Although there is evidence that social status has a genetic basis, it is less known whether the genetic predisposition differs between men and women as well as among different status indicators and whether there are any intercorrelations among predispositions of status indicators. We therefore investigated the genetic predisposition for different indicators of social status separately for men and women, using polygenic scores obtained from the Wisconsin Longitudinal Study. We used multivariate polygenic regression of 7 different social status indicators on a total of 24 different polygenic scores. We find that in both men and women, wages and education show more associations with polygenic scores than the other status indicators. Also, the genetic predispositions for education and wages are correlated in both men and women, whereas in men more than in women, the genetic predispositions seem to cluster into wages and education on the one hand, and status indicators of position in the hierarchy, on the other hand, with being in a management position somewhere in between. These findings are consistent with an assumption of two different forms of selection pressure associated with either cognitive skill or dominance, which holds true particularly in men. We conclude that the genetic predisposition to higher social status may have changed even though the importance of the cultural trait of social status may have been very constant. Social status may thus be an example of a social trait of constant importance, but with a changing genetic predisposition.
{"title":"Genetic Predisposition of Different Social Status Indicators in Men and Women.","authors":"Martin Fieder, Susanne Huber","doi":"10.1017/thg.2024.23","DOIUrl":"https://doi.org/10.1017/thg.2024.23","url":null,"abstract":"<p><p>Although there is evidence that social status has a genetic basis, it is less known whether the genetic predisposition differs between men and women as well as among different status indicators and whether there are any intercorrelations among predispositions of status indicators. We therefore investigated the genetic predisposition for different indicators of social status separately for men and women, using polygenic scores obtained from the Wisconsin Longitudinal Study. We used multivariate polygenic regression of 7 different social status indicators on a total of 24 different polygenic scores. We find that in both men and women, wages and education show more associations with polygenic scores than the other status indicators. Also, the genetic predispositions for education and wages are correlated in both men and women, whereas in men more than in women, the genetic predispositions seem to cluster into wages and education on the one hand, and status indicators of position in the hierarchy, on the other hand, with being in a management position somewhere in between. These findings are consistent with an assumption of two different forms of selection pressure associated with either cognitive skill or dominance, which holds true particularly in men. We conclude that the genetic predisposition to higher social status may have changed even though the importance of the cultural trait of social status may have been very constant. Social status may thus be an example of a social trait of constant importance, but with a changing genetic predisposition.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-11"},"PeriodicalIF":1.0,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142155005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nikki Hubers, Christian M Page, Lannie Ligthart, René Pool, Jouke-Jan Hottenga, Jenny van Dongen, Cornelis B Lambalk, Jennifer R Harris, Gonneke Willemsen, Dorret I Boomsma
Previous studies have shown that mothers of naturally conceived dizygotic (DZ) twins tend to be taller, older, and smoke more than mothers of naturally conceived monozygotic (MZ) twin and mothers of singletons. Here, we investigate whether mothers of naturally conceived DZ twins differ from mothers who conceived their DZ twins after medically assisted reproduction (MAR) in eight maternal traits related to fertility based on observational survey data. We include data from 33,648 mothers from the Netherlands Twin Register (NTR) and 1660 mothers of twins from the Norwegian Mother, Father and Child Cohort Study (MoBA). We contrast mothers of naturally conceived DZ twins with mothers of MAR DZ twins. Next, we further segment the MAR group into mothers who underwent hormonal induction of ovulation but not in vitro fertilization (IVF) and those who IVF twins, comparing them both to each other and against the mothers of naturally conceived DZ twins. Mothers of naturally conceived DZ twins smoke more often, differ in body composition, have a higher maternal age and have more offspring before the twins than mothers of MZ twins. Compared to MAR DZ twin mothers, mothers of naturally conceived DZ twins have fewer miscarriages, lower maternal age and increased height, more offspring and are more often smokers. BMI before the twin pregnancy is similar in both natural and MAR DZ twin mothers. Mothers who received hormonal induction of ovulation (OI) have a lower maternal age, fewer miscarriages, and a higher number of offspring before their twin pregnancy than twin mothers who received IVF and/or intracytoplasmic sperm injection (ICSI) treatments. Our study shows that twin mothers are a heterogenous group and the differences between twin mothers should be taken into account in epidemiological and genetic research that includes twins.
以往的研究表明,与自然受孕的单卵双胞胎(MZ)母亲和单胎母亲相比,自然受孕的双卵双胞胎(DZ)母亲往往身高更高、年龄更大、吸烟更多。在此,我们根据观察性调查数据研究了自然受孕的 DZ 双胞胎母亲与通过医学辅助生殖(MAR)受孕的 DZ 双胞胎母亲在与生育有关的八个母亲特征方面是否存在差异。我们纳入了来自荷兰双胞胎登记(NTR)的33648名母亲和挪威母亲、父亲和儿童队列研究(MoBA)的1660名双胞胎母亲的数据。我们将自然受孕的 DZ 双胞胎母亲与 MAR DZ 双胞胎母亲进行了对比。接下来,我们将MAR组进一步划分为接受激素诱导排卵但未接受体外受精(IVF)的母亲和接受体外受精的双胞胎母亲,并将她们与自然受孕的DZ双胞胎母亲进行比较。与 MZ 双胞胎的母亲相比,自然受孕的 DZ 双胞胎的母亲吸烟更频繁、身体成分有差异、母亲年龄更高、在双胞胎之前有更多的后代。与 MAR DZ 双胞胎母亲相比,自然受孕的 DZ 双胞胎母亲流产次数更少、母亲年龄更小、身高更高、后代更多,而且更经常吸烟。自然怀孕的 DZ 双胞胎母亲和 MAR DZ 双胞胎母亲怀孕前的体重指数相似。与接受体外受精和/或卵胞浆内单精子显微注射(ICSI)治疗的双胞胎母亲相比,接受激素诱导排卵(OI)的母亲在双胞胎妊娠前的年龄更小、流产更少、后代数量更多。我们的研究表明,双胞胎母亲是一个异质群体,在进行包括双胞胎在内的流行病学和遗传学研究时,应考虑到双胞胎母亲之间的差异。
{"title":"Maternal Characteristics in Natural and Medically Assisted Reproduction Dizygotic Twin Pregnancies.","authors":"Nikki Hubers, Christian M Page, Lannie Ligthart, René Pool, Jouke-Jan Hottenga, Jenny van Dongen, Cornelis B Lambalk, Jennifer R Harris, Gonneke Willemsen, Dorret I Boomsma","doi":"10.1017/thg.2024.26","DOIUrl":"https://doi.org/10.1017/thg.2024.26","url":null,"abstract":"<p><p>Previous studies have shown that mothers of naturally conceived dizygotic (DZ) twins tend to be taller, older, and smoke more than mothers of naturally conceived monozygotic (MZ) twin and mothers of singletons. Here, we investigate whether mothers of naturally conceived DZ twins differ from mothers who conceived their DZ twins after medically assisted reproduction (MAR) in eight maternal traits related to fertility based on observational survey data. We include data from 33,648 mothers from the Netherlands Twin Register (NTR) and 1660 mothers of twins from the Norwegian Mother, Father and Child Cohort Study (MoBA). We contrast mothers of naturally conceived DZ twins with mothers of MAR DZ twins. Next, we further segment the MAR group into mothers who underwent hormonal induction of ovulation but not in vitro fertilization (IVF) and those who IVF twins, comparing them both to each other and against the mothers of naturally conceived DZ twins. Mothers of naturally conceived DZ twins smoke more often, differ in body composition, have a higher maternal age and have more offspring before the twins than mothers of MZ twins. Compared to MAR DZ twin mothers, mothers of naturally conceived DZ twins have fewer miscarriages, lower maternal age and increased height, more offspring and are more often smokers. BMI before the twin pregnancy is similar in both natural and MAR DZ twin mothers. Mothers who received hormonal induction of ovulation (OI) have a lower maternal age, fewer miscarriages, and a higher number of offspring before their twin pregnancy than twin mothers who received IVF and/or intracytoplasmic sperm injection (ICSI) treatments. Our study shows that twin mothers are a heterogenous group and the differences between twin mothers should be taken into account in epidemiological and genetic research that includes twins.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-7"},"PeriodicalIF":1.0,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142141232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Immunity activation and inflammation are the main characteristics of rheumatoid arthritis and clonal hematopoiesis. However, it remains unclear whether rheumatoid arthritis increase the risk of clonal hematopoiesis. Here, a Mendelian randomization (MR) analysis was conduct to explore the causal effects of rheumatoid arthritis on clonal hematopoiesis. Summary statistics data of rheumatoid arthritis (13,838 cases and 33,742 controls) and clonal hematopoiesis (10,203 cases and 173,918 controls) derived from a genomewide association study were selected to analyze. We selected inverse-variance weighted, MR-Egger, weighted median, simple mode, and weighted mode to evaluate the causal effect of rheumatoid arthritis on clonal hematopoiesis. The two-sample MR analysis suggested a strong causal relationship between rheumatoid arthritis and clonal hematopoiesis by inverse-variance weighted (OR = 1.002311673, 95% CI [1.000110757, 1.004517433], p = .039706) and weighted median (OR = 1.002311673, 95% CI [1.000110757, 1.004517433], p = .039518447) methods. No significant pleiotropy or heterogeneity was found in the sensitivity analysis. These results supported a potentially causal relationship between rheumatoid arthritis and clonal hematopoiesis, and the exposure of rheumatoid arthritis increased the risks of clonal hematopoiesis. Our findings highlight the importance of how chronic inflammation and immune activation induced rheumatoid arthritis enhances the risks of clonal hematopoiesis, and that early intervention with rheumatoid arthritis patients might reduce the clonal hematopoiesis risks in rheumatoid arthritis patients. Moreover, our study provides clues for prediction of risk factors and potential mechanisms of clonal hematopoiesis.
{"title":"Association Between Rheumatoid Arthritis and Clonal Hematopoiesis: A Mendelian Randomization Study.","authors":"Jie Zhang, Chun Zhou, Shaoxing Guan","doi":"10.1017/thg.2024.24","DOIUrl":"https://doi.org/10.1017/thg.2024.24","url":null,"abstract":"<p><p>Immunity activation and inflammation are the main characteristics of rheumatoid arthritis and clonal hematopoiesis. However, it remains unclear whether rheumatoid arthritis increase the risk of clonal hematopoiesis. Here, a Mendelian randomization (MR) analysis was conduct to explore the causal effects of rheumatoid arthritis on clonal hematopoiesis. Summary statistics data of rheumatoid arthritis (13,838 cases and 33,742 controls) and clonal hematopoiesis (10,203 cases and 173,918 controls) derived from a genomewide association study were selected to analyze. We selected inverse-variance weighted, MR-Egger, weighted median, simple mode, and weighted mode to evaluate the causal effect of rheumatoid arthritis on clonal hematopoiesis. The two-sample MR analysis suggested a strong causal relationship between rheumatoid arthritis and clonal hematopoiesis by inverse-variance weighted (<i>OR</i> = 1.002311673, 95% CI [1.000110757, 1.004517433], <i>p</i> = .039706) and weighted median (<i>OR</i> = 1.002311673, 95% CI [1.000110757, 1.004517433], <i>p</i> = .039518447) methods. No significant pleiotropy or heterogeneity was found in the sensitivity analysis. These results supported a potentially causal relationship between rheumatoid arthritis and clonal hematopoiesis, and the exposure of rheumatoid arthritis increased the risks of clonal hematopoiesis. Our findings highlight the importance of how chronic inflammation and immune activation induced rheumatoid arthritis enhances the risks of clonal hematopoiesis, and that early intervention with rheumatoid arthritis patients might reduce the clonal hematopoiesis risks in rheumatoid arthritis patients. Moreover, our study provides clues for prediction of risk factors and potential mechanisms of clonal hematopoiesis.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":0.9,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141200078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
An overview of circumstances in which twins take the place of their co-twin is presented. Various explanations and speculations are proposed for understanding twins' willingness to do so in certain situations. This section is followed by reviews of timely twin research, namely single versus multiple embryo transfer; neurimaging of twins with periventricular nodular heterotopia; a twin dietary comparison; and a new book of twin-related readings from Hungary. The final portion of this article concerns human interest stories that both inform and entertain. They involve valedictorian and salutatorian twins; a mother delivering twins at age seventy; twins reunited by TikTok; a new film about twins with selective mutism; and twins becoming doctors.
{"title":"Twins Standing in for Co-Twins: Explanation and Speculation/Twin Research Reviews: Single v. Multiple Embryo Transfer; Neurimaging of Twins with Periventricular Nodular Heterotopia; Twin Dietary Study; New Hungarian Text on Twins/Human Interest: Valedictorian and Salutatorian Twins; Twin Mother at Age Seventy; Twins Reunited by Tiktok; New Film on Twins with Selective Mutism; Becoming Twin Doctors.","authors":"Nancy L Segal","doi":"10.1017/thg.2024.22","DOIUrl":"https://doi.org/10.1017/thg.2024.22","url":null,"abstract":"<p><p>An overview of circumstances in which twins take the place of their co-twin is presented. Various explanations and speculations are proposed for understanding twins' willingness to do so in certain situations. This section is followed by reviews of timely twin research, namely single versus multiple embryo transfer; neurimaging of twins with periventricular nodular heterotopia; a twin dietary comparison; and a new book of twin-related readings from Hungary. The final portion of this article concerns human interest stories that both inform and entertain. They involve valedictorian and salutatorian twins; a mother delivering twins at age seventy; twins reunited by TikTok; a new film about twins with selective mutism; and twins becoming doctors.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-5"},"PeriodicalIF":0.9,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Researchers have proposed that culture significantly influences perceived stress (PS). To date, however, twin studies on PS have been conducted mostly in western, individualistic cultures, which demonstrate that PS due to controllable (personal) life events is more heritable than PS due to uncontrollable (network) life events. This study aimed to investigate genetic and environmental influences on PS in South Korean twins. South Korea practices a dominant collectivist culture. In total, 1372 twin individuals (mean age = 22.4 ± 2.5 years) completed an online survey on PS, which consisted of the scales, Friendship, Academic Stress, Future Career, Family Conflicts, and Family Financial Difficulties (FFD). Friendship, Academic Stress, and Future Career can be considered PS due to personal life events, and Family Conflict and FFD, PS due to network life events. The general sex-limitation model-fitting analysis revealed the absence of qualitative or quantitative sex differences in genetic and environmental influences. Specifically, additive genetic influences were predominant for Friendship (63%), Academic Stress (67%), and Future Career (57%) for both sexes, with the remaining variance attributable to nonshared environmental influences. In contrast, shared environmental influences were largest for Family Conflict (47% for both genders) and FFD (64% for males, 63% for females) with no significant genetic effects. Despite known cultural differences in the means and variances of PS, South Korean twins exhibited significant genetic effects in PS due to personal life events and large shared environmental effects in PS due to network life events, which is similar to western samples.
{"title":"Genetic and Environmental Influences on Perceived Stress in South Korean Twins","authors":"Gwanwoo Jo, Yoon-Mi Hur","doi":"10.1017/thg.2024.21","DOIUrl":"https://doi.org/10.1017/thg.2024.21","url":null,"abstract":"Researchers have proposed that culture significantly influences perceived stress (PS). To date, however, twin studies on PS have been conducted mostly in western, individualistic cultures, which demonstrate that PS due to controllable (personal) life events is more heritable than PS due to uncontrollable (network) life events. This study aimed to investigate genetic and environmental influences on PS in South Korean twins. South Korea practices a dominant collectivist culture. In total, 1372 twin individuals (mean age = 22.4 ± 2.5 years) completed an online survey on PS, which consisted of the scales, Friendship, Academic Stress, Future Career, Family Conflicts, and Family Financial Difficulties (FFD). Friendship, Academic Stress, and Future Career can be considered PS due to personal life events, and Family Conflict and FFD, PS due to network life events. The general sex-limitation model-fitting analysis revealed the absence of qualitative or quantitative sex differences in genetic and environmental influences. Specifically, additive genetic influences were predominant for Friendship (63%), Academic Stress (67%), and Future Career (57%) for both sexes, with the remaining variance attributable to nonshared environmental influences. In contrast, shared environmental influences were largest for Family Conflict (47% for both genders) and FFD (64% for males, 63% for females) with no significant genetic effects. Despite known cultural differences in the means and variances of PS, South Korean twins exhibited significant genetic effects in PS due to personal life events and large shared environmental effects in PS due to network life events, which is similar to western samples.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"86 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140832530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Brisa García-Vilchis, Talia V. Román-López, Diego Ramírez-González, Xanat J. López-Camaño, Vanessa Murillo-Lechuga, Xóchitl Díaz-Téllez, C. Itzamná Sánchez-Moncada, Ian M. Espinosa-Méndez, Diego Zenteno-Morales, Zaida X. Espinosa-Valdes, Sofia Pradel-Jiménez, Andrea Tapia-Atilano, Ana V. Zanabria-Pérez, Federica Livas-Gangas, Oscar Aldana-Assad, Ulises Caballero-Sánchez, César A. Dominguez-Frausto, Miguel E. Rentería, Alejandra Medina-Rivera, Sarael Alcauter, Alejandra E. Ruiz-Contreras
TwinsMX registry is a national research initiative in Mexico that aims to understand the complex interplay between genetics and environment in shaping physical and mental health traits among the country’s population. With a multidisciplinary approach, TwinsMX aims to advance our knowledge of the genetic and environmental mechanisms underlying ethnic variations in complex traits and diseases, including behavioral, psychometric, anthropometric, metabolic, cardiovascular and mental disorders. With information gathered from over 2800 twins, this article updates the prevalence of several complex traits; and describes the advances and novel ideas we have implemented such as magnetic resonance imaging. The future expansion of the TwinsMX registry will enhance our comprehension of the intricate interplay between genetics and environment in shaping health and disease in the Mexican population. Overall, this report describes the progress in the building of a solid database that will allow the study of complex traits in the Mexican population, valuable not only for our consortium, but also for the worldwide scientific community, by providing new insights of understudied genetically admixed populations.
{"title":"TwinsMX: Exploring the Genetic and Environmental Influences on Health Traits in the Mexican Population","authors":"Brisa García-Vilchis, Talia V. Román-López, Diego Ramírez-González, Xanat J. López-Camaño, Vanessa Murillo-Lechuga, Xóchitl Díaz-Téllez, C. Itzamná Sánchez-Moncada, Ian M. Espinosa-Méndez, Diego Zenteno-Morales, Zaida X. Espinosa-Valdes, Sofia Pradel-Jiménez, Andrea Tapia-Atilano, Ana V. Zanabria-Pérez, Federica Livas-Gangas, Oscar Aldana-Assad, Ulises Caballero-Sánchez, César A. Dominguez-Frausto, Miguel E. Rentería, Alejandra Medina-Rivera, Sarael Alcauter, Alejandra E. Ruiz-Contreras","doi":"10.1017/thg.2024.18","DOIUrl":"https://doi.org/10.1017/thg.2024.18","url":null,"abstract":"TwinsMX registry is a national research initiative in Mexico that aims to understand the complex interplay between genetics and environment in shaping physical and mental health traits among the country’s population. With a multidisciplinary approach, TwinsMX aims to advance our knowledge of the genetic and environmental mechanisms underlying ethnic variations in complex traits and diseases, including behavioral, psychometric, anthropometric, metabolic, cardiovascular and mental disorders. With information gathered from over 2800 twins, this article updates the prevalence of several complex traits; and describes the advances and novel ideas we have implemented such as magnetic resonance imaging. The future expansion of the TwinsMX registry will enhance our comprehension of the intricate interplay between genetics and environment in shaping health and disease in the Mexican population. Overall, this report describes the progress in the building of a solid database that will allow the study of complex traits in the Mexican population, valuable not only for our consortium, but also for the worldwide scientific community, by providing new insights of understudied genetically admixed populations.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"16 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140833032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hailey A. Kresge, Freida Blostein, Slavina Goleva, Clara Albiñana, Joana A. Revez, Naomi R. Wray, Bjarni J. Vilhjálmsson, Zhihong Zhu, John J. McGrath, Lea K. Davis
While it is known that vitamin D deficiency is associated with adverse bone outcomes, it remains unclear whether low vitamin D status may increase the risk of a wider range of health outcomes. We had the opportunity to explore the association between common genetic variants associated with both 25 hydroxyvitamin D (25OHD) and the vitamin D binding protein (DBP, encoded by the GC gene) with a comprehensive range of health disorders and laboratory tests in a large academic medical center. We used summary statistics for 25OHD and DBP to generate polygenic scores (PGS) for 66,482 participants with primarily European ancestry and 13,285 participants with primarily African ancestry from the Vanderbilt University Medical Center Biobank (BioVU). We examined the predictive properties of PGS25OHD, and two scores related to DBP concentration with respect to 1322 health-related phenotypes and 315 laboratory-measured phenotypes from electronic health records. In those with European ancestry: (a) the PGS25OHD and PGSDBP scores, and individual SNPs rs4588 and rs7041 were associated with both 25OHD concentration and 1,25 dihydroxyvitamin D concentrations; (b) higher PGS25OHD was associated with decreased concentrations of triglycerides and cholesterol, and reduced risks of vitamin D deficiency, disorders of lipid metabolism, and diabetes. In general, the findings for the African ancestry group were consistent with findings from the European ancestry analyses. Our study confirms the utility of PGS and two key variants within the GC gene (rs4588 and rs7041) to predict the risk of vitamin D deficiency in clinical settings and highlights the shared biology between vitamin D-related genetic pathways a range of health outcomes.
众所周知,维生素 D 缺乏与不良骨质结果有关,但低维生素 D 状态是否会增加更多健康结果的风险,目前仍不清楚。我们有机会在一个大型学术医疗中心探索与 25 羟基维生素 D(25OHD)和维生素 D 结合蛋白(DBP,由 GC 基因编码)相关的常见遗传变异与一系列健康疾病和实验室检测之间的关联。我们使用 25OHD 和 DBP 的汇总统计数据,为范德比尔特大学医学中心生物库 (BioVU) 的 66,482 名主要为欧洲血统的参与者和 13,285 名主要为非洲血统的参与者生成了多基因评分 (PGS)。我们研究了 PGS25OHD 和两个与 DBP 浓度相关的评分对电子健康记录中 1322 种健康相关表型和 315 种实验室测量表型的预测特性。在欧洲血统的人群中:(a) PGS25OHD 和 PGSDBP 评分以及单个 SNPs rs4588 和 rs7041 与 25OHD 浓度和 1,25 二羟维生素 D 浓度相关;(b) PGS25OHD 越高,甘油三酯和胆固醇浓度越低,维生素 D 缺乏症、脂代谢紊乱和糖尿病的风险也越低。总体而言,非洲血统组的研究结果与欧洲血统组的分析结果一致。我们的研究证实了 PGS 和 GC 基因中的两个关键变异(rs4588 和 rs7041)在临床环境中预测维生素 D 缺乏风险的实用性,并强调了维生素 D 相关遗传途径与一系列健康结果之间的共同生物学特性。
{"title":"Phenomewide Association Study of Health Outcomes Associated With the Genetic Correlates of 25 Hydroxyvitamin D Concentration and Vitamin D Binding Protein Concentration","authors":"Hailey A. Kresge, Freida Blostein, Slavina Goleva, Clara Albiñana, Joana A. Revez, Naomi R. Wray, Bjarni J. Vilhjálmsson, Zhihong Zhu, John J. McGrath, Lea K. Davis","doi":"10.1017/thg.2024.19","DOIUrl":"https://doi.org/10.1017/thg.2024.19","url":null,"abstract":"While it is known that vitamin D deficiency is associated with adverse bone outcomes, it remains unclear whether low vitamin D status may increase the risk of a wider range of health outcomes. We had the opportunity to explore the association between common genetic variants associated with both 25 hydroxyvitamin D (25OHD) and the vitamin D binding protein (DBP, encoded by the <jats:italic>GC</jats:italic> gene) with a comprehensive range of health disorders and laboratory tests in a large academic medical center. We used summary statistics for 25OHD and DBP to generate polygenic scores (PGS) for 66,482 participants with primarily European ancestry and 13,285 participants with primarily African ancestry from the Vanderbilt University Medical Center Biobank (BioVU). We examined the predictive properties of PGS<jats:sub>25OHD</jats:sub>, and two scores related to DBP concentration with respect to 1322 health-related phenotypes and 315 laboratory-measured phenotypes from electronic health records. In those with European ancestry: (a) the PGS<jats:sub>25OHD</jats:sub> and PGS<jats:sub>DBP</jats:sub> scores, and individual SNPs rs4588 and rs7041 were associated with both 25OHD concentration and 1,25 dihydroxyvitamin D concentrations; (b) higher PGS<jats:sub>25OHD</jats:sub> was associated with decreased concentrations of triglycerides and cholesterol, and reduced risks of vitamin D deficiency, disorders of lipid metabolism, and diabetes. In general, the findings for the African ancestry group were consistent with findings from the European ancestry analyses. Our study confirms the utility of PGS and two key variants within the <jats:italic>GC</jats:italic> gene (rs4588 and rs7041) to predict the risk of vitamin D deficiency in clinical settings and highlights the shared biology between vitamin D-related genetic pathways a range of health outcomes.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"19 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140634993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"In Memoriam: Dr. Auke Tellegen (July 16, 1930 - March 11, 2024).","authors":"Nancy L Segal","doi":"10.1017/thg.2024.20","DOIUrl":"https://doi.org/10.1017/thg.2024.20","url":null,"abstract":"","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"1-3"},"PeriodicalIF":0.9,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140859058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gestational diabetes mellitus (GDM) is a frequent complication of pregnancy. The specific mechanisms underlying GDM have not yet been fully elucidated. Contemporary research indicates a potential association between liver enzyme irregularities and an increased risk of metabolic disorders, including diabetes. The alanine aminotransferase (ALT) level is recognized as a sensitive marker of liver injury. An increase in ALT levels is hypothesized to be linked to the pathogenesis of insulin resistance and diabetes. Nonetheless, the definitive causal link between ALT levels and GDM still needs to be determined. This investigation utilized two-sample Mendelian randomization (MR) to examine the genetic causation between alanine aminotransferase (ALT) and GDM. We acquired alanine aminotransferase (ALT)-related GWAS summary data from the UK Biobank, Million Veteran Program, Rotterdam Study, and Lifeline Study. Gestational diabetes data were obtained from the FinnGen Consortium. We employed various MR analysis techniques, including inverse-variance weighted (IVW), MR Egger, weighted median, simple, and weighted weighting. In addition to MR-Egger intercepts, Cochrane’s Q test was also used to assess heterogeneity in the MR data, and the MR-PRESSO test was used to assess horizontal pleiotropy. To assess the association’s sensitivity, a leave-one-out approach was employed. The IVW results confirmed the independent risk factor for GDM development, as indicated by the ALT level (p = .011). As shown by leave-one-out analysis, horizontal pleiotrophy did not significantly skew the causative link (p > .05). Our dual-sample MR analysis provides substantiated evidence of a genetic causal relationship between alanine aminotransferase (ALT) levels and gestational diabetes.
{"title":"Genetic Causal Relationship Between Alanine Aminotransferase Levels and Risk of Gestational Diabetes Mellitus: Mendelian Randomization Analysis Based on Two Samples","authors":"Lihua Yin, Yifang Hu, Xiaoxia Hu, Xiaolei Huang, Yingyuan Chen, Yisheng Zhang","doi":"10.1017/thg.2024.16","DOIUrl":"https://doi.org/10.1017/thg.2024.16","url":null,"abstract":"<p>Gestational diabetes mellitus (GDM) is a frequent complication of pregnancy. The specific mechanisms underlying GDM have not yet been fully elucidated. Contemporary research indicates a potential association between liver enzyme irregularities and an increased risk of metabolic disorders, including diabetes. The alanine aminotransferase (ALT) level is recognized as a sensitive marker of liver injury. An increase in ALT levels is hypothesized to be linked to the pathogenesis of insulin resistance and diabetes. Nonetheless, the definitive causal link between ALT levels and GDM still needs to be determined. This investigation utilized two-sample Mendelian randomization (MR) to examine the genetic causation between alanine aminotransferase (ALT) and GDM. We acquired alanine aminotransferase (ALT)-related GWAS summary data from the UK Biobank, Million Veteran Program, Rotterdam Study, and Lifeline Study. Gestational diabetes data were obtained from the FinnGen Consortium. We employed various MR analysis techniques, including inverse-variance weighted (IVW), MR Egger, weighted median, simple, and weighted weighting. In addition to MR-Egger intercepts, Cochrane’s Q test was also used to assess heterogeneity in the MR data, and the MR-PRESSO test was used to assess horizontal pleiotropy. To assess the association’s sensitivity, a leave-one-out approach was employed. The IVW results confirmed the independent risk factor for GDM development, as indicated by the ALT level (<span>p</span> = .011). As shown by leave-one-out analysis, horizontal pleiotrophy did not significantly skew the causative link (<span>p</span> > .05). Our dual-sample MR analysis provides substantiated evidence of a genetic causal relationship between alanine aminotransferase (ALT) levels and gestational diabetes.</p>","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"21 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140616516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Eloisa de Souza Fernandes, Isabella França Ferreira, Renata Pereira de Felipe, Nancy Segal, Emma Otta
The current study was motivated by an interest in deepening understanding of Brazilian twin research, which is underrepresented internationally, in an effort to rectify this situation. Our aim was threefold: (1) to carry out a comprehensive investigation of Brazilian research on twins according to the area of knowledge; (2) to evaluate the representation of research in the field of psychology in comparison with other areas; (3) to evaluate characteristics of the research that may have contributed to its exclusion from the comprehensive meta-analysis of 50 years of twin research. A scoping review was performed according to PRISMA guidelines. Titles and abstracts were searched up to 2022 in six databases: CAPES, BDLTD, PePSIC, PubMed, Google Scholar, and SciELO, using selected keywords both in Portuguese and in English (e.g., ‘twins’ and ‘Brazil’; ‘twinning’ and ‘Brazil’; ‘gemelaridade’ [twinning], and ‘gêmeos’ [twins]). Three hundred and forty publications were included in the review. Approximately half (53.8‰) used the classic twin design to investigate the heritability of several traits, and the other half (46.2%) used other research designs. The scoping review showed that the number of publications doubled approximately every 10 years. Most publications were from the health area, with medicine accounting for approximately half of the studies, followed by psychology, odontology, and biology. We found that the interest in studying twins among Brazilian scientists is increasing over the years and there are reasons to be enthusiastic about the potential impact of this trend in the global scenario.
{"title":"Brazilian Twin Studies: A Scoping Review","authors":"Eloisa de Souza Fernandes, Isabella França Ferreira, Renata Pereira de Felipe, Nancy Segal, Emma Otta","doi":"10.1017/thg.2024.17","DOIUrl":"https://doi.org/10.1017/thg.2024.17","url":null,"abstract":"The current study was motivated by an interest in deepening understanding of Brazilian twin research, which is underrepresented internationally, in an effort to rectify this situation. Our aim was threefold: (1) to carry out a comprehensive investigation of Brazilian research on twins according to the area of knowledge; (2) to evaluate the representation of research in the field of psychology in comparison with other areas; (3) to evaluate characteristics of the research that may have contributed to its exclusion from the comprehensive meta-analysis of 50 years of twin research. A scoping review was performed according to PRISMA guidelines. Titles and abstracts were searched up to 2022 in six databases: CAPES, BDLTD, PePSIC, PubMed, Google Scholar, and SciELO, using selected keywords both in Portuguese and in English (e.g., ‘twins’ and ‘Brazil’; ‘twinning’ and ‘Brazil’; ‘gemelaridade’ [twinning], and ‘gêmeos’ [twins]). Three hundred and forty publications were included in the review. Approximately half (53.8‰) used the classic twin design to investigate the heritability of several traits, and the other half (46.2%) used other research designs. The scoping review showed that the number of publications doubled approximately every 10 years. Most publications were from the health area, with medicine accounting for approximately half of the studies, followed by psychology, odontology, and biology. We found that the interest in studying twins among Brazilian scientists is increasing over the years and there are reasons to be enthusiastic about the potential impact of this trend in the global scenario.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"253 1","pages":""},"PeriodicalIF":0.9,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140576179","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}