Twin research : the official journal of the International Society for Twin Studies最新文献

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Genetic Influences in Self-Reported Symptoms of Obstructive Sleep Apnoea and Restless Legs: A Twin Study 自我报告的阻塞性睡眠呼吸暂停和不宁腿症状的遗传影响:一项双胞胎研究
Anup V. Desai, L. Cherkas, T. Spector, A. Williams
{"title":"Genetic Influences in Self-Reported Symptoms of Obstructive Sleep Apnoea and Restless Legs: A Twin Study","authors":"Anup V. Desai, L. Cherkas, T. Spector, A. Williams","doi":"10.1375/twin.7.6.589","DOIUrl":"https://doi.org/10.1375/twin.7.6.589","url":null,"abstract":"Abstract Sleep disorders, such as obstructive sleep apnoea (OSA) and restless legs syndrome (RLS), are very common. The relative importance of genetic and non-genetic (environmental) influences on the symptomatology of these conditions has not been well studied. This study uses the twin design to examine this by evaluating OSA and RLS symptoms in monozygotic (MZ) and dizygotic (DZ) twins. Six thousand six hundred unselected female twin pairs, identified from a national volunteer twin register, were asked to complete a medical questionnaire. This questionnaire included questions on OSA and RLS symptoms, as well as questions on subject demographics, past medical history, smoking history and menopausal status. Responses were obtained from 4503 individuals (68% response rate). A total of 1937 twin pairs were evaluable: 933 MZ pairs (mean [range] age 51 [20–76] years) and 1004 DZ pairs (age 51 [20–80] years). Concordance rates were higher for MZ than DZ twins for OSA and RLS symptoms. Multifactorial liability threshold modeling suggests that additive genetic effects combined with unique environmental factors provide the best model for OSA and RLS symptoms. Heritability was estimated to be 52% (95% confidence interval 36% to 68%) for disruptive snoring, 48% (37% to 58%) for daytime sleepiness, 54% (44% to 63%) for restless legs, and 60% (51% to 69%) for legs jerking. These estimates dropped only slightly after adjustment for potential confounding influences on the symptoms of snoring and daytime sleepiness. These results suggest a substantial genetic contribution to the symptomatology of OSA and RLS. More research is needed to identify the genes responsible, and may ultimately lead to new therapies.","PeriodicalId":75270,"journal":{"name":"Twin research : the official journal of the International Society for Twin Studies","volume":"7 1","pages":"589 - 595"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1375/twin.7.6.589","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66608829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The association between prolonged fatigue and cardiovascular disease in World War II veteran twins. 二战老兵双胞胎长期疲劳与心血管疾病之间的关系。
Annette L Fitzpatrick, Terry Reed, Jack Goldberg, Dedra Buchwald
{"title":"The association between prolonged fatigue and cardiovascular disease in World War II veteran twins.","authors":"Annette L Fitzpatrick,&nbsp;Terry Reed,&nbsp;Jack Goldberg,&nbsp;Dedra Buchwald","doi":"10.1375/1369052042663913","DOIUrl":"https://doi.org/10.1375/1369052042663913","url":null,"abstract":"<p><p>Reports of fatigue preceding cardiac events have recently been confirmed by large prospective studies. To assess for genetic confounding, we investigated prolonged fatigue and cardiovascular disease (CVD) in a cohort of World War II veteran twins. We examined data from a questionnaire mailed to members of the National Academy of Sciences-National Research Council (NAS-NRC) World War II Twins Registry in 1998 and 1999 which included questions on demographics, medical conditions and symptoms of fatigue. Data from twins discordant for prolonged fatigue lasting a month or more were analyzed using conditional logistic regression. Among 1955 twin pairs, 157 monozygotic and 174 dizygotic pairs (mean age 74 years) were discordant for prolonged fatigue. An association was found between prolonged fatigue and a history of myocardial infarction or coronary artery surgery adjusting for age, socioeconomic status, smoking, alcohol use and depression (OR [Odds Ratio]: 2.2; 95% CI: 1.3-4.0). When analyses were performed separately by zygosity, the association was slightly larger for monozygotic (OR: 3.3; 95% CI: 1.2-9.1) than dizygotic twins (OR: 1.9; 95% CI: 0.9-4.0). These data corroborate the association of fatigue with CVD and suggest that it is not influenced by a common genetic factor. Further studies are needed to clarify the relationship and to better understand the biologic mechanisms.</p>","PeriodicalId":75270,"journal":{"name":"Twin research : the official journal of the International Society for Twin Studies","volume":"7 6","pages":"571-7"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1375/1369052042663913","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25037051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 11
A Deletion Mutation in GDF9 in Sisters with Spontaneous DZ Twins 自发性DZ双胞胎姐妹中GDF9缺失突变
G. Montgomery, Z. Zhao, Anna J Marsh, Renee Mayne, S. Treloar, M. James, N. Martin, D. Boomsma, D. Duffy
{"title":"A Deletion Mutation in GDF9 in Sisters with Spontaneous DZ Twins","authors":"G. Montgomery, Z. Zhao, Anna J Marsh, Renee Mayne, S. Treloar, M. James, N. Martin, D. Boomsma, D. Duffy","doi":"10.1375/twin.7.6.548","DOIUrl":"https://doi.org/10.1375/twin.7.6.548","url":null,"abstract":"Abstract Aloss of function mutation in growth differentiation factor 9 (GDF9) in sheep causes increased ovulation rate and infertility in a dosage-sensitive manner. Spontaneous dizygotic (DZ) twinning in the human is under genetic control and women with a history of DZ twinning have an increased incidence of multiple follicle growth and multiple ovulation. We sequenced the GDF9 coding region in DNA samples from 20 women with DZ twins and identified a four-base pair deletion in GDF9 in two sisters with twins from one family. We screened a further 429 families and did not find the loss of function mutation in any other families. We genotyped eight single nucleotide polymorphisms across the GDF9 locus in 379 families with two sisters who have both given birth to spontaneous DZ twins (1527 individuals) and 226 triad families with mothers of twins and their parents (723 individuals). Using case control analysis and the transmission disequilibrium test we found no evidence for association between common variants in GDF9 and twinning in the families. We conclude that rare mutations in GDF9 may influence twinning, but twinning frequency is not associated with common variation in GDF9.","PeriodicalId":75270,"journal":{"name":"Twin research : the official journal of the International Society for Twin Studies","volume":"7 1","pages":"548 - 555"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1375/twin.7.6.548","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66608722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Quantitative Trait Locus on 13q14.2 for Trunk Strength 树干强度13q14.2的一个数量性状位点
W. Huygens, M. Thomis, M. Peeters, J. Aerssens, R. Janssen, R. Vlietinck, G. Beunen
{"title":"A Quantitative Trait Locus on 13q14.2 for Trunk Strength","authors":"W. Huygens, M. Thomis, M. Peeters, J. Aerssens, R. Janssen, R. Vlietinck, G. Beunen","doi":"10.1375/twin.7.6.603","DOIUrl":"https://doi.org/10.1375/twin.7.6.603","url":null,"abstract":"Abstract Previous findings show strong evidence for the role of retinoblastoma (Rb) in myoblast proliferation and differentiation. However, it is not known whether variation in the retinoblastoma gene (RB1) is responsible for normal variation in human muscle strength. Therefore, a linkage analysis for quantitative traits was performed on 329 young male siblings from 146 families with muscle strength, using a polymorphic marker in RB1 (D13S153 on 13q14.2). Trunk strength, a general strength indicator that requires activation of large muscle groups, was measured on a Cybex TEF isokinetic dynamometer. We found evidence for linkage between locus D13S153 at 13q14.2 and several measurements of trunk flexion with LOD scores between 1.62 and 2.78 (.002 < p < .0002). No evidence for linkage was found with trunk extension. This first exploration of the relationship between RB1 and human muscle strength through linkage analysis warrants efforts for further fine mapping of this region.","PeriodicalId":75270,"journal":{"name":"Twin research : the official journal of the International Society for Twin Studies","volume":"7 1","pages":"603 - 606"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1375/twin.7.6.603","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66608873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic Simplex Modeling of Eysenck's Dimensions of Personality in a Sample of Young Australian Twins 艾森克人格维度的遗传单纯形模型在澳大利亚年轻双胞胎样本中的应用
N. Gillespie, David M. Evans, Margie Wright, N. Martin
{"title":"Genetic Simplex Modeling of Eysenck's Dimensions of Personality in a Sample of Young Australian Twins","authors":"N. Gillespie, David M. Evans, Margie Wright, N. Martin","doi":"10.1375/twin.7.6.637","DOIUrl":"https://doi.org/10.1375/twin.7.6.637","url":null,"abstract":"Abstract The relative stability and magnitude of genetic and environmental effects underlying major dimensions of adolescent personality across time were investigated. The Junior Eysenck Personality Questionnaire was administered to over 540 twin pairs at ages 12, 14 and 16 years. Their personality scores were analyzed using genetic simplex modeling which explicitly took into account the longitudinal nature of the data. With the exception of the dimension lie, multivariate model fitting results revealed that familial aggregation was entirely explained by additive genetic effects. Results from simplex model fitting suggest that large proportions of the additive genetic variance observed at ages 14 and 16 years could be explained by genetic effects present at the age of 12 years. There was also evidence for smaller but significant genetic innovations at 14 and 16 years of age for male and female neuroticism, at 14 years for male extraversion, at 14 and 16 years for female psychoticism, and at 14 years for male psychoticism.","PeriodicalId":75270,"journal":{"name":"Twin research : the official journal of the International Society for Twin Studies","volume":"7 1","pages":"637 - 648"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1375/twin.7.6.637","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66608475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Comparison of feeding among multiple birth infants. 多胎婴儿喂养的比较。
Sheela R Geraghty, Jane C Khoury, Heidi J Kalkwarf
{"title":"Comparison of feeding among multiple birth infants.","authors":"Sheela R Geraghty,&nbsp;Jane C Khoury,&nbsp;Heidi J Kalkwarf","doi":"10.1375/1369052042663788","DOIUrl":"https://doi.org/10.1375/1369052042663788","url":null,"abstract":"<p><p>Mothers of multiples who choose to feed their infants breast milk are faced with a seemingly overwhelming set of circumstances. Since mothers of multiples could potentially feed their infants differing proportions of breast milk, current methods of obtaining breastfeeding data for mothers of singletons may not adequately describe the breastfeeding behaviors of mothers of twins and triplets. The goal of our study was to determine the proportion of breast milk each infant of a multiple set was fed over a six-month period and compare the feeding regimens of sibling infants. Results of this retrospective study based on maternal reports indicated that there was almost complete agreement in the proportion of breast milk fed to siblings born from the same pregnancy, regardless of stratification based on gestational age, plurality, or location of the infants (hospital vs. home). The Pearson correlation coefficient for duration of breast-milk feeding between sibling twins was 0.99 (p < .0001); among sibling triplets the values were .97, .98 and .99 (p < .0001). A better understanding of the process by which twins and triplets are fed breast milk sets the stage for future research and can ultimately lead to the development of strategies to increase breast-milk feeding rates for multiple birth children.</p>","PeriodicalId":75270,"journal":{"name":"Twin research : the official journal of the International Society for Twin Studies","volume":"7 6","pages":"542-7"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1375/1369052042663788","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25037108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
The use of linear mixed models to estimate variance components from data on twin pairs by maximum likelihood. 利用线性混合模型用最大似然法估计双胞胎数据的方差成分。
Peter M Visscher, Beben Benyamin, Ian White
{"title":"The use of linear mixed models to estimate variance components from data on twin pairs by maximum likelihood.","authors":"Peter M Visscher,&nbsp;Beben Benyamin,&nbsp;Ian White","doi":"10.1375/1369052042663742","DOIUrl":"https://doi.org/10.1375/1369052042663742","url":null,"abstract":"<p><p>It is shown that maximum likelihood estimation of variance components from twin data can be parameterized in the framework of linear mixed models. Standard statistical packages can be used to analyze univariate or multivariate data for simple models such as the ACE and CE models. Furthermore, specialized variance component estimation software that can handle pedigree data and user-defined covariance structures can be used to analyze multivariate data for simple and complex models, including those where dominance and/or QTL effects are fitted. The linear mixed model framework is particularly useful for analyzing multiple traits in extended (twin) families with a large number of random effects.</p>","PeriodicalId":75270,"journal":{"name":"Twin research : the official journal of the International Society for Twin Studies","volume":"7 6","pages":"670-4"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1375/1369052042663742","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24867511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 46
Genetic Influences on Female Infidelity and Number of Sexual Partners in Humans: A Linkage and Association Study of the Role of the Vasopressin Receptor Gene (AVPR1A) 人类女性不忠和性伴侣数量的遗传影响:抗利尿激素受体基因(AVPR1A)作用的连锁关联研究
L. Cherkas, E. Oelsner, Y. Mak, Anna Valdes, T. Spector
{"title":"Genetic Influences on Female Infidelity and Number of Sexual Partners in Humans: A Linkage and Association Study of the Role of the Vasopressin Receptor Gene (AVPR1A)","authors":"L. Cherkas, E. Oelsner, Y. Mak, Anna Valdes, T. Spector","doi":"10.1375/twin.7.6.649","DOIUrl":"https://doi.org/10.1375/twin.7.6.649","url":null,"abstract":"Abstract In humans, in contrast to animals, the genetic influences on infidelity are unclear. We report here a large study of over 1600 unselected United Kingdom female twin pairs who confidentially reported previous episodes of infidelity and total lifetime number of sexual partners, as well as attitudes towards infidelity. Our findings demonstrate that infidelity and number of sexual partners are both under moderate genetic influence (41% and 38% heritable, respectively) and the genetic correlation between these two traits is strong (47%). Conversely, attitudes towards infidelity are driven by shared and unique environmental, but not genetic, influences. A genome-wide linkage scan identified three suggestive but nonsignificant linkage areas associated with infidelity and number of sexual partners on chromosomes 3, 7 and 20 with a maximum LOD score of 2.46. We were unsuccessful in associating infidelity or number of sexual partners with a locus implicated in other mammals' sexual behavior, the vasopressin receptor gene. Nonetheless, our findings on the heritabil-ity of sexual infidelity and number of sexual partners provide support for certain evolutionary theories of human sexual behavior, as well as justifying further genetic and molecular research in this domain.","PeriodicalId":75270,"journal":{"name":"Twin research : the official journal of the International Society for Twin Studies","volume":"42 1","pages":"649 - 658"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1375/twin.7.6.649","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66608484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
The Use of Linear Mixed Models to Estimate Variance Components from Data on Twin Pairs by Maximum Likelihood 利用线性混合模型用极大似然法估计双胞胎数据的方差成分
P. Visscher, Beben Benyamin, I. White
{"title":"The Use of Linear Mixed Models to Estimate Variance Components from Data on Twin Pairs by Maximum Likelihood","authors":"P. Visscher, Beben Benyamin, I. White","doi":"10.1375/twin.7.6.670","DOIUrl":"https://doi.org/10.1375/twin.7.6.670","url":null,"abstract":"Abstract It is shown that maximum likelihood estimation of variance components from twin data can be parameterized in the framework of linear mixed models. Standard statistical packages can be used to analyze univariate or multivariate data for simple models such as the ACE and CE models. Furthermore, specialized variance component estimation software that can handle pedigree data and user-defined covariance structures can be used to analyze multivariate data for simple and complex models, including those where dominance and/or QTL effects are fitted. The linear mixed model framework is particularly useful for analyzing multiple traits in extended (twin) families with a large number of random effects.","PeriodicalId":75270,"journal":{"name":"Twin research : the official journal of the International Society for Twin Studies","volume":"7 1","pages":"670 - 674"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1375/twin.7.6.670","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66609238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Abstracts for the GenomEUtwin Scientific Meeting Rome, 13–14 December, 2004 2004年12月13-14日,罗马,genome - twin科学会议摘要
{"title":"Abstracts for the GenomEUtwin Scientific Meeting Rome, 13–14 December, 2004","authors":"","doi":"10.1375/twin.7.6.680","DOIUrl":"https://doi.org/10.1375/twin.7.6.680","url":null,"abstract":"","PeriodicalId":75270,"journal":{"name":"Twin research : the official journal of the International Society for Twin Studies","volume":"7 1","pages":"680 - 689"},"PeriodicalIF":0.0,"publicationDate":"2004-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1375/twin.7.6.680","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66609368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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