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Genetic Predisposition of Different Social Status Indicators in Men and Women. 男性和女性不同社会地位指标的遗传倾向。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-09-09 DOI: 10.1017/thg.2024.23
Martin Fieder, Susanne Huber

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.

虽然有证据表明社会地位具有遗传基础,但对于男女之间以及不同地位指标之间的遗传倾向是否存在差异,以及地位指标的倾向之间是否存在相互关系,我们却知之甚少。因此,我们利用威斯康星纵向研究(Wisconsin Longitudinal Study)获得的多基因评分,分别调查了男性和女性不同社会地位指标的遗传倾向。我们将 7 种不同的社会地位指标与总共 24 种不同的多基因分数进行了多变量多基因回归。我们发现,在男性和女性中,工资和教育比其他地位指标与多基因分数的关联更大。此外,在男性和女性中,教育和工资的遗传倾向是相关的,而在男性中,遗传倾向似乎更多地与工资和教育相关,与等级制度中的地位指标相关,而管理职位则介于两者之间。这些发现与认知技能或优势相关的两种不同形式的选择压力的假设是一致的,这在男性中尤其适用。我们的结论是,尽管社会地位这一文化特征的重要性可能一直保持不变,但遗传上对较高社会地位的倾向可能已经发生了变化。因此,社会地位可能是社会特征重要性不变,但遗传倾向不断变化的一个例子。
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引用次数: 0
Maternal Characteristics in Natural and Medically Assisted Reproduction Dizygotic Twin Pregnancies. 自然和医学辅助生殖双卵双胎妊娠的母体特征。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-09-06 DOI: 10.1017/thg.2024.26
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。
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引用次数: 0
Association Between Rheumatoid Arthritis and Clonal Hematopoiesis: A Mendelian Randomization Study. 类风湿性关节炎与克隆性造血之间的关系:孟德尔随机研究
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-06-03 DOI: 10.1017/thg.2024.24
Jie Zhang, Chun Zhou, Shaoxing Guan

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.

免疫激活和炎症是类风湿性关节炎和克隆性造血的主要特征。然而,类风湿性关节炎是否会增加克隆性造血的风险仍不清楚。在此,我们采用孟德尔随机分析法(MR)来探讨类风湿性关节炎对克隆性造血的因果关系。我们选取了一项全基因组关联研究得出的类风湿关节炎(13838 例病例和 33742 例对照)和克隆性造血(10203 例病例和 173918 例对照)的汇总统计数据进行分析。我们选择了逆方差加权、MR-Egger、加权中位数、简单模式和加权模式来评估类风湿性关节炎对克隆性造血的因果效应。通过反方差加权法(OR = 1.002311673,95% CI [1.000110757,1.004517433],p = .039706)和加权中值法(OR = 1.002311673,95% CI [1.000110757,1.004517433],p = .039518447),双样本 MR 分析表明类风湿性关节炎与克隆性造血之间存在很强的因果关系。在敏感性分析中没有发现明显的多义性或异质性。这些结果支持类风湿性关节炎与克隆性造血之间存在潜在的因果关系,暴露于类风湿性关节炎会增加克隆性造血的风险。我们的研究结果突显了慢性炎症和免疫激活如何诱导类风湿性关节炎增加克隆性造血风险的重要性,对类风湿性关节炎患者进行早期干预可能会降低类风湿性关节炎患者的克隆性造血风险。此外,我们的研究还为预测克隆性造血的风险因素和潜在机制提供了线索。
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引用次数: 0
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. 双胞胎代替同卵双胞胎:解释与推测/双胞胎研究综述:单胚胎移植与多胚胎移植;患有室周结节性异位症的双胞胎的神经成像;双胞胎饮食研究;匈牙利关于双胞胎的新文本/人类兴趣:毕业典礼上的双胞胎姐妹;七十岁的双胞胎母亲;双胞胎通过 Tiktok 重聚;关于患有选择性缄默症的双胞胎的新电影;成为双胞胎医生。
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-05-13 DOI: 10.1017/thg.2024.22
Nancy L Segal

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.

本文概述了双胞胎代替同卵双胞胎的情况。为理解双胞胎在某些情况下愿意这样做提出了各种解释和推测。随后,文章回顾了一些适时的双胞胎研究,包括单胚胎移植与多胚胎移植;患有室周结节性异位症的双胞胎的神经影像学;双胞胎饮食比较;以及来自匈牙利的一本与双胞胎相关的新书。这篇文章的最后一部分涉及既能提供信息又能娱乐的人文趣事。这些故事包括:告别演说家和致敬演说家双胞胎;一位母亲在七十岁时生下双胞胎;双胞胎通过 TikTok 重聚;一部关于患有选择性缄默症的双胞胎的新电影;以及双胞胎成为医生。
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引用次数: 0
Genetic and Environmental Influences on Perceived Stress in South Korean Twins 遗传和环境对韩国双胞胎感知压力的影响
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-05-03 DOI: 10.1017/thg.2024.21
Gwanwoo Jo, Yoon-Mi Hur
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.
研究人员提出,文化对感知压力(PS)有重大影响。然而,迄今为止,有关 "感知压力 "的双生子研究大多是在西方个人主义文化中进行的,这些研究表明,可控(个人)生活事件导致的 "感知压力 "比不可控(网络)生活事件导致的 "感知压力 "更容易遗传。本研究旨在调查遗传和环境对韩国双胞胎 PS 的影响。韩国奉行占主导地位的集体主义文化。共有 1372 名双胞胎(平均年龄 = 22.4 ± 2.5 岁)完成了关于 PS 的在线调查,其中包括友谊、学业压力、未来职业、家庭冲突和家庭经济困难(FFD)等量表。友谊、学业压力和未来职业生涯可视为个人生活事件引起的 PS,而家庭冲突和家庭经济困难则是网络生活事件引起的 PS。一般的性别限制模型拟合分析表明,遗传和环境影响因素不存在定性或定量的性别差异。具体来说,男女两性在友谊(63%)、学业压力(67%)和未来职业(57%)方面都主要受到遗传的叠加影响,其余的变异归因于非共享环境影响。相比之下,共同环境对家庭冲突(男女均为 47%)和 FFD(男性为 64%,女性为 63%)的影响最大,而遗传效应并不显著。尽管PS的均值和方差存在已知的文化差异,但韩国双胞胎在个人生活事件导致的PS中表现出显著的遗传效应,而在网络生活事件导致的PS中表现出巨大的共享环境效应,这与西方样本相似。
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引用次数: 0
TwinsMX: Exploring the Genetic and Environmental Influences on Health Traits in the Mexican Population TwinsMX:探索墨西哥人口健康特征的遗传和环境影响因素
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-05-03 DOI: 10.1017/thg.2024.18
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.
TwinsMX 登记册是墨西哥的一项国家研究计划,旨在了解遗传与环境在塑造墨西哥人口身心健康特征方面的复杂相互作用。TwinsMX 采用多学科方法,旨在增进我们对复杂特征和疾病(包括行为、心理测量、人体测量、新陈代谢、心血管和精神疾病)的种族差异背后的遗传和环境机制的了解。本文利用从 2800 多对双胞胎收集到的信息,更新了几种复杂特征的患病率,并介绍了我们所取得的进展和新想法,如磁共振成像。未来,TwinsMX 登记处的扩展将使我们更深入地了解遗传和环境在塑造墨西哥人健康和疾病方面错综复杂的相互作用。总之,本报告介绍了在建立一个可靠的数据库方面所取得的进展,该数据库将有助于研究墨西哥人口的复杂特征,不仅对我们的研究小组有价值,而且对全世界的科学界也有价值,因为它为研究不足的基因混杂人群提供了新的见解。
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引用次数: 0
Phenomewide Association Study of Health Outcomes Associated With the Genetic Correlates of 25 Hydroxyvitamin D Concentration and Vitamin D Binding Protein Concentration 与 25 羟基维生素 D 浓度和维生素 D 结合蛋白浓度的遗传相关性有关的健康结果的全基因组关联研究
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-04-22 DOI: 10.1017/thg.2024.19
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。
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引用次数: 0
In Memoriam: Dr. Auke Tellegen (July 16, 1930 - March 11, 2024). 悼念Auke Tellegen 博士(1930 年 7 月 16 日 - 2024 年 3 月 11 日)。
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-04-19 DOI: 10.1017/thg.2024.20
Nancy L Segal
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引用次数: 0
Genetic Causal Relationship Between Alanine Aminotransferase Levels and Risk of Gestational Diabetes Mellitus: Mendelian Randomization Analysis Based on Two Samples 丙氨酸氨基转移酶水平与妊娠糖尿病风险之间的遗传因果关系:基于两个样本的孟德尔随机分析
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-04-18 DOI: 10.1017/thg.2024.16
Lihua Yin, Yifang Hu, Xiaoxia Hu, Xiaolei Huang, Yingyuan Chen, Yisheng Zhang

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.

妊娠糖尿病(GDM)是一种常见的妊娠并发症。妊娠糖尿病的具体机制尚未完全阐明。当代研究表明,肝酶不正常与代谢紊乱(包括糖尿病)风险增加之间存在潜在联系。丙氨酸氨基转移酶(ALT)水平被认为是肝损伤的敏感标志物。ALT 水平的升高被认为与胰岛素抵抗和糖尿病的发病机制有关。然而,ALT 水平与 GDM 之间的明确因果关系仍有待确定。本研究利用双样本孟德尔随机化法(MR)研究丙氨酸氨基转移酶(ALT)与 GDM 之间的遗传因果关系。我们从英国生物库、百万退伍军人计划、鹿特丹研究和生命线研究中获得了丙氨酸氨基转移酶(ALT)相关的 GWAS 总结数据。妊娠糖尿病数据来自芬兰基因联盟(FinnGen Consortium)。我们采用了多种 MR 分析技术,包括逆方差加权(IVW)、MR Egger、加权中位数、简单加权和加权加权。除了 MR-Egger 截距外,我们还使用 Cochrane's Q 检验来评估 MR 数据中的异质性,并使用 MR-PRESSO 检验来评估水平多向性。为了评估关联的敏感性,采用了 "留一剔除 "的方法。IVW 结果证实,ALT 水平是 GDM 发生的独立风险因素(p = .011)。正如撇除分析所显示的,水平多重营养不良并没有明显偏离因果联系(p >.05)。我们的双样本磁共振分析为丙氨酸氨基转移酶(ALT)水平与妊娠糖尿病之间的遗传因果关系提供了确凿的证据。
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引用次数: 0
Brazilian Twin Studies: A Scoping Review 巴西双胞胎研究:范围审查
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-04-15 DOI: 10.1017/thg.2024.17
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.
巴西的双胞胎研究在国际上的代表性不足,本研究的动机是加深对巴西双胞胎研究的了解,以努力纠正这种状况。我们的目的有三:(1) 根据知识领域对巴西的双胞胎研究进行全面调查;(2) 与其他领域相比,评估心理学领域研究的代表性;(3) 评估可能导致其被排除在 50 年双胞胎研究综合荟萃分析之外的研究特点。根据 PRISMA 指南进行了范围界定审查。在六个数据库中检索了截至 2022 年的标题和摘要:使用选定的葡萄牙语和英语关键词(如 "双胞胎 "和 "巴西";"孪生 "和 "巴西";"gemelaridade"[孪生]和 "gêmeos"[双胞胎])在 CAPES、BDLTD、PePSIC、PubMed、Google Scholar 和 SciELO 等六个数据库中检索了截至 2022 年的论文标题和摘要。有 340 篇出版物被纳入审查范围。其中约一半(53.8‰)采用经典的双胞胎设计来研究几种性状的遗传率,另一半(46.2%)采用其他研究设计。范围审查显示,出版物的数量大约每 10 年翻一番。大多数出版物来自健康领域,其中医学研究约占一半,其次是心理学、牙科学和生物学。我们发现,近年来巴西科学家对双胞胎研究的兴趣与日俱增,我们有理由对这一趋势在全球范围内的潜在影响充满热情。
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Twin Research and Human Genetics
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