Twin Research and Human Genetics最新文献_第7页

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 1.2 4区医学

Twin Research and Human Genetics Pub Date : 2024-06-01 Epub Date: 2024-06-03 DOI: 10.1017/thg.2024.24

Jie Zhang, Chun Zhou, Shaoxing Guan

{"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":"10.1017/thg.2024.24","url":null,"abstract":"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.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":" ","pages":"169-173"},"PeriodicalIF":1.2,"publicationDate":"2024-06-01","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}

引用次数: 0

Twins and Their Risks of Cancer as Children, Teenagers or Young Adults: Updated Meta-Analysis and Retrospective Swedish Cohort Study. 双胞胎及其儿童、青少年和青年癌症风险：最新荟萃分析和回顾性瑞典队列研究

IF 1.2 4区医学

Twin Research and Human Genetics Pub Date : 2024-06-01 Epub Date: 2024-10-18 DOI: 10.1017/thg.2024.25

Michael F G Murphy, Jian-Rong He, Rema Ramakrishnan, Carrie L Williams, Bowang Chen, Kari Hemminki

{"title":"Twins and Their Risks of Cancer as Children, Teenagers or Young Adults: Updated Meta-Analysis and Retrospective Swedish Cohort Study.","authors":"Michael F G Murphy, Jian-Rong He, Rema Ramakrishnan, Carrie L Williams, Bowang Chen, Kari Hemminki","doi":"10.1017/thg.2024.25","DOIUrl":"10.1017/thg.2024.25","url":null,"abstract":"We investigated whether an observed reduction in overall childhood cancer risk (<15 years of age) in twins has been sustained, and how this extends into young adulthood. We searched for English language publications reporting childhood cancer risk in twins, obtained unpublished data directly from some authors, and updated a meta-analysis. We used the Swedish Multigeneration Register to investigate the age to which the reduced overall risk of childhood cancer (observed previously using that Swedish dataset and in this and earlier meta-analyses) persisted into the teenage/young adult years, and which specific tumors accounted for the overall risk reduction beyond childhood. Our meta-analysis of studies of aggregate childhood cancer risk in twins confirmed their approximate 15% reduction in cancer mortality and incidence. Further analysis of Swedish Multigeneration Register data for 1958 to 2002 suggested these reduced risks of cancer (particularly leukaemias and renal tumors) extended from childhood to young adult ages. Reduced risks of these and some other specific tumor types occurring across childhood/teenage/young adult years appeared to account for most of the overall risk reduction. Our results suggest a persistent reduction of overall childhood cancer risk in twins and that this extends into young adulthood. Risk reductions for several specific tumors might account for this and, although there are several potential explanations, intrauterine growth patterns of twins might be a major contributor.","PeriodicalId":23446,"journal":{"name":"Twin Research and Human Genetics","volume":"27 3","pages":"142-151"},"PeriodicalIF":1.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144822731","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}

引用次数: 0

The Impossible Dream - Panmixia. 不可能实现的梦想 - Panmixia.

IF 1.2 4区医学

Twin Research and Human Genetics Pub Date : 2024-06-01 Epub Date: 2024-02-27 DOI: 10.1017/thg.2024.6

Alan E Stark

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

Twin Research and Human Genetics Pub Date : 2024-05-03 DOI: 10.1017/thg.2024.21

Gwanwoo Jo, Yoon-Mi Hur

{"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}

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

Twin Research and Human Genetics 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

{"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}

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

Twin Research and Human Genetics 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

{"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 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.","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}

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

Twin Research and Human Genetics Pub Date : 2024-04-19 DOI: 10.1017/thg.2024.20

Nancy L Segal

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

Twin Research and Human Genetics Pub Date : 2024-04-18 DOI: 10.1017/thg.2024.16

Lihua Yin, Yifang Hu, Xiaoxia Hu, Xiaolei Huang, Yingyuan Chen, Yisheng Zhang

{"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":"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.","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}

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

Twin Research and Human Genetics 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

{"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}

引用次数: 0

THG volume 27 issue 2 Cover. THG 第 27 卷第 2 期封面。

IF 0.9 4区医学

Twin Research and Human Genetics Pub Date : 2024-04-01 Epub Date: 2024-05-29 DOI: 10.1017/thg.2024.28

引用次数: 0