not present at higher levels for the twins. More similarities than differences between the two brothers were identified, possibly because they share genes and environments.

  11. Variants close to NTRK2 gene are associated with birth weight in female twins.

    Science.gov (United States)

    Metrustry, Sarah J; Edwards, Mark H; Medland, Sarah E; Holloway, John W; Montgomery, Grant W; Martin, Nicholas G; Spector, Tim D; Cooper, Cyrus; Valdes, Ana M

    2014-08-01

    Low weight at birth has previously been shown to be associated with a number of adult diseases such as type 2 diabetes, cardiovascular disease, high blood pressure, and obesity later in life. Genome-wide association studies (GWAS) have been published for singleton-born individuals, but the role of genetic variation in birth weight (BW) in twins has not yet been fully investigated. A GWAS was performed in 4,593 female study participants with BW data available from the TwinsUK cohort. A genome-wide significant signal was found in chromosome 9, close to the NTRK2 gene (OMIM: 600456). QIMR, an Australian twin cohort (n = 3,003), and UK-based singleton-birth individuals from the Hertfordshire cohort (n = 2,997) were used as replication for the top two single nucleotide polymorphism (SNPs) underpinning this signal, rs12340987 and rs7849941. The top SNP, rs12340987, was found to be in the same direction in the Australian twins and in the singleton-born females (fixed effects meta-analysis beta = -0.13, SE = 0.02, and p = 1.48 × 10-8) but not in the singleton-born males tested. These findings provide an important insight into the genetic component of BW in twins who are normally excluded due to their lower BW when compared with singleton births, as well as the difference in BW between twins. The NTRK2 gene identified in this study has previously been associated with obesity.

  12. Common STAT3 variants are not associated with obesity or insulin resistance in female twins

    NARCIS (Netherlands)

    Jamshidi, Yalda; Kyriakou, Theodosios; Gooljar, Sakina B.; Collins, Laura J.; Lane, Carl A.; Snieder, Harold; Wang, Xiaoling; Spector, Tim D.; O'Dell, Sandra D.

    2007-01-01

    JAMSHIDI, YALDA, THEODOSIOS KYRIAKOU, SAKINA B. GOOLJAR, LAURA J. COLLINS, CARL A. LANE, HAROLD SNIEDER, XIAOLING WANG, TIM D. SPECTOR, AND SANDRA D. O'DELL. Common STAT3 variants are not associated with obesity or insulin resistance in female twins. Obesity. 2007; 15:1634-1639. In animal models, ST

  13. Common STAT3 variants are not associated with obesity or insulin resistance in female twins

    NARCIS (Netherlands)

    Jamshidi, Yalda; Kyriakou, Theodosios; Gooljar, Sakina B.; Collins, Laura J.; Lane, Carl A.; Snieder, Harold; Wang, Xiaoling; Spector, Tim D.; O'Dell, Sandra D.

    JAMSHIDI, YALDA, THEODOSIOS KYRIAKOU, SAKINA B. GOOLJAR, LAURA J. COLLINS, CARL A. LANE, HAROLD SNIEDER, XIAOLING WANG, TIM D. SPECTOR, AND SANDRA D. O'DELL. Common STAT3 variants are not associated with obesity or insulin resistance in female twins. Obesity. 2007; 15:1634-1639. In animal models,

  14. Education in Twins and Their Parents Across Birth Cohorts Over 100 years: An Individual-Level Pooled Analysis of 42-Twin Cohorts.

    Science.gov (United States)

    Silventoinen, Karri; Jelenkovic, Aline; Latvala, Antti; Sund, Reijo; Yokoyama, Yoshie; Ullemar, Vilhelmina; Almqvist, Catarina; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth J F; Kandler, Christian; Honda, Chika; Inui, Fujio; Iwatani, Yoshinori; Watanabe, Mikio; Rebato, Esther; Stazi, Maria A; Fagnani, Corrado; Brescianini, Sonia; Hur, Yoon-Mi; Jeong, Hoe-Uk; Cutler, Tessa L; Hopper, John L; Busjahn, Andreas; Saudino, Kimberly J; Ji, Fuling; Ning, Feng; Pang, Zengchang; Rose, Richard J; Koskenvuo, Markku; Heikkilä, Kauko; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Rijsdijk, Fruhling; Sung, Joohon; Kim, Jina; Lee, Jooyeon; Lee, Sooji; Nelson, Tracy L; Whitfield, Keith E; Tan, Qihua; Zhang, Dongfeng; Llewellyn, Clare H; Fisher, Abigail; Burt, S Alexandra; Klump, Kelly L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Medland, Sarah E; Martin, Nicholas G; Montgomery, Grant W; Magnusson, Patrik K E; Pedersen, Nancy L; Dahl Aslan, Anna K; Corley, Robin P; Huibregtse, Brooke M; Öncel, Sevgi Y; Aliev, Fazil; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Willemsen, Gonneke; Bartels, Meike; van Beijsterveldt, Catharina E M; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Harris, Jennifer R; Brandt, Ingunn; Nilsen, Thomas S; Rasmussen, Finn; Tynelius, Per; Baker, Laura A; Tuvblad, Catherine; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Gatz, Margaret; Butler, David A; Lichtenstein, Paul; Goldberg, Jack H; Harden, K Paige; Tucker-Drob, Elliot M; Duncan, Glen E; Buchwald, Dedra; Tarnoki, Adam D; Tarnoki, David L; Franz, Carol E; Kremen, William S; Lyons, Michael J; Maia, José A; Freitas, Duarte L; Turkheimer, Eric; Sørensen, Thorkild I A; Boomsma, Dorret I; Kaprio, Jaakko

    2017-10-01

    Whether monozygotic (MZ) and dizygotic (DZ) twins differ from each other in a variety of phenotypes is important for genetic twin modeling and for inferences made from twin studies in general. We analyzed whether there were differences in individual, maternal and paternal education between MZ and DZ twins in a large pooled dataset. Information was gathered on individual education for 218,362 adult twins from 27 twin cohorts (53% females; 39% MZ twins), and on maternal and paternal education for 147,315 and 143,056 twins respectively, from 28 twin cohorts (52% females; 38% MZ twins). Together, we had information on individual or parental education from 42 twin cohorts representing 19 countries. The original education classifications were transformed to education years and analyzed using linear regression models. Overall, MZ males had 0.26 (95% CI [0.21, 0.31]) years and MZ females 0.17 (95% CI [0.12, 0.21]) years longer education than DZ twins. The zygosity difference became smaller in more recent birth cohorts for both males and females. Parental education was somewhat longer for fathers of DZ twins in cohorts born in 1990-1999 (0.16 years, 95% CI [0.08, 0.25]) and 2000 or later (0.11 years, 95% CI [0.00, 0.22]), compared with fathers of MZ twins. The results show that the years of both individual and parental education are largely similar in MZ and DZ twins. We suggest that the socio-economic differences between MZ and DZ twins are so small that inferences based upon genetic modeling of twin data are not affected.

  15. Analysis of the T-cell receptor V beta usage in monozygotic and dizygotic twins living in a Plasmodium falciparum endemic area in west Africa.

    Science.gov (United States)

    Troye-Blomberg, M; Fogdell, A; el-Ghazali, G; Larsson, A; King, M H; Sisay-Joof, F; Olerup, O; Grunewald, J; Jepson, A

    1997-05-01

    To investigate the influence of genetic and/or environmental factors in the development and shaping of the human peripheral T cell repertoire the authors studied the T-cell receptor (TCR) V beta usage in 10 adult monozygous (Mz) and nine dizygous (Dz) twin pairs living in a Plasmodium falciparum endemic area in West Africa. The TCR repertoire was determined using a small panel of anti-V beta specific monoclonal antibodies (MoAbs) using conventional immunofluorescence assays. The results revealed that the V beta repertoire was similar to that recently described for a Caucasian population using a similar panel of antibodies. The frequencies of particular V beta genes tested were influenced neither by anti-malarial antibody titres nor by parasite densities, indicating that the P. falciparum parasite is not a dominating factor in determining the peripheral T cell repertoire. All donors were human leucocyte antigen (HLA) class I and II typed; no association was found between the expression of any V beta genes and MHC haplotype. The V beta usage was more concordant within the Mz than within the Dz pairs. For a group comprising four HLA class II identical individuals, the average within-pair difference was significantly greater than for the whole Mz group, but similar to that seen for the total Dz group. Thus, the data suggest that genetic, rather than environmental, factors have a profound effect on the shaping of the human circulating T cell repertoire and that the major genetic factors are encoded by non-HLA class II genes.

  16. Discordant Epilepsy in Monozygous Twins

    OpenAIRE

    2001-01-01

    Twelve monozygotic twins, discordant for epilepsy, were analysed for nonhereditary etiological factors by clinical history, MRI, and quantitative brain volume studies at the Brain Research Institute, University of Melbourne, Victoria, Australia.

  17. Paternal age and telomere length in twins

    DEFF Research Database (Denmark)

    Hjelmborg, Jacob B; Dalgård, Christine; Mangino, Massimo

    2015-01-01

    . Based on two independent (discovery and replication) twin studies, comprising 889 twin pairs, we show an increase in the resemblance of leukocyte telomere length between dizygotic twins of older fathers, which is not seen in monozygotic twins. This phenomenon might result from a paternal age...

  18. Effects of coffee and tea consumption on urinary incontinence in female twins

    Science.gov (United States)

    Tettamanti, G; Altman, D; Pedersen, NL; Bellocco, R; Milsom, I; Iliadou, AN

    2011-01-01

    Objectives To assess the effect of coffee and tea consumption on symptoms of urinary incontinence. Design Population based study Setting The Swedish Twin Register Population In 2005, all twins born between 1959–1985 in Sweden (n = 42 852) were invited to participate in a web-based survey to screen for common complex diseases and common exposures. The present study was limited to female twins with information about at least one urinary symptoms and coffee and tea consumption (n = 14 031). Main outcome measure The association between coffe and tea consumption and urinary incontinence, as well as, nocturia was estimated as odds ratios (ORs) with 95% confidence intervals (CIs). Results Women with a high coffee intake were at lower risk of any urinary incontinence (OR 0.78, 95% confidence intervals (CI) 0.64-0.98) compared to women not drinking coffee. Coffee intake and incontinence subtypes showed no significant associations whereas high tea consumption was specifically associated with a risk for overactive bladder (OR 1.34, 95% CI 11.07-1.67) and nocturia (OR 1.18, 95% CI 1.01-1.38). Results from co-twin control analysis suggested that the associations observed in logistic regression were mainly due to familial effects. Conclusions This study suggests that coffee and tea consumption has a limited effect on urinary incontinence symptoms. Familial and genetic effects may have confounded the associations observed in previous studies. PMID:21401855

  19. A twin study of computer anxiety in Turkish adolescents.

    Science.gov (United States)

    Deryakulu, Deniz; Calışkan, Erkan

    2012-04-01

    The present study investigated computer anxiety within a sample of Turkish twins aged 10-18. A total of 185 twin-pairs participated in the study. Of the twins, 64 pairs (34.6 percent) were monozygotic (MZ) and 121 pairs (65.4 percent) were dizygotic (DZ). Of the 121 DZ twins, 54 pairs (44.63 percent) were same-sex twins and 67 pairs (55.37 percent) were opposite-sex twins. Computer anxiety was assessed using Computer Anxiety Rating Scale-Turkish Version (CARS-TV), one of the three main scales of "Measuring Technophobia Instruments" developed by Rosen and Weil. The results of paired t test comparisons showed no significant differences in MZ and same-sex DZ twin-pairs' levels of computer anxiety. On the other hand, a significant difference was found in opposite-sex DZ twin-pairs' level of computer anxiety. Interesting enough, males appeared to be more computer anxious than their female co-twins. In the present study, using Falconer's formula, heritability estimate for computer anxiety was derived from correlations based on MZ and DZ twins' mean scores on CARS-TV. The results showed that 57 percent of the variance in computer anxiety was from genetics and 41.5 percent was from nonshared environmental factors. Shared environmental influence, on the other hand, was very small and negligible. Interpretations of results and potential directions for future research are presented.

  20. Characterizing Blood Metabolomics Profiles Associated with Self-Reported Food Intakes in Female Twins.

    Directory of Open Access Journals (Sweden)

    Tess Pallister

    Full Text Available Using dietary biomarkers in nutritional epidemiological studies may better capture exposure and improve the level at which diet-disease associations can be established and explored. Here, we aimed to identify and evaluate reproducibility of novel biomarkers of reported habitual food intake using targeted and non-targeted metabolomic blood profiling in a large twin cohort. Reported intakes of 71 food groups, determined by FFQ, were assessed against 601 fasting blood metabolites in over 3500 adult female twins from the TwinsUK cohort. For each metabolite, linear regression analysis was undertaken in the discovery group (excluding MZ twin pairs discordant [≥1 SD apart] for food group intake with each food group as a predictor adjusting for age, batch effects, BMI, family relatedness and multiple testing (1.17x10-6 = 0.05/[71 food groups x 601 detected metabolites]. Significant results were then replicated (non-targeted: P<0.05; targeted: same direction in the MZ discordant twin group and results from both analyses meta-analyzed. We identified and replicated 180 significant associations with 39 food groups (P<1.17x10-6, overall consisting of 106 different metabolites (74 known and 32 unknown, including 73 novel associations. In particular we identified trans-4-hydroxyproline as a potential marker of red meat intake (0.075[0.009]; P = 1.08x10-17, ergothioneine as a marker of mushroom consumption (0.181[0.019]; P = 5.93x10-22, and three potential markers of fruit consumption (top association: apple and pears: including metabolites derived from gut bacterial transformation of phenolic compounds, 3-phenylpropionate (0.024[0.004]; P = 1.24x10-8 and indolepropionate (0.026[0.004]; P = 2.39x10-9, and threitol (0.033[0.003]; P = 1.69x10-21. With the largest nutritional metabolomics dataset to date, we have identified 73 novel candidate biomarkers of food intake for potential use in nutritional epidemiological studies. We compiled our findings into the

  1. Sleep Terrors in Twins

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-12-01

    Full Text Available In an attempt to clarify the genetic and environmental causes of sleep terrors in childhood, reasearchers in Canada followed 390 pairs of monozygotic and dizygotic twins by assessing the frequency of sleep terrors at 18 and 30 months of age using a questionnaire administered to the biological mothers.

  2. Twin Legacies: Victor and Vincent McKusick/Twin Studies: Twinning Rates I; Twinning Rates II; MZ Twin Discordance for Russell-Silver Syndrome; Twins' Language Skills/Headlines: Babies Born to Identical Twin Couples; Identity Exchange; Death of Princess Ashraf (Twin); Yahoo CEO Delivers Identical Twins.

    Science.gov (United States)

    Segal, Nancy L

    2016-04-01

    The lives of the illustrious monozygotic (MZ) twins, Victor A. and Vincent L. McKusick, are described. Victor earned the distinction as the 'Father of Medical Genetics', while Vincent was a legendary Chief Justice of the Maine Supreme Court. This dual biographical account is followed by two timely reports of twinning rates, a study of MZ twin discordance for Russell-Silver Syndrome (RSS) and a study of twins' language skills. Twin stories in the news include babies born to identical twin couples, a case of switched identity, the death of Princess Ashraf (Twin) and a new mother of twins who is also Yahoo's CEO.

  3. Etiologic relationships between anxiety and dimensions of maladaptive perfectionism in young adult female twins.

    Science.gov (United States)

    Moser, Jason S; Slane, Jennifer D; Alexandra Burt, S; Klump, Kelly L

    2012-01-01

    Theory and research suggest that maladaptive perfectionism, specifically, concerns about mistakes (CM) and doubts about actions (DA), may be important etiologic and maintenance mechanisms for anxiety and its disorders. However, no studies speaking directly to the origins of the relationship, i.e. what etiologic factors underlie the phenotypic association between anxiety and maladaptive perfectionism, exist. The current study aimed to address this gap in the literature by exploring genetic and environmental relationships between anxiety symptoms and maladaptive perfectionism. The sample consisted of 292 young adult same-sex female twins from the Michigan State University Twin Registry. Anxiety symptoms were assessed by the State Trait Anxiety Inventory-Trait version and an anxiety problems scale derived from the Young Adult Self Report. Maladaptive perfectionism was measured using the CM and DA subscales of the Frost Multidimensional Perfectionism Scale. Anxiety and maladaptive perfectionism were both moderately heritable, with estimates ranging from. 45 to .66. Moreover, multivariate analyses revealed that genetic factors were primarily responsible for associations between anxiety and maladaptive perfectionism (r(g) =.59-.88). This is the first study to demonstrate the role of genetic factors in the relationship between anxiety and maladaptive perfectionism. Future studies are needed to uncover the specific biologic and genetic factors that contribute to this relationship and to evaluate whether maladaptive perfectionism represents an intermediate trait or risk factor for anxiety. © 2011 Wiley-Liss, Inc.

  4. IGF-2和CDKN1C基因在单合子双胎选择性宫内生长受限胎盘中的表达%The expression of IGF-2 and CDKN1C in placenta of monozygotic twins with selective intrauterine growth restriction

    Institute of Scientific and Technical Information of China (English)

    柴涵婧; 方群; 石晓梅; 黄轩; 勾晨雨; 罗艳敏

    2013-01-01

    Objective To assess the imprinted gene IGF-2 and CDKN1 C expression in placenta of monozygotic twins with selective intrauterine growth restriction (sIUGR),and investigate the correlation between this disease and IGF -2 or CDKN1C.Methods Placental tissues and clinical data were collected from 20 pairs of monochorionic diamniotic twins,in which 10 cases of sIUGR as the study group,10 cases of normal twins as the control group.The zygotic characteristics were identified by STR assay.Real-time quantitative PCR method was used to measure the IGF-2 and CDKN1C mRNA expression in placental tissues.Results The 20 pairs of twins were all monozygotic twins.Significantly earlier delivery was observed in study group than that in control group (P < 0.05).Significantly larger birth weigbt was revealed in large twins than that in small twins in the both groups,which was significantly more prominent in study group (P <0.01).In the group of sIUGR,significantly lower IGF-2 mRNA expression was observed in small twins than that in large twins (P < 0.05).There was no significant difference in CDKNIC transcription level between the large and small twins in either study group or control group (P > O.05).Conclusion IGF-2 mRNA is down-regulated in the placenta of small twins in sIUGR,thus may interfere with normal fetal growth by affecting placental growth and reduced placental nutrient transport function,leading to the selective intrauterine growth restriction.There is no correlation between the CDKN1C gene and MCDA monozygotic twins with sIUGR.%目的 探讨印迹基因IGF-2、CDKN1C在单绒毛膜双羊膜囊(MCDA)单合子双胎选择性宫内生长受限两胎胎盘中的表达,进而探讨IGF-2、CDKN1C基因与该疾病间的关系.方法 收集20对MCDA双胎的临床资料及胎盘组织,其中双胎选择性宫内生长受限10例(sIUGR组),正常双胎10例作为对照组,用实时荧光定量PCR方法检测胎盘组织中的IGF-2、CDKN1C mRNA表达情况,且

  5. The Twin Research Registry at SRI International.

    Science.gov (United States)

    Krasnow, Ruth E; Jack, Lisa M; Lessov-Schlaggar, Christina N; Bergen, Andrew W; Swan, Gary E

    2013-02-01

    The Twin Research Registry (TRR) at SRI International is a community-based registry of twins established in 1995 by advertising in local media, mainly on radio stations and in newspapers. As of August 2012, there are 3,120 same- and opposite-sex twins enrolled; 86% are 18 years of age or older (mean age 44.9 years, SD 16.9 years) and 14% less than 18 years of age (mean age 8.9 years, SD 4.5); 67% are female, and 62% are self-reported monozygotic (MZ). More than 1,375 twins have participated in studies over the last 15 years in collaboration with the University of California Medical Center in San Francisco, the University of Texas MD Anderson Cancer Center, and the Stanford University School of Medicine. Each twin completes a registration form with basic demographic information either online at the TRR Web site or during a telephone interview. Contact is maintained with members by means of annual newsletters and birthday cards. The managers of the TRR protect the confidentiality of twin data with established policies; no information is given to other researchers without prior permission from the twins; and all methods and procedures are reviewed by an Institutional Review Board. Phenotypes studied thus far include those related to nicotine metabolism, mutagen sensitivity, pain response before and after administration of an opioid, and a variety of immunological responses to environmental exposures, including second-hand smoke and vaccination for seasonal influenza virus and Varicella zoster virus. Twins in the TRR have participated in studies of complex, clinically relevant phenotypes that would not be feasible to measure in larger samples.

  6. Twin Studies in Autism: What Might They Say about Genetic and Environmental Influences

    Science.gov (United States)

    Anderson, George M.

    2012-01-01

    Genetic and epigenetic differences exist within monozygote twin-pairs and might be especially important in the expression of autism. Assuming phenotypic differences between monozygotic twins are due to environmental influences may lead to mistaken conclusions regarding the relative genetic and environmental contribution to autism risk.

  7. Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination.

    Science.gov (United States)

    Ray, Pierre F; Frydman, Nelly; Attié, Tania; Hamamah, Samir; Kerbrat, Violaine; Tachdjian, Gérard; Romana, Serge; Vekemans, Michel; Frydman, René; Munnich, Arnold

    2002-07-01

    Two healthy sisters with a familial history of mental retardation were referred to our centre for preimplantation genetic diagnosis (PGD). Their two brothers showed severe mental retardation. The molecular basis for their disorder could not be identified, but one of the sisters and the mother presented a highly skewed pattern of X-inactivation reinforcing the likelihood of an X-linked mode of inheritance. Both sisters requested PGD to avoid the abortion of potentially affected male fetuses. PGD for sex by fluorescent in-situ hybridization was carried out for the first sister and resulted in the birth of a female child. The second sister and her partner, whose niece had cystic fibrosis (CF), were tested for CF mutations, and were both found to be deltaF508 heterozygous. We developed an efficient single cell PCR protocol for the simultaneous amplification of the CF (deltadeltaF508) locus as well as the X-linked amelogenin gene and its highly homologous pseudogene on the Y chromosome. Two PGD cycles were carried out to screen against male and deltaF508 homozygous deleted embryos. In each case several embryos could be selected for transfer and the second cycle resulted in a twin pregnancy followed by the birth of two healthy female infants.

  8. Zygosity differences in height and body mass index of twins from infancy to old age: A study of the CODATwins project

    Science.gov (United States)

    Jelenkovic, Aline; Yokoyama, Yoshie; Sund, Reijo; Honda, Chika; Bogl, Leonie H; Aaltonen, Sari; Ji, Fuling; Ning, Feng; Pang, Zengchang; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Burt, S Alexandra; Klump, Kelly L; Medland, Sarah E; Montgomery, Grant W; Kandler, Christian; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Saudino, Kimberly J; Dubois, Lise; Boivin, Michel; Tarnoki, Adam D; Tarnoki, David L; Haworth, Claire MA; Plomin, Robert; Öncel, Sevgi Y; Aliev, Fazil; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Craig, Jeffrey M; Saffery, Richard; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Rijsdijk, Fruhling; Spector, Timothy; Mangino, Massimo; Lachance, Genevieve; Gatz, Margaret; Butler, David A; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Freitas, Duarte L; Maia, José Antonio; Harden, K Paige; Tucker-Drob, Elliot M; Kim, Bia; Chong, Youngsook; Hong, Changhee; Shin, Hyun Jung; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth JF; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; He, Mingguang; Ding, Xiaohu; Chang, Billy; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Aujard, Kelly; Magnusson, Patrik KE; Pedersen, Nancy L; Aslan, Anna K Dahl; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Baker, Laura A; Tuvblad, Catherine; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Heikkilä, Kauko; Tan, Qihua; Zhang, Dongfeng; Swan, Gary E; Krasnow, Ruth; Jang, Kerry L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Lichtenstein, Paul; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Tynelius, Per; Duncan, Glen E; Buchwald, Dedra; Corley, Robin P; Huibregtse, Brooke M; Nelson, Tracy L; Whitfield, Keith E; Franz, Carol E; Kremen, William S; Lyons, Michael J; Ooki, Syuichi; Brandt, Ingunn; Nilsen, Thomas Sevenius; Inui, Fujio; Watanabe, Mikio; Bartels, Meike; van Beijsterveldt, Toos CEM; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; Rebato, Esther; Martin, Nicholas G; Iwatani, Yoshinori; Hayakawa, Kazuo; Sung, Joohon; Harris, Jennifer R; Willemsen, Gonneke; Busjahn, Andreas; Goldberg, Jack H; Rasmussen, Finn; Hur, Yoon-Mi; Boomsma, Dorret I; Sørensen, Thorkild IA; Kaprio, Jaakko; Silventoinen, Karri

    2015-01-01

    A trend towards greater body size in dizygotic (DZ) than in monozygotic (MZ) twins has been suggested by some but not all studies, and this difference may also vary by age. We analyzed zygosity differences in means and variances of height and body mass index (BMI) among male and female twins from infancy to old age. Data were derived from an international database of 54 twin cohorts participating in the CODATwins project and included 842,951 height and BMI measurements from age 1 to 102 years. The results showed that DZ twins were consistently taller than MZ twins, with differences of up to 2.0 cm in childhood and adolescence and up to 0.9 cm in adulthood. Likewise, a greater mean BMI of up to 0.3 kg/m2 in childhood and adolescence and up to 0.2 kg/m2 in adulthood was observed in DZ twins, although the pattern was less consistent. DZ twins presented up to 1.7% greater height and 1.9% greater BMI than MZ twins; these percentage differences were largest in middle and late childhood and decreased with age in both sexes. The variance of height was similar in MZ and DZ twins at most ages. In contrast the variance of BMI was significantly higher in DZ than in MZ twins particularly in childhood. In conclusion, DZ twins were generally taller and had greater BMI than MZ twins, but the differences decreased with age in both sexes. PMID:26337138

  9. College-age twins: university admission policies / twin research: birth weight and neuromotor performance; transfusion syndrome markers; vanishing twins and fetal sex determination; mz twin discordance for wilson's disease / media: big at birth; planned separation of conjoined twins; x factor twins; Cinema: the identical.

    Science.gov (United States)

    Segal, Nancy L

    2014-12-01

    There is a lack of research findings addressing the unique college admissions issues faced by twins and other multiples. The advantages and disadvantage twins face, as reported by college administrators, twins and families are reviewed. Next, recent research addressing twins' birth weight and neuromotor performance, transfusion syndrome markers, the vanishing twin syndrome and monozygotic (MZ) twin discordance for Wilson's disease is described. News items concerning the birth of unusually large twins, the planned separation of conjoined twins, twin participants in the X Factor games and a film, The Identical, are also summarized.

  10. The CODATwins Project: The Cohort Description of Collaborative Project of Development of Anthropometrical Measures in Twins to Study Macro-Environmental Variation in Genetic and Environmental Effects on Anthropometric Traits.

    Science.gov (United States)

    Silventoinen, Karri; Jelenkovic, Aline; Sund, Reijo; Honda, Chika; Aaltonen, Sari; Yokoyama, Yoshie; Tarnoki, Adam D; Tarnoki, David L; Ning, Feng; Ji, Fuling; Pang, Zengchang; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Burt, S Alexandra; Klump, Kelly L; Medland, Sarah E; Montgomery, Grant W; Kandler, Christian; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Saudino, Kimberly J; Dubois, Lise; Boivin, Michel; Haworth, Claire M A; Plomin, Robert; Öncel, Sevgi Y; Aliev, Fazil; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Craig, Jeffrey M; Saffery, Richard; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Spector, Timothy; Mangino, Massimo; Lachance, Genevieve; Gatz, Margaret; Butler, David A; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Freitas, Duarte L; Maia, José Antonio; Harden, K Paige; Tucker-Drob, Elliot M; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Hong, Changhee; Chong, Youngsook; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth J F; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; He, Mingguang; Ding, Xiaohu; Chang, Billy; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Aujard, Kelly; Magnusson, Patrik K E; Pedersen, Nancy L; Aslan, Anna K Dahl; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Baker, Laura A; Tuvblad, Catherine; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Heikkilä, Kauko; Tan, Qihua; Zhang, Dongfeng; Swan, Gary E; Krasnow, Ruth; Jang, Kerry L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Lichtenstein, Paul; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Tynelius, Per; Duncan, Glen E; Buchwald, Dedra; Corley, Robin P; Huibregtse, Brooke M; Nelson, Tracy L; Whitfield, Keith E; Franz, Carol E; Kremen, William S; Lyons, Michael J; Ooki, Syuichi; Brandt, Ingunn; Nilsen, Thomas Sevenius; Inui, Fujio; Watanabe, Mikio; Bartels, Meike; van Beijsterveldt, Toos C E M; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; Rebato, Esther; Martin, Nicholas G; Iwatani, Yoshinori; Hayakawa, Kazuo; Rasmussen, Finn; Sung, Joohon; Harris, Jennifer R; Willemsen, Gonneke; Busjahn, Andreas; Goldberg, Jack H; Boomsma, Dorret I; Hur, Yoon-Mi; Sørensen, Thorkild I A; Kaprio, Jaakko

    2015-08-01

    For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically (1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and (2) to study the effects of birth-related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects, including both monozygotic (MZ) and dizygotic (DZ) twins, using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes.

  11. [The Chinese national twin cohort: an update].

    Science.gov (United States)

    Gao, W J; Li, L M

    2017-06-10

    The importance of large cohort studies in China has been increasingly emphasized. As special group in the population, twins provide excellent natural resources since they share the same birthday, maternal intrauterine environment and early family environment. Twin cohorts are unique for and benefit on controlling the confounding factors as age, gender (same-sex twins), genetic background (monozygotic twins) or early environment (being raised together) in the etiological studies on complex diseases. In this review, we briefly introduce the objectives, current situation, challenges and opportunities related to the Chinese national twin cohort, focusing on the characteristics of twins that are different from other groups in the general population.

  12. Identical twins in forensic genetics - Epidemiology and risk based estimation of weight of evidence.

    Science.gov (United States)

    Tvedebrink, Torben; Morling, Niels

    2015-12-01

    The increase in the number of forensic genetic loci used for identification purposes results in infinitesimal random match probabilities. These probabilities are computed under assumptions made for rather simple population genetic models. Often, the forensic expert reports likelihood ratios, where the alternative hypothesis is assumed not to encompass close relatives. However, this approach implies that important factors present in real human populations are discarded. This approach may be very unfavourable to the defendant. In this paper, we discuss some important aspects concerning the closest familial relationship, i.e., identical (monozygotic) twins, when reporting the weight of evidence. This can be done even when the suspect has no knowledge of an identical twin or when official records hold no twin information about the suspect. The derived expressions are not original as several authors previously have published results accounting for close familial relationships. However, we revisit the discussion to increase the awareness among forensic genetic practitioners and include new information on medical and societal factors to assess the risk of not considering a monozygotic twin as the true perpetrator. If accounting for a monozygotic twin in the weight of evidence, it implies that the likelihood ratio is truncated at a maximal value depending on the prevalence of monozygotic twins and the societal efficiency of recognising a monozygotic twin. If a monozygotic twin is considered as an alternative proposition, then data relevant for the Danish society suggests that the threshold of likelihood ratios should approximately be between 150,000 and 2,000,000 in order to take the risk of an unrecognised identical, monozygotic twin into consideration. In other societies, the threshold of the likelihood ratio in crime cases may reach other, often lower, values depending on the recognition of monozygotic twins and the age of the suspect. In general, more strictly kept

  13. Craniofacial anomalies in twins.

    Science.gov (United States)

    Keusch, C F; Mulliken, J B; Kaplan, L C

    1991-01-01

    Studies of twins provide insight into the relative contribution of genetic and environmental factors in the causality of structural anomalies. Thirty-five affected twin pairs were identified from a group of 1114 patients with congenital craniofacial deformities evaluated from 1972 to 1989. Forty-three of these 70 twins exhibited one or more craniofacial anomalies; these were analyzed for dysmorphic characteristics, zygosity, concordance, and family history. The anomalies were categorized into two groups: malformations and deformations. The malformations (n = 36) included hemifacial microsomia (n = 10), cleft lip and palate (n = 8), cleft palate (n = 4), rare facial cleft (n = 2), craniosynostosis (n = 2), Binder syndrome (n = 2), Treacher Collins syndrome (n = 2), craniopagus (n = 2), CHARGE association (n = 1), frontonasal dysplasia (n = 2), and constricted ears (n = 1). The deformations (n = 7) included plagiocephaly (n = 5), hemifacial hypoplasia (n = 1), and micrognathia (n = 1). Twenty-one monozygotic and 14 dizygotic twin pairs were identified. The concordance rate was 33 percent for monozygotic twins and 7 percent for dizygotic twins.(ABSTRACT TRUNCATED AT 250 WORDS)

  14. An 11-year follow-up study of neonatal-onset, bath-induced alternating hemiplegia of childhood in twins.

    Science.gov (United States)

    Incorpora, Gemma; Pavone, Piero; Polizzi, Agata; Cocuzza, Mariadonatella; Privitera, Michael; Pavone, Lorenzo; Ruggieri, Martino

    2012-05-01

    The authors previously reported on the initial manifestations in a set of female twins, who presented soon after birth with bath-induced paroxysmal events each time they were immersed in a warm water bath. These episodes progressively ceased by the age of 36 months, replaced by paroxysmal episodes of alternating hemiplegia unrelated to water immersion. By age 4 years, the twins developed the classic features of alternating hemiplegia of childhood. Clinical outcomes at the age of 11 years are now reported. Standard and video-electroencephalograms showed a large, slow background activity followed by lower amplitude waves without focal abnormalities or other abnormal findings. This represents the first report on (a) alternating hemiplegia of childhood started with bath-induced paroxysmal episodes; (b) this condition in monozygotic twins; and (c) an 11-year follow-up study in which the twins continue to experience episodes of alternating hemiplegia in the setting of baseline cognitive impairment without epileptic episodes.

  15. Ecosensitivity and genetic polymorphism of somatic traits in the perinatal development of twins.

    Science.gov (United States)

    Waszak, Małgorzata; Cieślik, Krystyna; Skrzypczak-Zielińska, Marzena; Szalata, Marlena; Wielgus, Karolina; Kempiak, Joanna; Bręborowicz, Grzegorz; Słomski, Ryszard

    2016-04-01

    In view of criticism regarding the usefulness of heritability coefficients, the aim of this study was to analyze separately the information on genetic and environmental variability. Such an approach, based on the normalization of trait's variability for its value, is determined by the coefficients of genetic polymorphism (Pg) and ecosensitivity (De). The studied material included 1263 twin pairs of both sexes (among them 424 pairs of monozygotic twins and 839 pairs of dizygotic twins) born between the 22nd and 41st week of gestation. Variability of six somatic traits was analyzed. The zygosity of same-sex twins was determined based on the polymorphism of DNA from lymphocytes of the umbilical cord blood, obtained at birth. The coefficients of genetic polymorphism and ecosensitivity for analyzed traits of male and female twins born at various months of gestation were calculated. Our study revealed that a contribution of the genetic component predominated over that of the environmental component in determining the phenotypic variability of somatic traits of newborns from twin pregnancies. The genetically determined phenotypic variability in male twins was greater than in the females. The genetic polymorphism and ecosensitivity of somatic traits were relatively stable during the period of fetal ontogeny analyzed in this study. Only in the case of body weight, a slight increase in the genetic contribution of polygenes to the phenotypic variance could be observed with gestational age, along with a slight decrease in the influence of environmental factors. Copyright © 2015 Elsevier GmbH. All rights reserved.

  16. Examination of the Relationship between Oral Health and Arterial Sclerosis without Genetic Confounding through the Study of Older Japanese Twins.

    Directory of Open Access Journals (Sweden)

    Yuko Kurushima

    Full Text Available Although researchers have recently demonstrated a relationship between oral health and arterial sclerosis, the genetic contribution to this relationship has been ignored even though genetic factors are expected to have some effect on various diseases. The aim of this study was to evaluate oral health as a significant risk factor related to arterial sclerosis after eliminating genetic confounding through study of older Japanese twins.Medical and dental surveys were conducted individually for 106 Japanese twin pairs over the age of 50 years. Maximal carotid intima-media thickness (IMT-Cmax was measured as a surrogate marker of arterial sclerosis. IMT-Cmax > 1.0 mm was diagnosed as arterial sclerosis. All of the twins were examined for the number of remaining teeth, masticatory performance, and periodontal status. We evaluated each measurement related with IMT-Cmax and arterial sclerosis using generalized estimating equations analysis adjusted for potential risk factors. For non-smoking monozygotic twins, a regression analysis using a "between within" model was conducted to evaluate the relationship between IMT-Cmax and the number of teeth as the environmental factor controlling genetic and familial confounding.We examined 91 monozygotic and 15 dizygotic twin pairs (males: 42, females: 64 with a mean (± standard deviation age of 67.4 ± 10.0 years. Out of all of the oral health-related measurements collected, only the number of teeth was significantly related to arterial sclerosis (odds ratio: 0.72, 95% confidence interval: 0.52-0.99 per five teeth. Regression analysis showed a significant association between the IMT-Cmax and the number of teeth as an environmental factor (p = 0.037.Analysis of monozygotic twins older than 50 years of age showed that having fewer teeth could be a significant environmental factor related to arterial sclerosis, even after controlling for genetic and familial confounding.

  17. Examination of the Relationship between Oral Health and Arterial Sclerosis without Genetic Confounding through the Study of Older Japanese Twins.

    Science.gov (United States)

    Kurushima, Yuko; Ikebe, Kazunori; Matsuda, Ken-Ichi; Enoki, Kaori; Ogata, Soshiro; Yamashita, Motozo; Murakami, Shinya; Maeda, Yoshinobu

    2015-01-01

    Although researchers have recently demonstrated a relationship between oral health and arterial sclerosis, the genetic contribution to this relationship has been ignored even though genetic factors are expected to have some effect on various diseases. The aim of this study was to evaluate oral health as a significant risk factor related to arterial sclerosis after eliminating genetic confounding through study of older Japanese twins. Medical and dental surveys were conducted individually for 106 Japanese twin pairs over the age of 50 years. Maximal carotid intima-media thickness (IMT-Cmax) was measured as a surrogate marker of arterial sclerosis. IMT-Cmax > 1.0 mm was diagnosed as arterial sclerosis. All of the twins were examined for the number of remaining teeth, masticatory performance, and periodontal status. We evaluated each measurement related with IMT-Cmax and arterial sclerosis using generalized estimating equations analysis adjusted for potential risk factors. For non-smoking monozygotic twins, a regression analysis using a "between within" model was conducted to evaluate the relationship between IMT-Cmax and the number of teeth as the environmental factor controlling genetic and familial confounding. We examined 91 monozygotic and 15 dizygotic twin pairs (males: 42, females: 64) with a mean (± standard deviation) age of 67.4 ± 10.0 years. Out of all of the oral health-related measurements collected, only the number of teeth was significantly related to arterial sclerosis (odds ratio: 0.72, 95% confidence interval: 0.52-0.99 per five teeth). Regression analysis showed a significant association between the IMT-Cmax and the number of teeth as an environmental factor (p = 0.037). Analysis of monozygotic twins older than 50 years of age showed that having fewer teeth could be a significant environmental factor related to arterial sclerosis, even after controlling for genetic and familial confounding.

  18. Examination of the Relationship between Oral Health and Arterial Sclerosis without Genetic Confounding through the Study of Older Japanese Twins

    Science.gov (United States)

    Kurushima, Yuko; Ikebe, Kazunori; Matsuda, Ken-ichi; Enoki, Kaori; Ogata, Soshiro; Yamashita, Motozo; Murakami, Shinya; Maeda, Yoshinobu

    2015-01-01

    Objective Although researchers have recently demonstrated a relationship between oral health and arterial sclerosis, the genetic contribution to this relationship has been ignored even though genetic factors are expected to have some effect on various diseases. The aim of this study was to evaluate oral health as a significant risk factor related to arterial sclerosis after eliminating genetic confounding through study of older Japanese twins. Subjects and Methods Medical and dental surveys were conducted individually for 106 Japanese twin pairs over the age of 50 years. Maximal carotid intima-media thickness (IMT-Cmax) was measured as a surrogate marker of arterial sclerosis. IMT-Cmax > 1.0 mm was diagnosed as arterial sclerosis. All of the twins were examined for the number of remaining teeth, masticatory performance, and periodontal status. We evaluated each measurement related with IMT-Cmax and arterial sclerosis using generalized estimating equations analysis adjusted for potential risk factors. For non-smoking monozygotic twins, a regression analysis using a “between within” model was conducted to evaluate the relationship between IMT-Cmax and the number of teeth as the environmental factor controlling genetic and familial confounding. Results We examined 91 monozygotic and 15 dizygotic twin pairs (males: 42, females: 64) with a mean (± standard deviation) age of 67.4 ± 10.0 years. Out of all of the oral health-related measurements collected, only the number of teeth was significantly related to arterial sclerosis (odds ratio: 0.72, 95% confidence interval: 0.52-0.99 per five teeth). Regression analysis showed a significant association between the IMT-Cmax and the number of teeth as an environmental factor (p = 0.037). Conclusions Analysis of monozygotic twins older than 50 years of age showed that having fewer teeth could be a significant environmental factor related to arterial sclerosis, even after controlling for genetic and familial confounding

  19. Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility.

    Science.gov (United States)

    Mbarek, Hamdi; Steinberg, Stacy; Nyholt, Dale R; Gordon, Scott D; Miller, Michael B; McRae, Allan F; Hottenga, Jouke Jan; Day, Felix R; Willemsen, Gonneke; de Geus, Eco J; Davies, Gareth E; Martin, Hilary C; Penninx, Brenda W; Jansen, Rick; McAloney, Kerrie; Vink, Jacqueline M; Kaprio, Jaakko; Plomin, Robert; Spector, Tim D; Magnusson, Patrik K; Reversade, Bruno; Harris, R Alan; Aagaard, Kjersti; Kristjansson, Ragnar P; Olafsson, Isleifur; Eyjolfsson, Gudmundur Ingi; Sigurdardottir, Olof; Iacono, William G; Lambalk, Cornelis B; Montgomery, Grant W; McGue, Matt; Ong, Ken K; Perry, John R B; Martin, Nicholas G; Stefánsson, Hreinn; Stefánsson, Kari; Boomsma, Dorret I

    2016-05-01

    Spontaneous dizygotic (DZ) twinning occurs in 1%-4% of women, with familial clustering and unknown physiological pathways and genetic origin. DZ twinning might index increased fertility and has distinct health implications for mother and child. We performed a GWAS in 1,980 mothers of spontaneous DZ twins and 12,953 control subjects. Findings were replicated in a large Icelandic cohort and tested for association across a broad range of fertility traits in women. Two SNPs were identified (rs11031006 near FSHB, p = 1.54 × 10(-9), and rs17293443 in SMAD3, p = 1.57 × 10(-8)) and replicated (p = 3 × 10(-3) and p = 1.44 × 10(-4), respectively). Based on ∼90,000 births in Iceland, the risk of a mother delivering twins increased by 18% for each copy of allele rs11031006-G and 9% for rs17293443-C. A higher polygenic risk score (PRS) for DZ twinning, calculated based on the results of the DZ twinning GWAS, was significantly associated with DZ twinning in Iceland (p = 0.001). A higher PRS was also associated with having children (p = 0.01), greater lifetime parity (p = 0.03), and earlier age at first child (p = 0.02). Allele rs11031006-G was associated with higher serum FSH levels, earlier age at menarche, earlier age at first child, higher lifetime parity, lower PCOS risk, and earlier age at menopause. Conversely, rs17293443-C was associated with later age at last child. We identified robust genetic risk variants for DZ twinning: one near FSHB and a second within SMAD3, the product of which plays an important role in gonadal responsiveness to FSH. These loci contribute to crucial aspects of reproductive capacity and health.

  20. Mitral valve regurgitation in twins

    DEFF Research Database (Denmark)

    Bakkestrøm, Rine; Larsen, Lisbeth Aagaard; Møller, Jacob Eifer

    2016-01-01

    BACKGROUND: Smaller observational studies have suggested familial clustering of mitral regurgitation (MR). Using a large twin cohort, the aims were to assess MR concordance rates and assess mortality in MR twins and unaffected cotwins. METHODS: Through the Danish Twin Registry, twins...... with an International Classification of Diseases, Eighth Revision and Tenth Revision diagnosis code of MR born 1880-1989 were identified and proband-wise concordance rates were calculated. To assess whether having a cotwin with MR affected survival, 10 matched twins without MR (n = 5,575) were selected for each MR twin...... (n = 562), and all-cause mortality rates were assessed. RESULTS: Among the 87,432 twins alive January 1, 1977, or later, 494 (0.57%) MR individuals were identified. Six MR concordant pairs were found, of which 3 were monozygotic. Proband-wise concordance rate when accounting for right censoring...

  1. Oliver Sacks: Our Correspondence About Twins/Twin Research: Vanishing Twins Syndrome; Discordant Sex in MZ Twins; Pregnancy Outcomes in IVF and ICSI Conceived Twins/Print and Media: Superfetated Twins; Twins Discordant for Smoking; Twins in Fashion; Yale University Twin Hockey Players; Conjoined Twin-Visiting Professor.

    Science.gov (United States)

    Segal, Nancy L

    2017-08-01

    The late neurologist and author, Oliver Sacks, published an insightful 1986 review of Marjorie Wallace's book, The Silent Twins, in the New York Times. Taking exception to his assertion about Sir Francis Galton, I wrote a letter to the Times' editor. The letter was unpublished, but it brought a wonderful response from Sacks himself that is reproduced and examined. Next, brief reviews of twin research concerning the vanishing twin syndrome (VTS), discordant sex in a monozygotic (MZ) twin pair, and multiple pregnancy outcomes from assisted reproductive technology (ART) are presented. This section is followed by popular coverage of superfetated twins, smoking-discordant co-twins, twins in fashion, Yale University twin hockey players, and a visiting professor who was a conjoined twin.

  2. Genetic influences on alcohol use behaviors have diverging developmental trajectories: a prospective study among male and female twins.

    Science.gov (United States)

    Meyers, Jacquelyn L; Salvatore, Jessica E; Vuoksimaa, Eero; Korhonen, Tellervo; Pulkkinen, Lea; Rose, Richard J; Kaprio, Jaakko; Dick, Danielle M

    2014-11-01

    Both alcohol-specific genetic factors and genetic factors related to externalizing behavior influence problematic alcohol use. Little is known, however, about the etiologic role of these 2 components of genetic risk on alcohol-related behaviors across development. Prior studies conducted in a male cohort of twins suggest that externalizing genetic factors are important for predicting heavy alcohol use in adolescence, whereas alcohol-specific genetic factors increase in importance during the transition to adulthood. In this report, we studied twin brothers and sisters and brother-sister twin pairs to examine such developmental trajectories and investigate whether sex and cotwin sex effects modify these genetic influences. We used prospective, longitudinal twin data collected between ages 12 and 22 within the population-based FinnTwin12 cohort study (analytic n = 1,864). Our dependent measures of alcohol use behaviors included alcohol initiation (age 12), intoxication frequency (ages 14 and 17), and alcohol dependence criteria (age 22). Each individual's genetic risk of alcohol use disorders (AUD-GR) was indexed by his/her parents' and cotwin's DSM-IV Alcohol Dependence (AD) criterion counts. Likewise, each individual's genetic risk of externalizing disorders (EXT-GR) was indexed with a composite measure of parents' and cotwin's DSM-IV Conduct Disorder and Antisocial Personality Disorder criterion counts. EXT-GR was most strongly related to alcohol use behaviors during adolescence, while AUD-GR was most strongly related to alcohol problems in young adulthood. Further, sex of the twin and sex of the cotwin significantly moderated the associations between genetic risk and alcohol use behaviors across development: AUD-GR influenced early adolescent alcohol use behaviors in females more than in males, and EXT-GR influenced age 22 AD more in males than in females. In addition, the associations of AUD-GR and EXT-GR with intoxication frequency were greater among 14- and

  3. Class - III malocclusion: Genetics or environment? A twins study

    Directory of Open Access Journals (Sweden)

    Jena A

    2005-03-01

    Full Text Available Etiology of class-III malocclusion is generally believed to be genetic. A wide range of environmental factors have been suggested as contributing factors for the development of class-III malocclusion. Twin study is one of the most effective methods available for investigating genetically determined variables of malocclusion. Discordancy for class-III malocclusion is a frequent finding in dizygotic twins. However, class-III malocclusion discordancy in monozygotic twins is a rare finding. The purpose of this study of monozygotic twins is to assess the genetic and environmental components of variation within the cranio-dento-facial complex.

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

    Science.gov (United States)

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

    2015-03-01

    This study used a twin paradigm to examine genetic and environmental contributions to pain catastrophizing and the observed association between pain catastrophizing and cold-pressor task (CPT) outcomes. Male and female monozygotic (n = 206) and dizygotic twins (n = 194) from the University of Washington Twin Registry completed a measure of pain catastrophizing and performed a CPT challenge. As expected, pain catastrophizing emerged as a significant predictor of several CPT outcomes, including cold-pressor Immersion Tolerance, Pain Tolerance, and Delayed Pain Rating. The heritability estimate for pain catastrophizing was found to be 37% with the remaining 63% of variance attributable to unique environmental influence. Additionally, the observed associations between pain catastrophizing and CPT outcomes were not found attributable to shared genetics or environmental exposure, which suggests a direct relationship between catastrophizing and experimental pain outcomes. This study is the first to examine the heritability of pain catastrophizing and potential processes by which pain catastrophizing is related to experimental pain response.

  5. Fullerton Virtual Twin Study.

    Science.gov (United States)

    Segal, Nancy L

    2006-12-01

    Virtual twins (VTs; same-age unrelated siblings reared together from early infancy) have been studied at California State University (CSU), Fullerton since 1991. The current sample includes over 130 pairs. Past and current research have research have focused on siblings' similarities and differences in general intelligence and body size. Future research in these areas will continue as new pairs continue to be identified. These studies will be supplemented by analyses of personality, social relations and adjustment using monozygotic (MZ) twins, dizygotic (DZ) twins, full siblings and friends, as well as new VTs, who have participated in Twins, Adoptees, Peers and Siblings (TAPS), a collaborative project conducted between CSU Fullerton and the University of San Francisco, from 2002 to 2006.

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

    DEFF Research Database (Denmark)

    Li, Shuxia; Duan, Hongmei; Pang, Zengchang

    2013-01-01

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

  7. Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort.

    Science.gov (United States)

    Maas, Iris Lianne; Brüggemann, Petra; Requena, Teresa; Bulla, Jan; Edvall, Niklas K; Hjelmborg, Jacob V B; Szczepek, Agnieszka J; Canlon, Barbara; Mazurek, Birgit; Lopez-Escamez, Jose A; Cederroth, Christopher R

    2017-09-01

    Genetic contributions to tinnitus have been difficult to determine due to the heterogeneity of the condition and its broad etiology. Here, we evaluated the genetic and nongenetic influences on self-reported tinnitus from the Swedish Twin Registry (STR). Cross-sectional data from the STR was obtained. Casewise concordance rates (the risk of one twin being affected given that his/her twin partner has tinnitus) were compared for monozygotic (MZ) and dizygotic (DZ) twin pairs (N = 10,464 concordant and discordant twin pairs) and heritability coefficients (the proportion of the total variance attributable to genetic factors) were calculated using biometrical model fitting procedures. Stratification of tinnitus cases into subtypes according to laterality (unilateral versus bilateral) revealed that heritability of bilateral tinnitus was 0.56; however, it was 0.27 for unilateral tinnitus. Heritability was greater in men (0.68) than in women (0.41). However, when female pairs younger than 40 years of age were selected, heritability of 0.62 was achieved with negligible effects of shared environment. Unlike unilateral tinnitus, bilateral tinnitus is influenced by genetic factors and might constitute a genetic subtype. Overall, our study provides the initial evidence for a tinnitus phenotype with a genetic influence.Genet Med advance online publication 23 March 2017.

  8. X Chromosome inactivation pattern is not associated with interindividual variations in thyroid volume: a study of euthyroid danish female twins

    DEFF Research Database (Denmark)

    Brix, Thomas Heiberg; Hansen, Pia Skov; Bennedbak, Finn Noe

    2009-01-01

    Ahigher frequency of skewed X chromosome inactivation (XCI) is found in patients with autoimmune thyroid disease (AITD) than in controls. Although goitre is often present in AITD, a recent study failed to show an association between XCI and clinically overt nontoxic goitre. However, the etiology...... of overt goitre is complex, and the mechanisms influencing thyroid volume may involve fewer factors than the mechanisms underlying overt goitre. In order to examine the impact of XCI on thyroid volume in euthyroid females, we studied whether within cohort (n = 138) and within twin pair (n = 69) differences...

  9. Desenvolvimento do sistema fonológico de gêmeos monozigóticos com desvio fonológico: correlação a fatores genéticos e ambientais Developming the phonological systems of monozygotic twins with phonological disorders: correlation with genetic and environmental factors

    Directory of Open Access Journals (Sweden)

    Danúbia Emanuele Weber

    2007-03-01

    Full Text Available OBJETIVO: descrever os sistemas fonológicos de irmãos gêmeos monozigóticos com desvio fonológico e analisar a evolução da terapia fonoaudiológica após a aplicação do Modelo de Oposições Máximas Modificado a fim de investigar a influência de fatores genéticos e ambientais na instalação e manutenção das desordens fonológicas. MÉTODOS: foram comparadas as avaliações fonológicas iniciais, os sons-alvo utilizados no planejamento terapêutico, e as avaliações fonológicas finais de cada ano de tratamento de dois sujeitos gêmeos monozigóticos do gênero masculino, com idade de seis anos e cinco meses no início da pesquisa, e com diagnóstico de desvio fonológico. Os meninos receberam atendimento de agosto de 2002 a dezembro de 2004 por meio do Modelo de Oposições Máximas Modificado. Todos os materiais foram coletados do banco de dados de um projeto desenvolvido no curso do Fonoaudiologia da Universidade Federal de Santa Maria. RESULTADOS: grandes semelhanças foram verificadas nos sistemas fonológicos dos dois sujeitos no início, durante a evolução terapêutica e no final da terapia fonológica, apesar não terem sido utilizados necessariamente os mesmos sons-alvo no tratamento. Os meninos adquiriram os sons ausentes e parcialmente adquiridos, apresentando generalização nas diversas situações possíveis, o que comprovou a eficácia do modelo terapêutico aplicado. CONCLUSÃO: a influência genética interfere na instalação e manutenção das desordens fonológicas, porém os fatores ambientais não podem ser descartados.PURPOSE: to describe the phonological systems of monozygotic twins both having phonological disorders and to analyze the gradual development of the speech therapy after applying Modified Maximal Opposition Model in order to investigate the influence of genetic and environmental factors on the outset and continuity (maintenance of phonological disorders. METHODS: the initial phonological

  10. The genetic relationship between cannabis and tobacco cigarette use in European- and African-American female twins and siblings.

    Science.gov (United States)

    Agrawal, Arpana; Grant, Julia D; Lynskey, Michael T; Madden, Pamela A F; Heath, Andrew C; Bucholz, Kathleen K; Sartor, Carolyn E

    2016-06-01

    Use of cigarettes and cannabis frequently co-occurs. We examine the role of genetic and environmental influences on variation in and covariation between tobacco cigarette and cannabis use across European-American (EA) and African-American (AA) women. Data on lifetime cannabis and cigarette use were drawn from interviews of 956 AA and 3557 EA young adult female twins and non-twin same sex female full siblings. Twin modeling was used to decompose variance in and covariance between cigarette and cannabis use into additive genetic, shared, special twin and non-shared environmental sources. Cigarette use was more common in EAs (75.3%, 95% C.I. 73.8-76.7%) than AAs (64.2%, 95% C.I. 61.2-67.2%) while cannabis use was marginally more commonly reported by AAs (55.5%, 95% C.I. 52.5-58.8%) than EAs (52.4%, 95% C.I. 50.7-54.0%). Additive genetic factors were responsible for 43-66% of the variance in cigarette and cannabis use. Broad shared environmental factors (shared+special twin) played a more significant role in EA (23-29%) than AA (2-15%) women. In AA women, the influence of non-shared environment was more pronounced (42-45% vs. 11-19% in EA women). There was strong evidence for the same familial influences underlying use of both substances (rA=0.82-0.89; rC+T=0.70-0.75). Non-shared environmental factors were also correlated but less so (rE=0.48-0.66). No racial/ethnic differences were apparent in these sources of covariation. Heritability of cigarette and cannabis use is comparable across racial/ethnic groups. Differences in the contribution of shared and non-shared environmental influences indicate that different factors may shape substance use in EA and AA women. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. Acardiac Parabiotic Fetus: A Rare Complication of Twin Pregnancy

    Directory of Open Access Journals (Sweden)

    Sood S

    2015-10-01

    Full Text Available Acardiac parabiotic fetus is sequelae of complication of monochorionic monoamniotic twin pregnancy also known as Twin Reversed Arterial Perfusion Sequence (TRAP. It is rare affecting 1 in 35,000 births and 1 % of monozygotic twins. Acardiac parabiotic twin commonly known as parasite occurs rarely and may lead to high output cardiac failure, hydrops or premature delivery in the pump fetus. In this report, we present a 23 years old primigravida with twin pregnancy, with twin reversed arterial perfusion sequence with one of the twins being acardiac anceps and the other normal pump fetus. This association is relatively uncommon and therefore rarely documented.

  12. [Genetic and environmental contributions to body mass index in a Spanish adolescent twin sample].

    Science.gov (United States)

    Iranzo-Tatay, Carmen; Gimeno-Clemente, Natalia; Livianos-Aldana, Lorenzo; Rojo-Moreno, Luis

    2015-08-21

    Twin and family studies support large genetic influences on variability in body mass index (BMI), with heritability estimates ranging from 47% to over 90%. Our objective was to study the relative contributions of genetics and environment to BMI, evaluating sex differences, in an adolescent twin sample from Valencia, Spain. Five hundred eighty-four pairs of adolescent twins between 13 and 18 years of age completed the study (82 monozygotic [MZ] and 87 dizygotic [DZ] pairs of male twins, 118 MZ and 102 DZ pairs of female twins, and 195 opposite-sex pairs of DZ twins). To determine zygosity, teachers responded a questionnaire on physical similarity. They also measured the participant's height and weight. BMI was calculated and weight status was determined according to age. We used twin models to assess genetic and environmental (common and unique) factors affecting BMI. There was a 7.1% frequency of overweight and 2.8% of obesity. The estimated heritability of BMI was 88.0% in boys and 72.1% in girls, with the remaining variance attributable to non-shared environment in boys (12.0%) and 8.8% in girls. It was only in girls that common environment had an effect on BMI. Genetics appears to play an important role in explaining the variability in BMI in the adolescence, with slight variations between boys and girls. Common environmental factors exert their influence on BMI only in girls. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  13. Impact of the Xba1-polymorphism of the human muscle glycogen synthase gene on parameters of the insulin resistance syndrome in a Danish twin population

    DEFF Research Database (Denmark)

    Fenger, M; Poulsen, P; Beck-Nielsen, H;

    2000-01-01

    was increased in female carriers of the A2-allele with impaired glucose tolerance or Type 2 diabetes mellitus (79 +/- 1 vs. 94 +/- 4 mmHg, P insulin resistance syndrome were associated with the polymorphism. CONCLUSIONS......AIMS: To establish the impact on the insulin resistance syndrome of the intron 14 Xba1-polymorphism in human muscle glycogen synthase (GYS1). METHODS: Parameters related to the insulin resistance syndrome were measured in 244 monozygotic twins and 322 dizygotic twins with or without impaired...... and the remainder had the genotype A1A2. No A2A2-genotypes were detected. In 11 genotypic discordant dizygotic twin pairs the insulin resistance was significantly increased in the twins carrying the A1A2 genotype regardless of sex (HOMA index 1.81 (A1A1) vs. 2.57 (A1A2), P

  14. Clinical investigation of monozygotic twins with glutaric acidemia type Ⅰ and gene mutation analysis%共患戊二酸血症Ⅰ型的单卵双胞胎临床表型与基因突变分析

    Institute of Scientific and Technical Information of China (English)

    唐根; 陈黎; 温鹏强; 陈占玲; 刘晓红; 陈淑丽; 崔冬; 赏月; 李成荣

    2015-01-01

    imaging (MRI) examination,urine organic acid and blood carnitine tandem mass analysis.The family members' genomic DNA was extracted from peripheral blood leukocytes.The 11 exons and their flanking sequences of GCDH gene were amplified with PCR and subjected to direct DNA sequencing.Results The proband's head circumference and visible exterior were normal.The Glasgow Coma Scale(GCS) score of the patient was 15.The four limbs activities and muscular tension were normal.The muscle strength was grade Ⅴ.The Babinski sign,Brinell syndrome and Klinefelter syndrome were negative.CT findings revealed widened bilateral frontotemporal subdural interval,mild hydrocephalus,equidensite arc shadow at the right frontal parietal.MRI findings demonstrated bilateral frontotemporal atrophy,broadened cerebral sulci,fissures,sylvian fissure and subarachnoid space in the front temporal lobe.The T1,T2 and diffusion weighted image showed abnormal signals in the bilateral globus pallidus and the central white matter of the frontal lobe.The density of cerebral hemisphere white matte was attenuated.In the temporal parietal subdural,equal T1,moderate T2 and high intensity fluid-attenuated inversion recovery signals were detected.The inherited metabolic diseases screening showed high urinary glutaric acid excretion.The blood glutarylcarnitine was 0.34 μmol/L (0-0.20 μmol/L as normal reference) which was detected by tandem mass spectrometry.GCDH gene sequencing analysis confirmed that the proband was compound heterozygous mutations with c.1205G > A and IVS10-2A > C.The pedigree analysis revealed that the proband's monozygotic twin little sister was also an glutaric acidemia type Ⅰ patient.The genotype of the little sister was completely consistent with proband.The clinical symptoms and disease severity were similar between the monozygotic twins.Conclusions The monozygotic twins who shared the same mutation and genetic background can have similar phenotypes and clinical symptoms.IVS10-2A > C

  15. Growth references for height, weight and body mass index of twins aged 0-2.5 years

    NARCIS (Netherlands)

    Dommelen, P. van; Gunst, M. de; Vaart, A.D. van; Buuren, S. van; Boomsma, D.

    2008-01-01

    Aim: To determine the size of the growth deficit in Dutch monozygotic and dizygotic twins aged 0-2.5 years as compared to singletons and to construct reference growth charts for twins. Methods: Growth of twins was studied using longitudinal data on over 4000 twins aged 0-2.5 years of the Netherlands

  16. Metabolismo de glicose em gêmeos monozigóticos discordantes para aptidão cardiorrespiratória Metabolismo de glucosa en gemelos monocigóticos discordantes para aptitud cardiorrespiratoria Glucose metabolism in discordant monozygotic twins for cardiorespiratory fitness

    Directory of Open Access Journals (Sweden)

    Marcos Roberto Queiroga

    2013-03-01

    L.kg-1.min-1 y fueron divididos en dos grupos, de alta y baja aptitud. Los grupos fueron comparados a partir de la prueba pareada de Wilcoxon, teniendo en vista la asimetría de los datos. RESULTADOS: En promedio, los gemelos del grupo de alta aptitud presentaron consumo máximo de oxígeno el 17% superior (13,5±3,7mL.kg-1.min-1 a sus hermanos menos aptos. No hubo diferencia entre los grupos para las concentraciones de insulina (36,5±34,6 versus 25,3±13,7mg/dL; pOBJECTIVE: To determine if glucose and insulin concentrations are regulated by cardiorespiratory fitness (VO2max regardless of their genetic effects. METHODS: This cross-sectional study enrolled 38 pairs of young monozygotic twins (11 to 18 years-old. All subjects underwent a progressive maximal exercise test on a treadmill to determine the VO2max with gas exchange analysis (MedGraphics VO2000® - Medical Graphics Corp., St. Paul, MN. Blood samples were drawn after fasting to determine glucose and insulin levels. Monozygosity was confirmed by genotyping 15 informative genetic markers. Nine pairs had at least 10mL.kg-1.min-1 difference in VO2max and were divided into the more and less active group, according to their VO2max. Mean differences between more and less active groups were evaluated by Wilcoxon's test for paired data. RESULTS: On average, twins from the more active group presented a 17% (13.5±3.7mL.kg-1.min-1 higher VO2max compared to their less active siblings. No significant differences were observed between the groups for fasting insulin (36.5±34.6 versus 25.3±13.7mg/dL; p<0.813. However, the more active twins had lower fasting glucose than the less active ones (82.9±7.3 versus 86.7±7.6mg/dL; p<0.010. CONCLUSIONS: In this case-control study (discordant monozygotic twins, the less active co-twins were characterized by higher fasting plasma glucose levels. This implies that poor cardiorespiratory fitness can be associated with defective glucose metabolism regardless of genetic factors.

  17. Problem in twin pregnancy: Findings of prenatal sonography and autopsy

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jeong Ah; Cho, Jeong Yeon; Song, Mi Jin; Min, Jee Yeon; Lee, Young Ho; Lee, Hak Jong; Chun, Yi Kyeong; Kim, Yee Jeong; Hong, Sung Ran [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2001-12-15

    Multifetal gestations are high risk pregnancies with higher perinatal morbidity and mortality. Multifetal gestations are subject to unique complications including conjoined twins, twin-to-twin transfusion syndrome (TTTS), acardiac twins, twin embization of co-twin demise and heterotopic pregnancies. Prenatal sonographic diagnosis of types and complications of multifetal gestations is important for antenatal care and prediction of fetal outcome. This study was performed to present the prenatal ultrasonographic findings and pathologic findings of the unique complications of twin pregnancy. Acardia is a lethal anomaly occurring in 1% of monozygotic twin. The acardiac twin has a parasitic existence and depends on the donor (pump) twin for its blood supply via placental anastomoses and retrograde perfusion of umbilical cord. This twin reversed arterial perfusion (TRAP) sequence is a most extreme manifestation on the TTTS. Doppler verification reversed flow in umbilical cord of the acardiac twin confirms the diagnosis.

  18. Head Circumferences in Twins with and without Autism Spectrum Disorders

    Science.gov (United States)

    Froehlich, Wendy; Cleveland, Sue; Torres, Andrea; Phillips, Jennifer; Cohen, Brianne; Torigoe, Tiffany; Miller, Janet; Fedele, Angie; Collins, Jack; Smith, Karen; Lotspeich, Linda; Croen, Lisa A.; Ozonoff, Sally; Lajonchere, Clara; Grether, Judith K.; Hallmayer, Joachim

    2013-01-01

    To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic and dizygotic pairs. 404 subjects, ages 4-18, were included. 20% of males and 27%…

  19. Genetic influences on dietary variety - Results from a twin study

    NARCIS (Netherlands)

    Scheibehenne, Benjamin; Todd, Peter M.; van den Berg, Stéphanie Martine; Hatemi, Peter K.; Eaves, Lindon J.; Vogler, Christian

    2014-01-01

    The heritability of variety seeking in the food domain was estimated from a large sample (N = 5,543) of middle age to elderly monozygotic and dizygotic twins from the “Virginia 30,000” twin study. Different dietary variety scores were calculated based on a semi-quantitative food choice questionnaire

  20. LBNP exercise protects aerobic capacity and sprint speed of female twins during 30 days of bed rest.

    Science.gov (United States)

    Lee, Stuart M C; Schneider, Suzanne M; Boda, Wanda L; Watenpaugh, Donald E; Macias, Brandon R; Meyer, R Scott; Hargens, Alan R

    2009-03-01

    We have shown previously that treadmill exercise within lower body negative pressure (LBNPex) maintains upright exercise capacity (peak oxygen consumption, Vo(2peak)) in men after 5, 15, and 30 days of bed rest (BR). We hypothesized that LBNPex protects treadmill Vo(2peak) and sprint speed in women during a 30-day BR. Seven sets of female monozygous twins volunteered to participate. Within each twin set, one was randomly assigned to a control group (Con) and performed no countermeasures, and the other was assigned to an exercise group (Ex) and performed a 40-min interval (40-80% pre-BR Vo(2peak)) LBNPex (51 +/- 5 mmHg) protocol, plus 5 min of static LBNP, 6 days per week. Before and immediately after BR, subjects completed a 30.5-m sprint test and an upright graded treadmill test to volitional fatigue. These results in women were compared with previously reported reductions in Vo(2peak) and sprint speed in male twins after BR. In women, sprint speed (-8 +/- 2%) and Vo(2peak) (-6 +/- 2%) were not different after BR in the Ex group. In contrast, both sprint speed (-24 +/- 5%) and Vo(2peak) (-16 +/- 3%) were significantly less after BR in the Con group. The effect of BR on sprint speed and Vo(2peak) after BR was not different between women and men. We conclude that treadmill exercise within LBNP protects against BR-induced reductions in Vo(2peak) and sprint speed in women and should prove effective during long-duration spaceflight.

  1. Heritability of retinal vascular fractals: a twin study

    DEFF Research Database (Denmark)

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

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

  2. Heredity of small hard drusen in twins aged 20-46 years

    DEFF Research Database (Denmark)

    Munch, Inger Christine; Sander, Birgit; Kessel, Line

    2007-01-01

    PURPOSE: To examine the prevalence and heredity of small hard drusen in 220 healthy twins aged 20-46 years. METHODS: Grayscale digital fundus photography, four-field 50 degrees nonstereoscopic, in red-free illumination was performed in 58 pairs of monozygotic (MZ) twins and 52 pairs of dizygotic...... (DZ) twins as part of a detailed biometric characterization. Small hard drusen (diameters,

  3. Advances in Behavioral Genetics Modeling Using Mplus: Applications of Factor Mixture Modeling to Twin Data

    National Research Council Canada - National Science Library

    Muthen, Bengt; Asparouhov, Tihomir; Rebollo, Irene

    2006-01-01

    This article discusses new latent variable techniques developed by the authors. As an illustration, a new factor mixture model is applied to the monozygotic-dizygotic twin analysis of binary items measuring alcohol-use disorder...

  4. Identical twins in forensic genetics

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Morling, Niels

    2015-01-01

    The increase in the number of forensic genetic loci used for identification purposes results in infinitesimal random match probabilities. These probabilities are computed under assumptions made for rather simple population genetic models. Often, the forensic expert reports likelihood ratios, where...... published results accounting for close familial relationships. However, we revisit the discussion to increase the awareness among forensic genetic practitioners and include new information on medical and societal factors to assess the risk of not considering a monozygotic twin as the true perpetrator...

  5. TRAP Sequence - An Interesting Entity in Twins

    Directory of Open Access Journals (Sweden)

    R H Srinivas Prasad

    2012-01-01

    Full Text Available Twin reversed arterial perfusion (TRAP sequence, is a rare malformation occurring in monozygotic multiple gestations. One well-developed normal (pump twin and the other twin with absent cardiac structure (acardiac, who is hemodynamically dependent on the normal (pump twin are characteristic of this syndrome. The acardiac twin develops multiple anomalies that make survival difficult. The prognosis of the pump twin is variable with mortality rate ranging from 50% to 70%. Complications that affect the prognosis of the pump twin include complications of congestive cardiac failure due to increased cardiac demand, prematurity secondary to preterm delivery, and polyhydramnios. Because of these complications prompt detection, follow-up, and treatment of this condition is very important. We report two cases of TRAP sequence that emphasizes the importance of gray-scale and color Doppler imaging in diagnosis, detection of poor prognostic features, follow-up, and management of TRAP sequence.

  6. A Twin Protection Effect? Explaining Twin Survival Advantages with a Two-Process Mortality Model.

    Science.gov (United States)

    Sharrow, David J; Anderson, James J

    2016-01-01

    Twin studies that focus on the correlation in age-at-death between twin pairs have yielded important insights into the heritability and role of genetic factors in determining lifespan, but less attention is paid to the biological and social role of zygosity itself in determining survival across the entire life course. Using data from the Danish Twin Registry and the Human Mortality Database, we show that monozygotic twins have greater cumulative survival proportions at nearly every age compared to dizygotic twins and the Danish general population. We examine this survival advantage by fitting these data with a two-process mortality model that partitions survivorship patterns into extrinsic and intrinsic mortality processes roughly corresponding to acute, environmental and chronic, biological origins. We find intrinsic processes confer a survival advantage at older ages for males, while at younger ages, all monozygotic twins show a health protection effect against extrinsic death akin to a marriage protection effect. While existing research suggests an increasingly important role for genetic factors at very advanced ages, we conclude that the social closeness of monozygotic twins is a plausible driver of the survival advantage at ages <65.

  7. Thrombosis of anastomoses may affect the staging sequence of twin-twin transfusion syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wijngaard, Jeroen P H M van den; Gemert, Martin J C van [Laser Center, Academic Medical Center-University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam (Netherlands); Ross, Michael G [Department of Obstetrics and Gynecology, Harbor-UCLA School of Medicine, Torrance, CA 90502 (United States)], E-mail: j.p.vandenwijngaard@amc.uva.nl

    2008-03-07

    Twin-twin transfusion syndrome (TTTS) is a severe complication of monozygotic (identical) twins, which share one single monochorionic placenta. It is caused by placental anastomoses which link the two fetoplacental circulations of the twins and allow a chronic net inter-twin transfusion to develop between the fetuses. Clinical presentation of TTTS manifestations has been classified into five different stages. In this paper, we used our computational model of TTTS and examined the possible differences between chronic and rapidly increasing inter-twin transfusion in the simulated TTTS staging sequence. Our results suggest that rapid alterations in the net inter-twin transfusion, e.g. due to thrombosis of placental anastomoses, may produce a different staging sequence than in TTTS caused by chronic inter-twin transfusion. These results may aid an improved knowledge of TTTS pathophysiology under conditions of a rapidly changing cardiovascular function, and contribute to the planning of optimal intervention under such circumstances. (note)

  8. Twins as a tool for evaluating the influence of genetic susceptibility in thyroid autoimmunity

    DEFF Research Database (Denmark)

    Brix, T H; Hegedüs, L

    2011-01-01

    irrefutable evidence of a genetic component in the aetiology of both Graves' disease and Hashimoto's thyroiditis, as well as for harbouring thyroid autoantibodies. Biometric modelling shows that approximately 75% of the total phenotypic variance in autoimmune thyroid disease is due to genetic effects. Despite...... the well known gender difference in the prevalence of autoimmune thyroid disease, the analyzes suggest that it is the same set of genes that operate in males and females. The lack of complete phenotypic concordance in monozygotic twin pairs indicates that also environmental and/or epigenetic factors...... are of importance. The impact of specific environmental and epigenetic exposures can be evaluated by investigating disease discordant twin pairs. Our studies show that skewed X chromosome inactivation is associated with clinically overt AITD but not with the presence of TPOAb in euthyroid individuals. It is now...

  9. Class - III malocclusion: Genetics or environment? A twins study

    OpenAIRE

    Jena A; Duggal R; Mathur V; Parkash H

    2005-01-01

    Etiology of class-III malocclusion is generally believed to be genetic. A wide range of environmental factors have been suggested as contributing factors for the development of class-III malocclusion. Twin study is one of the most effective methods available for investigating genetically determined variables of malocclusion. Discordancy for class-III malocclusion is a frequent finding in dizygotic twins. However, class-III malocclusion discordancy in monozygotic twins is a rare finding. The p...

  10. Familial aggregation of atrial fibrillation: a study in Danish twins

    DEFF Research Database (Denmark)

    Christophersen, Ingrid Elisabeth; Ravn, Lasse Steen; Budtz-Joergensen, Esben

    2009-01-01

    BACKGROUND: Heritability may play a role in nonfamilial atrial fibrillation (AF). We hypothesized that a monozygotic (MZ) twin whose co-twin was diagnosed with AF would have an increased risk of the disease compared with a dizygotic (DZ) twin in the same situation. METHODS AND RESULTS: A sample...... of 1137 same-sex twin pairs (356 MZ and 781 DZ pairs) in which one or both members were diagnosed with AF were identified in The Danish Twin Registry. Concordance rates were twice as high for MZ pairs than for DZ pairs regardless of sex (22.0% versus 11.6%, P...-free survival times, we compared the time span between occurrences of disease in MZ and DZ twins. The unaffected twin was included when his or her twin-sibling (the index twin) was diagnosed with AF. After adjustment for age at entry, MZ twins had a significantly shorter event-free survival time (hazard ratio...

  11. Risk factors for asthma in young adults: a co-twin control study

    DEFF Research Database (Denmark)

    Thomsen, SF; Ulrik, Charlotte Suppli; Kyvik, KO;

    2006-01-01

    . Pairs in which only one twin developed asthma -- discordant pairs -- were identified and conditional logistic regression was applied to detect effects of risk factors. RESULTS: A total of 126 monozygotic (MZ) and 273 dizygotic (DZ) discordant twin pairs were identified. In MZ twins hay fever (OR = 3.......16, 95% CI: 1.29-7.73, P = 0.007) and exercise (OR for inactivity = 0.35, 95% CI: 0.13-0.91, P = 0.023) were significantly associated with asthma, whereas in DZ twins, hay fever (OR = 2.44, 95% CI: 1.44-4.13, P = 0.001), eczema (OR = 1.96, 95% CI: 1.02-3.78, P = 0.040), female sex (OR between males...... and females = 0.54, 95% CI: 0.36-0.80, P = 0.002), and increasing levels of body mass index (BMI; OR per unit = 1.11, 95% CI: 1.02-1.20, P = 0.009) were significant predictors of asthma. CONCLUSIONS: Hay fever, eczema, female sex, exercise and increasing levels of BMI were risk factors for asthma in young...

  12. Acardiac Twinning (Twin Reversed Arterial Perfusion Sequence: A Review of Prenatal Management

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2005-06-01

    Full Text Available Acardiac twinning, or the twin reversed arterial perfusion (TRAP sequence, occurs in 1% of monozygotic twins, or 1 in 35,000 births. It is caused by the development of arterioarterial vascular anastomoses between the umbilical arteries of monozygotic twins early in embryogenesis. The pump twin may be associated with congenital anomalies and chromosomal abnormalities. Therefore, it is recommended that prenatal genetic testing be offered whenever pregnancy is complicated by acardiac twinning. The treatment options for acardiac twinning include observation, medical management, amniodrainage, and invasive treatment such as hysterotomy with selective delivery of the acardiac twin, intrafetal ablation of the acardiac twin by alcohol, laser, thermocoagulation or radiofrequency, fetoscope-guided funicular occlusion by ligation, laser or thermocoagulation, and ultrasound-guided funicular occlusion by ligation, cord compression, thermocoagulation or intrafunicular embolization with foreign bodies. If invasive treatment is indicated, the simplicity, safety, and efficacy of the chosen technique should be considered. An intrafetal approach has been shown to be superior to a funicular occlusion approach. Ultrasound-guided intrafetal laser ablation or radiofrequency ablation is believed to be the treatment of choice based on currently available data. This review emphasizes the necessity to carefully search for any possible associated anomaly in the pump twin by both genetic testing and sonographic examination, and to prudently consider invasive treatment only in pregnancies which would potentially benefit from the prenatal intervention.

  13. Risk markers for affective disorder, a seven-years follow up study of a twin cohort at low and high risk for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Miskowiak, Kamilla; Kessing, Lars Vedel

    2013-01-01

    This study aims to investigate whether: familial history of affective disorder, subclinical depressive symptoms and life events (LEs) are predictive of a later development of mood disorder (onset). In a high-risk study, 234 healthy monozygotic and dizygotic twins with and without a co-twin history...... of affective disorder (high and low risk twins, respectively) were identified through nationwide registers and assessed from 2002 to 2005. Participants were followed longitudinally at 6-months intervals for up to nine years and finally reassessed with a personal interview to obtain information on whether...... predicted onset (HR = 1.06, 95% CI 1.01-1.11). These findings suggest that young individuals at familial risk of affective disorders are at enhanced risk of onset and at further risk when having female sex and more subclinical depressive symptoms at baseline. Further, they seem to experience more LEs...

  14. Protection of bovine monozygotic twin by means of embryo microsurgery

    Directory of Open Access Journals (Sweden)

    Maurizio Monaci

    1990-06-01

    Full Text Available Após a microcirurgia dos embriões bovinos para a obtenção de gêmeos monozigóticos, passa-se ao exame dos resultados obtidos com o transplante dos mesmos nas receptoras, tendo sido este efetuado imediatamente após a duplicação, ou após o seu desenvolvimento "in vitro" por 36 horas, obtendo uma taxa de gravidez de 42% e de 72% respectivamente.

  15. Genetic and Epigenetic Differences in Monozygotic Twins with NF1

    Science.gov (United States)

    2011-10-01

    have included: plexiform neurofibromas (number and location), scoliosis, and malignancy ( MPNST ). Correlation between CNVs and clinical phenotype will...for MPNST . More study of this duplication is indicated to determine if it may predispose to more severe NFI complications occurring in patients with...D E Age (years) 18 10 9 6 5 Gender F F F F F CAL#s Cut. NF Lisch Plexiform# OPG T2 Hyperint Scoliosis Pectus MPNST MR LD Speech ADHD

  16. A twin study of the trough plasma steady-state concentration of metformin

    DEFF Research Database (Denmark)

    Stage, Tore B; Damkier, Per; Pedersen, Rasmus S;

    2015-01-01

    OBJECTIVE: The aim of this study was to determine the intrapair similarity in trough steady-state plasma concentrations of metformin in monozygotic and dizygotic twin pairs. METHODS: We included 16 twin pairs (eight monozygotic and eight dizygotic twin pairs) for this study after contacting 524...... twin pairs. They were dosed with metformin to steady state (1 g twice daily) for 6 days and on day 7, the trough concentration of metformin was determined 12 h after the last dose. RESULTS: There was no strong intrapair similarity in trough steady-state plasma concentrations of metformin in either...... dizygotic or monozygotic twin pairs. CONCLUSION: The trough steady-state plasma concentration of metformin does not appear to be tightly genetically regulated. The interpretation of this finding is limited by the small sample size....

  17. Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Cooper, Margaret E

    2017-01-01

    OBJECTIVE: Monozygotic twins of an individual with an orofacial cleft have a significantly elevated risk for orofacial cleft compared with the general population, but still the concordance rate for orofacial cleft in monozygotic twins is about 40% to 50%. The goal of this study was to determine...... whether unaffected cotwins have an increased frequency of orbicularis oris muscle defects, a subclinical form of orofacial cleft. The presence of such defects may reduce the overall rate of discordance. METHOD: A total of 63 discordant monozygotic and dizygotic twin pairs, 262 unaffected nontwin siblings......, and 543 controls with no history of orofacial clefts were assessed for orbicularis oris defects by high-resolution ultrasound. Frequencies were compared by the Fisher exact test. RESULTS: Unaffected cotwins from discordant monozygotic pairs had a higher frequency of defects (12.5%) than the other test...

  18. Salivary cortisol in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Bennike, Bente; Kyvik, Kirsten Ohm

    2008-01-01

    -sectional high-risk study. Healthy monozygotic (MZ) and dizygotic (DZ) twins with (High-Risk twins) and without (Low-Risk twins) a co-twin history of affective disorder were identified through nationwide registers. Awakening and evening salivary cortisol levels were compared between the 190 High- and Low......-Risk twins. The 109 High-Risk twins had significantly higher evening cortisol levels than the 81 Low-Risk MZ twins, also after adjustment for age, sex, and the level of subclinical depressive symptoms. No significant difference was found in awakening cortisol levels between High-Risk and Low-Risk twins....... In conclusion, a high genetic liability to affective disorder was associated with a higher evening cortisol level, but not with awakening cortisol level. Future prospective family, high-risk and twin studies are needed to decide whether abnormalities in the HPA axis can be identified as an endophenotype...

  19. A Twin Study of Perthes Disease

    DEFF Research Database (Denmark)

    Metcalfe, David; Van Dijck, Stephanie; Parsons, Nicolas

    2016-01-01

    and genetic associations with LCPD. METHODS: We extracted all twin pairs from the Danish Twin Registry (DTR) in which at least 1 individual had LCPD. The DTR captures every twin pair born alive in Denmark, and those with LCPD were identified by using health record linkage. Probanwise concordance.......00-0.18) for the dizygotic, and 0.18 (95% CI: 0.00-0.40) for the UZ twin pairs. CONCLUSIONS: This study found evidence of familial clustering in LCPD but did not show a genetic component. The absolute risk that a co-twin of an affected individual will develop LCPD is low, even in the case of monozygotic twin pairs.......BACKGROUND: Legg-Calvé-Perthes disease (LCPD) is an idiopathic avascular necrosis of the femoral head. Its etiology is poorly understood, although previous studies have implicated low birth weight and possible genetic determinants. The aim of this study was to identify potential birth weight...

  20. Fullerton Virtual Twin Study: an update.

    Science.gov (United States)

    Segal, Nancy L; McGuire, Shirley A; Graham, Jamie L; Stohs, Joanne Hoven

    2013-02-01

    Virtual twins (VTs) are same-age unrelated siblings reared together from early infancy. These unique sibling sets replicate twinship, but without the genetic link. The first VT pair was identified and studied at the University of Minnesota in 1990, launching the development of the Fullerton Virtual Twin Study at California State University, Fullerton (CSUF) in 1991. The registry currently includes 151 pairs, mostly children, with new pairs identified on a continuous basis. Research with VTs includes studies of general intelligence, body size, interpersonal trust, social coordination, social networks, and parenting. In some cases, VTs have been studied in conjunction with pairs of monozygotic twins, dizygotic twins, full siblings, and friends as part of TAPS (Twins, Adoptees, Peers and Siblings), a collaborative project conducted between CSUF and the University of San Francisco, 2002-2006. VTs will also serve as a comparison group for epigenetic analyses of young Chinese twins reared apart and together.

  1. Effects of the β-Adrenergic Agonist Cimaterol on Growth and Carcass Quality of Monozygotic Friesian Young Bulls at Three Developmental Stages

    DEFF Research Database (Denmark)

    Vestergaard, Mogens; Sommer, Mario; Klastrup, Signe;

    1993-01-01

    The objective was to investigate the effects of the β-adrenergic agonist cimaterol (CIM) on growth and carcass quality of Friesian young bulls at different developmental stages. The study comprised three liveweight groups (WG) each of four pairs of monozygotic twins. The average initial liveweight...... in cuts from the hind region of the carcass. The percentage of carcass saleable meat increased (Pleanness...

  2. Utilizing twins as controls for non-twin case-materials in genome wide association studies.

    Directory of Open Access Journals (Sweden)

    Andrea Ganna

    Full Text Available Twin registries around the globe have collected DNA samples from large numbers of monozygotic and dizygotic twins. The twin sample collections are frequently used as controls in disease-specific studies together with non-twins. This approach is unbiased under the hypothesis that twins and singletons are comparable in terms of allele frequencies; i.e. there are no genetic variants associated with being a twin per se. To test this hypothesis we performed a genome-wide association study comparing the allele frequency of 572,352 single nucleotide polymorphisms (SNPs in 1,413 monozygotic (MZ and 5,451 dizygotic (DZ twins with 3,720 healthy singletons. Twins and singletons have been genotyped using the same platform. SNPs showing association with being a twin at P-value < 1 × 10(-5 were selected for replication analysis in 1,492 twins (463 MZ and 1,029 DZ and 1,880 singletons from Finland. No SNPs reached genome-wide significance (P-value < 5 × 10(-8 in the main analysis combining MZ and DZ twins. In a secondary analysis including only DZ twins two SNPs (rs2033541 close to ADAMTSL1 and rs4149283 close to ABCA1 were genome-wide significant after meta-analysis with the Finnish population. The estimated proportion of variance on the liability scale explained by all SNPs was 0.08 (P-value=0.003 when MZ and DZ were considered together and smaller for MZ (0.06, P-value=0.10 compared to DZ (0.09, P-value=0.003 when analyzed separately. In conclusion, twins and singletons can be used in genetic studies together with general population samples without introducing large bias. Further research is needed to explore genetic variances associated with DZ twinning.

  3. Major depressive disorder, suicidal thoughts and behaviours, and cannabis involvement in discordant twins: a retrospective cohort study.

    Science.gov (United States)

    Agrawal, Arpana; Nelson, Elliot C; Bucholz, Kathleen K; Tillman, Rebecca; Grucza, Richard A; Statham, Dixie J; Madden, Pamela Af; Martin, Nicholas G; Heath, Andrew C; Lynskey, Michael T

    2017-09-01

    Early and frequent cannabis use are associated with an increased likelihood of major depressive disorder (MDD) as well as suicidal thoughts and behaviours. We identify associations between aspects of cannabis use, MDD, and suicidal thoughts and behaviours and examine whether such associations persist after accounting for those predisposing factors, including genetic liability and early family environment, that are shared by identical twins who are discordant for cannabis exposure. Any residual association in such identical pairs might be indicative of individual-specific pathways that might be of a causal nature. We did a logistic regression analysis of cannabis use from retrospective data on same-sex male and female twin pairs drawn from 3 studies that had recruited twins from the Australian Twin Registry, 1992-93 (sample 1), 1996-2000 (sample 2), and 2005-09 (sample 3). We studied associations between early use and frequent use of cannabis and MDD, suicidal ideation (ever and persistent), and suicide plan and attempt in the full sample as well as in pairs of monozygotic and dizygotic twins that were discordant for each measure of cannabis involvement at a single timepoint. Significant monozygotic associations were further adjusted for covariates, such as early alcohol or nicotine use, early dysphoric or anhedonic mood, conduct disorder, and childhood sexual abuse. Interactions between each cannabis measure and sex, sample or study effects, and birth year category were also examined as covariates. In 13 986 twins (6181 monozygotic and 7805 dizygotic), cannabis use ranged from 1345 (30·4%) of 4432 people in sample 1 to 2275 (69·0%) of 3299 in sample 3. Mean age of first cannabis use ranged from 17·9 years (SD 3·3) in sample 3 to 21·1 years (5·2) in sample 1, and frequent use (≥100 times) was reported by 214 (15·9%) of 1345 users in sample 1 and 499 (21·9%) of 2275 in sample 3. The prevalence of suicidal ideation ranged from 1102 (24·9%) of 4432 people

  4. Brief Report: On the Concordance Percentages for Autistic Spectrum Disorder of Twins

    Science.gov (United States)

    Bohm, Henry V.; Stewart, Melbourne G.

    2009-01-01

    In the development of genetic theories of Autistic Spectrum Disorder (ASD) various characteristics of monozygotic (MZ) and dizygotic (DZ) twins are often considered. This paper sets forth a possible refinement in the interpretation of the MZ twin concordance percentages for ASD underlying such genetic theories, and, drawing the consequences from…

  5. The Association Between Hippocampal Volume and Life Events in Healthy Twins

    NARCIS (Netherlands)

    Bootsman, Florian; Kemner, Sanne M.; Hillegers, Manon H. J.; Brouwer, Rachel M.; Vonk, Ronald; van der Schot, Astrid C.; Pol, Hilleke E. Hulshoff; Nolen, Willem A.; Kahn, Rene S.; van Haren, Neeltje E. M.

    2016-01-01

    Hippocampal volume deficits have been linked to life stress. However, the degree to which genes and environment influence the association between hippocampal volume and life events is largely unknown. In total, 123 healthy twins from monozygotic and dizygotic twin pairs underwent magnetic resonance

  6. Brief Report: On the Concordance Percentages for Autistic Spectrum Disorder of Twins

    Science.gov (United States)

    Bohm, Henry V.; Stewart, Melbourne G.

    2009-01-01

    In the development of genetic theories of Autistic Spectrum Disorder (ASD) various characteristics of monozygotic (MZ) and dizygotic (DZ) twins are often considered. This paper sets forth a possible refinement in the interpretation of the MZ twin concordance percentages for ASD underlying such genetic theories, and, drawing the consequences from…

  7. The Discordant MZ-Twin Method: One Step Closer to the Holy Grail of Causality

    Science.gov (United States)

    Vitaro, Frank; Brendgen, Mara; Arseneault, Louise

    2009-01-01

    Twin studies are well known for their value in quantifying the contribution of genes to population variation in behaviors and personality traits. Twin studies also provide a unique opportunity to untangle the contribution of environmental experiences to emotional and behavioral development. This is particularly true when examining monozygotic (MZ)…

  8. Movement Disorders in a Twins Pair: A Casual Expression or Genetic Determination?

    Science.gov (United States)

    Gennaro, Leonarda; Russo, Luigi; Losito, Luciana; Zaccaria, Alessia; De Rinaldis, Marta; Trabacca, Antonio

    2010-01-01

    A twin study is an excellent means of assessing the contribution of heritability to motor behaviour. We present a movement video-analysis of a monozygotic twins pair with a motor repertoire which is almost totally constituted by persistent and subcontinuous motor stereotypies. Purpose: The specific aim of this study is to verify the heritable…

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

    DEFF Research Database (Denmark)

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

    2011-01-01

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

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

    DEFF Research Database (Denmark)

    Fagnani, Corrado; Fibiger, Steen; Skytthe, Axel

    2011-01-01

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

  11. Twin Reversed Arterial Perfusion (TRAP Sequence; Characteristic Gray-Scale and Doppler Ultrasonography Findings

    Directory of Open Access Journals (Sweden)

    Buyukkaya

    2015-07-01

    Full Text Available Twin reversed arterial perfusion (TRAP sequence is a syndrome with poor prognosis, seen only in monochorionic monozygotic twin pregnancies. The incidence is one in 35.000 births and one in 100 monozygotic twin pregnancies. It is characterized with a recipient fetus exhibiting lethal anomalies including acardia and a pump fetus. Mortality is usually due to heart failure or premature labor caused by polyhydramnios of pump fetus. Herein, we report a case of TRAP sequence that emphasizes the importance of gray-scale and color Doppler imaging in the diagnosis and management of TRAP sequence.

  12. Twin Reversed Arterial Perfusion (TRAP) Sequence; Characteristic Gray-Scale and Doppler Ultrasonography Findings.

    Science.gov (United States)

    Buyukkaya, Ayla; Tekbas, Guven; Buyukkaya, Ramazan

    2015-07-01

    Twin reversed arterial perfusion (TRAP) sequence is a syndrome with poor prognosis, seen only in monochorionic monozygotic twin pregnancies. The incidence is one in 35.000 births and one in 100 monozygotic twin pregnancies. It is characterized with a recipient fetus exhibiting lethal anomalies including acardia and a pump fetus. Mortality is usually due to heart failure or premature labor caused by polyhydramnios of pump fetus. Herein, we report a case of TRAP sequence that emphasizes the importance of gray-scale and color Doppler imaging in the diagnosis and management of TRAP sequence.

  13. Genetic and environmental factors in associations between infant growth and adult cardiometabolic risk profile in twins.

    Science.gov (United States)

    Touwslager, Robbert N H; Gielen, Marij; Mulder, Antonius L M; Gerver, Willem J M; Zimmermann, Luc J; Dagnelie, Pieter C; Houben, Alfons J H M; Stehouwer, Coen D A; Derom, Catherine; Vlietinck, Robert; Loos, Ruth J F; Zeegers, Maurice P

    2013-10-01

    Accelerated infant growth is associated with an altered, mostly adverse adult cardiometabolic risk profile. The importance of genetic and environmental factors to these associations is unclear. The objective was to examine the importance of genetic and environmental factors in the associations between infant growth and adult cardiometabolic risk factors (anthropometric characteristics, lipids, insulin sensitivity, leptin, blood pressure, and fibrinogen) in twins. Cardiometabolic risk factors were assessed in 240 twin pairs (aged 18-34 y) from the East Flanders Prospective Twin Survey. Infant growth was defined as change in weight z score. We regressed intrapair differences in growth during 4 growth windows (0-1, 1-6, 6-12, and 12-24 mo) against intrapair differences in the risk factors in monozygotic and dizygotic twins separately. Within monozygotic twin pairs only, associations between infant growth and most adult lipids, glucose, leptin, and blood pressure (eg, systolic blood pressure: b = 5.95 mm Hg per change in z score, P = 0.01 in monozygotic twins; b = -1.64, P = 0.82 in dizygotic twins from 12 to 24 mo) were found. Within dizygotic twin pairs only, associations between growth and triglycerides and fibrinogen (eg, fibrinogen: b = 0.07 ln mg/dL per change in z score, P = 0.31 in monozygotic twins; b = 0.79, P = 0.01 in dizygotic twins from 0 to 1 mo) were identified. Most associations showed a detrimental effect of accelerated growth, but beneficial associations were also identified (eg, total-to-high-density-lipoprotein cholesterol ratio: b = -0.22 per change in z score from 1 to 6 mo, P = 0.008 in monozygotic twins). Our data showed that environmental factors play a role in the associations between infant growth and most adult lipids, glucose, leptin, and blood pressure, whereas genetic factors are involved regarding triglycerides and fibrinogen.

  14. Using Twins to Better Understand Sibling Relationships.

    Science.gov (United States)

    Mark, Katharine M; Pike, Alison; Latham, Rachel M; Oliver, Bonamy R

    2017-03-01

    We compared the nature of the sibling relationship in dyads of varying genetic relatedness, employing a behavioural genetic design to estimate the contribution that genes and the environment have on this familial bond. Two samples were used-the Sisters and Brothers Study consisted of 173 families with two target non-twin children (mean ages = 7.42 and 5.22 years respectively); and the Twins, Family and Behaviour study included 234 families with two target twin children (mean age = 4.70 years). Mothers and fathers reported on their children's relationship with each other, via a postal questionnaire (the Sisters and Brothers Study) or a telephone interview (the Twins, Family and Behaviour study). Contrary to expectations, no mean level differences emerged when monozygotic twin pairs, dizygotic twin pairs, and non-twin pairs were compared on their sibling relationship quality. Behavioural genetic analyses also revealed that the sibling bond was modestly to moderately influenced by the genetic propensities of the children within the dyad, and moderately to substantially influenced by the shared environment common to both siblings. In addition, for sibling negativity, we found evidence of twin-specific environmental influence-dizygotic twins showed more reciprocity than did non-twins. Our findings have repercussions for the broader application of results from future twin-based investigations.

  15. The Concordance and Heritability of Type 2 Diabetes in 34,166 Twin Pairs From International Twin Registers

    DEFF Research Database (Denmark)

    Willemsen, G.; Ward, K. J.; Bell, C. G.

    2015-01-01

    Twin pairs discordant for disease may help elucidate the epigenetic mechanisms and causal environmental factors in disease development and progression. To obtain the numbers of pairs, especially monozygotic (MZ) twin pairs, necessary for in-depth studies while also allowing for replication, twin...... studies worldwide need to pool their resources. The Discordant Twin (DISCOTWIN) consortium was established for this goal. Here, we describe the DISCOTWIN Consortium and present an analysis of type 2 diabetes (T2D) data in nearly 35,000 twin pairs. Seven twin cohorts from Europe (Denmark, Finland, Norway......, the Netherlands, Spain, Sweden, and the United Kingdom) and one from Australia investigated the rate of discordance for T2D in same-sex twin pairs aged 45 years and older. Data were available for 34,166 same-sex twin pairs, of which 13,970 were MZ, with T2D diagnosis based on self-reported diagnosis...

  16. Association between subjective memory complaints and depressive symptoms after adjustment for genetic and family environmental factors in a Japanese twin study.

    Science.gov (United States)

    Tanaka, Haruka; Ogata, Soshiro; Omura, Kayoko; Honda, Chika; Kamide, Kei; Hayakawa, Kazuo

    2016-03-01

    The aim of this study was to investigate the association between subjective memory complaints (SMCs) and depressive symptoms, with and without adjustment for genetic and family environmental factors. We conducted a cross-sectional study using twins and measured SMCs and depressive symptoms as outcomes and explanatory variables, respectively. First, we performed regression analyses using generalized estimating equations to investigate the associations between SMCs and depressive symptoms without adjustment for genetic and family environmental factors (individual-level analyses). We then performed regression analyses for within-pair differences using monozygotic (MZ) and dizygotic (DZ) twin pairs and MZ twin pairs to investigate these associations with adjustment for genetic and family environmental factors by subtracting the values of one twin from those of co-twin variables (within-pair level analyses). Therefore, differences between the associations at individual- and within-pair level analyses suggested confounding by genetic factors. We included 556 twins aged ≥ 20 years. In the individual-level analyses, SMCs were significantly associated with depressive symptoms in both males and females [standardized coefficients: males, 0.23 (95% CI 0.08-0.38); females, 0.35 (95% CI 0.23-0.46)]. In the within-pair level analyses using MZ and same-sex DZ twin pairs, SMCs were significantly associated with depressive symptoms. In the within-pair level analyses using the MZ twin pairs, SMCs were significantly associated with depressive symptoms [standardized coefficients: males, 0.32 (95% CI 0.08-0.56); females, 0.24 (95% CI 0.13-0.42)]. This study suggested that SMCs were significantly associated with depressive symptoms after adjustment for genetic and family environmental factors.

  17. Twin-twin transfusion syndrome - diagnosis and prognosis

    Directory of Open Access Journals (Sweden)

    Hajrić-Egić Amira

    2003-01-01

    Full Text Available Twin-twin transfusion syndrome is a serious complication of monozygotic, monochorionic, diamniotic twins resulting from transplacental vascular communications. In this syndrome blood is thought to be shunted from one twin - donor,who develops anaemia,growth retardation and oligoamnios, to the other twin - recipient,who becomes plethoric,macrosomic and develops polyhydroamnios. The incidence of twin-twin transfusion syndrome ranges from 5-15% of all twin pregnancies. If this condition develops in the second trimester, it is usually associated with spontaneous abortion and death of one or both fetuses before viability. Developing the syndrome in the third trimester has better perinatal outcome. Mortality rates ranging from 56%-100%, depending on gestational age and severity of the syndrome. The ultrasound criterias for diagnosis, in this study,were the presence of twins of the same sex with discordant growth, with oligohydroamnios in one twin sac and polyhydroamnios in the other one, one placenta and thin membrane between twins. The present study shows clinical course of 14 cases and value of Doppler ultrasound to analyze the usefulness of umbilical artery blood flow velocimetry for predicting the risk of twin-twin transfusion syndrome. 14 twin pregnancies with twin-twin transfusion syndrome were diagnosed during the last four years period and prospectivelly followed. 9 cases were diagnosed before the completion od 28 weeks of gestation.The mean gestational age was 21,6_+4,2 weeks at diagnosis and 23,2+_3,6 weeks at delivery. 5 cases were diagnosed after 28 weeks of gestation. The mean gestational age in this group was 29,6+_2,1 weeks at diagnosis and 33+_3,3 weeks at delivery. The survival rate in this study was 29%(8/28.9 cases ended in spontaneous abortion between 18th and 27th weeks of pregnancy (table 1 and 5 in premature labor (table 2.There were 7 intrauterine death (5 at admission and 2 few days after admission and 13 neonatal deaths

  18. Heritability of psoriasis in a large twin sample

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  19. 3D Evaluation of Palatal Rugae in Identical Twins

    Directory of Open Access Journals (Sweden)

    Emiliya Taneva

    2017-01-01

    Full Text Available The study of identical twins can point out potential limitations in biometrics and forensic odontology. This case report presents three-dimensional (3D palatal rugae analysis in monozygotic twins utilizing digital models obtained directly by scanning the maxillary dental arch with the iTero® intraoral digital scanner. The results show that the rugae patterns contain related but not identical features between the pair of identical twins. Dental study models taken on a regular basis for diagnosis and treatment planning in dentistry include the palatal rugae, which could be valuable to forensics in identical twin identification cases.

  20. 3D Evaluation of Palatal Rugae in Identical Twins.

    Science.gov (United States)

    Taneva, Emiliya; Evans, Carla; Viana, Grace

    2017-01-01

    The study of identical twins can point out potential limitations in biometrics and forensic odontology. This case report presents three-dimensional (3D) palatal rugae analysis in monozygotic twins utilizing digital models obtained directly by scanning the maxillary dental arch with the iTero® intraoral digital scanner. The results show that the rugae patterns contain related but not identical features between the pair of identical twins. Dental study models taken on a regular basis for diagnosis and treatment planning in dentistry include the palatal rugae, which could be valuable to forensics in identical twin identification cases.

  1. Observed Rate of Down Syndrome in Twin Pregnancies.

    Science.gov (United States)

    Sparks, Teresa N; Norton, Mary E; Flessel, Monica; Goldman, Sara; Currier, Robert J

    2016-11-01

    To evaluate the observed incidence of Down syndrome in twins compared with that expected based on maternal age-matched singletons, which is the current clinical approach. This was a retrospective review of California Prenatal Screening Program participants with expected delivery dates between July 1995 and December 2012. Cases confirmed prenatally or postnatally with a genetic imbalance leading to phenotypic Down syndrome (trisomy 21, mosaic trisomy 21, or translocations) were included. Pregnancies conceived with ovum donation and women older than 45 years were excluded. We compared the observed Down syndrome incidence per pregnancy for twins with expected incidence by extrapolating from singleton data and expected zygosity as is the current clinical approach. This extrapolation assumes that monozygotic pregnancies have equivalent Down syndrome risk per pregnancy relative to maternal age-matched singletons and dizygotic pregnancies have twice the risk of at least one affected fetus. Zygosity for affected cases was presumed to be monozygotic with Down syndrome concordance and dizygotic with Down syndrome discordance. Counts were compared using cumulative Poisson distributions. Of 77,279 twin pregnancies, 182 (0.2%) had at least one fetus with Down syndrome confirmed by karyotype. The ratio of observed-to-expected Down syndrome incidence per pregnancy was 33.6%, 75.2%, and 70.0% for monozygotic, dizygotic, and all twins, respectively (PDown syndrome incidence was seen for women aged 25 to 45 years with monozygotic pregnancies and overall for women aged 25 to 45 years with dizygotic pregnancies. The observed incidence of Down syndrome in twin pregnancies is lower than expected, most notably for monozygotic pregnancies and with increasing maternal age. Risk-based counseling can strongly affect women's choices regarding testing and management during pregnancy, so an understanding of the true Down syndrome risk in twin gestations is crucial.

  2. The influence of heritability, neuroticism, maternal warmth and media use on disordered eating behaviors: a prospective analysis of twins.

    Science.gov (United States)

    Ferguson, Christopher J; Muñoz, Monica E; Winegard, Ben; Winegard, Bo

    2012-09-01

    The relative impact of genetic and social influences on disordered eating behaviors (DEB) including binging, purging, excessive dieting and negative self-evaluations about weight remain an issue of debate. The current study sought to examine the relative influence of genetic and social influences on DEB. A 7-year prospective analysis of 580 monozygotic (MZ) and dizygotic (DZ) twins was conducted. Estimates of heritability of DEB were obtained using the DF Analysis Model. Regression equations revealed the relative predictive value of sibling's DEB, neurotic personality, maternal warmth and television and video game exposure on DEB. Heritability estimates for DEB were 0.40 for females and 0.48 for males. Among MZ and DZ twin pairs, female sex, neurotic personality and a genetic variable component, but not maternal warmth or school related problems, predicted DEB. Contrary to the expectations of media effects theory, greater media use was associated with lower DEB among DZ twins and had no influence on MZ twins. These results indicate that DEB is highly heritable and that personality variables may play an important role in the formation of DEB. This suggests that it is important to control for genetic variables when analyzing risk factors for DEB.

  3. Peer Network Overlap in Twin, Sibling, and Friend Dyads

    Science.gov (United States)

    McGuire, Shirley; Segal, Nancy L.

    2013-01-01

    Research suggests that sibling–peer connections are important for understanding adolescent problem behaviors. Using a novel behavioral genetic design, the current study investigated peer network overlap in 300 child–child pairs (aged 7-13 years) in 5 dyad types: monozygotic (MZ), dizygotic twins, full siblings (FSs), friend pairs, and virtual…

  4. Cognitive function in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Christensen, Maj Vinberg; Kyvik, Kirsten Ohm; Kessing, Lars Vedel

    2006-01-01

    is associated with cognitive impairment. METHOD: In a cross-sectional high-risk case-control study, healthy monozygotic (MZ) and dizygotic (DZ) twins with (High-Risk twins) and without (the control group/Low-Risk twins) a co-twin history of affective disorder were identified through nationwide registers....... Cognitive performance of 203 High-Risk and Low-Risk twins was compared. RESULTS: Healthy twins discordant for unipolar disorder showed lower performance on almost all measures of cognitive function: selective and sustained attention, executive function, language processing and working and declarative memory......, and also after adjustment for demographic variables, subclinical symptoms and minor psychopathology. Healthy twins discordant for bipolar disorder showed lower performance on tests measuring episodic and working memory, also after adjustment for the above-mentioned covariables. The discrete cognitive...

  5. Circadian system heritability as assessed by wrist temperature: a twin study.

    Science.gov (United States)

    Lopez-Minguez, Jesus; Ordoñana, Juan R; Sánchez-Romera, Juan F; Madrid, Juan A; Garaulet, Marta

    2015-02-01

    Previous research shows that wrist temperature (WT) is a good marker to assess the circadian system health in different circumstances. However, no studies have been performed in order to know the genetic component of this circadian marker. For this purpose, the aim was to determine, using classical twin models, the relative genetic and environmental influences on WT. The study was performed in 53 pairs of female twins (28 monozygotic (MZ) and 25 dizygotic (DZ)), with a body mass index 25.9 ± 3.78 and mean age 52 ± 6 years. The sample was selected from the Murcia Twin Register. Circadian patterns were studied by analyzing WT during one week every 10 min "Circadianware®". Genetic influences to WT variability were estimated by comparing correlations of MZ and DZ twin pairs and fitting genetic structural equation models to measured variables. MZ twins showed higher intra-pair correlations than DZ twins for most of the parameters. Genetic factors were responsible for between 46% and 70% of variance (broad sense heritability) in parameters such as mean temperature, mesor, acrophase, Rayleigh test, percentage of rhythmicity and five hours of maximum temperature. The pattern of correlations and the genetic models point to moderate to high heritability for most of the WT parameters, suggesting a relevant genetic influence. The presence of these genetic factors points to endogenicity as the main cause of the coincidence of the WT rhythms. However, some WT parameters are still dependent on environment to a relevant extent and, hence, more amenable to change through external interventions.

  6. Attachment to the Romantic Partner and Sibling: Attachment Hierarchies of Twins and Non-Twin Siblings

    Directory of Open Access Journals (Sweden)

    Sascha Schwarz

    2015-12-01

    Full Text Available Previous studies have shown that romantic partners and siblings are important attachment figures. This study compares the attachment to the romantic partner with the attachment to the sibling as a function of the participant’s sibling type among monozygotic (MZ twins, dizygotic (DZ twins, and non-twin (NT siblings. The results show that MZ twins prefer their sibling to their romantic partner whereas DZ twins are equally attached to their sibling and romantic partner. In contrast, NT siblings are more attached to their romantic partner compared to their sibling. These results indicate that genetic relatedness has profound impact on a person’s attachment hierarchy and the relative rank of the romantic partner and the sibling.

  7. Conjoined Twins

    Science.gov (United States)

    ... sites of conjoined twins. Abdomen. Omphalopagus (om-fuh-LOP-uh-gus) twins are joined near the bellybutton. ... brain tissue. Head and chest. Cephalopagus (sef-uh-LOP-uh-gus) twins are joined at the face ...

  8. Inspection Time and Cognitive Abilities in Twins Aged 7 to 17 Years: Age-Related Changes, Heritability and Genetic Covariance

    Science.gov (United States)

    Edmonds, Caroline J.; Isaacs, Elizabeth B.; Visscher, Peter M.; Rogers, Mary; Lanigan, Julie; Singhal, Atul; Lucas, Alan; Gringras, Paul; Denton, Jane; Deary, Ian J.

    2008-01-01

    We studied the age-related differences in inspection time and multiple cognitive domains in a group of monozygotic (MZ) and dizygotic (DZ) twins aged 7 to 17 years. Data from 111 twin pairs and 19 singleton siblings were included. We found clear age-related trends towards more efficient visual information processing in older participants. There…

  9. Conjoined Twins : A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and Research

    NARCIS (Netherlands)

    Mutchinick, Osvaldo M.; Luna-Munoz, Leonora; Amar, Emmanuelle; Bakker, Marian K.; Clementi, Maurizio; Cocchi, Guido; Dutra, Maria da Graca; Feldkamp, Marcia L.; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, Brian; Marengo, Lisa K.; Martinez-Frias, Maria-Luisa; Mastroiacovo, Pierpaolo; Metneki, Julia; Morgan, Margery; Pierini, Anna; Rissman, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Arteaga-Vazquez, Jazmin

    2011-01-01

    Conjoined twins (CT) are a very rare developmental accident of uncertain etiology. Prevalence has been previously estimated to be 1 in 50,000 to 1 in 100,000 births. The process by which monozygotic twins do not fully separate but form CT is not well understood. The purpose of the present study was

  10. Genetic and environmental influences on emotion-modulated startle reflex: a twin study.

    Science.gov (United States)

    Anokhin, Andrey P; Golosheykin, Simon; Heath, Andrew C

    2007-01-01

    Emotion-modulated startle reflex is an important indicator of traitlike differences in affective processing implicated in the biological basis of personality and psychopathology. This study examined heritability of startle modulation by affective pictures in 66 pairs of monozygotic and 57 pairs of dizygotic female twins. Consistent with previous studies, startle magnitude was significantly influenced by emotional valence of the picture (positive < neutral < negative). Absolute response magnitude showed high heritability in all three valence conditions (59-61%); however, there were no significant genetic influences on the amount of startle modulation. Thus, our data do not support the hypothesis that emotion-modulated startle can serve as an indicator of genetically transmitted individual differences in affective processing.

  11. Is There a Female Protective Effect Against Attention-Deficit/Hyperactivity Disorder? Evidence From Two Representative Twin Samples

    NARCIS (Netherlands)

    Taylor, M.J.; Lichtenstein, P.; Larsson, H.; Anckarsater, H.; Greven, C.U.; Ronald, A.

    2016-01-01

    OBJECTIVE: Attention-deficit/hyperactivity disorder (ADHD) is more frequent in males than in females. The "female protective effect" posits that females undergo greater exposure to etiological factors than males in order to develop ADHD, leading to the prediction that relatives of females with ADHD

  12. A possible association between the genetic predisposition for dizygotic twinning and schizophrenia

    DEFF Research Database (Denmark)

    Kläning, Ulla; Pedersen, Carsten Bøcker; Mortensen, Preben Bo;

    2002-01-01

    BACKGROUND: A previous study demonstrated a 40% higher rate of schizophrenia in dizygotic twins than in the general population. The aim of the present study is to evaluate whether genes influencing the rate of dizygotic twinning and genes of importance for developing schizophrenia can be associated...... of a linkage between genes influencing the rate of dizygotic twinning and genes influencing the threshold for developing schizophrenia........ METHOD: Through record linkage between The Danish Twin Register, The Danish Psychiatric Central Register, and The Danish Civil Registration System, the rate of schizophrenia in singleton siblings of dizygotic and monozygotic twins was compared with the rate in siblings of singletons. RESULTS: The rate...

  13. The effect of losing the twin and losing the partner on mortality

    DEFF Research Database (Denmark)

    Tomassini, Cecilia; Rosina, Alessandro; Billari, Francesco C

    2002-01-01

    Several studies have explored the impact of marital bereavement on mortality, while increasing emphasis has recently been placed on genetic factors influencing longevity - in this paper, we study the impact of losing the spouse and losing the co-twin, for twins aged 50 to 70. We use data from...... is similar for men and women, and it is higher for monozygotic twins. The latter confirms the influence of genetic factors on survival, while the mortality trajectory with a peak in the second year after the death of the co-twin is consistent with the existence of a twin bereavement effect....

  14. NOTE: Thrombosis of anastomoses may affect the staging sequence of twin twin transfusion syndrome

    Science.gov (United States)

    van den Wijngaard, Jeroen P. H. M.; Ross, Michael G.; van Gemert, Martin J. C.

    2008-03-01

    Twin-twin transfusion syndrome (TTTS) is a severe complication of monozygotic (identical) twins, which share one single monochorionic placenta. It is caused by placental anastomoses which link the two fetoplacental circulations of the twins and allow a chronic net inter-twin transfusion to develop between the fetuses. Clinical presentation of TTTS manifestations has been classified into five different stages. In this paper, we used our computational model of TTTS and examined the possible differences between chronic and rapidly increasing inter-twin transfusion in the simulated TTTS staging sequence. Our results suggest that rapid alterations in the net inter-twin transfusion, e.g. due to thrombosis of placental anastomoses, may produce a different staging sequence than in TTTS caused by chronic inter-twin transfusion. These results may aid an improved knowledge of TTTS pathophysiology under conditions of a rapidly changing cardiovascular function, and contribute to the planning of optimal intervention under such circumstances. Supported in part by the European Community Euro-twin-2-twin project (JPHMvdW) and by the National Institutes of Health, grant HL40899 (MGR).

  15. Concordance Rates of Adolescent Idiopathic Scoliosis in a Danish Twin Population

    DEFF Research Database (Denmark)

    Simony, Ane; Carreon, Leah Y; Højmark, Karen;

    2016-01-01

    STUDY DESIGN: Clinical, radiological and genetic determination of zygosity of twin pairs from the Danish Twin Registry who self-reported having Adolescent Idiopathic Scoliosis (AIS). OBJECTIVE: To establish concordance rates of AIS. SUMMARY OF BACKGROUND DATA: The aetiology of and the true mode...... of inheritance of AIS remains unclear. Studies on concordance in twin pairs provide a basis for analysing the influence of genetic versus environmental factors. In 2007, using self-report of AIS from the Danish Twin Registry, concordance rates of 0.13 in monozygotic twins and 0.00 in dizygotic twins were...... reported. METHODS: All 46,418 twins registered in the Danish Twin Registry born from 1931 to 1982 were sent a survey, which included questions about scoliosis. The survey was returned by 34,944 individuals (75.3%) representing 23,204 pairs. From this study, 548 individuals representing 274 complete twin...

  16. Evidence for a genetic overlap between body dysmorphic concerns and obsessive-compulsive symptoms in an adult female community twin sample.

    Science.gov (United States)

    Monzani, Benedetta; Rijsdijk, Fruhling; Iervolino, Alessandra C; Anson, Martin; Cherkas, Lynn; Mataix-Cols, David

    2012-06-01

    Body dysmorphic disorder (BDD) is thought to be etiologically related to obsessive-compulsive disorder (OCD) but the available evidence is incomplete. The current study examined the genetic and environmental sources of covariance between body dysmorphic and obsessive-compulsive symptoms in a community sample of adult twins. A total of 2,148 female twins (1,074 pairs) completed valid and reliable measures of body dysmorphic concerns and obsessive-compulsive symptoms. The data were analyzed using bivariate twin modeling methods and the statistical programme Mx. In the best-fitting model, the covariation between body dysmorphic and obsessive-compulsive traits was largely accounted for by genetic influences common to both phenotypes (64%; 95% CI: 0.50-0.80). This genetic overlap was even higher when specific obsessive-compulsive symptom dimensions were considered, with up to 82% of the phenotypic correlation between the obsessing and symmetry/ordering symptom dimensions and dysmorphic concerns being attributable to common genetic factors. Unique environmental factors, although influencing these traits individually, did not substantially contribute to their covariation. The results remained unchanged when excluding individuals reporting an objective medical condition/injury accounting for their concern in physical appearance. The association between body dysmorphic concerns and obsessive-compulsive symptoms is largely explained by shared genetic factors. Environmental risk factors were largely unique to each phenotype. These results support current recommendations to group BDD together with OCD in the same DSM-5 chapter, although comparison with other phenotypes such as somatoform disorders and social phobia is needed.

  17. Twins with omphalocele in Denmark (1970-1989)

    DEFF Research Database (Denmark)

    Bugge, Merete

    2010-01-01

    Seven pairs of twins, two monozygotic (MZ), two dizygotic (DZ), and three like-sex pairs of unknown zygosity are described. The twin pairs were all discordant for omphalocele except for one pair of conjoined twins. The 8 infants with omphalocele represent 3.1% of the 253 infants with omphalocele......, ascertained in an almost complete nationwide data set of live- and stillborn infants with abdominal wall defects in two decades in Denmark (1970-1989). The occurrence of twins with omphalocele was not significantly different from the occurrence of twins in the Danish population in the same period. To our...... knowledge this is the first report of the occurrence of twins with omphalocele in a systematic nationwide epidemiological study....

  18. Increased risk of type 2 diabetes in elderly twins

    DEFF Research Database (Denmark)

    Poulsen, Pernille; Grunnet, Louise G; Pilgaard, Kasper

    2009-01-01

    OBJECTIVE: Genetic susceptibility, low birth weight (LBW), and aging are key etiological factors in the development of type 2 diabetes. LBW is common among twins. It is unknown whether twin status per se is associated with risk of type 2 diabetes, and valid concordance rates of type 2 diabetes...... in twins on a lifetime perspective are lacking. RESEARCH DESIGN AND METHODS: A clinical study was done on a population-based cohort of same-sex elderly monozygotic (MZ) and dizygotic (DZ) twins (n = 297) and singleton control subjects (C) (n = 71) including measures of anthropometry and glucose tolerance....... In addition, type 2 diabetes incidence cases in twins (n = 626) and singletons (n = 553) were identified through the National Diabetes Register. RESULTS: Twins were more abdominally obese, insulin resistant, and glucose intolerant, as evidenced by a higher A1C (%) (means +/- SD) (MZ: 6.0 +/- 1.0, DZ: 5...

  19. Quality of life in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Bech, Per; Kyvik, Kirsten Ohm

    2006-01-01

    BACKGROUND: The disability and hardship associated with affective disorder is shared by the family members of affective patients and might affect the family member's quality of life. METHOD: In a cross-sectional, high-risk, case-control study, monozygotic (MZ) and dizygotic (DZ) twins with (High...... of life. RESULTS: Univariate analyses showed that quality of life in all domains was impaired for the 121 High-Risk twins compared to the 84 Low-Risk twins. In multiple regression analyses, the differences remained significant after adjustment for sex, age, marital status and years of education. Adjusted...

  20. Reproductive factors associated with mammographic density: a Korean co-twin control study.

    Science.gov (United States)

    Sung, Joohon; Song, Yun-Mi; Stone, Jennifer; Lee, Kayoung; Lee, Donghun

    2011-07-01

    To determine the mechanism by which menstrual and reproductive factors are associated with the risk of breast cancer, we examined the relationships between mammographic density and known menstrual and reproductive risk factors for breast cancer. A co-twin control study was conducted with 122 pairs of monozygotic Korean female twins selected from the Healthy Twin study. Mammographic density was measured from digital mammograms using a computer-assisted method. Information on selected menstrual and reproductive factors was collected through a self-administered questionnaire. Within-pair differences for each mammographic measure were regressed against within-pair differences for each menstrual and reproductive risk factor with an adjustment for body mass index and other menstrual and reproductive factors. The percent dense area was inversely associated with the age at the first full-term childbirth (FFTB) and the number of live births, although the associations were marginally significant with an adjustment for BMI and other reproductive factors. The non-dense area was positively associated with the age at the FFTB and the number of live births. The absolute dense area was positively associated with the duration of breast feeding. The age at menarche was not associated with any component of the mammographic measures. This finding suggests that mammographic density can mediate the protective effect of greater parity against breast cancer, at least in part while age at menarche, age at the FFTB, and breast feeding do not exert their effects through mammographic density.

  1. Cannabis and Depression: A Twin Model Approach to Co-morbidity.

    Science.gov (United States)

    Smolkina, M; Morley, K I; Rijsdijk, F; Agrawal, A; Bergin, J E; Nelson, E C; Statham, D; Martin, N G; Lynskey, M T

    2017-07-01

    Cannabis use disorder (CUD) co-occurs with major depressive disorder (MDD) more frequently than would be expected by chance. However, studies to date have not produced a clear understanding of the mechanisms underlying this co-morbidity. Genetically informative studies can add valuable insight to this problem, as they allow the evaluation of competing models of co-morbidity. This study uses data from the Australian Twin Registry to compare 13 co-morbidity twin models initially proposed by Neale and Kendler (Am J Hum Genet 57:935-953, 1995). The analysis sample comprised 2410 male and female monozygotic and dizygotic twins (average age 32) who were assessed on CUD and MDD using the SSAGA-OZ interview. Data were analyzed in OpenMx. Of the 13 different co-morbidity models, two fit equally well: CUD causes MDD and Random Multiformity of CUD. Both fit substantially better than the Correlated Liabilities model. Although the current study cannot differentiate between them statistically, these models, in combination, suggest that CUD risk factors may causally influence the risk to develop MDD, but only when risk for CUD is high.

  2. The Spread of Substance Use and Delinquency between Adolescent Twins

    Science.gov (United States)

    Laursen, Brett; Hartl, Amy C.; Vitaro, Frank; Brendgen, Mara; Dionne, Ginette; Boivin, Michel

    2017-01-01

    This investigation examines the spread of problem behaviors (substance use and delinquency) between twin siblings. A sample of 628 twins (151 male twin pairs and 163 female twin pairs) drawn from the Quebec Newborn Twin Study completed inventories describing delinquency and substance use at ages 13, 14, and 15. A 3-wave longitudinal actor-partner…

  3. Intravenous maternal -arginine administration to twin-bearing ewes, during late pregnancy, is associated with increased fetal muscle mTOR abundance and postnatal growth in twin female lambs.

    Science.gov (United States)

    Sales, F; Sciascia, Q; van der Linden, D S; Wards, N J; Oliver, M H; McCoard, S A

    2016-06-01

    The aims of this study were to determine whether parenteral Arg administered to well-fed twin-bearing ewes from 100 to 140 d of pregnancy influences fetal skeletal muscle growth, the abundance and activation of mechanistic target of rapamycin (mTOR) protein, and postnatal muscle growth of the offspring. Ewes fed 100% of NRC-recommended nutrient requirements for twin-bearing ewes were administered an intravenous bolus of either 345 μmol Arg HCl/kg BW or saline solution (Control) 3 times per day. At 140 d of pregnancy (P140), a group of 11 Control and 9 Arg-treated ewes were euthanized and hind leg muscles and longissimus dorsi (LD) were excised and weighed. A sample of LD was snap frozen in liquid nitrogen for later analysis of free AA (FAA) concentration, mTOR abundance and phosphorylation, and biochemical indices (DNA, RNA, and protein content). For the remaining 25 ewes (Arg, = 13, and Control, = 12), Arg administration was continued until the initiation of parturition and ewes were allowed to lamb. Lambs were weaned at postnatal Day 82 and grazed on pasture until postnatal day 153 (PN153), when a subset of 20 lambs ( = 10 per group) was euthanized. At P140, only the psoas major was heavier in the Arg-administered group compared with the Control group. Female lambs from ewes supplemented with Arg (Arg-F) had increased abundance of total mTOR, RNA concentration, and RNA:DNA ratio in LD compared with female lambs from Control ewes (Con-F), whereas males did not differ. At PN153, Arg-F were heavier than Con-F and had heavier LD and plantaris and a trend for heavier psoas major muscles compared with Con-F. In contrast, BW and individual muscle weights did not differ in male lambs. Lambs from Arg-treated ewes had heavier semimembranosus and tended to have heavier biceps femoris compared with Control lambs. The RNA concentration in LD was greater in Arg-F compared with Con-F, and DNA concentration was greater in the Arg group compared with the Control group. In

  4. Genetic and environmental determinants on bone loss in postmenopausal Caucasian women: a 14-year longitudinal twin study.

    Science.gov (United States)

    Zhai, G; Andrew, T; Kato, B S; Blake, G M; Spector, T D

    2009-06-01

    This longitudinal twin study documented that genetic factors explain 44-56% of the between-individual variance in bone loss at femoral neck, lumbar spine, and forearm in postmenopausal Caucasian women, providing a rationale for identifying the specific genes involved. Although there is a significant genetic effect on peak BMD, until recently, no substantive studies on heritability of bone loss in human were available. The aim of the study was to estimate the heritability of the bone loss at multiple sites in postmenopausal Caucasian women. Postmenopausal female monozygotic (MZ) and dizygotic (DZ) twins aged 40 or above at baseline were selected from the TwinsUK registry and followed up for an average of 8 years (range 5-14 years). All twins were noncurrent hormone replacement therapy users and not on any osteoporosis treatment. They had dual-energy X-ray absorptiometry (DXA) scans of their hip, lumbar spine, and forearm several times (range 2-9) during the follow-up period. Individual bone losses at femoral neck, lumbar spine, and forearm were estimated by linear regression modeling. Structural equation modeling was utilized to estimate the heritability of the bone loss. A total of 712 postmenopausal Caucasian female twins (152 MZ and 204 DZ pairs) were included. MZ twins were older and had slightly lower BMD at all sites than DZ twins. DZ twins had slightly higher bone loss at lumbar spine, but similar at femoral neck and forearm compared to MZ twins. Intraclass correlation coefficients (ICC) for the bone loss at all sites were significantly higher in MZ than DZ twin pairs (p = 0.0045, 0.0003, and 0.0007 for femoral neck, lumbar spine, and forearm, respectively), indicating a significant genetic influence on bone loss at these sites. After adjustment for age at baseline and weight change during the follow-up, the heritability estimate was 47% (95% CI 27-63%) for bone loss at femoral neck, 44% (95% CI 27-58%) for lumbar spine, and 56% (95% CI 44-65%) for forearm

  5. A recent rise in twin birth rates and demographic changes in mothers of twins in South Korea: 2003-2007.

    Science.gov (United States)

    Hur, Yoon-Mi; Song, Tae-Bok

    2009-02-01

    Using the South Korean national live birth data for the years 2003 to 2007, monozygotic (MZ) and dizygotic (DZ) twin birth rates were estimated and analyzed by maternal age, and parents of twins and those of singletons were compared in their level of education. During this period, while the MZ twin birth rate showed no change, the DZ twin birth rate increased up to 9.4 pairs per thousand births. This rate is close to five times as high as the natural DZ twinning rate in the South Korean population. The highest twinning rate occurred among mothers aged 30 to 34 years, followed by mothers aged 25 to 29. These results represented the first evidence for the downward trend in ages of mothers of twins. In each year between 2003 and 2006, percentages of parents who completed college or higher level of education were higher in the twin than in the singleton group, suggesting that the parental socioeconomic level became higher in twins than in singletons. We speculated that these demographic changes occurred because assisted reproductive technology was more easily available among parents of high socioeconomic status. In their sampling strategies, twin researchers should consider our findings of recent changes in demographic characteristics of parents of twins as well as increased DZ twin birth rates.

  6. A twin-sibling study on the relationship between exercise attitudes and exercise behavior.

    Science.gov (United States)

    Huppertz, Charlotte; Bartels, Meike; Jansen, Iris E; Boomsma, Dorret I; Willemsen, Gonneke; de Moor, Marleen H M; de Geus, Eco J C

    2014-01-01

    Social cognitive models of health behavior propose that individual differences in leisure time exercise behavior are influenced by the attitudes towards exercise. At the same time, large scale twin-family studies show a significant influence of genetic factors on regular exercise behavior. This twin-sibling study aimed to unite these findings by demonstrating that exercise attitudes can be heritable themselves. Secondly, the genetic and environmental cross-trait correlations and the monozygotic (MZ) twin intrapair differences model were used to test whether the association between exercise attitudes and exercise behavior can be causal. Survey data were obtained from 5,095 twins and siblings (18-50 years). A genetic contribution was found for exercise behavior (50 % in males, 43 % in females) and for the six exercise attitude components derived from principal component analysis: perceived benefits (21, 27 %), lack of skills, support and/or resources (45, 48 %), time constraints (25, 30 %), lack of energy (34, 44 %), lack of enjoyment (47, 44 %), and embarrassment (42, 49 %). These components were predictive of leisure time exercise behavior (R(2) = 28 %). Bivariate modeling further showed that all the genetic (0.36 < |rA| < 0.80) and all but two unique environmental (0.00 < |rE| < 0.27) correlations between exercise attitudes and exercise behavior were significantly different from zero, which is a necessary condition for the existence of a causal effect driving the association. The correlations between the MZ twins' difference scores were in line with this finding. It is concluded that exercise attitudes and exercise behavior are heritable, that attitudes and behavior are partly correlated through pleiotropic genetic effects, but that the data are compatible with a causal association between exercise attitudes and behavior.

  7. Finding the needle in the haystack: differentiating "identical" twins in paternity testing and forensics by ultra-deep next generation sequencing.

    Science.gov (United States)

    Weber-Lehmann, Jacqueline; Schilling, Elmar; Gradl, Georg; Richter, Daniel C; Wiehler, Jens; Rolf, Burkhard

    2014-03-01

    Monozygotic (MZ) twins are considered being genetically identical, therefore they cannot be differentiated using standard forensic DNA testing. Here we describe how identification of extremely rare mutations by ultra-deep next generation sequencing can solve such cases. We sequenced DNA from sperm samples of two twins and from a blood sample of the child of one twin. Bioinformatics analysis revealed five single nucleotide polymorphisms (SNPs) present in the twin father and the child, but not in the twin uncle. The SNPs were confirmed by classical Sanger sequencing. Our results give experimental evidence for the hypothesis that rare mutations will occur early after the human blastocyst has split into two, the origin of twins, and that such mutations will be carried on into somatic tissue and the germline. The method provides a solution to solve paternity and forensic cases involving monozygotic twins as alleged fathers or originators of DNA traces.

  8. Use of a twin dataset to identify AMD-related visual patterns controlled by genetic factors

    Science.gov (United States)

    Quellec, Gwénolé; Abràmoff, Michael D.; Russell, Stephen R.

    2010-03-01

    The mapping of genotype to the phenotype of age-related macular degeneration (AMD) is expected to improve the diagnosis and treatment of the disease in a near future. In this study, we focused on the first step to discover this mapping: we identified visual patterns related to AMD which seem to be controlled by genetic factors, without explicitly relating them to the genes. For this purpose, we used a dataset of eye fundus photographs from 74 twin pairs, either monozygotic twins, who have the same genotype, or dizygotic twins, whose genes responsible for AMD are less likely to be identical. If we are able to differentiate monozygotic twins from dizygotic twins, based on a given visual pattern, then this pattern is likely to be controlled by genetic factors. The main visible consequence of AMD is the apparition of drusen between the retinal pigment epithelium and Bruch's membrane. We developed two automated drusen detectors based on the wavelet transform: a shape-based detector for hard drusen, and a texture- and color- based detector for soft drusen. Forty visual features were evaluated at the location of the automatically detected drusen. These features characterize the texture, the shape, the color, the spatial distribution, or the amount of drusen. A distance measure between twin pairs was defined for each visual feature; a smaller distance should be measured between monozygotic twins for visual features controlled by genetic factors. The predictions of several visual features (75.7% accuracy) are comparable or better than the predictions of human experts.

  9. Methylation matters? Decreased methylation status of genomic DNA in the blood of schizophrenic twins.

    Science.gov (United States)

    Bönsch, Dominikus; Wunschel, Michael; Lenz, Bernd; Janssen, Gesa; Weisbrod, Matthias; Sauer, Heinrich

    2012-08-15

    Studies of schizophrenia inheritance in identical twins show a concordance of about 50%, which supports an epigenetic model. In our present study we investigated methylation of genomic DNA and promoter methylation of Reelin and SOX10 genes in peripheral blood of twins suffering from schizophrenia. Global DNA methylation was reduced (52.3%) in schizophrenic twins if compared with healthy control twins (65.7%). The reduced methylation was significant in males only. We also found a similar hypomethylation in the non-affected twins of discordant pairs and a mixed group of psychiatric controls. In discordant twins there was a relative hypermethylation of the SOX10 promoter. Within-pair-difference of methylation of Reelin promoter was significantly lower in monozygotic twins than in dizygotic twins.

  10. The season of birth of schizophrenic, neurotic and psychiatrically normal twins.

    Science.gov (United States)

    Kendler, K S

    1982-08-01

    The quarter of birth of 536 schizophrenic, 1,991 neurotic and 12,085 psychiatrically normal twin pairs from the National Academy of Sciences-National Research Council Twin Registry was compared. When either all twin pairs, or only monozygotic or dizygotic twin pairs, were considered, no significant differences were found in the quarter of birth between the 3 groups. No difference in quarter of birth was found for twin pairs concordant versus discordant for schizophrenia. Despite the increased risk for intrauterine and perinatal complications in twin births, schizophrenic twins appear (at least) to be no more vulnerable than schizophrenic singletons to the seasonal gestation and birth-related insults which probably underlie the seasonality in schizophrenic births. Controlling for season of birth probably has little effect on the results of twin studies of schizophrenia.

  11. Twin births

    DEFF Research Database (Denmark)

    Hoffmann, Elise; Oldenburg, Anna; Rode, Line;

    2012-01-01

    To assess morbidity and mortality in twin pregnancy deliveries, according to chorionicity and mode of delivery.......To assess morbidity and mortality in twin pregnancy deliveries, according to chorionicity and mode of delivery....

  12. Disease-Concordant Twins Empower Genetic Association Studies

    DEFF Research Database (Denmark)

    Tan, Qihua; Li, Weilong; Vandin, Fabio

    2017-01-01

    Genome-wide association studies with moderate sample sizes are underpowered, especially when testing SNP alleles with low allele counts, a situation that may lead to high frequency of false-positive results and lack of replication in independent studies. Related individuals, such as twin pairs...... concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases...... and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient...

  13. Surgical management of pygopagus conjoined twins with spinal bifida.

    Science.gov (United States)

    Awasthi, Rahul; Iyengar, Raghvan; Rege, Shrikant; Jain, Nilesh

    2015-05-01

    Conjoined twins are a rare complication of 9 monozygotic twins and are associated with high perinatal mortality. Pygopagus are one of the rare types of conjoined twins with only a handful of cases reported in the literature. We present the case of one-and-half month-old male pygopagus conjoined twins, who were joined together dorsally in lower lumbar and sacral region and had spina bifida and shared a single thecal sac with combined weight of 6.14 kg. Spinal cord was separated at the level of the conus followed by duraplasty. They had uneventful recovery with normal 15 months follow-up. Separation of conjoined twins is recommended in where this is feasible with the anticipated survival of both or one infant.

  14. Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort

    DEFF Research Database (Denmark)

    Maas, Iris Lianne; Brüggemann, Petra; Requena, Teresa

    2017-01-01

    PURPOSE: Genetic contributions to tinnitus have been difficult to determine due to the heterogeneity of the condition and its broad etiology. Here, we evaluated the genetic and nongenetic influences on self-reported tinnitus from the Swedish Twin Registry (STR). METHODS: Cross-sectional data from...... the STR was obtained. Casewise concordance rates (the risk of one twin being affected given that his/her twin partner has tinnitus) were compared for monozygotic (MZ) and dizygotic (DZ) twin pairs (N = 10,464 concordant and discordant twin pairs) and heritability coefficients (the proportion of the total...... variance attributable to genetic factors) were calculated using biometrical model fitting procedures. RESULTS: Stratification of tinnitus cases into subtypes according to laterality (unilateral versus bilateral) revealed that heritability of bilateral tinnitus was 0.56; however, it was 0.27 for unilateral...

  15. Establishing a Twin Registry in Guinea-Bissau

    DEFF Research Database (Denmark)

    Bjerregaard-Andersen, Morten; Gomes, Margarida A; Joaquím, Luis C

    2013-01-01

    Twins traditionally retain a special status in many African societies. In Guinea-Bissau, twins are often well regarded yet still suffer from a very high mortality, especially in the perinatal and infant period. At the Bandim Health Project, a health and demographic surveillance site, we have...... recently established one of the first twin registries in Sub-Saharan Africa. Our short-term aim is to describe twin mortality and morbidity in order to design appropriate health interventions. Our long-term goal is a large-scale database to explore the pathogenesis of prevalent diseases; for example......, diabetes mellitus, metabolic syndrome, and infectious diseases such as HIV, tuberculosis, and malaria. A major focus area is also the etiology of low birth weight and how epigenetic processes might modulate the consequences of low birth weight in Sub-Saharan Africa. For this, monozygotic twin studies...

  16. Mirror-image trigger thumb in dichorionic identical twins.

    Science.gov (United States)

    Wang, Eric D; Xu, Xiaoti; Dagum, Alexander B

    2012-06-01

    The congenital vs acquired etiology of pediatric trigger thumb is the subject of considerable debate. Existing case reports of bilateral presentation in identical twins and first-degree familial association support the congenital hypothesis. However, prospective studies have yet to report a neonate presenting with this anomaly at birth. This article describes the first known set of dichorionic, monozygotic identical twins with unilateral trigger thumbs, affecting contralateral (mirror-image) hands and with asynchronous age at presentation (11 months and 18 months, respectively).Pediatric trigger thumb is caused by a mismatch between the flexor pollicis longus tendon and its A1 synovial pulley. Four sets of twins have been previously reported in the literature with trigger thumb. Of these, 3 sets were monozygotic twins who had bilaterally affected thumbs. Together with the absence of trauma, a congenital etiology was suggested. The fact that pediatric trigger thumb is generally seen several months after birth was felt to be due to infants holding their thumbs clutched in their palms until 6 months. However, no confirmed cases of trigger thumb have been diagnosed at birth in several large prospective studies of newborns.In the current case, the asynchronous presentation of unilateral trigger thumbs in identical twins does not support a solely congenital cause. Furthermore, the mirror-image presentation contradicts current embryological understanding of the temporal course of twinning and the determination of laterality. Thus, a multifactorial etiology is supported with both a genetic and acquired component affecting the development of this condition. Copyright 2012, SLACK Incorporated.

  17. Genetic and environmental influences on risk of death due to infections assessed in Danish twins, 1943-2001

    DEFF Research Database (Denmark)

    Obel, Niels; Christensen, Kaare; Petersen, Inge

    2010-01-01

    Genetic differences have been proposed to play a strong role in risk of death from infectious diseases. The study base of 44,005 included all same-sex twin pairs born in 1870-2001, with both twins alive on January 1, 1943, or those born thereafter. Cause of death was obtained from the Danish Cause...... of Death Register and was available for 18,359 deaths. The authors classified death due to infections by 3 definitions (narrow, broader, and broadest) and calculated concordance rates for same-sex monozygotic and dizygotic twin pairs. Heritability was estimated by using structural equation models. When...... the 3 definitions were applied, 211 (1.1%), 1,089 (5.9%), and 2,907 (15.8%) deaths, respectively, were due to infections. The probandwise concordance rates for monozygotic twin pairs were consistently higher than for dizygotic twin pairs regardless of the definition (9% vs. 0% (P = 0.04), 10% vs. 3% (P...

  18. Monochorionic twins with the same blood karyotype of 46,XY/47,XYY but different phenotypes.

    Science.gov (United States)

    Wuttikonsammakit, Piyawadee; Tanawattanacharoen, Somchai; Uerpairojkit, Boonchai

    2010-02-01

    We report the case of a 13-year-old woman who was pregnant with phenotypically discordant monochorionic twins: one with cystic hygroma and hydrops, the other one normal. Fetal blood sampling was performed by intrahepatic blood collection for karyotyping of both fetuses, revealing the same genotype of 46,XY/47,XYY in 2:1 proportion. Phenotypic discordance in monozygotic twins can have various causes, such as placental vascular anatomy, differences in allocation of the number of blastomeres or genetic postzygotic events.

  19. Genetic contribution to the relationship between social role function and depressive symptoms in Japanese elderly twins: a twin study.

    Science.gov (United States)

    Nishihara, Reiko; Inui, Fujio; Kato, Kenji; Tomizawa, Rie; Hayakawa, Kazuo

    2011-03-01

    Social role function is the capacity to maintain interpersonal relationships and is essential for being independent in the community. Limitations in social role function often coexist with depressive symptoms, suggesting a possible common mechanistic basis. We investigated whether the observed association between these traits is mainly a result of genetic or environmental influences. In 2008, a questionnaire was sent to 745 male twins aged 65 years and older. Our sample included 397 male twins. The number of monozygotic twins was 302, and dizygotic was 95. Among the twin pairs for whom data were available for both twins, 75 twin pairs (150 individuals) were monozygotic and 28 pairs (56 individuals) were dizygotic. Social role function was assessed using the Tokyo Metropolitan Institute of Gerontology Index of Competence. Depressive symptoms were measured by the 15-item version of the Geriatric Depression Scale. Relative importance of genes and environments for the phenotypes was calculated using structural equation analyses. Our results show that genetic influence was the major contributor to the relationship between social role function and depressive symptoms, and non-shared environmental influence was important for overall variation in each trait. We concluded that focusing on a non-shared environment is an essential approach for maintaining social role function and psychological well-being. It is suggested that treatments specific to depressive symptoms are more effective than indirect intervention targeting social role function. © 2011 The Authors. Psychogeriatrics © 2011 Japanese Psychogeriatric Society.

  20. Intrapair Similarity of Computer Self-Efficacy in Turkish Adolescent Twins

    Science.gov (United States)

    Deryakulu, Deniz; Mcilroy, David; Ursavas, Ömer Faruk; Çaliskan, Erkan

    2016-01-01

    The purpose of this study is to investigate genetic and environmental influences on computer self-efficacy. A total of 165 Turkish twin-pairs participated in the study. Participants' mean age was 12.45 (SD = 1.82). The results of paired t-test comparisons showed no significant differences in monozygotic, and both same-sex and opposite-sex…

  1. Intravenous iron administration together with parenteral nutrition to very preterm Jehovah's Witness twins

    DEFF Research Database (Denmark)

    Poorisrisak, Porntiva; Schroeder, Allan Mikael; Greisen, Gorm

    2014-01-01

    Preterm twin sisters (monozygotic) were born at gestational age 27 weeks and 5 days with birth weights of 935 and 735 g. They were admitted to our neonatal intensive care unit for a period of 1 month. Their parents were Jehovah's Witnesses and refused blood transfusion for their preterm daughters...

  2. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

    DEFF Research Database (Denmark)

    Nielsen, Mette Gilling; Lind-Thomsen, Allan; Mang, Yuan;

    2011-01-01

    In a monozygotic twin couple with mental retardation (MR), we identified a maternally inherited inversion and a paternally inherited translocation: 46,XY,inv(10)(p11.2q21.2)mat,t(9;18)(p22;q21.1)pat. The maternally inherited inv(10) was a benign variant without any apparent phenotypical implicati...

  3. Twin's Birth-Order Differences in Height and Body Mass Index From Birth to Old Age

    DEFF Research Database (Denmark)

    Yokoyama, Yoshie; Jelenkovic, Aline; Sund, Reijo

    2016-01-01

    We analyzed birth order differences in means and variances of height and body mass index (BMI) in monozygotic (MZ) and dizygotic (DZ) twins from infancy to old age. The data were derived from the international CODATwins database. The total number of height and BMI measures from 0.5 to 79.5 years ...

  4. Mate choice and friendship in twins: evidence for genetic similarity.

    Science.gov (United States)

    Rushton, J Philippe; Bons, Trudy Ann

    2005-07-01

    This study examined the genetic and environmental contribution to people's preference for spouses and friends to be similar to themselves. In their responses to 130 personality, attitude, and demographic questions, 174 pairs of monozygotic (MZ) twins resembled each other (r= .53) more than did 148 pairs of dizygotic (DZ) twins (r= .32), 322 pairs of spouses (r= .32), and 563 pairs of best friends (r= .20). It was not previously recognized that spouses and friends are as similar as DZ twins. MZ twins also chose spouses and best friends more similar to their co-twins' friends and spouses than did DZ twins (mean rs = .22 vs. .14). The twins' preference for spouses and friends similar to themselves was about 34% due to the twins' genes, 12% due to the twins' common environment, and 54% due to the twins' unique (nonshared) environment. Similarity to partners was more pronounced on the more heritable items than the less heritable items. It is concluded that people are genetically inclined to choose as social partners those who resemble themselves at a genetic level.

  5. Current twin studies in Germany: report on CoSMoS, SOEP, and ChronoS.

    Science.gov (United States)

    Hahn, Elisabeth; Gottschling, Juliana; Spinath, Frank M

    2013-02-01

    This article summarizes the status of three recent German twin studies: CoSMoS, SOEP, and ChronoS. The German twin study on Cognitive Ability, Self-Reported Motivation, and School Achievement (CoSMoS) is a three-wave longitudinal study of monozygotic and dizygotic twins reared together, and aims to investigate predictors of and influences on school performance. In the first wave of the data collection in 2005, 408 pairs of twins aged between 7 and 11 as well as their parents participated in CoSMoS. The SOEP twin study is an extended twin study, which has combined data from monozygotic and dizygotic twins reared together with additional data from full sibling pairs, mother-child, and grandparent-child dyads who participated in the German Socio-Economic Panel (GSOEP) study. The SOEP twin project comprises about 350 twin and 950 non-twin pairs aged between 17 and 70. Data were collected between 2009 and 2010, with a focus on personality traits, wellbeing, education, employment, income, living situation, life-satisfaction, and several attitudes. The aim of the Chronotype twin study (ChronoS) was to examine genetic and environmental influences on chronotype (morningness and eveningness), coping strategies, and several aspects of the previous SOEP twin project in a sample of 301 twin pairs aged between 19 and 76 years, recruited in 2010 and 2011. Part of the ChronoS twin sample also participated in the earlier SOEP twin study, representing a second wave of assessments. We briefly describe the design and contents of these three studies as well as selected recent findings.

  6. Imperfect twinning: a clinical and ethical dilemma

    Science.gov (United States)

    Denardin, Daniela; Telles, Jorge Alberto B.; Betat, Rosilene da Silveira; Fell, Paulo Renato K.; da Cunha, André Campos; Targa, Luciano Vieira; Zen, Paulo Ricardo G.; Rosa, Rafael Fabiano M.

    2013-01-01

    OBJECTIVE To review the history, epidemiology, etiology, gestational aspects, diagnosis and prognosis of imperfect twinning. DATA SOURCES Scientific articles were searched in PubMed, SciELO and Lilacs databases, using the descriptors "conjoined twins", "multiple pregnancy", "ultrasound", "magnetic resonance imaging" and "prognosis". The research was not delimited to a specific period of time and was supplemented with bibliographic data from books. DATA SYNTHESIS: The description of conjoined twins is legendary. The estimated frequency is 1/45,000-200,000 births. These twins are monozygotic, monochorionic and usually monoamniotic. They can be classified by the most prominent fusion site, by the symmetry between the conjoined twins or by the sharing structure. The diagnosis can be performed in the prenatal period or after birth by different techniques, such as ultrasound, magnetic resonance imaging and echocardiography. These tests are of paramount importance for understanding the anatomy of both fetuses/children, as well as for prognosis and surgical plan determination. CONCLUSIONS Although imperfect twinning is a rare condition, the prenatal diagnosis is very important in order to evaluate the fusion site and its complexity. Hence, the evaluation of these children should be multidisciplinary, involving mainly obstetricians, pediatricians and pediatric surgeons. However, some decisions may constitute real ethical dilemmas, in which different points should be discussed and analyzed with the health team and the family. PMID:24142323

  7. Imperfect twinning: a clinical and ethical dilemma.

    Science.gov (United States)

    Denardin, Daniela; Telles, Jorge Alberto B; Betat, Rosilene da Silveira; Fell, Paulo Renato K; Cunha, André Campos da; Targa, Luciano Vieira; Zen, Paulo Ricardo G; Rosa, Rafael Fabiano M

    2013-09-01

    OBJECTIVE To review the history, epidemiology, etiology, gestational aspects, diagnosis and prognosis of imperfect twinning. DATA SOURCES Scientific articles were searched in PubMed, SciELO and Lilacs databases, using the descriptors "conjoined twins", "multiple pregnancy", "ultrasound", "magnetic resonance imaging" and "prognosis". The research was not delimited to a specific period of time and was supplemented with bibliographic data from books. The description of conjoined twins is legendary. The estimated frequency is 1/45,000-200,000 births. These twins are monozygotic, monochorionic and usually monoamniotic. They can be classified by the most prominent fusion site, by the symmetry between the conjoined twins or by the sharing structure. The diagnosis can be performed in the prenatal period or after birth by different techniques, such as ultrasound, magnetic resonance imaging and echocardiography. These tests are of paramount importance for understanding the anatomy of both fetuses/children, as well as for prognosis and surgical plan determination. CONCLUSIONS Although imperfect twinning is a rare condition, the prenatal diagnosis is very important in order to evaluate the fusion site and its complexity. Hence, the evaluation of these children should be multidisciplinary, involving mainly obstetricians, pediatricians and pediatric surgeons. However, some decisions may constitute real ethical dilemmas, in which different points should be discussed and analyzed with the health team and the family.

  8. Imperfect twinning: a clinical and ethical dilemma

    Directory of Open Access Journals (Sweden)

    Daniela Denardin

    2013-09-01

    Full Text Available OBJECTIVE To review the history, epidemiology, etiology, gestational aspects, diagnosis and prognosis of imperfect twinning. DATA SOURCES Scientific articles were searched in PubMed, SciELO and Lilacs databases, using the descriptors "conjoined twins", "multiple pregnancy", "ultrasound", "magnetic resonance imaging" and "prognosis". The research was not delimited to a specific period of time and was supplemented with bibliographic data from books. DATA SYNTHESIS: The description of conjoined twins is legendary. The estimated frequency is 1/45,000-200,000 births. These twins are monozygotic, monochorionic and usually monoamniotic. They can be classified by the most prominent fusion site, by the symmetry between the conjoined twins or by the sharing structure. The diagnosis can be performed in the prenatal period or after birth by different techniques, such as ultrasound, magnetic resonance imaging and echocardiography. These tests are of paramount importance for understanding the anatomy of both fetuses/children, as well as for prognosis and surgical plan determination. CONCLUSIONS Although imperfect twinning is a rare condition, the prenatal diagnosis is very important in order to evaluate the fusion site and its complexity. Hence, the evaluation of these children should be multidisciplinary, involving mainly obstetricians, pediatricians and pediatric surgeons. However, some decisions may constitute real ethical dilemmas, in which different points should be discussed and analyzed with the health team and the family.

  9. Aging Trajectories in Different Body Systems Share Common Environmental Etiology: The Healthy Aging Twin Study (HATS).

    Science.gov (United States)

    Moayyeri, Alireza; Hart, Deborah J; Snieder, Harold; Hammond, Christopher J; Spector, Timothy D; Steves, Claire J

    2016-02-01

    Little is known about the extent to which aging trajectories of different body systems share common sources of variance. We here present a large twin study investigating the trajectories of change in five systems: cardiovascular, respiratory, skeletal, morphometric, and metabolic. Longitudinal clinical data were collected on 3,508 female twins in the TwinsUK registry (complete pairs:740 monozygotic (MZ), 986 dizygotic (DZ), mean age at entry 48.9 ± 10.4, range 18-75 years; mean follow-up 10.2 ± 2.8 years, range 4-17.8 years). Panel data on multiple age-related variables were used to estimate biological ages for each individual at each time point, in linear mixed effects models. A weighted average approach was used to combine variables within predefined body system groups. Aging trajectories for each system in each individual were then constructed using linear modeling. Multivariate structural equation modeling of these aging trajectories showed low genetic effects (heritability), ranging from 2% in metabolic aging to 22% in cardiovascular aging. However, we found a significant effect of shared environmental factors on the variations in aging trajectories in cardiovascular (54%), skeletal (34%), morphometric (53%), and metabolic systems (53%). The remainder was due to environmental factors unique to each individual plus error. Multivariate Cholesky decomposition showed that among aging trajectories for various body systems there were significant and substantial correlations between the unique environmental latent factors as well as shared environmental factors. However, there was no evidence for a single common factor for aging. This study, the first of its kind in aging, suggests that diverse organ systems share non-genetic sources of variance for aging trajectories. Confirmatory studies are needed using population-based twin cohorts and alternative methods of handling missing data.

  10. A generalized Defries-Fulker regression framework for the analysis of twin data.

    Science.gov (United States)

    Lazzeroni, Laura C; Ray, Amrita

    2013-01-01

    Twin studies compare the similarity between monozygotic twins to that between dizygotic twins in order to investigate the relative contributions of latent genetic and environmental factors influencing a phenotype. Statistical methods for twin data include likelihood estimation and Defries-Fulker regression. We propose a new generalization of the Defries-Fulker model that fully incorporates the effects of observed covariates on both members of a twin pair and is robust to violations of the Normality assumption. A simulation study demonstrates that the method is competitive with likelihood analysis. The Defries-Fulker strategy yields new insight into the parameter space of the twin model and provides a novel, prediction-based interpretation of twin study results that unifies continuous and binary traits. Due to the simplicity of its structure, extensions of the model have the potential to encompass generalized linear models, censored and truncated data; and gene by environment interactions.

  11. Disease-Concordant Twins Empower Genetic Association Studies.

    Science.gov (United States)

    Tan, Qihua; Li, Weilong; Vandin, Fabio

    2017-01-01

    Genome-wide association studies with moderate sample sizes are underpowered, especially when testing SNP alleles with low allele counts, a situation that may lead to high frequency of false-positive results and lack of replication in independent studies. Related individuals, such as twin pairs concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases and ordinary healthy samples as controls. We examined the power gain of the twin-based design for various scenarios (i.e., cases from monozygotic and dizygotic twin pairs concordant for a disease) and compared the power with the ordinary case-control design with cases collected from the unrelated patient population. Simulation was done by assigning various allele frequencies and allelic relative risks for different mode of genetic inheritance. In general, for achieving a power estimate of 80%, the sample sizes needed for dizygotic and monozygotic twin cases were one half and one fourth of the sample size of an ordinary case-control design, with variations depending on genetic mode. Importantly, the enriched power for dizygotic twins also applies to disease-concordant sibling pairs, which largely extends the application of the concordant twin design. Overall, our simulation revealed a high value of disease-concordant twins in genetic association studies and encourages the use of genetically related individuals for highly efficiently identifying both common and rare genetic variants underlying human complex diseases without increasing laboratory cost. © 2016 John Wiley & Sons Ltd/University College London.

  12. Genetic influences on exercise participation in 37,051 twin pairs from seven countries.

    Directory of Open Access Journals (Sweden)

    Janine H Stubbe

    Full Text Available BACKGROUND: A sedentary lifestyle remains a major threat to health in contemporary societies. To get more insight in the relative contribution of genetic and environmental influences on individual differences in exercise participation, twin samples from seven countries participating in the GenomEUtwin project were used. METHODOLOGY: Self-reported data on leisure time exercise behavior from Australia, Denmark, Finland, Norway, The Netherlands, Sweden and United Kingdom were used to create a comparable index of exercise participation in each country (60 minutes weekly at a minimum intensity of four metabolic equivalents. PRINCIPAL FINDINGS: Modest geographical variation in exercise participation was revealed in 85,198 subjects, aged 19-40 years. Modeling of monozygotic and dizygotic twin resemblance showed that genetic effects play an important role in explaining individual differences in exercise participation in each country. Shared environmental effects played no role except for Norwegian males. Heritability of exercise participation in males and females was similar and ranged from 48% to 71% (excluding Norwegian males. CONCLUSIONS: Genetic variation is important in individual exercise behavior and may involve genes influencing the acute mood effects of exercise, high exercise ability, high weight loss ability, and personality. This collaborative study suggests that attempts to find genes influencing exercise participation can pool exercise data across multiple countries and different instruments.

  13. Why Accurate Knowledge of Zygosity is Important to Twins.

    Science.gov (United States)

    Cutler, Tessa L; Murphy, Kate; Hopper, John L; Keogh, Louise A; Dai, Yun; Craig, Jeffrey M

    2015-06-01

    All same-sex dizygotic (DZ) twins and approximately one-third of monozygotic (MZ) twin pairs have separate placentas, making it impossible to use the number of placentas to determine zygosity. Zygosity determination is further complicated because incorrect assumptions are often made, such as that only DZ pairs have two placentas and that all MZ pairs are phenotypically identical. These assumptions, by twins, their families and health professionals, along with the lack of universal zygosity testing for same-sex twins, has led to confusion within the twin community, yet little research has been conducted with twins about their understanding and assumptions about zygosity. We aimed to explore and quantify understanding and assumptions about zygosity using twins attending an Australian twin festival. We recruited 91 twin pairs younger than 18 years of age and their parents, and 30 adult twin pairs who were all uncertain of their zygosity, to complete one pen and paper questionnaire and one online questionnaire about their assumed zygosity, reasons for their assumptions and the importance of accurate zygosity knowledge. Responses were compared with their true zygosity measured using a genetic test. We found a substantial proportion of parents and twins had been misinformed by their own parents or medical professionals, and that knowledge of their true zygosity status provided peace of mind and positive emotional responses. For these reasons we propose universal zygosity testing of same-sex twins as early in life as possible and an increase in education of medical professionals, twins and families of twins about zygosity issues.

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

    Science.gov (United States)

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

    2014-01-01

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

  15. Sleep Duration and Area-Level Deprivation in Twins.

    Science.gov (United States)

    Watson, Nathaniel F; Horn, Erin; Duncan, Glen E; Buchwald, Dedra; Vitiello, Michael V; Turkheimer, Eric

    2016-01-01

    We used quantitative genetic models to assess whether area-level deprivation as indicated by the Singh Index predicts shorter sleep duration and modifies its underlying genetic and environmental contributions. Participants were 4,218 adult twin pairs (2,377 monozygotic and 1,841 dizygotic) from the University of Washington Twin Registry. Participants self-reported habitual sleep duration. The Singh Index was determined by linking geocoding addresses to 17 indicators at the census-tract level using data from Census of Washington State and Census Tract Cartographic Boundary Files from 2000 and 2010. Data were analyzed using univariate and bivariate genetic decomposition and quantitative genetic interaction models that assessed A (additive genetics), C (common environment), and E (unique environment) main effects of the Singh Index on sleep duration and allowed the magnitude of residual ACE variance components in sleep duration to vary with the Index. The sample had a mean age of 38.2 y (standard deviation [SD] = 18), and was predominantly female (62%) and Caucasian (91%). Mean sleep duration was 7.38 h (SD = 1.20) and the mean Singh Index score was 0.00 (SD = 0.89). The heritability of sleep duration was 39% and the Singh Index was 12%. The uncontrolled phenotypic regression of sleep duration on the Singh Index showed a significant negative relationship between area-level deprivation and sleep length (b = -0.080, P sleep duration. For the quasi-causal bivariate model, there was a significant main effect of E (b(0E) = -0.063; standard error [SE] = 0.30; P sleep duration were significant for both A (b(0Au) = 0.734; SE = 0.020; P deprivation has a quasi-causal association with sleep duration, with greater deprivation being related to shorter sleep. As area-level deprivation increases, unique genetic and nonshared environmental residual variance in sleep duration increases. © 2016 Associated Professional Sleep Societies, LLC.

  16. Infertility, infertility treatment and twinning: the Danish National Birth Cohort

    DEFF Research Database (Denmark)

    Zhu, Jin Liang; Basso, Olga; Obel, Carsten

    2007-01-01

    BACKGROUND: We have previously observed that an increasing time to pregnancy (TTP) is associated with a reduced frequency of twin deliveries in couples not receiving infertility treatment. By using updated information, we assessed the frequencies of dizygotic (DZ) and monozygotic (MZ) twin...... deliveries as a function of infertility (TTP > 12 months), as well as infertility treatment. METHODS: From the Danish National Birth Cohort (1997-2003), we identified 51 730 fertile couples with TTP 12 months and 5163 infertile couples who conceived after treatment. Information on zygosity, available...... for part of the cohort (1997-2000), was based on standardized questions on the similarities between the twins at the age of 3-5 years. RESULTS: Compared with fertile couples, the frequency of DZ twin deliveries was lower for infertile couples conceiving naturally (odds ratio 0.4, 95% confidence interval 0...

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

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  18. Quality of life in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Bech, Per; Kyvik, Kirsten Ohm

    2006-01-01

    BACKGROUND: The disability and hardship associated with affective disorder is shared by the family members of affective patients and might affect the family member's quality of life. METHOD: In a cross-sectional, high-risk, case-control study, monozygotic (MZ) and dizygotic (DZ) twins with (High......-Risk twins) and without (the control group/Low-Risk twins) a co-twin history of affective disorder were identified through nationwide registers. The aim of the present study was to investigate the hypothesis that a genetic liability to affective disorder is associated with a lower perception of quality...... for the effect of subclinical anxiety and depressive symptoms, the differences were significant on the domain environment and total WHOQoL-BREF and marginally significant on the domain physical health and overall quality of life. LIMITATIONS: It is not possible from the cross-sectional analyses to distinguish...

  19. Imaging of conjoined twins

    Energy Technology Data Exchange (ETDEWEB)

    McHugh, Kieran [Great Ormond Street Hospital for Children, Department of Radiology, London (United Kingdom); Kiely, Edward M.; Spitz, Lewis [Great Ormond Street Hospital for Children, Department of Surgery, London (United Kingdom)

    2006-09-15

    The incidence of conjoined twins is estimated to be around 1 in 250,000 live births. There is a distinct female predominance. In this paper the imaging of conjoined twins both antenatally and postnatally is reviewed, in particular taking into consideration recent advances with multidetector CT. Accurate counselling of parents regarding the likely outcome of the pregnancy and the likelihood of successful separation is dependent on good prenatal imaging with ultrasound and MRI. Planning of postnatal surgical separation is aided by accurate preoperative imaging which, depending on the conjoined area, will encompass many imaging modalities, but often relies heavily on CT scanning. (orig.)

  20. Twin pregnancy

    DEFF Research Database (Denmark)

    Sperling, Lene; Tabor, A

    2001-01-01

    Determination of chorionicity is one of the most important issues in the management of twin pregnancy. Modern ultrasound equipment has made it possible to accurately assess placentation already in the first trimester with the lambda sign. With regard to prenatal diagnosis, it is important to know...... for clinicians caring for twin pregnancies....

  1. Total and regional fat distribution is strongly influenced by genetic factors in young and elderly twins

    DEFF Research Database (Denmark)

    Malis, Charlotte; Rasmussen, Eva L; Poulsen, Pernille

    2005-01-01

    OBJECTIVE: Indirect estimates of obesity such as BMI seem to be strongly influenced by genetic factors in twins. Precise measurements of total and regional fat as determined by direct techniques such as DXA scan have only been applied in a few twin studies. The aim of the present study was to est......OBJECTIVE: Indirect estimates of obesity such as BMI seem to be strongly influenced by genetic factors in twins. Precise measurements of total and regional fat as determined by direct techniques such as DXA scan have only been applied in a few twin studies. The aim of the present study...... was to estimate the heritability (h(2)) of total and regional fat distribution in young and elderly Danish twins. RESEARCH METHODS AND PROCEDURES: Monozygotic (108) and dizygotic (88) twins in two age groups (25 to 32 and 58 to 66 years) underwent anthropometric measurements and DXA scans. Intraclass correlations...... and etiologic components of variance were estimated for total and regional fat percentages using biometric modeling. RESULTS: The intraclass correlations demonstrated higher correlations for all fat percentages among monozygotic twins as compared with dizygotic twins. The biometric modeling revealed a major...

  2. Desafios e tecnologia na psicoterapia cognitiva do TDAH na infância: seguimento de um ano de caso de gêmeos monozigóticos Challenges and technology in the cognitive psychotherapy of childhood ADHD: one-year follow-up of monozygotic twins

    Directory of Open Access Journals (Sweden)

    Rodrigo Grassi de Oliveira

    2003-01-01

    Full Text Available A escolha do caso deve-se a quatro principais motivos: (1 a alta complexidade do caso dificulta o diagnóstico, a abordagem psicofarmacológica e psicoterápica; (2 as dificuldades logísticas comuns aos profissionais e pacientes do Sistema Único de Saúde (SUS, como dificuldades econômicas e assistenciais, que dificultam o tratamento; (3 a importância da combinação tecnológica de diferentes modelos de terapias cognitivas na abordagem do TDAH, fundamental para alguns casos; (4 e a importância da viabilização proporcionada pelo Programa de Residência quando permite a busca por auxílio externo, em termos de supervisão, o que potencializa a capacitação do residente.The authors describe the follow-up of monozigotic twins treated with cognitive therapy for attention deficit hyperactivity disorder.

  3. Are There Common Familial Influences for Major Depressive Disorder and an Overeating-Binge Eating Dimension in both European-American and African-American Female Twins?

    Science.gov (United States)

    Munn-Chernoff, Melissa A.; Grant, Julia D.; Agrawal, Arpana; Koren, Rachel; Glowinski, Anne L.; Bucholz, Kathleen K.; Madden, Pamela A. F.; Heath, Andrew C.; Duncan, Alexis E.

    2014-01-01

    Objective Although prior studies have demonstrated that depression is associated with an overeating-binge eating dimension (OE-BE), phenotypically, little research has investigated whether familial factors contribute to the co-occurrence of these phenotypes, especially in community samples with multiple racial/ethnic groups. We examined the extent to which familial (i.e., genetic and shared environmental) influences overlapped between Major Depressive Disorder (MDD) and OE-BE in a population-based sample and whether these influences were similar across racial/ethnic groups Method Participants included 3226 European-American (EA) and 550 African-American (AA) young adult women from the Missouri Adolescent Female Twin Study. An adaptation of the Semi-Structured Assessment for the Genetics of Alcoholism (SSAGA) was administered to assess lifetime DSM-IV MDD and OE-BE. Quantitative genetic modeling was used to estimate familial influences between both phenotypes; all models controlled for age. Results The best-fitting model, which combined racial/ethnic groups, found that additive genetic influences accounted for 44% (95% CI: 34%, 53%) of the MDD variance and 40% (25%, 54%) for OE-BE, with the remaining variances due to non-shared environmental influences. Genetic overlap was substantial (rg = .61 [.39, .85]); non-shared environmental influences on MDD and OE-BE overlapped weakly (re = .26 [.09, .42]) Discussion Results suggest that common familial influences underlie MDD and OE-BE, and the magnitude of familial influences contributing to the comorbidity between MDD and OE-BE is similar between EA and AA women. If racial/ethnic differences truly exist, then larger sample sizes may be needed to fully elucidate familial risk for comorbid MDD and OE-BE across these groups. PMID:24659561

  4. Risk factors for asthma in young adults: a co-twin control study

    DEFF Research Database (Denmark)

    Thomsen, S F; Ulrik, C S; Kyvik, K O;

    2006-01-01

    BACKGROUND: The liability to asthma is influenced both by genetic and environmental factors. The objective of this study was to identify risk factors for asthma in young adult twin pairs during an 8-year period. METHODS: From the birth cohorts 1953-1982 of the Danish Twin Registry, 6,090 twin pairs...... who were initially unaffected with respect to asthma at a nationwide questionnaire-based study in 1994 participated in a similar follow-up study in 2002. Subjects were regarded incident asthma cases when responding affirmatively to the question 'Do you have, or have you ever had asthma'? in 2002....... Pairs in which only one twin developed asthma -- discordant pairs -- were identified and conditional logistic regression was applied to detect effects of risk factors. RESULTS: A total of 126 monozygotic (MZ) and 273 dizygotic (DZ) discordant twin pairs were identified. In MZ twins hay fever (OR = 3...

  5. A Danish population-based twin study on autism spectrum disorders

    DEFF Research Database (Denmark)

    Nordenbaek, Claudia; Jorgensen, Meta; Kyvik, Kirsten Ohm

    2014-01-01

    Genetic epidemiological studies of Autism Spectrum Disorders (ASDs) based on twin pairs ascertained from the population and thoroughly assessed to obtain a high degree of diagnostic validity are few. All twin pairs aged 3-14 years in the nationwide Danish Twin Registry were approached. A three...... based on 36 pairs. The probandwise concordance rate for ASD was 95.2 % in monozygotic (MZ) twins (n = 13 pairs) and 4.3 % in dizygotic (DZ) twins (n = 23 pairs). The high MZ and low DZ concordance rate support a genetic aetiology to ASDs....... standard" diagnostic research procedures including diagnostic interview, observation and cognitive examination. Classification was based on DSM-IV-TR criteria. The initial sample included 7,296 same-sexed twin pairs and, after two phases of screening and clinical assessment, the final calculations were...

  6. Emergency separation of a xipho-omphalopagus twin in a developing country

    Directory of Open Access Journals (Sweden)

    Shukla R

    2010-01-01

    Full Text Available Female conjoined twins (thoraco-omphalopagus were delivered by emergency caesarean section in a private nursing home. On examination, one of the twins was dead and was threatening the survival of the surviving twin (twin A. An emergency separation was performed to salvage the surviving twin.

  7. Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation.

    Science.gov (United States)

    Rijntjes-Jacobs, Esther G J; Lopriore, Enrico; Steggerda, Sylke J; Kant, Sarina G; Walther, Frans J

    2010-11-01

    The Schimmelpenning-Feuerstein-Mims (SFM) syndrome comprises a craniofacial nevus sebaceus, seizures, developmental delay, ocular and skeletal abnormalities. It is a sporadic condition and hypothesized to result from mosaicism involving a lethal autosomal dominant gene. We report a second occurrence of discordant monozygotic (MZ) twins with severe SFM, supporting the concept of a postzygotic mutation. © 2010 Wiley-Liss, Inc.

  8. A prospective study of twinning and perinatal mortality in urban Guinea-Bissau

    Directory of Open Access Journals (Sweden)

    Bjerregaard-Andersen Morten

    2012-12-01

    Full Text Available Abstract Background Despite twinning being common in Africa, few prospective twin studies have been conducted. We studied twinning rate, perinatal mortality and the clinical characteristics of newborn twins in urban Guinea-Bissau. Methods The study was conducted at the Bandim Health Project (BHP, a health and demographic surveillance site in Bissau, the capital of Guinea-Bissau. The cohort included all newborn twins delivered at the National Hospital Simão Mendes and in the BHP study area during the period September 2009 to August 2011 as well as singleton controls from the BHP study area. Data regarding obstetric history and pregnancy were collected at the hospital. Live children were examined clinically. For a subset of twin pairs zygosity was established by using genetic markers. Results Out of the 5262 births from mothers included in the BHP study area, 94 were twin births, i.e. a community twinning rate of 18/1000. The monozygotic rate was 3.4/1000. Perinatal mortality among twins vs. singletons was 218/1000 vs. 80/1000 (RR = 2.71, 95% CI: 1.93-3.80. Among the 13783 hospital births 388 were twin births (28/1000. The hospital perinatal twin mortality was 237/1000. Birth weight  Conclusions Twins had a very high perinatal mortality, three-fold higher than singletons. A birth weight 

  9. DNA methylation changes at infertility genes in newborn twins conceived by in vitro fertilisation.

    Science.gov (United States)

    Castillo-Fernandez, Juan E; Loke, Yuk Jing; Bass-Stringer, Sebastian; Gao, Fei; Xia, Yudong; Wu, Honglong; Lu, Hanlin; Liu, Yuan; Wang, Jun; Spector, Tim D; Saffery, Richard; Craig, Jeffrey M; Bell, Jordana T

    2017-03-24

    The association of in vitro fertilisation (IVF) and DNA methylation has been studied predominantly at regulatory regions of imprinted genes and at just thousands of the ~28 million CpG sites in the human genome. We investigated the links between IVF and DNA methylation patterns in whole cord blood cells (n = 98) and cord blood mononuclear cells (n = 82) from newborn twins using genome-wide methylated DNA immunoprecipitation coupled with deep sequencing. At a false discovery rate (FDR) of 5%, we identified one significant whole blood DNA methylation change linked to conception via IVF, which was located ~3 kb upstream of TNP1, a gene previously linked to male infertility. The 46 most strongly associated signals (FDR of 25%) included a second region in a gene also previously linked to infertility, C9orf3, suggesting that our findings may in part capture the effect of parental subfertility. Using twin modelling, we observed that individual-specific environmental factors appear to be the main overall contributors of methylation variability at the FDR 25% IVF-associated differentially methylated regions, although evidence for methylation heritability was also obtained at several of these regions. We replicated previous findings of differential methylation associated with IVF at the H19/IGF2 region in cord blood mononuclear cells, and we validated the signal at C9orf3 in monozygotic twins. We also explored the impact of intracytoplasmic sperm injection on the FDR 25% signals for potential effects specific to male or female infertility factors. To our knowledge, this is the most comprehensive study of DNA methylation profiles at birth and IVF conception to date, and our results show evidence for epigenetic modifications that may in part reflect parental subfertility.

  10. Asthma discordance in twins is linked to epigenetic modifications of T cells.

    Directory of Open Access Journals (Sweden)

    R Scott Runyon

    Full Text Available T cells mediate the inflammatory responses observed in asthma among genetically susceptible individuals and have been suspected to be prone to epigenetic regulation. However, these relationships are not well established from past clinical studies that have had limited capacity to control for the effects of variable genetic predisposition and early environmental exposures. Relying on a cohort of monozygotic twins discordant for asthma we sought to determine if epigenetic modifications in T cells were associated with current asthma and explored whether such modifications were associated with second hand smoke exposures. Our study was conducted in a monozygotic twin cohort of adult twin pairs (n = 21 all discordant for asthma. Regulatory T cell (Treg and effector T cell (Teff subsets were assessed for levels of cellular function, protein expression, gene expression and CpG methylation within Forkhead box P3 (FOXP3 and interferon gamma-γ (IFNγ loci. Comparisons by asthma and current report of exposure to second hand smoke were made. Treg from asthmatic discordant twins demonstrated decreased FOXP3 protein expression and impaired Treg function that was associated with increased levels of CpG methylation within the FOXP3 locus when compared to their non-asthmatic twin partner. In parallel, Teff from discordant asthmatic twins demonstrated increased methylation of the IFNγ locus, decreased IFNγ expression and reduced Teff function when compared to Teff from the non-asthmatic twin. Finally, report of current exposure to second hand smoke was associated with modifications in both Treg and Teff at the transcriptional level among asthmatics. The results of the current study provide evidence for differential function of T cell subsets in monozygotic twins discordant for asthma that are regulated by changes in DNA methylation. Our preliminary data suggest exposure to second hand smoke may augment the modified T cell responses associated with asthma.

  11. DNA stability and schizophrenia in twins.

    Science.gov (United States)

    Nguyen, Giang H; Bouchard, Joseph; Boselli, Monica G; Tolstoi, Linda G; Keith, Louis; Baldwin, Clinton; Nguyen, Nam C; Schultz, Mark; Herrera, Victoria L M; Smith, Cassandra L

    2003-07-01

    The goal of these experiments was to understand DNA changes relevant to schizophrenia. This work compared DNA of monozygotic (MZ) twins surrounding (CAG)(n) repeating sequences, and characterized the relationship between fragile sites and schizophrenia. Twelve twin-pairs, previously classified as MZ and 18 unrelated sib-pairs, from seven families were studied. Eight twin-pairs were affected by schizophrenia, four concordantly and four discordantly. DNA comparisons were made using profiles of electrophoretic size fractionations of PCR amplified (CAG)(n) containing genomic fragments. These profiles were generated by a new method, developed by us, called targeted genomic differential display (TGDD). Surprisingly, the number of peak profile differences in MZ twin-pairs discordant for schizophrenia was greater than the concordantly ill twins and the well twins and, in some cases, overlapped the range of sib-pairs. These results might mean that some twins were not MZ but it was not possible to definitively test these samples for zygosity. Alternatively, the results might be explained as an increased mutation rate (or genomic instability) around (CAG)(n) sites in individuals afflicted with schizophrenia. Also, we uncovered an association of schizophrenia (i.e., a linkage of chromosomal abnormalities and gene localizations) with fragile sites spread throughout the genome (chi(2), P = 0.001). Furthermore, it appears that an increasing number of genes linked to schizophrenia are associated with (CAG)(n) sequences. Fragile sites and (CAG)(n) repeat sequences are known to be unstable. We speculate the association of genomic instability with schizophrenia accounts for seemingly disparate biological and environmental factors that influence disease occurrence. Copyright 2003 Wiley-Liss, Inc.

  12. Physical activity, fitness, glucose homeostasis, and brain morphology in twins.

    Science.gov (United States)

    Rottensteiner, Mirva; Leskinen, Tuija; Niskanen, Eini; Aaltonen, Sari; Mutikainen, Sara; Wikgren, Jan; Heikkilä, Kauko; Kovanen, Vuokko; Kainulainen, Heikki; Kaprio, Jaakko; Tarkka, Ina M; Kujala, Urho M

    2015-03-01

    The main aim of the present study (FITFATTWIN) was to investigate how physical activity level is associated with body composition, glucose homeostasis, and brain morphology in young adult male monozygotic twin pairs discordant for physical activity. From a population-based twin cohort, we systematically selected 10 young adult male monozygotic twin pairs (age range, 32-36 yr) discordant for leisure time physical activity during the past 3 yr. On the basis of interviews, we calculated a mean sum index for leisure time and commuting activity during the past 3 yr (3-yr LTMET index expressed as MET-hours per day). We conducted extensive measurements on body composition (including fat percentage measured by dual-energy x-ray absorptiometry), glucose homeostasis including homeostatic model assessment index and insulin sensitivity index (Matsuda index, calculated from glucose and insulin values from an oral glucose tolerance test), and whole brain magnetic resonance imaging for regional volumetric analyses. According to pairwise analysis, the active twins had lower body fat percentage (P = 0.029) and homeostatic model assessment index (P = 0.031) and higher Matsuda index (P = 0.021) compared with their inactive co-twins. Striatal and prefrontal cortex (subgyral and inferior frontal gyrus) brain gray matter volumes were larger in the nondominant hemisphere in active twins compared with those in inactive co-twins, with a statistical threshold of P physical activity is associated with improved glucose homeostasis and modulation of striatum and prefrontal cortex gray matter volume, independent of genetic background. The findings may contribute to later reduced risk of type 2 diabetes and mobility limitations.

  13. Do assisted-reproduction twin pregnancies require additional antenatal care?

    Science.gov (United States)

    Jauniaux, E; Ben-Ami, I; Maymon, R

    2013-02-01

    Iatrogenic twinning has become the main side-effect assisted reproduction treatment. We have evaluated the evidence for additional care that assisted-reproduction twins may require compared with spontaneous twins. Misacarriages are increased in women with tubal problems and after specific treatments. Assisted-reproduction twin pregnancies complicated by a vanishing twin after 8 weeks have an increased risk of preterm delivery and of low and very low birthweight compared with singleton assisted-reproduction pregnancies. Monozygotic twin pregnancies occur at a higher rate after assisted reproduction treatment and are associated with a higher risk of perinatal complications. The incidence of placenta praevia and vasa praevia is increased in assisted-reproduction twin pregnancies. Large cohort studies do not indicate a higher rate of fetal congenital malformations in assisted-reproduction twins. Overall, assisted-reproduction twins in healthy women assisted-reproduction twins is only increased in women with a pre-existing medical condition such as hypertensive disorders and diabetes and most of these risks can be avoided with single-embryo transfer. Following the birth of the first IVF baby, rumours started to spread in both the medical literature and the media about the long-term health effects for children born following assisted reproduction treatment. However, after more than 30 years, the most common complications associated with IVF treatment remain indirect and technical such as the failure of treatment and ovarian hyperstimulation. Iatrogenic twinning has become the main side-effect of assisted reproduction treatment and the increasing number of twin pregnancies, in particular in older women, has generated numerous debates on the need for additional healthcare provision. In this review, we have evaluated the evidence for additional care that assisted-conception twin pregnancies may require compared with spontaneous twin pregnancies. Twin pregnancies are

  14. Co-twin study of the effect of environment and dietary elements on acquisition of Helicobacter pylori infection.

    Science.gov (United States)

    Malaty, H M; Graham, D Y; Isaksson, I; Engstrand, L; Pedersen, N L

    1998-10-15

    The rate of Helicobacter pylori infection is inversely related to socioeconomic status, and childhood is thought to be the major acquisition period. The authors investigated the importance of childhood environment in the acquisition of H. pylori infection. A cross-sectional study was conducted of monozygotic and dizygotic twins who were reared apart or reared together. Three hundred twins from a subregistry of the Swedish Twin Registry were studied. H. pylori status was evaluated by using an enzyme-linked immunosorbent assay for anti-H. pylori immunoglobulin G. Socioeconomic status during childhood was assessed on the basis of the density of the living conditions and the economic situation of the family that reared the twins. Current socioeconomic status was estimated by using a scale that combined income and education. Dietary elements that were studied included fat and fiber intake and ascorbic acid consumption. The density of the childhood home was consistently found to be significantly associated with the acquisition of H. pylori infection (p = 0.04). Among monozygotic twins reared apart and discordant for H. pylori status, affected twins were raised in homes under poorer socioeconomic conditions than those of their unaffected co-twins (p = 0.02). Additionally, infected twins consumed more ascorbic acid than their unaffected co-twins (p = 0.04). The finding of an effect of socioeconomic status during childhood on the acquisition of H. pylori among monozygotic twins who were reared apart and had an identical genetic makeup but not a common environment confirms the hypothesis that childhood acquisition of H. pylori infection is linked to hygiene practices.

  15. A prospective study of twinning and perinatal mortality in urban Guinea-Bissau

    Science.gov (United States)

    2012-01-01

    Background Despite twinning being common in Africa, few prospective twin studies have been conducted. We studied twinning rate, perinatal mortality and the clinical characteristics of newborn twins in urban Guinea-Bissau. Methods The study was conducted at the Bandim Health Project (BHP), a health and demographic surveillance site in Bissau, the capital of Guinea-Bissau. The cohort included all newborn twins delivered at the National Hospital Simão Mendes and in the BHP study area during the period September 2009 to August 2011 as well as singleton controls from the BHP study area. Data regarding obstetric history and pregnancy were collected at the hospital. Live children were examined clinically. For a subset of twin pairs zygosity was established by using genetic markers. Results Out of the 5262 births from mothers included in the BHP study area, 94 were twin births, i.e. a community twinning rate of 18/1000. The monozygotic rate was 3.4/1000. Perinatal mortality among twins vs. singletons was 218/1000 vs. 80/1000 (RR = 2.71, 95% CI: 1.93-3.80). Among the 13783 hospital births 388 were twin births (28/1000). The hospital perinatal twin mortality was 237/1000. Birth weight twin mortality. Male sex (RR = 1.38, CI: 0.97-1.96), unawareness of twin pregnancy (RR = 1.64, CI: 0.97-2.78) and high blood pressure during pregnancy (RR = 1.77, CI: 0.88-3.57) were borderline non-significant. Sixty-five percent (245/375) of the mothers who delivered at the hospital were unaware of their twin pregnancy. Conclusions Twins had a very high perinatal mortality, three-fold higher than singletons. A birth weight twin pregnancy was common. Urgent interventions are needed to lower perinatal twin mortality in Guinea-Bissau. PMID:23216795

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

    Science.gov (United States)

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

    2012-09-01

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

  17. Lav fødselsvaegt er associeret med ikke-insulinkraevende diabetes mellitus hos diskordante monozygote og dizygote tvillingepar

    DEFF Research Database (Denmark)

    Poulsen, P; Vaag, Allan; Kyvik, K O;

    1998-01-01

    Previous studies have demonstrated an association between low weight at birth and risk of later development of non-insulin dependent diabetes mellitus (NIDDM). It is unknown whether this association may be due to an impact of intrauterine malnutrition per se, or whether it may be due to a coincid......Previous studies have demonstrated an association between low weight at birth and risk of later development of non-insulin dependent diabetes mellitus (NIDDM). It is unknown whether this association may be due to an impact of intrauterine malnutrition per se, or whether it may be due...... to a coincidence between the putative "NIDDM susceptibility genotype" and a genetically determined low weight at birth. We traced original midwife birthweight record determinations in a group of monozygotic (n = 14 pairs) and dizygotic (n = 14 pairs) twins who phenotypically appeared discordant for NIDDM at a mean...... age of 67 and 64 years respectively. Birthweights were lower in the NIDDM twins compared with both their identical and non-identical non-diabetic co-twins respectively (p

  18. Role of genetic and environmental factors in British twins with inflammatory bowel disease.

    Science.gov (United States)

    Ng, Siew C; Woodrow, Susannah; Patel, Nisha; Subhani, Javaid; Harbord, Marcus

    2012-04-01

    Twin studies provide insight into the complex interaction between genetic and environmental factors in the development of inflammatory bowel disease (IBD). We assessed associations between childhood environmental factors and development of Crohn's disease (CD) and ulcerative colitis (UC) in twins. Questionnaires on clinical demographics and exposure to environmental factors were sent to twins with IBD, their healthy co-twins, and their doctors. Kappa statistics were used to examine agreement between twin pairs and odds ratios were calculated by conditional logistic regression. In all, 250 IBD twin pairs (122 CD; 125 UC; 3 CD/UC; 28 concordant pairs) were analyzed. Concordant monozygotic twins with CD showed good agreement for disease location (κ 0.88; 95% confidence interval [CI]: 0.45-1.00), disease behavior (κ 1.00; 95% CI: 0.43-1.00), and moderate agreement for age at diagnosis and need for medical and surgical therapy. Concordant monozygotic twins with UC showed good agreement for disease extent (κ 0.60; CI 0.13-1.00) and use of thiopurines (κ 0.73; CI 0.10-1.00). In discordant twins, symptomatic childhood mumps infection (odds ratio [OR], 3.8; 95% CI, 1.2-11.3) and oral contraceptives (OR, 4.0; 1.1-14.2) were associated with CD. Smoking was associated with CD (OR, 4.3; 95% CI, 1.9-9.8) but inversely associated with UC (OR, 0.3; 95% CI, 0.1-0.9). Both CD and UC twins had suffered more "gastroenteritis" and spent more time with animals than their co-twins. Disease phenotype in CD and disease extent in UC appeared to be genetically influenced. Smoking is a risk factor for CD but is protective for UC. Early exposure to "infections" during childhood may be associated with the development of IBD. Copyright © 2011 Crohn's & Colitis Foundation of America, Inc.

  19. Heredity of cognitive functions and personality in twins.

    Science.gov (United States)

    Kalasūnienė, Loreta; Goštautas, Antanas; Sinkus, Algimantas

    2013-01-01

    The inheritance of cognitive functions and personality is still a problem under investigation. A classical method, investigation of twins, is often used to find relative contributions from genetics and the environment to quantitative traits. The aim of this study was to investigate a possible influence of heredity on cognitive functions (by applying the Raven test) and personality traits (according to the Eysenck's theory) in twins. In total, 139 pairs of same-sex twins were investigated. The zygosity of the twin pairs was confirmed through genotyping with 15 molecular DNA markers. Constructive thinking was assessed using the Raven test. Personality assessment was conducted using the Eysenck Personality Questionnaire (EPQ) in Lithuanian. The difference in the total number of incorrect solutions between monozygotic (MZ) and dizygotic (DZ) twin pairs younger than 15 years was not significant; however, in the group older than 15 years, this difference was found to be significant. Based on the total number of incorrect solutions, the concordance in the MZ twins was greater than in the DZ twins. The same tendency was found with cumulative EPQ scores on the extraversion scale. The results imply that the quality of cognitive functions and personality traits (extraversion) can be influenced by heredity. This confirms previous findings on the heritability of cognitive factors and personality traits.

  20. Arterio-venous flow between monochorionic twins determined during intra-uterine transfusion

    Energy Technology Data Exchange (ETDEWEB)

    Gemert, Martin J C van; Wijngaard, Jeroen P H M van den [Laser Centre and Department of Obstetrics, Laser Center, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam (Netherlands); Lopriore, Enrico [Division of Neonatology, Department of Pediatrics, Leiden University Medical Centre, Leiden (Netherlands); Pasman, Suzanne A; Vandenbussche, Frank P H A [Division of Fetal Medicine, Department of Obstetrics, Leiden University Medical Centre, Leiden (Netherlands)], E-mail: m.j.vangemert@amc.uva.nl

    2008-04-07

    Twin-twin transfusion syndrome (TTTS) is a severe complication of monozygotic (identical) twin fetuses sharing one single (monochorionic) placenta. TTTS is caused by a net inter-twin transfusion of blood through placental anastomoses, from one twin (the donor) to the other (the recipient), which link the two feto-placental circulations. Currently, the only reliable method to measure the net inter-twin transfusion clinically is when incomplete laser therapy of TTTS occurs and one of the twins becomes anemic and requires an intra-uterine transfusion of adult red blood cells. Then, differences between adult hemoglobin concentrations measured during the transfusion and at birth relate not only to the net inter-twin transfusion but also to the finite lifetime of the adult red blood cells. We have analyzed this situation, derived the differential equations of adult hemoglobin in the donor and recipient twins, given the solutions and given expressions relating the net inter-twin flow with clinically measured parameters. We have included single and multiple intra-uterine transfusions. In conclusion, because incomplete laser therapy occurs frequently, and some cases require an intra-uterine transfusion, this method may allow collecting a wealth of net inter-twin flow data from clinicians involved in laser therapy of TTTS. To aid to the widespread use of this method, we have presented the equations as clearly as possible in tables for easy use by others. (note)

  1. NOTE: Arterio-venous flow between monochorionic twins determined during intra-uterine transfusion

    Science.gov (United States)

    van Gemert, Martin J. C.; van den Wijngaard, Jeroen P. H. M.; Lopriore, Enrico; Pasman, Suzanne A.; Vandenbussche, Frank P. H. A.

    2008-04-01

    Twin-twin transfusion syndrome (TTTS) is a severe complication of monozygotic (identical) twin fetuses sharing one single (monochorionic) placenta. TTTS is caused by a net inter-twin transfusion of blood through placental anastomoses, from one twin (the donor) to the other (the recipient), which link the two feto-placental circulations. Currently, the only reliable method to measure the net inter-twin transfusion clinically is when incomplete laser therapy of TTTS occurs and one of the twins becomes anemic and requires an intra-uterine transfusion of adult red blood cells. Then, differences between adult hemoglobin concentrations measured during the transfusion and at birth relate not only to the net inter-twin transfusion but also to the finite lifetime of the adult red blood cells. We have analyzed this situation, derived the differential equations of adult hemoglobin in the donor and recipient twins, given the solutions and given expressions relating the net inter-twin flow with clinically measured parameters. We have included single and multiple intra-uterine transfusions. In conclusion, because incomplete laser therapy occurs frequently, and some cases require an intra-uterine transfusion, this method may allow collecting a wealth of net inter-twin flow data from clinicians involved in laser therapy of TTTS. To aid to the widespread use of this method, we have presented the equations as clearly as possible in tables for easy use by others.

  2. Epigenetic signature of birth weight discordance in adult twins

    DEFF Research Database (Denmark)

    Tan, Qihua; Nielsen, Morten Frost Munk; Heijmans, Bastiaan T

    2014-01-01

    Background: A low birth weight has been extensively related to poor adult health outcomes. Birth weight can be seen as a proxy for environmental conditions during prenatal development. Identical twin pairs discordant for birth weight provide an extraordinary model for investigating the association...... between birth weight and adult life health while controlling for not only genetics but also postnatal rearing environment. We performed an epigenome-wide profiling on blood samples from 150 pairs of adult monozygotic twins discordant for birth weight to look for molecular evidence of epigenetic signatures...... in association with birth weight discordance. Results: Our association analysis revealed no CpG site with genome-wide statistical significance (FDR twin...

  3. Twin Baryogenesis

    CERN Document Server

    Farina, Marco; Shin, Chang Sub

    2016-01-01

    In the context of Twin Higgs models, we study a simple mechanism that simultaneously generates asymmetries in the dark and visible sector through the out-of-equilibrium decay of a TeV scale particle charged under a combination of baryon and twin baryon number. We predict the dark matter to be a 5 GeV twin baryon, which is easy to achieve because of the similarity between the two confinement scales. Dark matter is metastable and can decay to three quarks, yielding indirect detection signatures. The mechanism requires the introduction of a new colored particle, typically within the reach of the LHC, of which we study the rich collider phenomenology, including prompt and displaced dijets, multi-jets, monojets and monotops.

  4. Subclinical psychopathology and socio-economic status in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg Christensen, Maj; Kyvik, Kirsten Ohm; Vedel Kessing, Lars

    2006-01-01

    to affective disorder seem to present lower socio-economic status, higher rates of subclinical affective symptoms and more often experience a minor psychiatric diagnosis than twins with no familial history of affective disorder. It is not possible from the present cross-sectional data to determine......BACKGROUND: The most potent risk factor for affective disorders is a family history of affective disorder but the specific factors that are transmitted in families are unknown. It is possible to investigate the relation between risk factors and affective disorder by using a high-risk design e.......g.: a study of the healthy relatives of patients with affective disorders. AIM: To compare psychopathology and socio-economic status between twins with a co-twin history of affective disorder and twins without. METHODS: In a cross-sectional high-risk case-control study, healthy monozygotic and dizygotic twins...

  5. Heritability of neck pain: a population-based study of 33,794 Danish twins

    DEFF Research Database (Denmark)

    Fejer, R; Hartvigsen, J; Kyvik, K O

    2006-01-01

    OBJECTIVES: To determine the heritability of neck pain in a large population-based study of twins. METHODS: Data on lifetime prevalence of neck pain from a population-based cross-sectional survey of Danish twins were used. To assess twin similarity, the probandwise concordance rates, zygosity......-specific odds ratios and tetrachoric correlations were calculated and compared for monozygotic and dizygotic twins. Using biometric modelling (structural equation modelling), the genetic and environmental contributions of the liability to neck pain were estimated. RESULTS: A total of 33,794 twins (response rate...... 73%) answered the questions regarding neck pain. Probandwise concordance rates, zygosity-specific odds ratios and tetrachoric correlations showed a significant genetic effect on neck pain. An overall additive genetic component of 44% was found. The genetic effect decreased with age, accounting...

  6. Aggregation of thyroid autoantibodies in twins from opposite-sex pairs suggests that microchimerism may play a role in the early stages of thyroid autoimmunity

    DEFF Research Database (Denmark)

    Brix, Thomas Heiberg; Hansen, Pia Skov; Kyvik, Kirsten Ohm

    2009-01-01

    CONTEXT: Microchimerism is the presence of small populations of cells from one individual in another genetically distinct individual. This phenomenon can arise from pregnancy, blood transfusion, or bidirectional cell trafficking between twins in utero. Microchimerism has recently been proposed...... to play a role in the pathogenesis of thyroid autoimmunity. In that case, twins from opposite-sex pairs (OS) should have an increased risk of thyroid autoantibodies (TA). AIM: The aim of the study was to compare the frequency of TA in twin individuals from OS and monozygotic (MZ) twin pairs. Design...

  7. [Mono- and dizygotic twins in forensic paternity testing in practice at the Department of Forensic Medicine (Silesian Academy of Medicine, Katowice) in the years 1996-2003].

    Science.gov (United States)

    Raczek, Ewa

    2004-01-01

    Giving an opinion on disputable paternity, concerning monozygotic twins in practice at the Department of Forensic Medicine (Silesian Academy of Medicine, Katowice) demonstrated their ideal agreement according to examined genetic markers possible. Even the mutation, which was revealed using the RFLP-VNTR method was the same for both twin sisters. In the case of dizygotic twins a firm differentiation of paternity index and probability of paternity was proved. This was the consequence of independent features segregation in first, reductive meiotic division. While the rare, out-ladder allele 16 at the CSF1PO locus was transmitted to both twins: a daughter and a son by the putative father.

  8. Genetic influences on Chronic Obstructive Pulmonary Disease - a twin study.

    Science.gov (United States)

    Ingebrigtsen, Truls; Thomsen, Simon F; Vestbo, Jørgen; van der Sluis, Sophie; Kyvik, Kirsten O; Silverman, Edwin K; Svartengren, Magnus; Backer, Vibeke

    2010-12-01

    Genes that contribute to the risk of developing Chronic Obstructive Pulmonary Disease (COPD) have been identified, but an attempt to accurately quantify the total genetic contribution to COPD has to our knowledge never been conducted. Hospital discharge diagnoses data on COPD were analysed in 22,422 Danish twin pairs, 20-71 years of age. The analyses were replicated in a population of 27,668 Swedish twin pairs, 45-108 years of age. A Cox-regression model was applied to the discordant time from the age at first hospital admission for COPD in the co-twin of an affected twin. Latent factor models were used to estimate genetic and environmental effects. The probandwise concordance rate for COPD was higher in monozygotic (MZ) than in dizygotic (DZ) twins, 0.19 vs. 0.07 (p = 0.08) in the Danish population, and 0.20 vs. 0.08 (p = 0.006) in the Swedish population. After adjusting for sex, smoking and age at first hospital admission the risk of developing COPD in the co-twin of an affected twin was higher in MZ than in DZ twins, with hazards ratio 4.3 (95% confidence interval 1.2-15.8, p = 0.03) in Danish twins and 3.4 (1.5-7.7, p = 0.004) in Swedish twins. According to the most parsimonious model, additive genetic factors explained 63% (46-77%) of the individual COPD-susceptibility in the Danish population and 61% (48-72%) in the Swedish population. The susceptibility to develop severe COPD, as defined by hospitalizations, is strongly influenced by genetic factors. Approximately 60% of the individual susceptibility can be explained by genetic factors. Copyright © 2010 Elsevier Ltd. All rights reserved.

  9. Twin birth order, birthweight and birthweight discordance: any relationship

    Directory of Open Access Journals (Sweden)

    Onyiriuka A.N.

    2010-12-01

    Full Text Available Background: It is widely believed that in twin pairs, at birth, the first-born weigh more than the second-born but this concept has been challenged. Objective: To assess the truthfulness of this common concept that first-born twins are usually heavier than their second-born siblings at birth. Methods: In a series of 104 sets of live-born twins, the birth weights of first-born twins were compared with those of their second-born siblings, after controlling for gender. Their intra-pair birthweight differences were determined and twin pairs whose birthweight difference was 15% or more were designated as discordant. Results: Twin I was heavier than Twin II in 61.5% of cases while Twin II was heavier than Twin I in 28.9% of cases. Twins I and II had equal birthweights in 9.6% of cases. Comparing the mean birthweight of the first-born-male twin with that of second-born- male twin, it was 2515+427g (95% Confidence Interval, CI=2402-2628 versus 2432 +435g (95% CI=2321-2543 p>0.05. The mean birthweight of first-born-female twin was 2326+445g (95% CI=2214-2439 while that of the second-born-female twin was 2325+501g (95% CI=2197-2453 p>0.05. When the birthweight difference exceeded 750g, the probability that Twin I will be heavier than Twin II was 83.3% (5 of 6. Conclusion: Although the first-born twin was more often heavier than their second-born siblings, either could weigh more or less at birth. The larger the birthweight difference between growth-discordant twin pair, the greater the probability that the heavier twin would be delivered first

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

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  11. Importance of genetic factors in the occurrence of epilepsy syndrome type: a twin study

    DEFF Research Database (Denmark)

    Corey, Linda A; Pellock, John M; Kjeldsen, Marianne J

    2011-01-01

    Although there is strong evidence that genetic factors contribute to risk for epilepsy, their role in the determination of syndrome type is less clear. This study was undertaken to address this question. Information related to epilepsy was obtained from twins included in 455 monozygotic and 868...... dizygotic pairs ascertained from population-based twin registries in Denmark, Norway and the United States. Syndrome type was determined based on medical record information and detailed clinical interviews and classified using the International Classification Systems for the Epilepsies and Epileptic...... Syndromes. Concordance rates were significantly increased in monozygotic versus dizygotic pairs for all major syndrome groups except localization-related cryptogenic epilepsy. Among generalized epilepsies, genetic factors were found to play an important role in the determination of childhood absence...

  12. Genetic and Environmental Influences on Two Measures of Speed of Information Processing and Their Relation to Psychometric Intelligence: Evidence from the German Observational Study of Adult Twins.

    Science.gov (United States)

    Neubauer, Alioscha C.; Spinath, Frank M.; Riemann, Rainer; Angleitner, Alois; Borkenau, Peter

    2000-01-01

    Administered 2 elementary cognitive task (ECT) tests and 2 psychometric intelligence tests to 169 monozygotic and 131 dizygotic pairs of twins in Germany. Reaction times correlated negatively with psychometric intelligence, and habitability estimates were substantial for both psychometric intelligence and reaction times on the ECTs. Multivariate…

  13. Healthy co-twins of patients with affective disorders show reduced risk-related activation of the insula during a monetary gambling task

    DEFF Research Database (Denmark)

    Macoveanu, Julian; Miskowiak, Kamilla; Kessing, Lars V

    2016-01-01

    brain. RESULTS: We included 30 monozygotic and 37 dizygotic twins in our analysis. Neural activity in the anterior insula and ventral striatum increased linearly with the amount of gambling risk in the entire cohort. Individual neuroticism scores were positively correlated with the neural response...

  14. Healthy co-twins of patients with affective disorders show reduced risk-related activation of the insula during a monetary gambling task

    DEFF Research Database (Denmark)

    Macoveanu, Julian; Miskowiak, Kamilla; Kessing, Lars V

    2015-01-01

    brain. RESULTS: We included 30 monozygotic and 37 dizygotic twins in our analysis. Neural activity in the anterior insula and ventral striatum increased linearly with the amount of gambling risk in the entire cohort. Individual neuroticism scores were positively correlated with the neural response...

  15. 成年双生子血尿酸遗传度研究%Heritability of serum uric acid in adult twins

    Institute of Scientific and Technical Information of China (English)

    段海平; 逄增昌; 张东峰; 汪韶洁; 翟耀明; 张栋; 谭启华

    2010-01-01

    Objective To assess the heritability of serum uric acid in adult,using the classic twin design.Methods Adult Twins were recruited from the Qingdao Twin Registry.Uric acid,height,weight were measured.Zygosity in all the same-sex twin pairs was determined by 16 polymorphic markers.Heritability was assessed by structural equation models,with age,gender and body mass index(BMI) included as covariates.Results In total,687 twin pairs were available for data analyses,including 420 pairs of monozygotic and 267 pairs of dizygotic twins.After logarithm transformed,uric acid in males ( 17.47±1.91 ) was significantly higher than in females ( 15.22±1.70,P<0.0001 ).After adjustment on age,sex and BMI,intraclass correlations for uric acid were 0.70 for monozygotic twins and 0.40 for dizygotic twins.The sex-limitation AE model,combining additive genetic and unique environmental factors,could produce the best fit for the data.Heritability estimate for uric acid was 70.5% (95% CI:65.9-74.6),with the proportion of unique environmental effects as 29.5%(95%CI:25.4-34.2).Conclusion Additive genetic effects appeared to be the major contributor to the variation of uric acid in this twins sample being studied.%目的 用双生子研究方法 对成年人血尿酸的遗传度进行估计.方法 从青岛双生子库募集成年双生子.测量身高、体重和血尿酸.相同性别的双生子采用16个多态标记进行卵型鉴定.通过校正年龄、性别和BMI,来构建结构方程模型估计遗传度.结果 共收集687对双生子数据,其中同卵双生子420对,异卵双生子267对.经平方根转换后,男性血尿酸水平(17.47±1.91)略高于女性(15.22±1.70)(P<0.0001),通过校正年龄、性别和BMI后双生子血尿酸的组内相关系数分别为,同卵双生子0.70、异卵双生子0.40.运用性别限制模型进行拟合,最佳模型AE模型,加性别遗传因素和特殊环境因素共同作用血尿酸的水平.血尿酸的遗传度为70.5%(95%CI:65.9

  16. Cone-Beam computed tomography evaluation of maxillary expansion in twins with cleft lip and palate

    OpenAIRE

    Luciane Macedo de Menezes; Fabiane Azeredo; André Weissheimer; Juliana Lindemann Rizzato; Susana Maria Deon Rizzatto

    2012-01-01

    OBJECTIVE: The establishment of normal occlusal relationships in patients with cleft lip and palate using rapid maxillary expansion may promote good conditions for future rehabilitation. OBJECTIVE: This study describes the clinical case of monozygotic twins with unilateral cleft lip and palate at the age of mixed dentition, who were treated using the same rapid maxillary expansion protocol, but with two different screws (conventional and fan-type expansion screw). Results were evaluated using...

  17. Trends in occurrence of twin births in Japan.

    Science.gov (United States)

    Kurosawa, Kenji; Masuno, Mitsuo; Kuroki, Yoshikazu

    2012-01-01

    The rise in the rate of multiple births since the 1980s is due to the effect of advanced maternal age and increased use of assisted reproductive technology (ART). To determine the trends of prevalence in twin births, we studied the data of a population-based birth defects monitoring system during 26 years in Kanagawa Prefecture, Japan. A total of 15,380 twins from 7,690 deliveries were ascertained from 990,978 births in the Kanagawa Birth Defects Monitoring Program (KAMP) during 1981-2008. From the start of KAMP in 1981, the incidence of twin births had been consistently increasing from 57.0 to 98.6 per 10,000 deliveries until 2003, but after this time, the incidence declined to 78.5 in 2007. While the rate of monozygotic twins has been stable (∼40 per 10,000 deliveries) after 1990, that of dizygotic twins increased from 25.3 to 57.3 per 10,000 deliveries until 2002, and recovered to 40.1 in 2007. These results showed the most recent tendency of twin births and indicated that the single embryo transfer method can provide protection and reduction of perinatal risk caused by multiple births.

  18. Behavioral and Environmental Modification of the Genetic Influence on Body Mass Index: A Twin Study.

    Science.gov (United States)

    Horn, Erin E; Turkheimer, Eric; Strachan, Eric; Duncan, Glen E

    2015-07-01

    Body mass index (BMI) has a strong genetic basis, with a heritability around 0.75, but is also influenced by numerous behavioral and environmental factors. Aspects of the built environment (e.g., environmental walkability) are hypothesized to influence obesity by directly affecting BMI, by facilitating or inhibiting behaviors such as physical activity that are related to BMI, or by suppressing genetic tendencies toward higher BMI. The present study investigated relative influences of physical activity and walkability on variance in BMI using 5079 same-sex adult twin pairs (70 % monozygotic, 65 % female). High activity and walkability levels independently suppressed genetic variance in BMI. Estimating their effects simultaneously, however, suggested that the walkability effect was mediated by activity. The suppressive effect of activity on variance in BMI was present even with a tendency for low-BMI individuals to select into environments that require higher activity levels. Overall, our results point to community- or macro-level interventions that facilitate individual-level behaviors as a plausible approach to addressing the obesity epidemic among US adults.

  19. Treatment responses to tooth whitening in twins.

    Science.gov (United States)

    Corby, Patricia M A; Biesbrock, Aaron; Gerlach, Robert; Corby, Andrea L; Moreira, Alexandre; Schork, Nicholas J; Bretz, Walter A

    2014-02-01

    The aim of this study was to determine heritability estimates of treatment responses to a 10% hydrogen peroxide strip-based whitening system in twins. Eighty-five twin pairs were randomly assigned to 10% hydrogen peroxide whitening strips or placebo strips without peroxide. Both twins (monozygotic or dizygotic) received the same treatment. Maxillary teeth were treated for 30 minutes twice daily for 7 days. Efficacy was measured objectively as L* (light-dark), a* (red-green), and b* (yellow-blue) color change from digital images at baseline (∆) and day 8. Heritability estimates for tooth whitening treatment responses for changes from day 8 to baseline were obtained using variance-component methodologies. Whitening treatment responses were highly heritable (h(2) = 71.0) for ∆b* and ∆a*(p < .0001), but not for ∆L* (h(2) = 27.0), which was essentially modulated by environmental factors. This study has demonstrated that both genetic and environmental factors significantly contributed to seven-day whitening treatment responses achieved with 10% hydrogen peroxide strips.

  20. A possible genetic influence in parenchyma and small airway changes in COPD: a pilot study of twins using HRCT.

    Science.gov (United States)

    Tarnoki, D L; Tarnoki, A D; Lazar, Zs; Korom, Cs; Berczi, V; Horvath, I; Karlinger, K

    2014-06-01

    Genetic effects that contribute to the risk of developing chronic obstructive pulmonary disease (COPD) have been reported. Our purpose was to estimate the possible genetic influence on CT features related to COPD in twins. Two COPD-discordant and one COPD-concordant monozygotic (MZ) twin pair, in addition to 2 control dizygotic (DZ) twin pairs underwent a low-dose high resolution computer tomography (HRCT) in inspiration and expiration (Philips Brilliance 16). Monozygotic twins were more similar in lung volume expiration and in air trapping score compared to dizygotics (382 cm(3) vs. 2303 cm(3) and 17.6% vs. 26.6%, respectively). In general, MZ twin pairs showed almost identical HRCT features independently of smoking attitude and COPD status. The dizygotic twin pairs showed larger differences in HRCT features compared to MZ twins. Lung parenchymal and small airway changes (lung density, presence of bronchial wall thickening, bronchiectasis and/or mucus plug formation, air trapping and emphysema score) seem to be genetically associated traits, independently of smoking/COPD history. A future study with a larger sample size should confirm our findings.

  1. Genes and Memory: The Neuroanatomical Correlates of Emotional Memory in Monozygotic Twin Discordant for Schizophrenia

    Science.gov (United States)

    Fahim, Cherine; Stip, Emmanuel; Mancini-Marie, Adham; Beauregard, Mario

    2004-01-01

    Background: Brain morphology and physiological measures in schizophrenia have yielded inconsistent results. This may be due in part to difficulties in ascertaining precisely to what degree each measure deviates from its genetically and environmentally determined potential level. We attempted to surmount this problem in a paradigm involving…

  2. Two cases of the caudal duplication anomaly including a discordant monozygotic twin

    NARCIS (Netherlands)

    Kroes, HY; Takahashi, M; Zijlstra, RJ; Baert, JALL; Kooi, KA; Hofstra, RMW; van Essen, AJ

    2002-01-01

    We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The second patient was diagnosed with a duplication

  3. A Discordant Monozygotic Twin Design Shows Blunted Cortisol Reactivity among Bullied Children

    Science.gov (United States)

    Ouellet-Morin, Isabelle; Danese, Andrea; Bowes, Lucy; Shakoor, Sania; Ambler, Antony; Pariante, Carmine M.; Papadopoulos, Andrew S.; Caspi, Avshalom; Moffitt, Terrie E.; Arseneault, Louise

    2011-01-01

    Objective: Childhood adverse experiences are known to engender persistent changes in stress-related systems and brain structures involved in mood, cognition, and behavior in animal models. Uncertainty remains about the causal effect of early stressful experiences on physiological response to stress in human beings, as the impact of these…

  4. Whole genome and exome sequencing of monozygotic twins discordant for Crohn?s disease

    National Research Council Canada - National Science Library

    Petersen, Britt-Sabina; Spehlmann, Martina E; Raedler, Andreas; Stade, Bj?rn; Thomsen, Ingo; Rabionet, Raquel; Rosenstiel, Philip; Schreiber, Stefan; Franke, Andre

    2014-01-01

    .... We aimed to test if somatic mutations play a role in CD etiology by sequencing the genomes and exomes of directly affected tissue from the bowel and blood samples of one and the blood-derived exomes...

  5. Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease

    National Research Council Canada - National Science Library

    Petersen, Britt-Sabina; Spehlmann, Martina E; Raedler, Andreas; Stade, Björn; Thomsen, Ingo; Rabionet, Raquel; Rosenstiel, Philip; Schreiber, Stefan; Franke, Andre

    2014-01-01

    .... We aimed to test if somatic mutations play a role in CD etiology by sequencing the genomes and exomes of directly affected tissue from the bowel and blood samples of one and the blood-derived exomes...

  6. Two cases of the caudal duplication anomaly including a discordant monozygotic twin

    NARCIS (Netherlands)

    Kroes, HY; Takahashi, M; Zijlstra, RJ; Baert, JALL; Kooi, KA; Hofstra, RMW; van Essen, AJ

    2002-01-01

    We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The second patient was diagnosed with a duplication o

  7. Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Wyszynski, D.F. [Johns Hopkins Univ., Baltimore, MD (United States)]|[National Center for Human Genome Research, Bethesda, MD (United States); Lewanda, A.F. [Johnson Hopkins Hospital, Baltimore, MD (United States)]|[Children`s National Medical Center, Washington, DC (United States); Beaty, T.H. [Johns Hopkins Univ., Balitomre, MD (United States)

    1996-12-30

    Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

  8. Different neural and cognitive response to emotional faces in healthy monozygotic twins at risk of depression

    DEFF Research Database (Denmark)

    Miskowiak, K W; Glerup, L; Vestbo, C

    2014-01-01

    BACKGROUND: Negative cognitive bias and aberrant neural processing of emotional faces are trait-marks of depression. Yet it is unclear whether these changes constitute an endophenotype for depression and are also present in healthy individuals with hereditary risk for depression. METHOD: Thirty......-risk controls. These effects occurred in the absence of differences between groups in mood, subjective state or coping. CONCLUSIONS: Different neural response and functional connectivity within fronto-limbic and occipito-parietal regions during emotional face processing and enhanced fear vigilance may be key...

  9. Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities

    Directory of Open Access Journals (Sweden)

    Hashem S. Almarzouki

    2016-10-01

    Full Text Available Introduction: Peters anomaly is a rare developmental malformation involving the anterior segment of the eye, which culminates in amblyopia or congenital blindness. Multiple ocular and/or systemic malformations have been observed with this anomaly, and novel comorbidities continue to be reported. Case Presentation: The probands were monozygotic twin boys (twin I and twin II born to consanguineous parents at 36 weeks of gestation. Coarse facial features and deep-seated eyes were noted at birth. At 6 months, ophthalmic examination revealed that both twins were unable to blink in response to light, or to fixate and follow a moving object. Both twins had prominent horizontal nystagmus. Slit-lamp examination demonstrated varying degrees of central leukoma (corneal opacity associated with iridocorneal adhesion, which is characteristic of type I Peters anomaly. No cataractous changes were observed. Normal intraocular pressure and disorganized retina were observed. Pupillary abnormalities included bilaterally underdeveloped pupils and bilateral absence of pupils was noted. Ocular MRI showed bilateral microphthalmia and optic nerve hypoplasia, with a small optic chiasm in both twins. At this age, the diagnosis of Peters anomaly was made. At 16 months of age, both twins developed deep venous thrombosis and purpuric skin lesions. Investigations revealed a hereditary thrombophilia secondary to a homozygous mutation causing protein C deficiency, which is a rare thrombotic condition. Ocular ultrasonography revealed bilateral vitreous hemorrhaging linked to altered coagulation. One twin developed bilateral inguinal hernia and cryptorchidism. Conclusion: The novel concordance of Peters anomaly in these monozygotic twins sharing a mutation in PROC gene provides further evidence that this anomaly has a genetic basis. Hypoplasia of the optic nerves and optic chiasm, along with severe protein C deficiency and bilateral absence of the pupils, are associated

  10. Effects of asthma on stability of Wisconsin card sorting test measures A twin study

    Institute of Scientific and Technical Information of China (English)

    Yixiao Fu; Huaqing Meng; Hengshu Zhang; Lu Jia; Qinghua Luo

    2008-01-01

    BACKGROUND:The four measures used to assess the stability of the Wisconsin card sorting test (WEST),that is,the number of preservative errors,percentage of preservative errors,number of categories completed,and the number of trials to complete the first category,reflect the function of the frontal lobe.OBJECTIVE:This study was designed to investigate the effects of asthma on the stability of WCST measurements through the use of a twin study,and to analyze whether egg-type difference exists.DESIGN:A cohort study.SETTING:Mental Health Center,the First Affiliated Hospital of Chongqing Medical University.PARTICIPANTS:Fifty-nine pairs of twins,aged 6-16 years,were primarily selected from schools between August 2005 and February 2007 and the WeST and Zygosity identification test was applied.Twins with achromatopsia,severe upper limb diseases,somatic diseases,or mental disorders were excluded.According to disease history of asthmatic attack,children were assigned into asthma(n=16)and non-asthma(n=43)groups.METHODS:Four WCST measurements were determined in the 59 pairs of twins,and egg-type differences were identified in conjunction.RESULTS:All 59 pairs of twins were included in the final analysis.Among the pairs of twins,28 (48.5%)were monozygotic twins,and 31(52%)were dizygotic twins.Among the monozygotic and dizygotic twins,the number of preservative errors and percentage of preservative errors were significantly higher in the asthma group than in the non-asthma group(P0.05).CONCLUSION:Asthma may affect the stability of WCST measures,but egg-type differences do not exist.

  11. Do other people's plights matter? A genetically informed twin study of the role of social context in the link between peer victimization and children's aggression and depression symptoms.

    Science.gov (United States)

    Brendgen, Mara; Vitaro, Frank; Barker, Edward D; Girard, Alain; Dionne, Ginette; Tremblay, Richard E; Boivin, Michel

    2013-02-01

    Using a genetically informed design, this study examined the additive and interactive effects of genetic risk, personal peer victimization experiences, and peer victimization experienced by others on children's aggression and depression symptoms. Of major interest was whether these effects varied depending on whether or not the victimized others were children's close friends. The sample comprised 197 monozygotic and same-sex dizygotic twin pairs reared together (95 female pairs) assessed in Grade 4. Each twin's victimization experiences and victimization experienced by his or her friends and other classmates were measured using individuals' reports about their own levels of peer victimization. Aggression was assessed using peer nominations, and depression was measured using self-reports. Indicative of a possible social-learning mechanism or the emotional contagion of anger, multilevel regressions showed that personal victimization experiences were related to especially high levels of aggression when close friends where also highly victimized, albeit only in boys. Moreover, in line with social comparison theory, the effect of frequent personal victimization experiences on depressive feelings was much weaker when close friends were also highly victimized than when close friends were not or were only rarely victimized. Finally, a high level of peer victimization experienced by other classmates was related to a lower level of aggression in girls and boys, possibly because of a heightened sense of threat in classrooms where many suffer attacks from bullies. All of these results were independent of children's genetic risk for aggression or depression. Theoretical and practical implications are discussed.

  12. TWIN PREGNANCY WITH ACARDIUS ANCEPS

    Directory of Open Access Journals (Sweden)

    Padma

    2014-02-01

    Full Text Available Acardiac twin is an anomaly unique to monochorionic multiple pregnancies, characterized by formation of malformed fetus with an absent or rudimentary (nonfunctional heart. Acardiac twinning, often results from abnormal placental vascular anastomoses. A 20 year old primigravida admitted to the department of Obstetrics and Gynecology S .S. Medical College, Rewa, on 26th July 2012 at the gestation of 34 week with spontaneous monochorionic monoamniotic twin pregnancy and fetal acardius with oligohydramnios. Patient was taking her treatment from private Hospital; acardius was diagnosed at 27 week due to late booking. In view of oligohydramnios and hypoxic changes in color Doppler, elective LSCS was done on 28/7/13 at 34 week 2 day, after betnesol coverage. She delivered a live, healthy, female child with good APGAR score having apparently no congenital anomaly, with a birth weight of 2.3 kg .The other twin was fetus acardius, of about900 gm. with head and face partially developed . Upper limb was rudimentary and lower limb was partially developed and malformed. External genitalia were developed as female. Placenta was monochorionic and monoamniotic, weighing500 gm. The umbilical cord of the normal twin was20 cm with central attachment, while the other umbilical cord was10 cm long with peripheral attachment

  13. A twin study of posttraumatic stress disorder symptoms and chronic widespread pain.

    Science.gov (United States)

    Arguelles, Lester M; Afari, Niloofar; Buchwald, Dedra S; Clauw, Daniel J; Furner, Sylvia; Goldberg, Jack

    2006-09-01

    Previous studies of the association between posttraumatic stress disorder (PTSD) and chronic widespread pain (CWP) or fibromyalgia have not examined the role of familial or genetic factors. The goals of this study were to determine if symptoms of PTSD are related to CWP in a genetically informative community-based sample of twin pairs, and if so, to ascertain if the association is due to familial or genetic factors. Data were obtained from the University of Washington Twin Registry, which contains 1042 monozygotic and 828 dizygotic twin pairs. To assess the symptoms of PTSD, we used questions from the Impact of Events Scale (IES). IES scores were partitioned into terciles. CWP was defined as pain located in 3 body regions lasting at least 1 week during the past 3 months. Random-effects regression models, adjusted for demographic features and depression, examined the relationship between IES and CWP. IES scores were strongly associated with CWP (P<0.0001). Compared to those in the lowest IES tercile, twins in the highest tercile were 3.5 times more likely to report CWP. Although IES scores were associated with CWP more strongly among dizygotic than among monozygotic twins, this difference was not significant. Our findings suggest that PTSD symptoms, as measured by IES, are strongly linked to CWP, but this association is not explained by a common familial or genetic vulnerability to both conditions. Future research is needed to understand the temporal association of PTSD and CWP, as well as the physiological underpinnings of this relationship.

  14. Effect of co-twin gender on neurodevelopmental symptoms: a twin register study.

    Science.gov (United States)

    Eriksson, Jonna Maria; Lundström, Sebastian; Lichtenstein, Paul; Bejerot, Susanne; Eriksson, Elias

    2016-01-01

    Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental disorders thought to have both genetic and environmental causes. It has been hypothesized that exposure to elevated levels of prenatal testosterone is associated with elevated traits of ASD and ADHD. Assuming that testosterone levels from a dizygotic male twin fetus may lead to enhanced testosterone exposure of its co-twins, we aimed to test the prenatal testosterone hypothesis by comparing same-sex with opposite-sex dizygotic twins with respect to neurodevelopmental symptoms. Neuropsychiatric traits were assessed in a population-based twin cohort from the Child and Adolescent Twin Study in Sweden (CATSS). Parental interviews were conducted for 16,312 dizygotic twins, 9 and 12 years old, with the Autism-Tics, ADHD, and other Comorbidities inventory (A-TAC). Girls with a female co-twin had an increased risk of reaching the cut-off score for ADHD compared with girls with a male co-twin. Both boys and girls with a female co-twin displayed a larger number of traits related to attention deficit and repetitive and stereotyped behaviors than those with a male twin. In girls, this also extended to social interaction and the combined measures for ASD and ADHD, however, with small effect sizes. Our results are reverse to what would have been expected from the prenatal testosterone hypothesis but consistent with a previous study of ASD and ADHD traits in dizygotic twins. The seemingly protective effect for girls of having a twin brother may be an effect of parent report bias, but may also be an unexpected effect of sharing the intrauterine environment with a male co-twin.

  15. Birth weight and risk of asthma in 3-9-year-old twins

    DEFF Research Database (Denmark)

    Kindlund, Karin; Thomsen, Simon Francis; Stensballe, Lone Graff

    2010-01-01

    length and Apgar score, OR 1.31 (95% CI 1.03 to 1.65), p=0.027. The risk tended to be higher in monozygotic co-twins compared with dizygotic co-twins, especially for high birth weight differences. CONCLUSIONS: Low birth weight is a risk factor for asthma independently of gestational age, sex, birth...... weight, OR (per 100 g) 1.04 (95% CI 1.03 to 1.05), pbirthweight twin had a significantly increased risk of asthma compared with the heavier co-twin (11.3% vs 9.9%), OR 1.30 (95% CI 1.10 to 1.54), p=0.002. The result remained significant after adjusting for sex, birth...... length and Apgar score, but this may be due, in part, to residual non-genetic confounding factors. This finding lends support to the "fetal origins hypothesis" suggesting undisclosed prenatal determinants for the risk of asthma....

  16. Paternal age and telomere length in twins: the germ stem cell selection paradigm.

    Science.gov (United States)

    Hjelmborg, Jacob B; Dalgård, Christine; Mangino, Massimo; Spector, Tim D; Halekoh, Ulrich; Möller, Sören; Kimura, Masayuki; Horvath, Kent; Kark, Jeremy D; Christensen, Kaare; Kyvik, Kirsten O; Aviv, Abraham

    2015-08-01

    Telomere length, a highly heritable trait, is longer in offspring of older fathers. This perplexing feature has been attributed to the longer telomeres in sperm of older men and it might be an 'epigenetic' mechanism through which paternal age plays a role in telomere length regulation in humans. Based on two independent (discovery and replication) twin studies, comprising 889 twin pairs, we show an increase in the resemblance of leukocyte telomere length between dizygotic twins of older fathers, which is not seen in monozygotic twins. This phenomenon might result from a paternal age-dependent germ stem cell selection process, whereby the selected stem cells have longer telomeres, are more homogenous with respect to telomere length, and share resistance to aging.

  17. Infertility, infertility treatment and twinning: the Danish National BirthCohort

    DEFF Research Database (Denmark)

    Zhu, Jin Liang; Basso, Olga; Obel, Carsten

    2007-01-01

    BACKGROUND We have previously observed that an increasing time to pregnancy (TTP) is associated with a reduced frequency of twin deliveries in couples not receiving infertility treatment. By using updated information, we assessed the frequencies of dizygotic (DZ) and monozygotic (MZ) twin...... deliveries as a function of infertility (TTP>12 months), as well as infertility treatment. METHODS From the Danish National Birth Cohort (1997-2003), we identified 51 730 fertile couples with TTPwith TTP>12 months and 5163 infertile couples who conceived after treatment. Information on zygosity, available...... for part of the cohort (1997-2000), was based on standardized questions on the similarities between the twins at the age of 3-5 years. RESULTS Compared with fertile couples, the frequency of DZ twin deliveries was lower for infertile couples conceiving naturally (odds ratio 0.4, 95% confidence interval 0...

  18. Does educational status impact adult mortality in Denmark? A twin approach

    DEFF Research Database (Denmark)

    Madsen, Mia; Andersen, Anne-Marie Nybo; Christensen, Kaare;

    2010-01-01

    design. The study is based on data from the Danish Twin Registry and Statistics Denmark. Using Cox regression, they estimated hazard ratios for mortality according to the highest attained education among 5,260 monozygotic and 11,088 dizygotic same-sex twin pairs born during 1921-1950 and followed during......To disentangle an independent effect of educational status on mortality risk from direct and indirect selection mechanisms, the authors used a discordant twin pair design, which allowed them to isolate the effect of education by means of adjustment for genetic and environmental confounding per......-1935, and no effect modification by zygosity was observed. Hence, the results are most compatible with an effect of early family environment in explaining the educational inequality in mortality. However, large educational differences were still reflected in mortality risk differences within twin pairs, thus...

  19. Low birth weight and zygosity status is associated with defective muscle glycogen and glycogen synthase regulation in elderly twins

    DEFF Research Database (Denmark)

    Poulsen, Pernille; Wojtaszewski, Jørgen; Richter, Erik;

    2007-01-01

    AND METHODS: We measured the activities of glycogen synthase (GS), GS kinase (GSK)3 alpha, GS phosphorylation, and glycogen levels in muscle biopsies obtained from 184 young and elderly twins before and after a euglycemic-hyperinsulinemic clamp. RESULTS: Elderly monozygotic twins had significantly lower...... fractional GS activity amidst higher glycogen and GS protein levels compared with dizygotic twins. In addition, we demonstrated strong nongenetic associations between birth weight and defect muscle glycogen metabolism in elderly--but not in younger--twins. Thus, for every 100 g increase in birth weight...... within pairs, GS fractional activity, GS protein level, and glycogen content was increased by 4.2, 8.7, and 4.5%, respectively, in elderly twins. Similarly, for every 100 g increase in birth weight, GSK3 alpha activity and GS phosphorylation at the sites 2, 2+2a, and 3a+3b were decreased by 3.1, 9.0, 10...

  20. Heritability assessment of cartilage metabolism. A twin study on circulating procollagen IIA N-terminal propeptide (PIIANP)

    DEFF Research Database (Denmark)

    Munk, H L; Svendsen, A J; Hjelmborg, J V B;

    2014-01-01

    OBJECTIVE: The aim of this investigation was to estimate the heritability of circulating collagen IIA N-terminal propeptide (PIIANP) by studying mono- and dizygotic healthy twin pairs at different age and both genders. DESIGN: 598 monozygotic (MZ) and dizygotic (DZ) twin individuals aged 18......-59 years were recruited from the Danish Twin Registry. PIIANP was measured by competitive ELISA. The similarity of circulating PIIANP among MZ and DZ twins was assessed by intraclass correlations according to traits. The heritability was estimated by variance component analysis accounting for additive...... and dominant genetic factors as well as shared and non-shared environment but ignoring epistasis (genetic inter-locus interaction) and gene-environment interaction. RESULTS: The intraclass correlation of PIIANP in MZ and DZ twins was 0.69 (0.60-0.76) and 0.46 (0.34-0.58) respectively indicating a significant...

  1. The first large population based twin study of coeliac disease

    Science.gov (United States)

    Greco, L; Romino, R; Coto, I; Di Cosmo, N; Percopo, S; Maglio, M; Paparo, F; Gasperi, V; Limongelli, M G; Cotichini, R; D'Agate, C; Tinto, N; Sacchetti, L; Tosi, R; Stazi, M A

    2002-01-01

    Background and aims: The genetic load in coeliac disease has hitherto been inferred from case series or anecdotally referred twin pairs. We have evaluated the genetic component in coeliac disease by estimating the concordance rate for the disease among twin pairs in a large population based study. Methods: The Italian Twin Registry was matched with the membership lists of a patient support group. Forty seven twin pairs were recruited and screened for antiendomysial (EMA) and antihuman-tissue transglutaminase (anti-tTG) antibodies; zygosity was verified by DNA fingerprinting and twins were typed for HLA class II DRB1 and DQB1 molecules. Results: Concordance rates for coeliac disease differ significantly between monozygotic (MZ) (0.86 probandwise and 0.75 pairwise) and dizygotic (DZ) (0.20 probandwise and 0.11 pairwise) twins. This is the highest concordance so far reported for a multifactorial disease. A logistic regression model, adjusted for age, sex, number of shared HLA haplotypes, and zygosity, showed that genotypes DQA1*0501/DQB1*0201 and DQA1*0301/DQB1*0302 (encoding for heterodimers DQ2 and DQ8, respectively) conferred to the non-index twin a risk of contracting the disease of 3.3 and 1.4, respectively. The risk of being concordant for coeliac disease estimated for the non-index twin of MZ pairs was 17 (95% confidence interval 2.1–134), independent of the DQ at risk genotype. Conclusion: This study provides substantial evidence for a very strong genetic component in coeliac disease, which is only partially due to the HLA region. PMID:11950806

  2. EFFECTS OF LONG-TERM PHYSICAL ACTIVITY ON CARDIAC STRUCTURE AND FUNCTION: A TWIN STUDY

    Directory of Open Access Journals (Sweden)

    Urho M.Kujala

    2009-12-01

    Full Text Available Previous studies have shown that athletic training or other physical activity causes structural and functional adaptations in the heart, but less is known how long-term physical activity affects heart when genetic liability and childhood environment are taken into account. The aim of this study was to investigate the effects of long-term physical activity vs. inactivity on cardiac structure and function in twin pairs discordant for physical activity for 32 years. Twelve same-sex twin pairs (five monozygotic and seven dizygotic, 50-67 years were studied as a part of the TWINACTIVE study. Discordance in physical activity was initially determined in 1975 and it remained significant throughout the follow-up. At the end of the follow-up in 2007, resting echocardiographic and electrocardiographic measurements were performed. During the follow-up period, the active co-twins were on average 8.2 (SD 4.0 MET hours/day more active than their inactive co-twins (p < 0.001. At the end of the follow-up, resting heart rate was lower in the active than inactive co-twins [59 (SD 5 vs. 68 (SD 10 bpm, p=0.03]. The heart rate-corrected QT interval was similar between the co-twins. Also, there was a tendency for left ventricular mass per body weight to be greater and T wave amplitude in lead II to be higher in the active co-twins (18% and 15%, respectively, p=0.08 for both. Similar trends were found for both monozygotic and dizygotic twin pairs. In conclusion, the main adaptation to long- term physical activity is lowered resting heart rate, even after partially or fully controlling for genetic liability and childhood environment

  3. Methylation as an epigenetic source of random genetic effects in the classical twin design

    Directory of Open Access Journals (Sweden)

    Dolan CV

    2015-09-01

    Full Text Available Conor V Dolan,1,3 Michel G Nivard,1,3 Jenny van Dongen,1,3 Sophie van der Sluis,2 Dorret I Boomsma,1,3,41Department of Biological Psychology, Netherlands Twin Register, VU University Amsterdam, 2Section Complex Trait Genetics, Department of Clinical Genetics, VU Medical Center, 3EMGO+ Institute for Health and Care Research, VU University Medical Center, 4Neuroscience Campus Amsterdam, Amsterdam, the Netherlands Abstract: The epigenetic effects of cytosine methylation on gene expression are an acknowledged source of phenotypic variance. The discordant monozygotic (MZ twin design has been used to demonstrate the role of methylation in disease. Application of the classical twin design, featuring both monozygotic and dizygotic twins, has demonstrated that individual differences in methylation levels are attributable to genetic and environmental (including stochastic factors, with the latter explaining most of the variance. What implications epigenetic sources of variance have for the twin modeling of (non-epigenetic phenotypes such as height and IQ is an open question. One possibility is that epigenetic effects are absorbed by the variance component attributable to unshared environmental. Another possibility is that such effects form an independent source of variance distinguishable in principle from standard genetic and environmental sources. In the present paper, we conceptualized epigenetic processes as giving rise to randomness in the effects of polygenetic influences. This means that the regression coefficient in the regression of the phenotype on the polygenic factor, as specified in the twin model, varies over individuals. We investigate the consequences of ignoring this randomness in the standard twin model. Keywords: classical twin design, epigenetics, methylation, parameter randomness, heritability

  4. Cerebral asymmetry in twins: predictions of the right shift theory.

    Science.gov (United States)

    Annett, Marian

    2003-01-01

    A study of the heritability of lobar brain volumes in twins has introduced a new approach to questions about the genetics of cerebral asymmetry. In addition to the classic comparison between monozygotic (MZ) and dizygotic (DZ) twins, a contrast was made between pairs of two right-handers (RR pairs) and pairs including one or more non-right-hander (non-RR pairs), in the light of the right shift (RS) theory of handedness. This paper explains the predictions of the RS model for pair concordance for genotype, cerebral asymmetry and handedness in healthy MZ and DZ twins. It shows how predictions for cerebral asymmetry vary between RR and non-RR pairs over a range of incidences of left-handedness. Although MZ twins are always concordant for genotype and DZ twins may be discordant, differences for handedness and cerebral asymmetry are expected to be small, consistent with the scarcity of significant effects in the literature. Marked differences between RR and non-RR pairs are predicted at all levels of incidence, the differences slightly larger in MZ than DZ pairs.

  5. Inheritance of finger pattern types in MZ and DZ twins.

    Science.gov (United States)

    Karmakar, B; Malkin, I; Kobyliansky, E

    2011-08-01

    Digital patterns of a sample on twins were analyzed to estimate the resemblance between monozygotic (MZ) and dizygotic (DZ) twins and to evaluate the mode of inheritance by the use of maximum likelihood based variance decomposition analysis. MZ twin resemblance of finger pattern types appears to be more pronounced than in DZ twins, which suggests the presence of genetic factors in the forming of fingertip patterns. The most parsimonious model shows twin resemblance in count of all three basic finger patterns on 10 fingers. It has significant dominant genetic variance component across all fingers. In the general model, the dominant genetic variance component proportion is similar for all fingertips (about 60%) and the sibling environmental variance is significantly nonzero, but the proportion between additive and dominant variance components was different. Application of genetic model fitting technique of segregation analyses clearly shows mode of inheritance. A dominant genetic variance component or a specific genetic system modifies the phenotypic expression of the fingertip patterns. The present study provided evidence of strong genetic component in finger pattern types and seems more informative compared to the earlier traditional method of correlation analysis.

  6. Heredity In Sarcoidosis - A Registry-Based Twin Study

    DEFF Research Database (Denmark)

    Sverrild, Asger; Backer, Vibeke; Kyvik, Kirsten Ohm

    2008-01-01

    of sarcoidosis in order to assess the overall contribution of genetic factors to the disease susceptibility. METHODS: Monozygotic and dizygotic twins enrolled in either the Danish or the Finnish population-based, national Twin Cohorts (61,662 pairs in total) were linked to diagnostic information on sarcoidosis...... obtained from the Danish National Patient Registry or the Social Insurance Institution, Finland, registry of re-imbursed medication using the 8th and 10th editions of the International Classification of Diseases. Fisher's exact test was used to compare probandwise concordance rates in different zygosity.......45-0.80). CONCLUSIONS: This study suggests that genetic factors play an important role in the susceptibility to sarcoidosis. This result should encourage the search for molecular genetic markers of the susceptibility to disease....

  7. Heritability of optic disc diameters: a twin study

    DEFF Research Database (Denmark)

    Drobnjak, Dragana; Taarnhøj, Nina Charlotte; Mitchell, Paul

    2011-01-01

    Purpose: To assess the relative influence of genetic and environmental factors on optic disc size and cup/disc ratio in healthy eyes. Methods: A sample of 55 monozygotic and 50 dizygotic healthy twin pairs aged 20-46, all having the same sex within pairs (47 pairs were male) had optic discs......: 20-45%). For cup/disc ratio, additive genetic and unshared environmental factors explained 66% (95% CI: 48-77%) and 34% (95% CI: 23-52%) of the variations, respectively. Discussion: In this healthy twin sample, we found that three quarters of the variations in vertical optic disc and optic cup...... measured from colour fundus photographs according to the Wisconsin Protocol. Structural equation modelling was used to estimate the relative contribution of genetic and environmental factors to the phenotype. Results: Disc dimensions did not vary significantly by age or sex. After adjusting for age and sex...

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

    Science.gov (United States)

    Mucci, Lorelei A.; Hjelmborg, Jacob B.; Harris, Jennifer R.; Czene, Kamila; Havelick, David J.; Scheike, Thomas; Graff, Rebecca E.; Holst, Klaus; Möller, Sören; Unger, Robert H.; McIntosh, Christina; Nuttall, Elizabeth; Brandt, Ingunn; Penney, Kathryn L.; Hartman, Mikael; Kraft, Peter; Parmigiani, Giovanni; Christensen, Kaare; Koskenvuo, Markku; Holm, Niels V.; Heikkilä, Kauko; Pukkala, Eero; Skytthe, Axel; Adami, Hans-Olov; Kaprio, Jaakko

    2017-01-01

    Importance Estimates of familial cancer risk from population-based studies are essential components of cancer risk prediction. Objective To estimate familial risk and heritability of cancer types in a large twin cohort. Design, Setting, and Participants Prospective study of 80 309 monozygotic and 123 382 same-sex dizygotic twin individuals (N = 203 691) within the population-based registers of Denmark, Finland, Norway, and Sweden. Twins were followed up a median of 32 years between 1943 and 2010. There were 50 990 individuals who died of any cause, and 3804 who emigrated and were lost to follow-up. Exposures Shared environmental and heritable risk factors among pairs of twins. Main Outcomes and Measures The main outcome was incident cancer. Time-to-event analyses were used to estimate familial risk (risk of cancer in an individual given a twin's development of cancer) and heritability (proportion of variance in cancer risk due to interindividual genetic differences) with follow-up via cancer registries. Statistical models adjusted for age and follow-up time, and accounted for censoring and competing risk of death. Results A total of 27 156 incident cancers were diagnosed in 23 980 individuals, translating to a cumulative incidence of 32%. Cancer was diagnosed in both twins among 1383 monozygotic (2766 individuals) and 1933 dizygotic (2866 individuals) pairs. Of these, 38% of monozygotic and 26% of dizygotic pairs were diagnosed with the same cancer type. There was an excess cancer risk in twins whose co-twin was diagnosed with cancer, with estimated cumulative risks that were an absolute 5% (95% CI, 4%-6%) higher in dizygotic (37%; 95% CI, 36%-38%) and an absolute 14% (95% CI, 12%-16%) higher in monozygotic twins (46%; 95% CI, 44%-48%) whose twin also developed cancer compared with the cumulative risk in the overall cohort (32%). For most cancer types, there were significant familial risks and the cumulative risks were higher in monozygotic than dizygotic twins

  9. Anorexia and bulimia nervosa in same-sex and opposite-sex twins: lack of association with twin type in a nationwide study of Finnish twins.

    Science.gov (United States)

    Raevuori, Anu; Kaprio, Jaakko; Hoek, Hans W; Sihvola, Elina; Rissanen, Aila; Keski-Rahkonen, Anna

    2008-12-01

    The authors tested the hypothesis that either prenatal feminization or masculinization hormone influences in utero or later socialization affects the risk for anorexia and bulimia nervosa and disordered eating in members of opposite-sex twin pairs. Finnish twins (N=2,426 women, N=1,962 men with known zygosity) from birth cohorts born 1974-1979 were assessed at age 22 to 28 years with a questionnaire for eating disorder symptoms. Based on the questionnaire screen, women (N=292), men (N=53), and their cotwins were interviewed to assess diagnoses of anorexia nervosa and bulimia nervosa (per DSM-IV and broad criteria). In women from opposite-sex twin pairs, the prevalence of DSM-IV or broad anorexia nervosa was not significantly different than that of women from monozygotic pairs or same-sex dizygotic pairs. Of the five male anorexia nervosa probands, only one was from an opposite-sex twin pair. Bulimia nervosa in men was too rare to be assessed by zygosity; the prevalence of DSM-IV or broad bulimia nervosa did not differ in women from opposite- versus same-sex twin pairs. In both sexes, the overall profile of indicators on eating disorders was rather similar between individuals from opposite- and same-sex pairs. The authors found little evidence that the risk for anorexia nervosa, bulimia nervosa, or disordered eating was associated with zygosity or sex composition of twin pairs, thus making it unlikely that in utero femininization or masculinization or socialization effects of growing up with an opposite-sex twin have a major influence on the later development of eating disorders.

  10. The contribution of twins to the study of cognitive ageing and dementia: the Older Australian Twins Study.

    Science.gov (United States)

    Sachdev, Perminder S; Lee, Teresa; Wen, Wei; Ames, David; Batouli, Amir H; Bowden, Jocelyn; Brodaty, Henry; Chong, Elizabeth; Crawford, John; Kang, Kristan; Mather, Karen; Lammel, Andrea; Slavin, Melissa J; Thalamuthu, Anbupalam; Trollor, Julian; Wright, Margie J

    2013-12-01

    The Older Australian Twins Study (OATS) is a major longitudinal study of twins, aged ≥ 65 years, to investigate genetic and environmental factors and their interactions in healthy brain ageing and neurocognitive disorders. The study collects psychiatric, neuropsychological, cardiovascular, metabolic, biochemical, neuroimaging, genomic and proteomic data, with two-yearly assessments, and is currently in its third wave. The initial cohort comprises 623 individuals (161 monozygotic and 124 dizygotic twin pairs; 1 MZ triplets; 27 single twins and 23 non-twin siblings), of whom 426 have had wave 2 assessment. A number of salient findings have emerged thus far which assist in the understanding of genetic contributions to cognitive functions such as processing speed, executive ability and episodic memory, and which support the brain reserve hypothesis. The heritability of brain structures, both cortical and subcortical, brain spectroscopic metabolites and markers of small vessel disease, such as lacunar infarction and white matter hyperintensities, have been examined and can inform future genetic investigations. Work on amyloid imaging and functional magnetic resonance imaging is proceeding and epigenetic studies are progressing. This internationally important study has the potential to inform research into cognitive ageing in the future, and offers an excellent resource for collaborative work.

  11. ETV6-RUNX1 (+) Acute Lymphoblastic Leukaemia in Identical Twins.

    Science.gov (United States)

    Ford, Anthony M; Greaves, Mel

    2017-01-01

    Acute leukaemia is the major subtype of paediatric cancer with a cumulative risk of 1 in 2000 for children up to the age of 15 years. Childhood acute lymphoblastic leukaemia (ALL) is a biologically and clinically diverse disease with distinctive subtypes; multiple chromosomal translocations exist within the subtypes and each carries its own prognostic relevance. The most common chromosome translocation observed is the t(12;21) that results in an in-frame fusion between the first five exons of ETV6 (TEL) and almost the entire coding region of RUNX1 (AML1).The natural history of childhood ALL is almost entirely clinically silent and is well advanced at the point of diagnosis. It has, however, been possible to backtrack this process through molecular analysis of appropriate clinical samples: (i) leukaemic clones in monozygotic twins that are either concordant or discordant for ALL; (ii) archived neonatal blood spots or Guthrie cards from individuals who later developed leukaemia; and (iii) stored, viable cord blood cells.Here, we outline our studies on the aetiology and pathology of childhood ALL that provide molecular evidence for a monoclonal, prenatal origin of ETV6-RUNX1+ leukaemia in monozygotic identical twins. We provide mechanistic support for the concept that altered patterns of infection during early childhood can deliver the necessary promotional drive for the progression of ETV6-RUNX1+ pre-leukaemic cells into a postnatal overt leukaemia.

  12. Genetic influence on bone mineral density in Korean twins and families: the healthy twin study.

    Science.gov (United States)

    Park, J-H; Song, Y-M; Sung, J; Lee, K; Kim, Y S; Park, Y S

    2012-04-01

    Bone mineral density (BMD), a representative marker of osteoporosis risk, is found to be highly heritable in this Korean study, which is very consistent with the findings in Western populations. This finding strongly supports that genetic factors are significant determinants of osteoporosis risk along with individual biological and behavioral factors. Although genetic factors are known to contribute significantly to variations in BMD in Western populations, such an association has not been fully evaluated in an Asian population. This study was conducted to determine the role of genetic factors on BMD in Korean population. The study participants were 2,728 men and women consisting of 497 monozygotic (MZ) twin pairs, 119 dizygotic (DZ) twin pairs, and 1,496 first-degree relatives from the Healthy Twin Study. BMD was measured using dual-energy X-ray absorptiometry. Quantitative genetic analysis based on a variance decomposition model was performed. Age and the measured covariates accounted for 17~61% of the variation in BMD, depending on the sites of measurement. After accounting for the covariate effects, the heritability of BMD at the whole body, thoracic and lumbar spine, whole ribs, whole pelvis, whole arms, and whole legs were 0.76, 0.72, 0.73, 0.71, 0.51, and 0.75, respectively. The pair-wise correlation of BMD was the highest within MZ twin pairs, followed by DZ twin pairs, sibling pairs, and parents-child pairs. Cross-trait correlation analysis revealed a positive genetic correlation between BMDs at different sites, ranging from 0.80 (arm and leg BMD) to 0.50 (pelvis and arm BMD). The high heritability of BMD in this Korean population similar to those found in Western populations and the significant common genetic basis between BMDs at different sites strongly supports a significant role of genetic determinants on the risk of osteoporosis.

  13. Race, zygosity, and mortality among twins: interaction of myth and method.

    Science.gov (United States)

    Boklage, C E

    1987-01-01

    For epidemiological purposes, it is customary to assume that same-sex (SS) dizygotic (DZ) twin pairs are approximately equal in number to unlike-sex (OS)-DZs, the remainder of the SS pairs being monozygotic (MZ). It is also customary to consider OS-DZs to be epidemiologically representative of all DZs, which can only mean that difference in frequency of any trait between OS and SS twins is due to the MZ fraction of the SS twins. Since this is assumed as a premise, there is little value in its usual appearance as the result. The basic tenet of twin biology, that most twin excess anomalies are due to MZs, is a myth self-perpetuated by a methodological tautology, and is false, at least for mortality. In a consecutively ascertained and prospectively studied sample of 616 twin pairs, over 80% diagnosed for zygosity, it can be shown that the standard assumption mentioned above have given impossible answers. The most probable possible answer is that mortality does not differ greatly with zygosity overall, but that SSDZ mortality is much higher than that of OS twins, and probably even higher than that of MZs. Race differences in the probable answers further suggest that standard assumptions of the Weinberg method may have consistently provided false explanations for race differences in the OS fraction of twin pairs.

  14. The Qingdao Twin Registry

    DEFF Research Database (Denmark)

    Duan, Haiping; Ning, Feng; Zhang, Dongfeng;

    2013-01-01

    In 1998, the Qingdao Twin Registry was initiated as the main part of the Chinese National Twin Registry. By 2005, a total of 10,655 twin pairs had been recruited. Since then new twin cohorts have been sampled, with one longitudinal cohort of adolescent twins selected to explore determinants...... of metabolic disorders and health behaviors during puberty and young adulthood. Adult twins have been sampled for studying heritability of multiple phenotypes associated with metabolic disorders. In addition, an elderly twin cohort has been recruited with a focus on genetic studies of aging-related phenotypes...

  15. Twin Jet

    Science.gov (United States)

    Henderson, Brenda; Bozak, Rick

    2010-01-01

    Many subsonic and supersonic vehicles in the current fleet have multiple engines mounted near one another. Some future vehicle concepts may use innovative propulsion systems such as distributed propulsion which will result in multiple jets mounted in close proximity. Engine configurations with multiple jets have the ability to exploit jet-by-jet shielding which may significantly reduce noise. Jet-by-jet shielding is the ability of one jet to shield noise that is emitted by another jet. The sensitivity of jet-by-jet shielding to jet spacing and simulated flight stream Mach number are not well understood. The current experiment investigates the impact of jet spacing, jet operating condition, and flight stream Mach number on the noise radiated from subsonic and supersonic twin jets.

  16. Infantile Perineal Protrusion in Two Monochorionic Twins

    Directory of Open Access Journals (Sweden)

    Paola Cavicchioli

    2014-11-01

    Full Text Available Case Report - Two female monochorionic-monoamniotic twins showed the same kind of infantile perineal protrusion (IPP at birth. Lesions in both twins progressively healed until resolution in 6 weeks' time; none of the twins have manifested, till date, alvus disturbances. Discussion and Literature Review - A literature review numbers approximately 100 reports of IPP. This condition has been classically classified into three categories: congenital/familiar (i.e., female sex, positive parental history of IPP, acquired (mainly due to constipation, and associated with lichen sclerosus et atrophicus. Conclusions and Final Remarks - This case report describes, for the first time, the presence of IPP in monochorionic-monoamniotic twins, supporting the existence of hereditary/genetic factors in the developing of this condition.

  17. Resources and pilot results for establishing a Mongolian Twin Register.

    Science.gov (United States)

    Gombojav, Bayasgalan; Damdinbazar, Otgonbayar; Danshiitsoodol, Narandalai; Dagvasumberel, Gonchigsuren; Purevdorj, Erkhembulgan; Gombojav, Enkhtsetseg; Chuluunbaatar, Urjinbadam; Ochir, Chimedsuren; Ichinkhorloo, Purevdorj; Sung, Joohon

    2013-02-01

    Despite the need to provide evidence-based health policy, most developing countries suffer from a lack of resources for sound epidemiologic evidence. Most twin registers have been established in developed countries and there are relatively fewer twin registers in developing countries. Considering the immense potential of twin research, it will be worthwhile to attempt to establish a new twin register in Mongolia, where biomedical studies are still scarce. Our objectives were to initiate the process of establishing a nation-wide twin register in Mongolia, based on a nation-wide, population-based database. With the approval and support of the Ministry of Population Development and Social Welfare of Mongolia, we were able to access an initial list of 411 twin pairs who live in the district of Ulaanbaatar, the capital city of Mongolia. By developing a questionnaire to estimate zygosity, we conducted a pilot survey. Those who registered consisted of 822 individuals or 411 twin pairs (same sex: male - 178; female - 157; different sex - 76), two sets of triplets (same sex: female - 2). The age of twins ranged from 1 to 81 (mean age 7.3 ± 11.3), and 52.4% were males. The first twin survey in Mongolia not only resulted in interim data for the Mongolian Twin Register, but has the potential for establishing a larger register by using the national database. It has been proven possible to establish a twin register for research purposes in Mongolia.

  18. A study of the birth weight-obesity relation using a longitudinal cohort and sibling and twin pairs.

    Science.gov (United States)

    The, Natalie S; Adair, Linda S; Gordon-Larsen, Penny

    2010-09-01

    Sibling and twin study designs provide control for confounding factors that are typically unmeasured in traditional cohort studies. Using nationally representative data from the National Longitudinal Study of Adolescent Health collected at 3 visits during 1994-2002, the authors evaluated the longitudinal association between birth weight and later obesity in a traditional cohort study (n = 13,763; ages 11-21 years at baseline), controlling for sex, age, race/ethnicity, and parental education. Among persons with a nonobese mother, high birth weight (>4 kg) participants were more likely than normal birth weight (>/=2.5-the authors examined longitudinal within-pair differences. Birth weight difference was positively associated with body mass index difference later in life for female monozygotic pairs only (beta = 2.67, 95% confidence interval: 0.99, 4.35). Given the null associations observed in the sibling sample, the commonly observed positive association between birth weight and later obesity from cohort analyses may be attributed to confounding by maternal characteristics. Further research is needed to identify specific factors that contribute to the birth weight-obesity relation.

  19. Deformation twinning in monazite

    Energy Technology Data Exchange (ETDEWEB)

    Hay, R.S.; Marshall, D.B

    2003-10-20

    Polycrystalline monazite (LaPO{sub 4}) was deformed at room temperature by a spherical indenter. Deformation twins were identified by TEM in 70 grains. Five twin planes were found: (100) was by far the most common; (001) and (120) were less common; (122-bar)was rare, and kinks in (120) twins were identified as irrational '(483)' twin planes. The twinning modes on these planes were inferred from the expression of twinning shear at free surfaces, predictions of classical deformation twinning theory, and various considerations of twin morphology and crystal structure. Atomic shuffle calculations that allow formation of either a glide plane or a mirror plane at the twin interface were used to analyze twin modes. The inferred twin modes all have small atomic shuffles. For (001) twins, the smallest shuffles were obtained with a glide plane at the interface, with displacement vector R=((1)/(2))[010]. The results do not uniquely define a twin mode on (100), leaving open the possibility of more than one mode operating on this plane. Factors that may determine the operative deformation twinning modes are discussed. Crystal structure considerations suggest that the relative abundance of twinning modes may correlate with low shear modulus on the twin plane in the direction of twinning shear, and with a possible low-energy interface structure consisting of a layer of xenotime of one half-unit-cell thickness that could form at (100) and (001) twins. The three most common twins have low strains to low {sigma} coincidence site lattices (CSLs)

  20. Genetics and the environment affect the relationship between depression and low back pain: a co-twin control study of Spanish twins.

    Science.gov (United States)

    Pinheiro, Marina B; Ferreira, Manuela L; Refshauge, Kathryn; Colodro-Conde, Lucía; Carrillo, Eduvigis; Hopper, John L; Ordoñana, Juan R; Ferreira, Paulo H

    2015-03-01

    Although the co-occurrence of low back pain (LBP) and depression is common, the nature of this association remains unclear. We aimed to investigate whether symptoms of depression are associated with LBP after adjusting for various confounders, including genetics. We used cross-sectional data from 2148 twins from the Murcia Twin Registry, Spain. All twins answered questions about lifetime prevalence of LBP (outcome variable) and symptoms of depression, collected through two instruments, deriving 3 measures: (1) self-report feelings of depression and anxiety; (2) state depression, and (3) trait depression. First, associations were investigated using logistic regression analysis of the total sample. We performed subsequent matched within-pair twin case-control analyses with all complete twin pairs discordant for LBP regardless of zygosity, and separately for dizygotic and monozygotic pairs. This sequential analysis allows for more precise estimates of the relationship between variables, as in each step, the impact of early shared environment and genetics is further considered. Symptoms of depression and anxiety were associated with higher prevalence of LBP in the total sample analysis (odds ratio [OR], 1.64; 95% confidence interval [CI], 1.31-2.05), and this relationship was stronger in the subsequent case-control analysis (OR, 1.74; 95% CI, 1.13-2.69) and dizygotic case-control analysis (OR, 2.39; 95% CI, 1.39-4.08) but disappeared when the analysis was conducted for monozygotic twins (OR, 0.92; 95% CI, 0.42-2.05). A similar pattern was found for state and trait depression. The depression-LBP relationship disappears when high levels of control for confounding factors are applied and seems to be driven by genetic or environmental factors that influence both conditions.

  1. Twinning in muskox and the cytogenetic investigation of a freemartin

    Directory of Open Access Journals (Sweden)

    N. J. Reindl

    1993-12-01

    Full Text Available The occurrence of twinning has been documented for muskox in both wild and captive populations. Of two known captive twin births only one set survived beyond 120 days. In both cases the twins were male-female pairs and both females showed abnormal sexual development. Two sets of stillborn twins have also been recorded. All four stillborn fetuses were female and none showed anomalies of the reproductive tract upon post-mortem examination. Blood cultures from the surviving male and female twins revealed that both were chimeric, indicating the admixture of fetal blood. Fibroblast cultures were normal for the respective sex of each individual. The freemartin heifer had anatomical abnormalities of the clitoris as well as the secondary sex characteristics of a male.

  2. The Norwegian Twin Registry.

    Science.gov (United States)

    Nilsen, Thomas S; Brandt, Ingunn; Magnus, Per; Harris, Jennifer R

    2012-12-01

    Norway has a long-standing tradition in twin research, but the data collected in several population-based twin studies were not coordinated centrally or easily accessible to the scientific community. In 2009, the Norwegian Twin Registry was established at the Norwegian Institute of Public Health (NIPH) in Oslo with the purpose of creating a single research resource for Norwegian twin data. As of today, the Norwegian Twin Registry contains 47,989 twins covering birth years 1895-1960 and 1967-1979; 31,440 of these twins consented to participate in health-related research. In addition, DNA from approximately 4,800 of the twins is banked at the NIPH biobank and new studies are continually adding new data to the registry. The value of the Norwegian twin data is greatly enhanced by the linkage opportunities offered by Norway's many nationwide registries, spanning a broad array of medical, demographic, and socioeconomic information.

  3. Relative Genetic and Environmental Contributions to Variations in Human Retinal Electrical Responses Quantified in a Twin Study.

    Science.gov (United States)

    Bhatti, Taha; Tariq, Ambreen; Shen, Ting; Williams, Katie M; Hammond, Christopher J; Mahroo, Omar A

    2017-08-01

    To estimate heritability of parameters of human retinal electrophysiology and to explore which parameters change with age. Prospective, classic twin study. Adult monozygotic and dizygotic twin pairs recruited from the TwinsUK cohort. Electroretinogram responses were recorded using conductive fiber electrodes in response to stimuli incorporating standards set by the International Society for the Clinical Electrophysiology of Vision. These parameters were extracted; in addition, photopic negative-response (PhNR; originating from retinal ganglion cells) and i-wave components were extracted from responses to the photopic single flash. Parameter values were averaged from both eyes. Mean values were calculated for the cohort. Correlation coefficients with age were calculated (averaging parameters from both twins from each pair). Coefficients of intrapair correlation were calculated for monozygotic and dizygotic twins. Age-adjusted heritability estimates were derived using standard maximum likelihood structural equation twin modeling. Responses were recorded from 210 participants in total (59 monozygotic and 46 dizygotic twin pairs). Ninety-three percent were women. Mean age for the cohort was 62.4 years (standard deviation, 11.4 years). In general, response amplitudes correlated negatively, and implicit times positively, with age. Correlations were statistically significant (P 0.35) for the following parameters: scotopic standard and bright-flash a-wave implicit times, photopic 30-Hz flicker and single-flash b-wave implicit times, and PhNR and i-wave implicit times. Intrapair correlations were higher for monozygotic than dizygotic twins, suggesting important genetic influences. Age-adjusted estimates of heritability were significant for all parameters (except scotopic dim-flash b-wave implicit time), ranging from 0.34 to 0.85. Highest estimates were for photopic single-flash a-wave and b-wave amplitudes (0.84 and 0.85, respectively). This study explored heritability of

  4. [Hereditary phaeochromocytoma in twins].

    Science.gov (United States)

    Tóth, Géza; Patócs, Attila; Tóth, Miklós

    2016-08-01

    Phaeochromocytoma is a tumor of the catecholamine-producing cells of the adrenal gland. Extraadrenal phaeochromocytomas are frequently called paragangliomas. The majority of phaeochromocytomas are sporadic, however, about 25-30% are caused by genetic mutation. These tumor are frequently referred as hereditary phaeochromocytomas/paragangliomas. Their incidence increases continuously which can be attributed to availability of genetic examination and to the discovery of novel genes. The 47-year-old female patient underwent abdominal computed tomography which revealed bilateral adrenal gland enlargement. Abdominal magnetic resonance imaging, the 131-I- metaiodobenzylguanidine scintigraphy, urinary catecholamines and serum chomogranin A measurements confirmed the diagnosis of bilateral phaeochromocytomas. The genetically identical twin sister of the patient was also diagnosed with hormonally active bilateral phaechromocytoma, suggesting the genetic origin of phaeochromocytoma. Mutation screening confirmed a germline mutation of the transmembrane protein 127 tumorsupressor gene in both patients. Both patients underwent cortical-sparing adrenalectomy. The adrenal gland with the larger tumor was totally resected, while in the opposite side only the tumor was resected and a small part of the cortex was saved. After the operation urinary catecholamines and serum chromogranin A returned to normal in both patients. Adrenocortical deficiency was absent in the first patient, but her sister developed adrenal insufficiency requiring glucocorticoid replacement. To the best of the authors' knowledge phaeochromocytoma affecting twins has never been described earlier. Genetic examination performed in siblings confirmed the presence of the mutant gene through four generations. Orv. Hetil., 2016, 157(33), 1326-1330.

  5. Conjoined Twins: A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and Research

    Science.gov (United States)

    MUTCHINICK, OSVALDO M.; LUNA-MUÑOZ, LEONORA; AMAR, EMMANUELLE; BAKKER, MARIAN K.; CLEMENTI, MAURIZIO; COCCHI, GUIDO; DUTRA, MARIA DA GRAÇA; FELDKAMP, MARCIA L.; LANDAU, DANIELLE; LEONCINI, EMANUELE; LI, ZHU; LOWRY, BRIAN; MARENGO, LISA K.; MARTÍNEZ-FRÍAS, MARÍA-LUISA; MASTROIACOVO, PIERPAOLO; MÉTNEKI, JULIA; MORGAN, MARGERY; PIERINI, ANNA; RISSMAN, ANKE; RITVANEN, ANNUKKA; SCARANO, GIOACCHINO; SIFFEL, CSABA; SZABOVA, ELENA; ARTEAGA-VÁZQUEZ, JAZMÍN

    2015-01-01

    Conjoined twins (CT) are a very rare developmental accident of uncertain etiology. Prevalence has been previously estimated to be 1 in 50,000 to 1 in 100,000 births. The process by which monozygotic twins do not fully separate but form CT is not well understood. The purpose of the present study was to analyze diverse epidemiological aspects of CT, including the different variables listed in the Introduction Section of this issue of the Journal. The study was made possible using the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) structure. This multicenter worldwide research includes the largest sample of CT ever studied. A total of 383 carefully reviewed sets of CT obtained from 26,138,837 births reported by 21 Clearinghouse Surveillance Programs (SP) were included in the analysis. Total prevalence was 1.47 per 100,000 births (95% CI: 1.32–1.62). Salient findings including an evident variation in prevalence among SPs: a marked variation in the type of pregnancy outcome, a similarity in the proportion of CT types among programs: a significant female predominance in CT: particularly of the thoracopagus type and a significant male predominance in parapagus and parasitic types: significant differences in prevalence by ethnicity and an apparent increasing prevalence trend in South American countries. No genetic, environmental or demographic significant associated factors were identified. Further work in epidemiology and molecular research is necessary to understand the etiology and pathogenesis involved in the development of this fascinating phenomenon of nature. PMID:22002822

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

    Science.gov (United States)

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

    2006-06-15

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

  7. Understanding comorbidity: a twin study of reading disability and attention-deficit/hyperactivity disorder.

    Science.gov (United States)

    Willcutt, Erik G; Pennington, Bruce F; Olson, Richard K; DeFries, John C

    2007-09-05

    A community sample of twins in which at least one member of each pair exhibited significant reading difficulties (99 monozygotic and 80 dizygotic pairs) or symptoms of attention-deficit/hyperactivity disorder (ADHD; 83 monozygotic and 78 dizygotic pairs) was used to test the etiology of comorbidity between reading disability (RD) and ADHD. Univariate analyses revealed moderate to high heritability for all measures of reading difficulty and ADHD. Subsequent bivariate analyses indicated that the relation between reading difficulties and inattention symptoms is primarily attributable to common genetic influences, whereas bivariate heritability estimates were not significant for hyperactivity-impulsivity and any of the reading measures. Reading difficulties and ADHD symptoms were more highly heritable if the proband met criteria for both disorders versus RD or ADHD alone, suggesting that future molecular genetic analyses of comorbid RD + ADHD may facilitate the identification of susceptibility genes for RD, ADHD, and their comorbidity. Copyright 2007 Wiley-Liss, Inc.

  8. The Nature and Nurture of Melody: A Twin Study of Musical Pitch and Rhythm Perception.

    Science.gov (United States)

    Seesjärvi, Erik; Särkämö, Teppo; Vuoksimaa, Eero; Tervaniemi, Mari; Peretz, Isabelle; Kaprio, Jaakko

    2016-07-01

    Both genetic and environmental factors are known to play a role in our ability to perceive music, but the degree to which they influence different aspects of music cognition is still unclear. We investigated the relative contribution of genetic and environmental effects on melody perception in 384 young adult twins [69 full monozygotic (MZ) twin pairs, 44 full dizygotic (DZ) twin pairs, 70 MZ twins without a co-twin, and 88 DZ twins without a co-twin]. The participants performed three online music tests requiring the detection of pitch changes in a two-melody comparison task (Scale) and key and rhythm incongruities in single-melody perception tasks (Out-of-key, Off-beat). The results showed predominantly additive genetic effects in the Scale task (58 %, 95 % CI 42-70 %), shared environmental effects in the Out-of-key task (61 %, 49-70 %), and non-shared environmental effects in the Off-beat task (82 %, 61-100 %). This highly different pattern of effects suggests that the contribution of genetic and environmental factors on music perception depends on the degree to which it calls for acquired knowledge of musical tonal and metric structures.

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

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  10. Genetic factors account for most of the variation in serum tryptase-a twin study

    DEFF Research Database (Denmark)

    Sverrild, A.; van der Sluis, S.; Kyvik, K. O.;

    2013-01-01

    Background: Mast cells are involved in a number of diseases, including inflammatory diseases such as asthma. Tryptase is a known marker of mast cell burden and activity. However, little is known about the genetic influence on serum tryptase variation. Also, only few and conflicting data exist......) in a sample of Danish twins. Methods: A total of 575 twins underwent a skin prick test and had lung function, AHR to methacholine, exhaled nitric oxide and serum tryptase measured. Multiple regression and variance components models (using the statistical package SOLAR) were computed. Results: Serum tryptase...... values were available in 569 subjects. Intraclass correlations of serum tryptase in monozygotic and dizygotic twin pairs were 0.84 and 0.42 (P

  11. [The Murcia Twin Registry. A resource for research on health-related behaviour].

    Science.gov (United States)

    Ordoñana, Juan R; Sánchez Romera, Juan F; Colodro-Conde, Lucía; Carrillo, Eduvigis; González-Javier, Francisca; Madrid-Valero, Juan J; Morosoli-García, José J; Pérez-Riquelme, Francisco; Martínez-Selva, José M

    2017-03-08

    Genetically informative designs and, in particular, twin studies, are the most widely used methodology to analyse the relative contribution of genetic and environmental factors to inter-individual variability. These studies basically compare the degree of phenotypical similarity between monozygotic and dizygotic twin pairs. In addition to the traditional estimate of heritability, this kind of registry enables a wide variety of analyses which are unique due to the characteristics of the sample. The Murcia Twin Registry is population-based and focused on the analysis of health-related behaviour. The observed prevalence of health problems is comparable to that of other regional and national reference samples, which guarantees its representativeness. Overall, the characteristics of the Registry facilitate developing various types of research as well as genetically informative designs, and collaboration with different initiatives and consortia. Copyright © 2016 SESPAS. Publicado por Elsevier España, S.L.U. All rights reserved.

  12. Genetic and environmental interrelations between measurements of thyroid function in a healthy Danish twin population

    DEFF Research Database (Denmark)

    Hansen, Pia Skov; Brix, Thomas Heiberg; Iachine, Ivan

    2007-01-01

    in healthy euthyroid twins and to determine the extent to which the same genes influence more than one of these biochemical traits; 1,380 healthy euthyroid Danish twins (284 monozygotic, 286 dizygotic, 120 opposite-sex twin pairs) were recruited. Genetic and environmental associations between thyroid...... function measurements were examined using quantitative genetic modeling. In bivariate genetic models, the phenotypic relation between two measurements was divided into genetic and environmental correlations. Free T4 and free T3 levels were positively correlated (r=0.32, P... between serum free T4 and free T3 levels was rg=0.25 (95% CI 0.14-0.35), suggesting that a set of common genes affect both phenotypes (pleiotropy). The correlation between the environmental effects was re=0.41 (0.32-0.50). From this we calculated that the proportion of the correlation between free T4...

  13. The Role of Nature and Nurture for Individual Differences in Primary Emotional Systems: Evidence from a Twin Study.

    Directory of Open Access Journals (Sweden)

    Christian Montag

    Full Text Available The present study investigated for the first time the relative importance of genetics and environment on individual differences in primary emotionality as measured with the Affective Neuroscience Personality Scales (ANPS by means of a twin-sibling study design. In N = 795 participants (n = 303 monozygotic twins, n = 172 dizygotic twins and n = 267 non-twin full siblings, moderate to strong influences of genetics on individual differences in these emotional systems are observed. Lowest heritability estimates are presented for the SEEKING system (33% and highest for the PLAY system (69%. Further, multivariate genetic modeling was applied to the data showing that associations among the six ANPS scales were influences by both, a genetic as well as an environmental overlap between them. In sum, the study underlines the usefulness of the ANPS for biologically oriented personality psychology research.

  14. The Danish Twin Register

    DEFF Research Database (Denmark)

    Kyvik, K O; Christensen, Kaare; Skytthe, A;

    1996-01-01

    BACKGROUND: Population based twin registers represent a valuable tool for genetic epidemiological research, since twin studies aim at separating the effect of genes and environment for complex traits. The Danish Twin Register's history, size, ascertainment and completeness of data, as well as data...... accessibility and availability are described. RESULTS: The Danish Twin Register comprises 14,051 twin pairs born 1870-1930, representing all twins surviving to age six years, and 20,888 twin pairs born 1953-1982, representing 75% of those born 1953-1967 and 95% of those born 1968-1982. The birth cohorts 1931......-1952 og 1983-1993 are being ascertained at the moment. The register is available for research given certain conditions are fulfilled. CONCLUSION: This register will in a few years be the most comprehensive twin register in the world. It is a very valuable Danish research resource....

  15. The Danish Twin Register

    DEFF Research Database (Denmark)

    Kyvik, K O; Christensen, Kaare; Skytthe, A

    1996-01-01

    BACKGROUND: Population based twin registers represent a valuable tool for genetic epidemiological research, since twin studies aim at separating the effect of genes and environment for complex traits. The Danish Twin Register's history, size, ascertainment and completeness of data, as well as data...... accessibility and availability are described. RESULTS: The Danish Twin Register comprises 14,051 twin pairs born 1870-1930, representing all twins surviving to age six years, and 20,888 twin pairs born 1953-1982, representing 75% of those born 1953-1967 and 95% of those born 1968-1982. The birth cohorts 1931......-1952 og 1983-1993 are being ascertained at the moment. The register is available for research given certain conditions are fulfilled. CONCLUSION: This register will in a few years be the most comprehensive twin register in the world. It is a very valuable Danish research resource....

  16. A study of genetic and environmental contributions to structural brain changes over time in twins concordant and discordant for bipolar disorder.

    Science.gov (United States)

    Bootsman, F; Brouwer, R M; Schnack, H G; Kemner, S M; Hillegers, M H J; Sarkisyan, G; van der Schot, A C; Vonk, R; Hulshoff Pol, H E; Nolen, W A; Kahn, R S; van Haren, N E M

    2016-08-01

    This is the first longitudinal twin study examining genetic and environmental contributions to the association between liability to bipolar disorder (BD) and changes over time in global brain volumes, and global and regional measures of cortical surface area, cortical thickness and cortical volume. A total of 50 twins from pairs discordant or concordant for BD (monozygotic: 8 discordant and 3 concordant pairs, and 1 patient and 3 co-twins from incomplete pairs; dizygotic: 6 discordant and 2 concordant pairs, and 1 patient and 7 co-twins from incomplete pairs) underwent magnetic resonance imaging twice. In addition, 57 twins from healthy twin pairs (15 monozygotic and 10 dizygotic pairs, and 4 monozygotic and 3 dizygotic subjects from incomplete pairs) were also scanned twice. Mean follow-up duration for all twins was 7.5 years (standard deviation: 1.5 years). Data were analyzed using structural equation modeling software OpenMx. The liability to BD was not associated with global or regional structural brain changes over time. Although we observed a subtle increase in cerebral white matter in BD patients, this effect disappeared after correction for multiple comparisons. Heritability of brain changes over time was generally low to moderate. Structural brain changes appear to follow similar trajectories in BD patients and healthy controls. Existing brain abnormalities in BD do not appear to progressively change over time, but this requires additional confirmation. Further study with large cohorts is recommended to assess genetic and environmental influences on structural brain abnormalities in BD, while taking into account the influence of lithium on the brain. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. Heredity and environment in schizophrenia, revisited. The contribution of twin and high-risk studies.

    Science.gov (United States)

    Stabenau, J R; Pollin, W

    1993-05-01

    Life history study of monozygotic (MZ) twins discordant for schizophrenia led to the 1967 hypothesis that phenotypic schizophrenia was an expression of genotypic vulnerability interacting with prenatal and/or perinatal environmental experience. This report is a selected review of partial answers to five questions facing research efforts that have attempted to clarify the interactive gene-environment model of schizophrenia. Follow-up study of the offspring of MZ twins with a diagnosis of schizophrenia and their MZ co-twins without schizophrenia demonstrated equal rates of schizophrenia; hence, each group of offspring carried equal genetic vulnerability for schizophrenia. Magnetic resonance imaging study of MZ discordant twins found that phenotypic schizophrenia was characterized by brain ventricular enlargement and hippocampal reduction in 87-93% of the schizophrenic twins, when compared with their nonschizophrenic co-twins. A longitudinal study of teenage children at differential risk for schizophrenia showed that brain ventricular enlargement in adulthood correlated significantly and positively with genetic risk for schizophrenia and number of perinatal complications, and negatively with birth weight. Significantly greater dysmorphological hand skin signs among schizophrenic MZ twins when compared with their nonschizophrenic co-twins have suggested an in utero second trimester fetal developmental abnormality for the schizophrenic subjects. Simultaneous neuroanatomic, neurophysiological, and neurocognitive evaluation of MZ twin pairs discordant for schizophrenia demonstrated decreased prefrontal physiological cerebral blood flow activation during Wisconsin Card Sorting Test for affected twins correlated with decreased hippocampal volume determined by magnetic resonance imaging. These neurocognitive studies have suggested that schizophrenia involves neocortical-limbic pathology and dysfunction implicated in performance of cognitive tasks requiring working memory

  18. Genetic Influences on Reading Difficulties in Boys and Girls: The Colorado Twin Study

    Science.gov (United States)

    Hawke, Jesse L.; Wadsworth, Sally J.; DeFries, John C.

    2006-01-01

    To test the hypothesis that the genetic etiology for reading disability may differ in males and females, data from identical and fraternal twin pairs were analysed using both concordance and multiple regression methods. The sample included 264 identical (129 male, 135 female) and 214 same-sex fraternal (121 male, 93 female) twin pairs in which at…

  19. Cancer risk in opposite-sex and same-sex twins

    DEFF Research Database (Denmark)

    Juel Ahrenfeldt, Linda

    2015-01-01

    Twin pregnancies are characterized by simultaneous development of two fetuses that share the womb. An interest in opposite-sex (OS) twins, twin pairs consisting of one male and one female, comes from animal studies that showed that exposure to sex hormones is influenced by the position of the fetus...

  20. Influence of genetic and environmental factors on oral diseases and function in aged twins.

    Science.gov (United States)

    Kurushima, Y; Ikebe, K; Matsuda, K; Enoki, K; Ogata, S; Yamashita, M; Murakami, S; Hayakawa, K; Maeda, Y

    2015-01-01

    This study was conducted to quantify the genetic and environmental contributions to oral disease and function in twins. Participants were middle-aged and old twins, 116 monozygotic and 16 dizygotic pairs whose mean age was 66·1 ± 10·3 (SD) years. Number of teeth, percentage of decayed, filled and missing teeth and periodontal status were recorded as indicators of oral disease. The widths of upper and lower dental arch served as indicators of morphological figures. Furthermore, stimulated salivary flow rate, occlusal force and masticatory performance were measured as indicators of oral function. Univariate genetic analysis with monozygotic and dizygotic twin pairs was conducted to detect the fittest structural equation model of each outcome. Both number of teeth and periodontal status fitted the model composed of common environmental factor and unique environmental factor. Decayed, filled and missing teeth, morphological figures and measurements of oral function fitted the model composed of additive genetic factor and unique environmental factor. The model fitting of each measurement suggested that periodontal disease was mainly affected by environmental factors, while morphological figures and oral functions were influenced by both genetic and environmental factors.

  1. From alcohol initiation to tolerance to problems: Discordant twin modeling of a developmental process.

    Science.gov (United States)

    Deutsch, Arielle R; Slutske, Wendy S; Lynskey, Michael T; Bucholz, Kathleen K; Madden, Pamela A F; Heath, Andrew C; Martin, Nicholas G

    2017-08-01

    The current study examined a stage-based alcohol use trajectory model to test for potential causal effects of earlier drinking milestones on later drinking milestones in a combined sample of two cohorts of Australian monozygotic and same-sex dizygotic twins (N = 7,398, age M = 30.46, SD = 2.61, 61% male, 56% monozygotic twins). Ages of drinking, drunkenness, regular drinking, tolerance, first nontolerance alcohol use disorder symptom, and alcohol use disorder symptom onsets were assessed retrospectively. Ages of milestone attainment (i.e., age-of-onset) and time between milestones (i.e., time-to-event) were examined via frailty models within a multilevel discordant twin design. For age-of-onset models, earlier ages of onset of antecedent drinking milestones increased hazards for earlier ages of onset for more proximal subsequent drinking milestones. For the time-to-event models, however, earlier ages of onset for the "starting" milestone decreased risk for a shorter time period between the starting and the "ending" milestone. Earlier age of onset of intermediate milestones between starting and ending drinking milestones had the opposite effect, increasing risk for a shorter time period between the starting and ending milestones. These results are consistent with a causal effect of an earlier age of drinking milestone onset on temporally proximal subsequent drinking milestones.

  2. Aortic root dimensions are predominantly determined by genetic factors: a classical twin study

    Energy Technology Data Exchange (ETDEWEB)

    Celeng, Csilla; Kolossvary, Marton; Kovacs, Attila; Molnar, Andrea Agnes; Szilveszter, Balint; Karolyi, Mihaly; Jermendy, Adam L.; Karady, Julia; Merkely, Bela; Maurovich-Horvat, Pal [Semmelweis University, MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Budapest (Hungary); Horvath, Tamas [Budapest University of Technology and Economics, Department of Hydrodynamic Systems, Budapest (Hungary); Tarnoki, Adam D.; Tarnoki, David L. [Semmelweis University, Department of Radiology and Oncotherapy, Budapest (Hungary); Voros, Szilard [Global Genomics Group, Atlanta, GA (United States); Jermendy, Gyoergy [Bajcsy-Zsilinszky Hospital, Medical Department, Budapest (Hungary)

    2017-06-15

    Previous studies using transthoracic echocardiography (TTE) observed moderate heritability of aortic root dimensions. Computed tomography angiography (CTA) might provide more accurate heritability estimates. Our primary aim was to assess the heritability of the aortic root with CTA. Our secondary aim was to derive TTE-based heritability and compare this with the CTA-based results. In the BUDAPEST-GLOBAL study 198 twin subjects (118 monozygotic, 80 dizygotic; age 56.1 ± 9.4 years; 126 female) underwent CTA and TTE. We assessed the diameter of the left ventricular outflow tract (LVOT), annulus, sinus of Valsalva, sinotubular junction and ascending aorta. Heritability was assessed using ACDE model (A additive genetic, C common environmental, D dominant genetic, E unique environmental factors). Based on CTA, additive genetic effects were dominant (LVOT: A = 0.67, E = 0.33; annulus: A = 0.76, E = 0.24; sinus of Valsalva: A = 0.83, E = 0.17; sinotubular junction: A = 0.82, E = 0.18; ascending aorta: A = 0.75, E = 0.25). TTE-derived measurements showed moderate to no genetic influence (LVOT: A = 0.38, E = 0.62; annulus: C = 0.47, E = 0.53; sinus of Valsalva: C = 0.63, E = 0.37; sinotubular junction: C = 0.45, E = 0.55; ascending aorta: A = 0.67, E = 0.33). CTA-based assessment suggests that aortic root dimensions are predominantly determined by genetic factors. TTE-based measurements showed moderate to no genetic influence. The choice of measurement method has substantial impact on heritability estimates. (orig.)

  3. Accounting for the relationship between low education and dementia: a twin study.

    Science.gov (United States)

    Gatz, Margaret; Mortimer, James A; Fratiglioni, Laura; Johansson, Boo; Berg, Stig; Andel, Ross; Crowe, Michael; Fiske, Amy; Reynolds, Chandra A; Pedersen, Nancy L

    2007-09-10

    We evaluated whether the association between low education and greater risk of dementia is explained by genetic influences, using three different types of analyses. The HARMONY study (Swedish for "health" (Hälsa), "genes" (ARv), "environment" (Miljö), "and" (Och), and "new" (NY)) includes members of the Swedish Twin Registry who were aged 65 and older and alive in 1998, and who were screened and clinically assessed for dementia. There were 394 cases with dementia and 7786 unrelated controls. Analyses included co-twin control, tests for association between education and a measured genotype, and bivariate twin modeling. Low education was a significant risk factor for dementia both in case-control analyses (odds ratio=1.77, 95% confidence interval 1.38 to 2.28) and co-twin control analyses with monozygotic twin pairs (odds ratio=3.17, 95% confidence interval 1.26 to 7.93). Apolipoprotein E genotype was not associated with education and did not account for the relationship between education and dementia. Bivariate twin modeling showed that the association between education and dementia was not mediated by genetic influences in common between education and dementia. The association was mediated by shared environmental influences that were related to both dementia and to education. Low education is confirmed as a risk factor for dementia. Findings from three different analytic approaches showed that genetic influences did not explain this association.

  4. Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation.

    Science.gov (United States)

    Mayeur Le Bras, Anne; Petit, François; Benachi, Alexandra; Bedel, Bettina; Oucherif, Salima; Martinovic, Jelena; Armanet, Narjes; Tosca, Lucie; Gautier, Valérie; Parisot, Frédéric; Labrune, Philippe; Tachdjian, Gérard; Brisset, Sophie

    2016-04-01

    Monochorionic twins are generally considered as a monozygotic twin pregnancy. However, several cases of monochorial dizygotic twin pregnancies have been reported. We report on a rare case of monochorionic dizygotic twin pregnancy conceived after induced ovulation in a 32-year-old woman. The diagnosis was made on morphological ultrasound examination at 18+4 weeks of gestation, showing two fetuses with discordant sex. The amniocentesis was declined by the patient. The monochorionic status was confirmed after a histopathalogical study of the placenta. At delivery, both a phenotypically normal boy and a phenotypically normal girl without sexual abnormality were observed. This analysis also revealed the presence of vascular anastomoses between both fetal circulations. Postnatal cytogenetic analyses indicated the presence of a chimerism in peripheral blood lymphocytes. This chimerism was not observed in cells obtained from a buccal swab. Molecular determination of zygosity confirmed the existence of the confined peripheral blood chimerism with the presence of four parental alleles. We report on a case of monochorionic dizygotic twin pregnancy. This observation underlies the need to carefully assess twin pregnancies, especially when obtained after assisted reproductive technology. © 2016 Wiley Periodicals, Inc.

  5. Physical activity attenuates genetic effects on BMI: Results from a study of Chinese adult twins.

    Science.gov (United States)

    Wang, Biqi; Gao, Wenjing; Lv, Jun; Yu, Canqing; Wang, Shengfeng; Pang, Zengchang; Cong, Liming; Dong, Zhong; Wu, Fan; Wang, Hua; Wu, Xianping; Jiang, Guohong; Wang, Xiaojie; Wang, Binyou; Cao, Weihua; Li, Liming

    2016-03-01

    This study aimed to examine the gene-environment interaction of physical activity and body mass index (BMI) using the Chinese National Twin Registry (CNTR). A total of 19,308 same-sex adult twins from CNTR were included in the analysis. Twin zygosity was determined by self-reported questionnaire. Height and weight were measured using self-reported questionnaire. The vigorous physical activity was defined as greater or equal to five times a week of at least 30 min moderate- or high-intensity physical activity. A twin structural equation model was used to analyze the gene-environment interaction of vigorous exercise with BMI among 13,506 monozygotic twins and 5,802 dizygotic twins. A structural equation model adjusting for age and sex found vigorous exercise significantly moderated the additive genetic effects (P genetic contributions to BMI were significantly lower for people who adopted a physically active lifestyle [h(2) = 40%, 95% confidence interval (CI): 35%-46%] than those who were relative sedentary (h(2) = 59%, 95% CI: 52%-66%). The observed gene-physical activity interaction was more pronounced in men than women. Our results suggested that adopting a physically active lifestyle may help to reduce the genetic influence on BMI among the Chinese population. © 2016 The Obesity Society.

  6. Evidence for nonadditive genetic effects on Eysenck Personality Scales in South Korean twins.

    Science.gov (United States)

    Hur, Yoon-Mi

    2007-04-01

    While evidence supporting for nonadditive genetic influences on personality traits in Caucasian populations has been growing in recent years, twin studies that explored the existence of genetic nonadditivity in personality variation in Asian populations are still lacking. Seven hundred and sixty-five pairs of adolescent and young adult twins registered with the South Korean Twin Registry completed the 7 scales of the Eysenck Personality Scales through a mail survey. Maximum likelihood twin correlations were computed and model-fitting analyses were conducted. Monozygotic twin correlations were consistently higher than twice the dizygotic twin correlations for all 7 scales, suggesting pervasive influences of nonadditive genetic effects on personality traits in the South Korean population. Model-fitting analyses indicated that genetic nonadditivity is particularly important for the variation of Impulsivity, Venturesomeness, Empathy, Lie, and Psychoticism. According to the best fitting models, nonadditive genetic effects ranged from 34 to 49% for these scales. For Neuroticism and Extraversion, models that included an additive genetic component fit better than those including a nonadditive genetic variance component.

  7. Mirror imaging of impacted and supernumerary teeth in dizygotic twins: A case report.

    Science.gov (United States)

    Cassetta, Michele; Altieri, Federica; Giordano, Alessandra

    2015-02-01

    Mesiodens is the most common type of supernumerary tooth found in the premaxilla. It might be discovered by the clinical examination by chance on a radiograph or as the cause of an unerupted maxillary central incisor. The genetic transmission of supernumerary and impacted teeth is poorly understood. Mirror imaging in twins has been reported frequently in relation to several unilateral dental anomalies including mesiodens. This phenomenon is the appearance of an asymmetrical feature or anomaly occurring on the right side of one twin but on the left side of the other twin. The event of mesiodens mirror imaging in monozygotic twins has been described in literature. This is the first reported case of mesiodens mirror images in dizygotic twins. The de-scribed mesiodens caused the eruption failure of maxillary permanent incisors. The super-numerary teeth were removed to facilitate the spontaneous eruption of the impacted perma-nent maxillary incisors. Studies related to supernumerary teeth can be useful to clinicians in the early diagnosis of this anomaly. Clinical and radiographic examinations provide a correct therapeutic approach. Key words:Supernumerary teeth, twins, dental development.

  8. Diabetes and Obesity-Related Risks for Pelvic Reconstructive Surgery in a Cohort of Swedish Twins

    OpenAIRE

    Forsman, Mats; Iliadou, Anastasia; Magnusson, Patrik; Falconer, Christian; Altman, Daniel

    2008-01-01

    OBJECTIVE—To determine the diabetes- and obesity-related risks for surgically managed stress urinary incontinence and pelvic organ prolapse. RESEARCH DESIGN AND METHODS—This twin cohort study used the Swedish Twin Register to identify 8,443 female twin pairs born from 1926 through 1958. The association between diabetes and pelvic floor surgery was estimated while taking into account the correlated (twin) structure of the data. RESULTS—For type 1 and type 2 diabetes, no significant association...

  9. Advances in behavioral genetics modeling using Mplus: applications of factor mixture modeling to twin data.

    Science.gov (United States)

    Muthén, Bengt; Asparouhov, Tihomir; Rebollo, Irene

    2006-06-01

    This article discusses new latent variable techniques developed by the authors. As an illustration, a new factor mixture model is applied to the monozygotic-dizygotic twin analysis of binary items measuring alcohol-use disorder. In this model, heritability is simultaneously studied with respect to latent class membership and within-class severity dimensions. Different latent classes of individuals are allowed to have different heritability for the severity dimensions. The factor mixture approach appears to have great potential for the genetic analyses of heterogeneous populations. Generalizations for longitudinal data are also outlined.

  10. Relationships between state and trait anxiety inventory and alcohol use disorder identification test scores among Korean twins and families: the healthy twin study.

    Science.gov (United States)

    Sung, Joohon; Lee, Kayoung; Song, Yun-Mi; Kim, Ji-Hae

    2011-02-01

    We explored heritabilities of the State and Trait Anxiety Inventory (STAI) and the Alcohol Use Disorders Identification Test (AUDIT), and associations including genetic and environmental correlations between the phenotypes among Korean twins and their families. We analyzed the data of 1,748 participants (835 men, 913 women, 656 individuals of monozygotic twins, 173 individuals of same-sexed dizygotic twins, 919 non-twin family members, age 30-79 years) from the Healthy Twin study. Heritabilities and bivariate analyses were assessed using the SOLAR package software. In the methods of generalized estimation equations, women in the 4th quartile of state and trait scores were 17% and 15%, respectively more likely to be hazardous alcohol users compared to women in the lower three quartiles (P genetic correlation between the trait score and the AUDIT score, and a significant non-genetic correlation between the state score and the AUDIT score in women, while there were no significant genetic or non-genetic correlations between these phenotypes in men. The STAI and AUDIT scores are heritable in Koreans and the relationships between these phenotypes may be inconsistent by sex.

  11. The Roots of Autism and ADHD Twin Study in Sweden (RATSS).

    Science.gov (United States)

    Bölte, Sven; Willfors, Charlotte; Berggren, Steve; Norberg, Joakim; Poltrago, Lina; Mevel, Katell; Coco, Christina; Fransson, Peter; Borg, Jacqueline; Sitnikov, Rouslan; Toro, Roberto; Tammimies, Kristiina; Anderlid, Britt-Marie; Nordgren, Ann; Falk, Anna; Meyer, Urs; Kere, Juha; Landén, Mikael; Dalman, Christina; Ronald, Angelica; Anckarsäter, Henrik; Lichtenstein, Paul

    2014-06-01

    Neurodevelopmental disorders affect a substantial minority of the general population. Their origins are still largely unknown, but a complex interplay of genetic and environmental factors causing disturbances of the central nervous system's maturation and a variety of higher cognitive skills is presumed. Only limited research of rather small sample size and narrow scope has been conducted in neurodevelopmental disorders using a twin-differences design. The Roots of Autism and ADHD Twin Study in Sweden (RATSS) is an ongoing project targeting monozygotic twins discordant for categorical or dimensional autistic and inattentive/hyperactive-impulsive phenotypes as well as other neurodevelopmental disorders, and typically developing twin controls. Included pairs are 9 years of age or older, and comprehensively assessed for psychopathology, medical history, neuropsychology, and dysmorphology, as well as structural, functional, and molecular brain imaging. Specimens are collected for induced pluripotent (iPS) and neuroepithelial stem cells, genetic, gut bacteria, protein-/monoamine, and electron microscopy analyses. RATSS's objective is to generate a launch pad for novel surveys to understand the complexity of genotype-environment-phenotype interactions in autism spectrum disorder and attention-deficit hyperactivity disorder (ADHD). By October 2013, RATSS had collected data from 55 twin pairs, among them 10 monozygotic pairs discordant for autism spectrum disorder, seven for ADHD, and four for other neurodevelopmental disorders. This article describes the design, recruitment, data collection, measures, collected pairs' characteristics, as well as ongoing and planned analyses in RATSS. Potential gains of the study comprise the identification of environmentally mediated biomarkers, the emergence of candidates for drug development, translational modeling, and new leads for prevention of incapacitating outcomes.

  12. Effect of birth parameters on retinal vascular caliber: the Twins Eye Study in Tasmania.

    Science.gov (United States)

    Sun, Cong; Ponsonby, Anne-Louise; Wong, Tien Y; Brown, Shayne A; Kearns, Lisa S; Cochrane, Jenny; MacKinnon, Jane R; Ruddle, Jonathan B; Hewitt, Alex W; Liew, Gerald; Dwyer, Terence; Scurrah, Katrina; Mackey, David A

    2009-03-01

    Recent studies reported an association between smaller birth size and narrower retinal vascular caliber, but it remains unclear whether this association is attributed to confounding by shared environment or genetic factors. At a mean age of 9.3 years, 266 twins (49 monozygotic and 84 dizygotic pairs) in the Twins Eye Study in Tasmania underwent an ophthalmic examination including retinal photography. Retinal vascular caliber was measured using a validated protocol. The majority of these twins were also in the Tasmanian Infant Health Study, which prospectively collected data on birth parameters and antenatal maternal factors. We conducted the main analysis using linear mixed models, accounting for birth set clustering. Both the within-pair (-9.73; 95% CI: -14.68 to -4.77 microm per 5-cm decrease in birth length) and between-pair associations (-7.15; 95% CI: -11.54 to -3.01) with retinal arteriolar caliber were significant and of similar magnitude (difference in effect, P=0.61), after adjusting for age, sex, maternal smoking, mean arterial blood pressure, and other confounders. These associations remained within dizygotic and monozygotic pairs. Analyses of head circumference and retinal arteriolar caliber were similar to those of birth length (within-pair regression coefficient: -2.41; 95% CI: -5.09 to 0.28; between-pair regression coefficient: -2.60; 95% CI: -5.00 to -0.19). For birth weight, only a between-pair association was evident (-7.28; 95% CI: -13.07 to -1.48). This study demonstrates a consistent association between smaller birth size and narrower retinal arterioles in twins. The independent effect of shorter birth length on retinal arteriolar caliber supports a role for twin-specific supply line factors affecting fetal growth on vascular structure.

  13. Bruxism Is Associated With Nicotine Dependence: A Nationwide Finnish Twin Cohort Study

    Science.gov (United States)

    Ahlberg, J.; Hublin, C.; Broms, U.; Madden, P. A. F.; Könönen, M.; Koskenvuo, M.; Lobbezoo, F.; Kaprio, J.

    2010-01-01

    Objectives: To investigate the association of smoking with bruxism while controlling for genetic and environmental factors using a co-twin-control design. Especially, the role of nicotine dependence was studied in this context. Methods: The material derives from the Finnish Twin Cohort consisting of 12,502 twin individuals who responded to a questionnaire in 1990 (response rate of 77%). All were born in 1930–1957, the mean age being 44 years. The questionnaire covered 103 multiple choice questions, 7 dealing with tobacco use and 22 with sleep and vigilance matters, including perceived bruxism. In addition, a subsample derived from the Nicotine Addiction Genetics Finland Study containing 445 twin individuals was studied. Results: In age- and gender-controlled multinomial logistic regression, both monthly and rarely reported bruxism associated with both current cigarette smoking (odds ratio [OR] = 1.74 and 1.64) and former cigarette smoking (OR = 1.64 and 1.47). Weekly bruxism associated with current smoking (OR = 2.85). Current smokers smoking 20 or more cigarettes a day reported weekly bruxism more likely (OR = 1.61–1.97) than those smoking less. Among twin pairs (N = 142) in which one twin was a weekly bruxer and the cotwin a never bruxer, there were 13 monozygotic pairs in which one twin was a current smoker and the other twin was not. In all cases, the bruxer was the smoker (p = .0003). Nicotine dependence associated significantly with bruxism. Conclusions: Our twin study provides novel evidence for a possible causal link between tobacco use and bruxism among middle-aged adults. Nicotine dependence may be a significant predisposing factor for bruxism. PMID:21041838

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

    Science.gov (United States)

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

    2014-11-01

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

  15. Malaysian Twin Registry.

    Science.gov (United States)

    Jahanfar, Shayesteh; Jaffar, Sharifah Halimah

    2013-02-01

    The National Malaysian Twin Registry was established in Royal College of Medicine, Perak, University Kuala Lumpur (UniKL) in June 2008 through a grant provided by UniKL. The general objective is to facilitate scientific research involving participation of twins and their family members in order to answer questions of health and wellbeing relevant to Malaysians. Recruitment is done via mass media, poster, and pamphlets. We now have 266 adult and 204 children twins registered. Several research projects including reproductive health study of twins and the role of co-bedding on growth and development of children are carried out. Registry holds annual activities for twins and seeks to provide health-related information for twins. We seek international collaboration.

  16. Magnetic resonance study of lumbar disks in female dancers.

    Science.gov (United States)

    Capel, Antonio; Medina, Fernando Santonja; Medina, Daniel; Gómez, Sebastian

    2009-06-01

    Previous imaging studies have shown that degenerative disk disease is more common in the competitive female gymnast than in asymptomatic nonathletic people of the same age training to any degree. However, results of exposure-discordant monozygotic and classic twin studies suggest that physical loading specific to occupation and sport has a relatively minor role in disk degeneration, beyond that of upright postures and routine activities of daily living. Intensive, regular, and prolonged dancing causes strain on the lumbar spine and can trigger or accelerate the development of degenerative diskopathy. Cross-sectional study; Level of evidence, 3. Forty volunteer female dancers (20 ballet and 20 flamenco) aged between 18 and 31 years (mean = 24.2) underwent magnetic resonance imaging of the lumbar spine. They were compared against a control group of 20 women of the same age. A descriptive analysis was done, and the 2 groups were compared by contingency table analysis using the Pearson chi-square test complemented by an analysis of residuals. Results Nine of the 20 women (45%) in the control group had disk degeneration compared with 13 of the 40 (32.5%) women in the dancer group, with a chi-square of 0.897 (not significant). There were 12 degenerated disks of the 100 explored (12%) in the control group compared with 21 of the 200 explored (10.5%) in the dancer group (chi-square = 0.153; not significant). Dancing cannot be considered a risk factor for lumbar disk degeneration in women. The present study indicates that dancing has no negative effect on the development of degenerative diskopathy.

  17. Perinatal hepatic infarction in twin-twin transfusion.

    LENUS (Irish Health Repository)

    O'Sullivan, M J

    2012-02-03

    We report a case of a twin pregnancy which was complicated by a twin-twin transfusion in which the recipient twin was noted to have an intra-abdominal echogenic mass. This twin died at two days of age of hepatic infarction. The donor twin was healthy at birth, at thirty weeks\\' gestation, and did not have any subsequent problems. Fetal intra-abdominal echogenicity may be a marker of hepatic infarction.

  18. The Brazilian Twin Registry.

    Science.gov (United States)

    Ferreira, Paulo H; Oliveira, Vinicius C; Junqueira, Daniela R; Cisneros, Lígia C; Ferreira, Lucas C; Murphy, Kate; Ordoñana, Juan R; Hopper, John L; Teixeira-Salmela, Luci F

    2016-12-01

    The Brazilian Twin Registry (BTR) was established in 2013 and has impelled twin research in South America. The main aim of the initiative was to create a resource that would be accessible to the Brazilian scientific community as well as international researchers interested in the investigation of the contribution of genetic and environmental factors in the development of common diseases, phenotypes, and human behavior traits. The BTR is a joint effort between academic and governmental institutions from Brazil and Australia. The collaboration includes the Federal University of Minas Gerais (UFMG) in Brazil, the University of Sydney and University of Melbourne in Australia, the Australian Twin Registry, as well as the research foundations CNPq and CAPES in Brazil. The BTR is a member of the International Network of Twin Registries. Recruitment strategies used to register twins have been through participation in a longitudinal study investigating genetic and environmental factors for low back pain occurrence, and from a variety of sources including media campaigns and social networking. Currently, 291 twins are registered in the BTR, with data on demographics, zygosity, anthropometrics, and health history having been collected from 151 twins using a standardized self-reported questionnaire. Future BTR plans include the registration of thousands of Brazilian twins identified from different sources and collaborate nationally and internationally with other research groups interested on twin studies.

  19. Delivery in Twin Gestation

    Directory of Open Access Journals (Sweden)

    Mark T. Peters

    1995-01-01

    Full Text Available Objective: The objective of this study was to determine whether prophylactic treatment with oral broad-spectrum antimicrobial therapy improves pregnancy outcomes in twin gestations.

  20. Longitudinal genetic effects on mandibular position of female twins from six to twelve years old%6~12岁女性儿童下颌位置遗传作用的纵向分析

    Institute of Scientific and Technical Information of China (English)

    朱常锋; 彭静

    2013-01-01

    Objective To find the longitudinal genetic effects on mandibular position in mixed dentition.Methods 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.Results Statistical comparisons revealed significant (P<0.05) environmental effects on the angles (ArGo'Me,SArGo',SN-MP,FH-MP,PP-MP),the depths (L1,L2,L3),and the heights (H1,H3) of mandibular;whilst genetic effects on the angle(NSAr) and the heights(H1,H2,H3,H4)(P<0.05); and family inheritance effects can be founded in the angles (ArGo ' Me,SN-MP,NSGn,SGn-FH)(P<0.05).Condusion The effect of inheritance on mandibular position is strong,while environmental impact is relatively weak.Stronger genetic influence on heights is shown than that on depths.The environmental influence on depths and heights is different.Using Ba as a reference,the depth of the chin 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.%目的 研究混合牙列期下颌位置遗传作用的纵向变化规律.方法 测量89对北京地区双生子女童的头颅侧位片.采用混合纵向观察法,最终得到183对有效双生子对数,其中同卵110对,异卵73对;利用双生子研究法对下颌位置作遗传和环境作用的纵向统计分析.结果 下颌角度ArGo’Me、SAr

  1. Traits of ADHD and autism in girls with a twin brother: a Mendelian randomization study

    DEFF Research Database (Denmark)

    Attermann, Jorn; Obel, Carsten; Bilenberg, Niels

    2012-01-01

    It has been hypothesized that prenatal exposure to testosterone may be associated with traits of attention-deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD). We conducted a population-based study of dizygotic female twins to elucidate this hypothesis, assuming that the sex...... in females. In conclusion, we found that female twins with a twin brother scored significantly lower in parent-reported traits of ADHD and ASD than those with a twin sister. The reason for this may be parental reporting bias, or confounding by unmeasured variables, or a causal effect of an intrauterine...

  2. Genetic Factors Explain Variation in the Age at Onset of Psoriasis: A Population-based Twin Study.

    Science.gov (United States)

    Lønnberg, Ann Sophie; Skov, Lone; Duffy, David Lorenzo; Skytthe, Axel; Kyvik, Kirsten Ohm; Pedersen, Ole Birger; Thomsen, Simon Francis

    2016-01-01

    The aim of this study was to determine the age at onset of psoriasis in a population-based twin sample. Questionnaire-data in 10,725 twin pairs, 20-71 years of age, from the Danish Twin Registry, was collected, and analysed using survival regression analysis. Median age at onset was 25 and 28 years among women and men, respectively. The correlation between the ages was 0.84 (bootstrap standard error?=?0.044) in monozygotic twin pairs and 0.60 (0.051) in dizygotic twin pairs, permutation p?=?0.001. Age at onset of psoriasis in the index twin did not predict risk of psoriasis in the co-twin, hazard ratio (per year of later onset =?1.01 (0.99-1.03), p?=?0.434. In conclusion, these data support that the age at onset of psoriasis is, in part, an inherited property. Our results do not support that early-onset psoriasis is more genetically determined.

  3. Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics.

    Science.gov (United States)

    Cardno, A G; Gottesman, I I

    2000-01-01

    Twin studies have been vital for establishing an important genetic contribution to the etiology of schizophrenia. The five newest studies since 1995 from Europe and Japan have confirmed earlier findings. They yielded probandwise concordance rates of 41-65% in monozygotic (MZ) pairs and 0-28% in dizygotic (DZ) pairs, and heritability estimates of approximately 80-85%. Twin studies are also valuable for investigating the etiological relationships between schizophrenia and other disorders, and the genetic basis of clinical heterogeneity within schizophrenia. Studies of discordant MZ pairs provide further insights into non-inherited factors that contribute to the multifactorial etiology of this disorder. More recently, twin studies have begun to be used to directly investigate molecular genetic and epigenetic processes underlying schizophrenia.

  4. A Chaotic Home Environment Accounts for the Association between Respect for Rules Disposition and Reading Comprehension: A Twin Study.

    Science.gov (United States)

    Taylor, Jeanette; Hart, Sara A

    2014-10-01

    This study examined the association between socioemotional dispositions from the developmental propensity model and reading comprehension and whether those associations could be accounted for by level of chaos in the home. Data from 342 monozygotic and 333 same-sex dizygotic twin pairs age 7-13 years were used. A parent rated the twins on sympathy, respect for rules, negative emotionality, and daring and level of chaos in the twins' home. Reading comprehension was measured using a state-wide school assessment. Only respect for rules significantly and uniquely predicted reading comprehension. Biometric models indicated that respect for rules was positively associated with reading comprehension via the shared environment and home chaos accounted for a significant amount of that shared environmental variance even after controlling for family income. Children with higher respect for rules have better reading comprehension scores in school and this relationship owes partly to the level of chaos in the family home.

  5. Diagnóstico pré-natal de um gêmeo hemiacárdico: relato de caso Prenatal diagnosis of hemiacardiac twin: a case report

    Directory of Open Access Journals (Sweden)

    Júlio A. G. Alves

    1998-03-01

    Full Text Available A síndrome de acardia fetal é uma rara complicação de gestações gemelares monozigóticas, ocorrendo uma vez em cada 35.000 partos. O prognóstico é fatal para todos gêmeos acárdicos e para 50-75% dos gêmeos normais. Neste trabalho é apresentado um caso de hemiacardia fetal (acardia parcial em gravidez gemelar. O diagnóstico foi feito utilizando-se ultra-sonografia, ecocardiografia fetal e foi confirmado após o parto.The acardius syndrome is a rare complication of monozygotic twin pregnancies, occurring once in 35.000 births. The outcome is invariably fatal for the acardiac twin and for 50-75% of the normal twins. We report a case of partial (pseudoacardia in twin pregnancy. The diagnosis was made using ultrasonography, fetal echocardiography and confirmed after delivery.

  6. Genetic and environmental influences on the continuous scales of the Myers-Briggs Type Indicator: an analysis based on twins reared apart.

    Science.gov (United States)

    Bouchard, T J; Hur, Y M

    1998-04-01

    The Myers-Briggs Type Indicator was administered to a sample of 61 monozygotic twins reared apart (MZA), 49 dizygotic twins reared apart (DZA), and 92 spouses, who participated in the Minnesota Study of Twins Reared Apart (MISTRA) from 1979 to 1995. Twins' scores on the continuous scales were subjected to behavior genetic model-fitting procedures. Extraversion-Introversion and Thinking-Feeling yielded heritabilities of about .60, consisting largely of nonadditive genetic variance. Sensing-Intuition and Judgment-Perception yielded heritabilities of about .40, consisting largely of additive genetic variance. Spouse correlations for three of the four scales were near zero and not statistically significant; one spouse correlation (Sensing-Intuition) was modestly positive and statistically significant.

  7. Impact of the Xba1-polymorphism of the human muscle glycogen synthase gene on parameters of the insulin resistance syndrome in a Danish twin population

    DEFF Research Database (Denmark)

    Fenger, M; Poulsen, P; Beck-Nielsen, H;

    2000-01-01

    : The Xba1-polymorphism of the human muscle glycogen synthase gene is correlated to insulin resistance and to diastolic blood pressure. The polymorphism does not involve any known transcription factor or any structural change in GYS1, and these correlations are therefore most probably caused by linkage......AIMS: To establish the impact on the insulin resistance syndrome of the intron 14 Xba1-polymorphism in human muscle glycogen synthase (GYS1). METHODS: Parameters related to the insulin resistance syndrome were measured in 244 monozygotic twins and 322 dizygotic twins with or without impaired...... and the remainder had the genotype A1A2. No A2A2-genotypes were detected. In 11 genotypic discordant dizygotic twin pairs the insulin resistance was significantly increased in the twins carrying the A1A2 genotype regardless of sex (HOMA index 1.81 (A1A1) vs. 2.57 (A1A2), P

  8. Cancer risk in opposite-sex and same-sex twins

    DEFF Research Database (Denmark)

    Juel Ahrenfeldt, Linda

    2015-01-01

    Twin pregnancies are characterized by simultaneous development of two fetuses that share the womb. An interest in opposite-sex (OS) twins, twin pairs consisting of one male and one female, comes from animal studies that showed that exposure to sex hormones is influenced by the position of the fetus...... in the womb. Studies in rodents have shown that female fetuses developing between males are masculinized in several anatomical, physiological and behavioral traits....

  9. Paternal age and twinning in the Jerusalem Perinatal Study

    Science.gov (United States)

    Kleinhaus, Karine; Perrin, Mary C.; Manor, O; Friedlander, Yehiel; Calderon-Margalit, Ronit; Harlap, Susan; Malaspina, Dolores

    2008-01-01

    Objective To investigate whether incidence of twin deliveries is related to father's age, independently of mother's age, and whether it differs for same-sex or opposite-sex twin sets. Study Design In a program of research on effects of paternal age, this study used data from a prospective cohort of 92,408 offspring born in Jerusalem from 1964-1976. Of the 91,253 deliveries in the Jerusalem Perinatal Study, 1,115 were twin deliveries. The data were analyzed with General Estimate Equations to inform unconditional logistic regression. Results After controlling for maternal age, Odds Ratios (OR) and 95% Confidence Intervals (95% CI) associated with father's ages 25-34 and 35+ were 1.3 (1.1, 1.7) and 1.5 (1.2, 2.1) respectively, compared with fathers <25 years old. The effect of maternal age was partly explained by paternal age. The ORs for opposite-sex twin sets and male-male twin sets increased slightly with paternal age, while the OR for same-sex and female-female twin decreased. Conclusion Studies of twins are used to estimate effects of genes and environment in a variety of diseases. Our findings highlight the need to consider paternal as well as maternal age when analyzing data on twins to explore etiology of diseases. PMID:18771839

  10. Twin anemia polycythemia sequence

    NARCIS (Netherlands)

    Slaghekke, Femke

    2014-01-01

    In this thesis we describe that Twin Anemia Polycythemia Sequence (TAPS) is a form of chronic feto-fetal transfusion in monochorionic (identical) twins based on a small amount of blood transfusion through very small anastomoses. For the antenatal diagnosis of TAPS, Middle Cerebral Artery – Peak Syst

  11. The Danish Twin Registry

    DEFF Research Database (Denmark)

    Skytthe, Axel; Ohm Kyvik, Kirsten; Vilstrup Holm, Niels

    2011-01-01

    Introduction: The Danish Twin Registry is a unique source for studies of genetic, familial and environmental factors on life events, health conditions and diseases. Content: More than 85,000 twin pairs born 1870-2008 in Denmark. Validity and coverage: Four main ascertainment methods have been emp...

  12. Twin anemia polycythemia sequence

    NARCIS (Netherlands)

    Slaghekke, Femke

    2014-01-01

    In this thesis we describe that Twin Anemia Polycythemia Sequence (TAPS) is a form of chronic feto-fetal transfusion in monochorionic (identical) twins based on a small amount of blood transfusion through very small anastomoses. For the antenatal diagnosis of TAPS, Middle Cerebral Artery – Peak

  13. Cohort Profile: Swedish Twin Study on Prediction and Prevention of Asthma (STOPPA).

    Science.gov (United States)

    Almqvist, Catarina; Örtqvist, Anne K; Ullemar, Vilhelmina; Lundholm, Cecilia; Lichtenstein, Paul; Magnusson, Patrik K E

    2015-06-01

    Asthma is a common childhood disease and several risk factors have been identified; however, the impact of genes and environment is not fully understood. The aim of the Swedish Twin study On Prediction and Prevention of Asthma (STOPPA) is to identify environmental (birth characteristics and early life) and genetic (including epigenetic) factors as determinants for asthmatic disease. Based on the Child and Adolescent Twin Study in Sweden (CATSS) (parental interview at 9 or 12 years, N ~23,900) and an asthma and/or wheezing algorithm, we identified a sample of monozygotic (MZ) and dizygotic (DZ) same-sexed twin pairs. The twin pairs were classified as asthma concordant (ACC), asthma discordant (ADC) and healthy concordant (HCC). A sample of 9- to 14-year-old twins and their parents were invited to participate in a clinical examination. Background characteristics were collected in questionnaires and obtained from the National Health Registers. A clinical examination was performed to test lung function and capacity (spirometry with reversibility test and exhaled nitric oxide) and collect blood (serology and DNA), urine (metabolites), feces (microbiota), and saliva (cortisol). In total, 376 twin pairs (752 individual twins) completed the study, response rate 52%. All participating twins answered the questionnaire and >90% participated in lung function testing, blood-, and saliva sampling. This article describes the design, recruitment, data collection, measures, and background characteristics, as well as ongoing and planned analyses in STOPPA. Potential gains of the study include the identification of biomarkers, the emergence of candidates for drug development, and new leads for prevention of asthma and allergic disease.

  14. Genetic and environmental influences on sleep quality in middle-aged men: a twin study.

    Science.gov (United States)

    Genderson, Margo R; Rana, Brinda K; Panizzon, Matthew S; Grant, Michael D; Toomey, Rosemary; Jacobson, Kristen C; Xian, Hong; Cronin-Golomb, Alice; Franz, Carol E; Kremen, William S; Lyons, Michael J

    2013-10-01

    Poor sleep quality is a risk factor for a number of cognitive and physiological age-related disorders. Identifying factors underlying sleep quality are important in understanding the etiology of these age-related health disorders. We investigated the extent to which genes and the environment contribute to subjective sleep quality in middle-aged male twins using the classical twin design. We used the Pittsburgh Sleep Quality Index to measure sleep quality in 1218 middle-aged twin men from the Vietnam Era Twin Study of Aging (mean age = 55.4 years; range 51-60; 339 monozygotic twin pairs, 257 dizygotic twin pairs, 26 unpaired twins). The mean PSQI global score was 5.6 [SD = 3.6; range 0-20]. Based on univariate twin models, 34% of variability in the global PSQI score was due to additive genetic effects (heritability) and 66% was attributed to individual-specific environmental factors. Common environment did not contribute to the variability. Similarly, the heritability of poor sleep-a dichotomous measure based on the cut-off of global PSQI>5-was 31%, with no contribution of the common environment. Heritability of six of the seven PSQI component scores (subjective sleep quality, sleep latency, sleep duration, habitual sleep efficiency, sleep disturbances, and daytime dysfunction) ranged from 0.15 to 0.31, whereas no genetic influences contributed to the use of sleeping medication. Additive genetic influences contribute to approximately one-third of the variability of global subjective sleep quality. Our results in middle-aged men constitute a first step towards examination of the genetic relationship between sleep and other facets of aging. © 2013 European Sleep Research Society.

  15. Maternal serum steroid levels are unrelated to fetal sex: a study in twin pregnancies.

    NARCIS (Netherlands)

    Cohen-Bendahan, C.C.; Goozen, S.H. van; Buitelaar, J.K.; Cohen-Kettenis, P.T.

    2005-01-01

    Increased prenatal exposure to testosterone (T) in females of an opposite-sex (OS) twin pair may have an effect on the development of sex-typical cognitive and behavioral patterns. The prenatal exposure to T due to hormone transfer in OS twin females may occur in two ways, one directly via the feto-

  16. Lung cancer, genetic predisposition and smoking: the Nordic Twin Study of Cancer

    DEFF Research Database (Denmark)

    Hjelmborg, Jacob v. B.; Korhonen, Tellervo; Holst, Klaus;

    2016-01-01

    Background: We aimed to disentangle genetic and environmental causes in lung cancer while considering smoking status. Methods: Four Nordic twin cohorts (43 512 monozygotic (MZ) and 71 895 same sex dizygotic (DZ) twin individuals) had smoking data before cancer diagnosis. We used time...... for lung cancer, nearly all were current smokers at baseline and only one concordant pair was seen among never smokers. Among ever smokers, the case-wise concordance of lung cancer, that is the risk before a certain age conditional on lung cancer in the co-twin before that age, was significantly increased...... pairs. Among smoking discordant pairs, the pairwise HR for lung cancer of the ever smoker twin compared to the never smoker co-twin was 5.4 (95% CI 2.1 to 14.0) in MZ pairs and 5.0 (95% CI 3.2 to 7.9) in DZ pairs. Conclusions: The contribution of familial effects appears to decrease by age...

  17. Familial resemblance in religiousness in a secular society: a twin study.

    Science.gov (United States)

    Hvidtjørn, Dorte; Petersen, Inge; Hjelmborg, Jacob; Skytthe, Axel; Christensen, Kaare; Hvidt, Niels C

    2013-04-01

    It is well known that human behavior and individual psychological traits are moderately to substantially heritable. Over the past decade, an increasing number of studies have explored the genetic and environmental influence on religiousness. These studies originate predominantly from countries generally considered more religious than the very secular northern European countries. Comparisons of the results are complicated by diverse definitions of religiousness, but several studies indicate that the influence of the family environment is most predominant in early life, whereas genetic influences increase with age. We performed a population-based twin study of religiousness in a secular society using data from a Web-based survey sent to 6,707 Danish twins born 1970-1989, who were identified in the Danish Twin Registry. We applied Fishman's three conceptual dimensions of religiousness: cognition, practice, and importance. In all polygenic models and biometric analyses, we controlled for gender and age. The study sample comprised 2,237 same sex twins, a response rate of 45%. We found high correlations within both monozygotic and dizygotic twin pairs in most items of religiousness, indicating a large influence from shared environmental factors. Personal religiousness such as praying to God, believing in God, and finding strength and comfort in religion were more influenced by genetic factors than were social forms of religiousness such as church attendance. We found a small tendency for increasing genetic influence with increasing age for some religious items, but not for all.

  18. Lung cancer, genetic predisposition and smoking: the Nordic Twin Study of Cancer

    DEFF Research Database (Denmark)

    Hjelmborg, Jacob v. B.; Korhonen, Tellervo; Holst, Klaus

    2016-01-01

    Background: We aimed to disentangle genetic and environmental causes in lung cancer while considering smoking status. Methods: Four Nordic twin cohorts (43 512 monozygotic (MZ) and 71 895 same sex dizygotic (DZ) twin individuals) had smoking data before cancer diagnosis. We used time...... for lung cancer, nearly all were current smokers at baseline and only one concordant pair was seen among never smokers. Among ever smokers, the case-wise concordance of lung cancer, that is the risk before a certain age conditional on lung cancer in the co-twin before that age, was significantly increased...... pairs. Among smoking discordant pairs, the pairwise HR for lung cancer of the ever smoker twin compared to the never smoker co-twin was 5.4 (95% CI 2.1 to 14.0) in MZ pairs and 5.0 (95% CI 3.2 to 7.9) in DZ pairs. Conclusions: The contribution of familial effects appears to decrease by age...

  19. Abnormal N400 Semantic Priming Effect May Reflect Psychopathological Processes in Schizophrenia: A Twin Study

    Directory of Open Access Journals (Sweden)

    Anuradha Sharma

    2017-01-01

    Full Text Available Objective. Activation of semantic networks is indexed by the N400 effect. We used a twin study design to investigate whether N400 effect abnormalities reflect genetic/trait liability or are related to psychopathological processes in schizophrenia. Methods. We employed robust linear regression to compare N400 and behavioral priming effects across 36 monozygotic twin pairs (6 pairs concordant for schizophrenia/schizoaffective disorder, 11 discordant pairs, and 19 healthy control pairs performing a lexical decision task. Moreover, we examined the correlation between Brief Psychiatric Rating Scale (BPRS score and the N400 effect and the influence of medication status on this effect. Results. Regression yielded a significant main effect of group on the N400 effect only in the direct priming condition (p=0.003. Indirect condition and behavioral priming effect showed no significant effect of group. Planned contrasts with the control group as a reference group revealed that affected concordant twins had significantly reduced N400 effect compared to controls, and discordant affected twins had a statistical trend for reduced N400 effect compared to controls. The unaffected twins did not differ significantly from the controls. There was a trend for correlation between reduced N400 effect and higher BPRS scores, and the N400 effect did not differ significantly between medicated and unmedicated patients. Conclusions. Reduced N400 effect may reflect disease-specific processes in schizophrenia implicating frontotemporal brain network in schizophrenia pathology.

  20. Social activity and healthy aging: a study of aging Danish twins.

    Science.gov (United States)

    McGue, Matt; Christensen, Kaare

    2007-04-01

    Although social and intellectual engagement have been consistently associated with late-life functioning, rather than true causation, these associations may reflect the experiential choices of high functioning individuals (i.e., selection effects). We investigated the association of social activity with late-life physical functioning, cognitive functioning, and depression symptomatology using data from 1112 pairs of like-sex twins who participated in the Longitudinal Study of Aging Danish Twins. Consistent with previous research, we found that social activity was significantly correlated with overall level of physical functioning, cognitive functioning, and depression symptomatology. We also found that social activity was significantly and moderately heritable (estimate of .36), raising the possibility that its association with late-life functioning might reflect selection processes. Further, social activity did not predict change in functioning and in monozygotic twin pairs discordant on level of social activity, the more socially active twin was not less susceptible to age decreases in physical and cognitive functioning and increases in depression symptomatology than the less socially active twin. These results are interpreted in the context of the additional finding that nonshared environmental factors, although apparently not social activity, are the predominant determinant of changes in late-life functioning.

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

    DEFF Research Database (Denmark)

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

    2011-01-01

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

  2. Longitudinal Associations Among Reading-Related Skills and Reading Comprehension: A Twin Study.

    Science.gov (United States)

    Erbeli, Florina; Hart, Sara A; Taylor, Jeanette

    2017-06-01

    This study investigated the etiology of longitudinal relations among kindergarten prereading skills, first-grade word level reading skills, and seventh-grade reading comprehension in 265 monozygotic and 459 dizygotic twin pairs (Mage  = 6.29 years in kindergarten) from the Florida Twin Project on Reading. Using a quadvariate Cholesky decomposition, results showed genetic, shared, and nonshared environmental overlap among prereading skills, word level reading skills, and reading comprehension. In addition, genetic and shared environmental overlap was indicated among word level reading skills and reading comprehension, outside the influence of prereading skills. After accounting for overlapping, there remained moderate genetic and nonshared environmental influence specific to reading comprehension. Implications for reading education are discussed. © 2017 The Authors. Child Development © 2017 Society for Research in Child Development, Inc.

  3. Genetic and environmental influence on DNA strand break repair: a twin study

    DEFF Research Database (Denmark)

    Garm, Christian; Moreno-Villanueva, Maria; Bürkle, Alexander

    2013-01-01

    factors are likely to influence DNA repair capacity. In order to gain more insight into the genetic and environmental contribution to the molecular basis of DNA repair, we have performed a human twin study, where we focused on the consequences of some of the most abundant types of DNA damage (single......Accumulation of DNA damage deriving from exogenous and endogenous sources has significant consequences for cellular survival, and is implicated in aging, cancer, and neurological diseases. Different DNA repair pathways have evolved in order to maintain genomic stability. Genetic and environmental......-strand breaks), and some of the most hazardous lesions (DNA double-strand breaks). DNA damage signaling response (Gamma-H2AX signaling), relative amount of endogenous damage, and DNA-strand break repair capacities were studied in peripheral blood mononuclear cells from 198 twins (94 monozygotic and 104...

  4. Academic performance of opposite-sex and same-sex twins in adolescence

    DEFF Research Database (Denmark)

    Juel Ahrenfeldt, Linda; Petersen, Inge; Johnson, Wendy

    2015-01-01

    confirm a masculinizing effect of a male co-twin regarding for instance perception and cognition it remains unclear whether intra-uterine hormone transfer exists in humans. Our aim was to test the potential influences of testosterone on academic performance in OS twins. We compared ninth-grade test scores...... not provide evidence for a masculinization of female twins with male co-twins with regard to academic performance in adolescence....... and teacher ratings of OS (n=1812) and SS (n=4054) twins as well as of twins and singletons (n=13,900) in mathematics, physics/chemistry, Danish, and English. We found that males had significantly higher test scores in mathematics than females (.06-.15 SD), whereas females performed better in Danish (.33...

  5. Measuring early or late dependence for bivariate lifetimes of twins

    DEFF Research Database (Denmark)

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

    2015-01-01

    We consider data from the Danish twin registry and aim to study in detail how lifetimes for twin-pairs are correlated. We consider models where we specify the marginals using a regression structure, here Cox's regression model or the additive hazards model. The best known such model is the Clayton...... procedures are applied to Danish twin data to describe dependence in the lifetimes of the twins. Here we show that the early deaths are more correlated than the later deaths, and by comparing MZ and DZ associations we suggest that early deaths might be more driven by genetic factors. This conclusion requires...... models that are able to look at more local dependence measures. We further show that the dependence differs for MZ and DZ twins and appears to be the same for males and females, and that there are indications that the dependence increases over calendar time....

  6. Ischiopagus tripus conjoined twins in a western lowland gorilla (Gorilla gorilla).

    Science.gov (United States)

    Langer, S; Jurczynski, K; Gessler, A; Kaup, F-J; Bleyer, M; Mätz-Rensing, K

    2014-05-01

    Conjoined twinning is rare in man and non-human primates. The current report describes a case of ischiopagus tripus conjoined Western Lowland gorilla (Gorilla gorilla) twins. The female twins were joined at the umbilical and pelvic region, involving the liver, xiphoid, umbilicus, body wall and skin. Computed tomography revealed two complete spines. The combined pelvic space was formed by two sacra, each connected with two iliac bones. The twins were only conjoined by a common pubis. Cause of death was attributed to cardiac and circulatory collapse resulting from a large patent foramen ovale (8 mm in diameter) of one twin and neonatal asphyxia.

  7. Neonatal status of twins

    Directory of Open Access Journals (Sweden)

    Božinović Dragica

    2012-01-01

    Full Text Available Multiple pregnancy is a pregnancy where more than one fetus develops simultaneously in the womb, as a result of the ovulation and fertilization of more than one egg. It is relatively rare in humans and represents the rest of the phylogenetic stages. The most common are twins and they indicate the development of two fetuses in the womb. The frequency of twin pregnancies is about 1%. Multiple pregnancies belong to a group of high-risk pregnancies because of the many complications that occur during the pregnancy: higher number of premature deliveries, bleeding, early neonatal complications and higher perinatal morbidity and mortality. Such pregnancies and infants require greater supervision and monitoring. The aim of this study was to determine the percentage of baby twins born at the maternity ward of the General Hospital in Prokuplje and their morbidity and mortality. Data on the total number of deliveries, number of twins, parity and maternal age, gestational age, body weight of twins, method of delivery, Apgar score and perinatal mortality were collected and statistically analyzed by means of retrospective analysis of operative birth and neonatal protocol for 6 years (2005 of 2010. Out of 4527 mothers who gave birth 43 were pairs of twins, or 0.95% of women gave birth to twins. These babies are more likely born by Caesarean section, but delivered with slightly lower birth weight.

  8. SUSY Meets Her Twin

    CERN Document Server

    Katz, Andrey; Pokorski, Stefan; Redigolo, Diego; Ziegler, Robert

    2016-01-01

    We investigate the general structure of mirror symmetry breaking in the Twin Higgs scenario. We show, using the IR effective theory, that a significant gain in fine tuning can be achieved if the symmetry is broken hardly. We emphasize that weakly coupled UV completions can naturally accommodate this scenario. We analyze SUSY UV completions and present a simple Twin SUSY model with a tuning of around 10% and colored superpartners as heavy as 2 TeV. The collider signatures of general Twin SUSY models are discussed with a focus on the extended Higgs sectors.

  9. SUSY Meets Her Twin

    CERN Document Server

    Katz, Andrey; Pokorski, Stefan; Redigolo, Diego; Ziegler, Robert

    2017-01-01

    We investigate the general structure of mirror symmetry breaking in the Twin Higgs scenario. We show, using the IR effective theory, that a significant gain in fine tuning can be achieved if the symmetry is broken hardly. We emphasize that weakly coupled UV completions can naturally accommodate this scenario. We analyze SUSY UV completions and present a simple Twin SUSY model with a tuning of around 10% and colored superpartners as heavy as 2 TeV. The collider signatures of general Twin SUSY models are discussed with a focus on the extended Higgs sectors.

  10. SUSY Meets Her Twin

    CERN Document Server

    Katz, Andrey; Pokorski, Stefan; Redigolo, Diego; Ziegler, Robert

    2017-01-31

    We investigate the general structure of mirror symmetry breaking in the Twin Higgs scenario. We show, using the IR effective theory, that a significant gain in fine tuning can be achieved if the symmetry is broken hardly. We emphasize that weakly coupled UV completions can naturally accommodate this scenario. We analyze SUSY UV completions and present a simple Twin SUSY model with a tuning of around 10% and colored superpartners as heavy as 2 TeV. The collider signatures of general Twin SUSY models are discussed with a focus on the extended Higgs sectors.

  11. Maternal Expressed Emotion Predicts Children's Antisocial Behavior Problems: Using Monozygotic-Twin Differences to Identify Environmental Effects on Behavioral Development

    Science.gov (United States)

    Caspi, Avshalom; Moffitt, Terrie E.; Morgan, Julia; Rutter,Michael; Taylor,Alan; Arseneault, Louise; Tully, Lucy; Jacobs, Catherine; Kim-Cohen, Julia

    2004-01-01

    If maternal expressed emotion is an environmental risk factor for children's antisocial behavior problems, it should account for behavioral differences between siblings growing up in the same family even after genetic influences on children's behavior problems are taken into account. This hypothesis was tested in the Environmental Risk…

  12. Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

    Directory of Open Access Journals (Sweden)

    Youssef Hibaoui

    2014-12-01

    Full Text Available Down syndrome (DS, trisomy 21, is the most common viable chromosomal disorder, with an incidence of 1 in 800 live births. Its phenotypic characteristics include intellectual impairment and several other developmental abnormalities, for the majority of which the pathogenetic mechanisms remain unknown. In this “Data in Brief” paper, we sum up the whole genome analysis by mRNA sequencing of normal and DS induced pluripotent stem cells that was recently published by Hibaoui et al. in EMBO molecular medicine.

  13. Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: Concordant presentation, discordant response to treatment

    NARCIS (Netherlands)

    J.C. Davin; K.H. Olie; R. Verlaak; F. Horuz; S. Florquin; J.J. Weening; J.W. Groothoff; L. Strain; T.H.J. Goodship

    2006-01-01

    Hemolytic uremic syndrome not associated with diarrhea (diarrhea negative, atypical) is less common than the diarrhea-positive typical form, but frequently results In end-stage renal failure. Although there are anecdotal cases of successful treatment with fresh frozen plasma alone, the value of this

  14. Progressive facial hemiatrophy : a complex disorder not only affecting the face. A report in a monozygotic male twin pair

    NARCIS (Netherlands)

    Hulzebos, C V; de Vries, T W; Armbrust, W; Sauer, P J J; Kerstjens-Frederikse, W S

    2004-01-01

    Progressive facial hemiatrophy (PFH) is a ubiquitous disease, characterized by hyperpigmentation of the skin followed by unilateral craniofacial atrophy of subcutaneous tissues, including fat, muscle and bone. Hereditary factors have been postulated to be involved in the aetiology of PFH. Yet, the o

  15. The similiarity of facial expressions in response to emotion-inducing films in reared-apart twins.

    Science.gov (United States)

    Kendler, K S; Halberstadt, L J; Butera, F; Myers, J; Bouchard, T; Ekman, P

    2008-10-01

    While the role of genetic factors in self-report measures of emotion has been frequently studied, we know little about the degree to which genetic factors influence emotional facial expressions. Twenty-eight pairs of monozygotic (MZ) and dizygotic (DZ) twins from the Minnesota Study of Twins Reared Apart were shown three emotion-inducing films and their facial responses recorded. These recordings were blindly scored by trained raters. Ranked correlations between twins were calculated controlling for age and sex. Twin pairs were significantly correlated for facial expressions of general positive emotions, happiness, surprise and anger, but not for general negative emotions, sadness, or disgust or average emotional intensity. MZ pairs (n=18) were more correlated than DZ pairs (n=10) for most but not all emotional expressions. Since these twin pairs had minimal contact with each other prior to testing, these results support significant genetic effects on the facial display of at least some human emotions in response to standardized stimuli. The small sample size resulted in estimated twin correlations with very wide confidence intervals.

  16. Twin-twin Transfusion Syndrome with a Single Ectopic Kidney in a Twin Donor. Case Presentation

    Directory of Open Access Journals (Sweden)

    Gerardo Rogelio Robaina Castellanos

    2016-10-01

    Full Text Available Twin-twin Transfusion Syndrome presents more frequently in diamniotic monochromic twins. In advanced stages and without prenatal intervention, is associated to high rates of peri natal mortality and neurological sequel in the survivors. It is presented a case of a pair of twins with severe depression at birth in which it was diagnosed a Twin-twin Transfusion Syndrome, later confirmed with the presence of anemia in the donor twin and polycythemia in the receptor twin. Both twins had an unfavourable evolution with an early neonatal death. Necropsy findings were comparable with secondary damage to the syndrome, with the particularity that both had evidences of pulmonary infection and a renal malformation in the donor twin which is not included in the proper malformations of this syndrome. The objective of this work is to point out the essential elements for the diagnosis and antenatal treatment for this disease through the peculiarities of the presented case.

  17. Preliminary evidence of a noncausal association between the X-chromosome inactivation pattern and thyroid autoimmunity: a twin study

    DEFF Research Database (Denmark)

    Brix, Thomas Heiberg; Hansen, Pia Skov; Kyvik, Kirsten Ohm

    2009-01-01

    ; regression coefficient (beta)=1.45 (95% confidence interval, 0.52-2.38), P=0.003. The association remained significant in the within-pair analysis; beta=1.74 (0.79-2.69), Pbeta=0.57 (-0.78-1.92), P=0.405), whereas the association...... was significant in the 77 dizygotic pairs (beta=2.17 (0.81-3.53), P=0.002). This preliminary finding of a significant association between TPOAb concentrations and XCI within cohort and within dizygotic but not within monozygotic twin pairs may indicate that XCI per se does not have a major role...

  18. Twin pregnancy in a liver transplant recipient with HIV infection.

    Science.gov (United States)

    Van Schalkwyk, McI; Westbrook, R H; O'Beirne, J; Wright, A; Gonzalez, A; Johnson, M A; Kinloch-de Loës, S

    2016-10-05

    We are not aware of a report detailing the complex obstetrical and medical management of twin pregnancy in the context of HIV infection and early post-liver transplantation period. Here we describe the successful outcome of a twin pregnancy in a 28-year-old HIV-positive female receiving antiretroviral therapy and immunosuppressive therapy who was the recipient of a liver transplant for previous drug-induced liver failure.

  19. Delayed Interval Delivery following Early Loss of the Leading Twin

    Directory of Open Access Journals (Sweden)

    P. C. Udealor

    2015-01-01

    Full Text Available This was a case of a nulliparous woman with reduced chance of conception following unilateral salpingectomy and years of infertility. She eventually conceived following ovulation induction resulting in twin pregnancy. She had miscarriage that led to loss of one of the twins at 17 weeks of gestational age. The pregnancy was however continued for 116 days following meticulous management with eventual delivery of a live female baby with good outcome.

  20. Is Chronic Low Back Pain Associated with the Prevalence of Coronary Heart Disease when Genetic Susceptibility Is Considered? A Co-Twin Control Study of Spanish Twins.

    Science.gov (United States)

    Fernandez, Matt; Ordoñana, Juan R; Hartvigsen, Jan; Ferreira, Manuela L; Refshauge, Kathryn M; Sánchez-Romera, Juan F; Pinheiro, Marina B; Simpson, Stephen J; Hopper, John L; Ferreira, Paulo H

    2016-01-01

    To investigate the chronic low back pain and coronary heart disease relationship, after adjusting for relevant confounders, including genetics. In a cross-sectional design, 2148 twins were recruited from the Murcia Twin Registry, Spain. The exposure was chronic LBP and the outcomes were myocardial infarction and other coronary heart diseases-lifetime and in the last 2 years-based on standardized health-related questionnaires. First, logistic regression analysis investigated associations of the total sample followed by a matched co-twin control analyses, with all complete twin pairs discordant for chronic LBP utilised, separated for zygosity-dizygotic (DZ) and monozygotic (MZ) pairs, which adjusted for shared familial factors, including genetics. Chronic LBP pain is associated with lifetime myocardial infarction [odds ratio (OR) = 2.69, 95% confidence interval (CI) = 1.35-5.36], other coronary heart diseases over a lifetime (OR = 2.58, 95% CI: 1.69-3.93) and in the last two years (OR = 2.19, 95% CI: 1.33-3.60), while there was a borderline association with myocardial infarction in the last 2 years (OR = 2.64, 95% CI: 0.98-7.12). Although the magnitude of the association remained or increased in the co-twin control analyses, none reached statistical significance. Chronic LBP is associated with a higher prevalence of myocardial infarction and coronary heart disease. It is possible that this association remains even when controlling for genetics and early shared environment, although this should be investigated with larger samples of twins discordant for LBP.