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Placental Vascular Anastamoses and Associated Pathologies in Dichorionic Twin Gestations. 二绒毛膜双胎妊娠的胎盘血管吻合及相关病理。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-11-07 DOI: 10.1017/thg.2024.35
Eesha Dave, Mert Ozan Bahtiyar, William Campbell, Raffaella Morotti, Katherine Kohari

Placental vascular anastomoses are traditionally thought to exist exclusively in monochorionic pregnancies. However, they have been reported in dichorionic twin pregnancies as well. In turn, twin to twin transfusion syndrome (TTTS) and twin anemia polycythemia sequence (TAPS) have also been noted to impact some of these gestations. Through discussion of one such case at our institution along with a review of the available literature, we review the proposed pathophysiology of placental vascular anastamoses in dichorionic twin gestations, and aim to raise awareness of the possibility of associated pathologies in dichorionic gestations. This is an emerging area of literature that will require future study to guide prenatal surveillance and mitigate morbidity.

传统上认为胎盘血管吻合只存在于单绒毛膜妊娠中。然而,也有报道称二绒毛膜双胎妊娠也会出现胎盘血管吻合。反过来,双胎输血综合征(TTTS)和双胎贫血多血症序列(TAPS)也对这些妊娠产生了影响。通过对我院一例此类病例的讨论以及对现有文献的回顾,我们回顾了二绒毛膜双胎妊娠胎盘血管吻合的病理生理学,旨在提高人们对二绒毛膜双胎妊娠相关病理可能性的认识。这是一个新兴的文献领域,需要未来的研究来指导产前监测和降低发病率。
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引用次数: 0
Twin Data Support a Sensitive Period for Singing Ability. 双胞胎数据支持歌唱能力的敏感期
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-10-02 DOI: 10.1017/thg.2024.30
Daniel Yeom, Nick Haslam, Yi Ting Tan, Gary E McPherson, Sarah J Wilson

As with many other musical traits, the social environment is a key influence on the development of singing ability. While the familial singing environment is likely to be formative, its role relative to other environmental influences such as training is unclear. We used structural equation modeling to test relationships among demographic characteristics, familial environmental variables (early and current singing with family), vocal training, and singing ability in a large, previously documented sample of Australian twins (N = 1163). Notably, early singing with family, and to a lesser extent vocal training, predicted singing ability, whereas current singing with family did not. Early familial singing also mediated the relationship between sex and singing ability, with men who sang less with family during childhood showing poorer ability. Bivariate twin models between early familial singing and singing ability showed the phenotypic correlation was largely explained by shared environmental influences. This raises the possibility of a sensitive period for singing ability, with sociocultural expectations around singing potentially differentiating the developmental trajectories of this skill for men and women.

与许多其他音乐特征一样,社会环境对歌唱能力的发展具有关键影响。虽然家庭歌唱环境很可能是形成性的,但它相对于其他环境影响因素(如训练)的作用还不清楚。我们使用结构方程模型,在一个大型的、先前有记录的澳大利亚双胞胎样本(样本数=1163)中,检验了人口统计学特征、家庭环境变量(早期和当前与家人一起唱歌)、声乐训练和歌唱能力之间的关系。值得注意的是,早期与家人一起唱歌,其次是声乐训练,可以预测歌唱能力,而目前与家人一起唱歌则不能。早期与家人一起唱歌还能调节性别与歌唱能力之间的关系,童年时期与家人一起唱歌较少的男性歌唱能力较差。早期家庭歌唱与歌唱能力之间的双变量双胞胎模型显示,表型相关性在很大程度上是由共同的环境影响所解释的。这就提出了歌唱能力敏感期的可能性,围绕歌唱的社会文化期望可能会区分男性和女性的这一技能的发展轨迹。
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引用次数: 0
Breastfeeding Practices in the Twin Town of India - A Cross-Sectional Study. 印度双城镇的母乳喂养实践--一项横断面研究。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-10-02 DOI: 10.1017/thg.2024.31
Geeta Bhardwaj, Moonjelly V Smitha

The global rise in twinning rates poses health challenges due to increased risks for infants and mothers. Despite the benefits, breastfeeding rates among multiples are low, with exclusive breastfeeding (EBF) particularly scarce compared to singletons. Our study focuses on the mothers of twins in a unique population in Kodinhi village, Kerala, India, known for its high twinning rates, which aims to contribute to existing knowledge of breastfeeding practices and perspectives in a high twinning environment and offer valuable insights to promote optimal breastfeeding among mothers of twins. A retrospective cross-sectional survey was adopted. Seventy-five mothers with twins under 3 years of age from Kodinhi and neighboring areas were interviewed face to face using structured validated tools. Data collection focused on quantitative data supplemented by narrative descriptions. Most women delivered preterm (57.3%), operative delivery (58.7%), and had a late initiation of breastfeeding (32.9% within 24 hours). Colostrum feed was common (86.7%). The EBF rate was 4%, with 47.9% initiating nonexclusive breastfeeding before 3 months, and most of the twins (46.6%) were breastfed for 1-2 years. Fatigue (69.9%) and low milk supply (38.7%) were chief concerns. While 16.4% of mothers opted for a tandem breastfeeding technique, many preferred consecutive feeding as tandem was challenging. Mothers in Kodinhi demonstrated commendable efforts in breastfeeding twins; despite the low rate of EBF, breastfeeding extended to 1-2 years. Evidence-based interventions and personalized support, primarily focusing on maternal perspectives of milk insufficiency, fatigue and breastfeeding techniques, are crucial for sustaining optimal breastfeeding practices among mothers of twins.

由于婴儿和母亲面临的风险增加,全球双胞胎率的上升给健康带来了挑战。尽管多胞胎有很多好处,但母乳喂养率却很低,与单胎相比,纯母乳喂养(EBF)尤其缺乏。我们的研究侧重于印度喀拉拉邦 Kodinhi 村的双胞胎母亲,该村因双胞胎率高而闻名,我们的研究旨在为双胞胎母亲在双胞胎率高的环境中母乳喂养的实践和观点的现有知识做出贡献,并为促进双胞胎母亲的最佳母乳喂养提供有价值的见解。研究采用了回顾性横断面调查。使用结构化验证工具,对来自科迪尼和邻近地区的 75 名 3 岁以下双胞胎母亲进行了面对面访谈。数据收集以定量数据为主,辅以叙述性描述。大多数产妇都是早产(57.3%)、手术分娩(58.7%),而且开始母乳喂养的时间较晚(32.9%在 24 小时内)。初乳喂养很常见(86.7%)。母乳喂养率为 4%,其中 47.9% 在 3 个月前开始非纯母乳喂养,大多数双胞胎(46.6%)的母乳喂养时间为 1-2 年。疲劳(69.9%)和奶量不足(38.7%)是主要问题。虽然有 16.4% 的母亲选择了串联式母乳喂养技术,但由于串联式喂养具有挑战性,许多母亲更倾向于连续喂养。科迪尼的母亲们在双胞胎母乳喂养方面做出了值得称赞的努力;尽管母乳喂养率较低,但母乳喂养的时间却延长到了 1-2 年。以证据为基础的干预措施和个性化支持,主要侧重于母亲对奶水不足、疲劳和母乳喂养技巧的看法,对于双胞胎母亲保持最佳母乳喂养方法至关重要。
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引用次数: 0
Exploring the Link Between Parental Sociodemographic Characteristics and Multiple Births: Insights from National Birth Data in Japan, 1995-2020. 探索父母的社会人口特征与多胞胎之间的联系:1995-2020 年日本全国出生数据的启示》。
IF 1 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2024-08-01 Epub Date: 2024-10-03 DOI: 10.1017/thg.2024.36
Tasuku Okui, Naoki Nakashima

This present study investigated the parental characteristics of multiple births using national birth data in Japan. This study included birth data from Vital Statistics: Occupational and Industrial Aspects every five fiscal years from 1995 to 2020. The multiple birth rates were defined as the number of live-birth deliveries with multiple fetuses (e.g., twins, triplets) per total live-birth deliveries. Parental ages, nationalities, occupations and household occupation (occupation of the top earner of the household) were considered as parental characteristics. The multiple birth rates were calculated based on parental characteristics for each year, and a log-binomial regression model was used to assess the association between parental characteristics and multiple births. The multiple birth rate for Japanese mothers consistently exceeded that for non-Japanese mothers over the years, and the rate increased progressively from manual workers to lower non-manual workers and then to upper non-manual workers for both maternal and paternal occupations. The regression results indicated that the risk ratio (RR) for multiple births among non-Japanese mothers was significantly lower than that among Japanese mothers. Moreover, concerning household occupation, the RRs of self-employed individuals, full-time employees at smaller companies, others, and the unemployed were significantly lower than those of full-time employees at larger companies. Furthermore, the RRs of lower non-manual and manual workers were significantly lower than those of upper non-manual workers in maternal and paternal occupations. The results suggested an association between multiple births and parental socioeconomic status in Japan.

本研究利用日本全国出生数据调查了多胞胎父母的特征。这项研究包括生命统计中的出生数据:从 1995 年到 2020 年,每五个财政年度都会发布一次《生命统计:职业和工业方面》中的出生数据。多胎率的定义是多胎(如双胞胎、三胞胎)活产数占总活产数的比例。父母的年龄、国籍、职业和家庭职业(家庭收入最高者的职业)被视为父母的特征。根据每年的父母特征计算多胎率,并使用对数二叉回归模型评估父母特征与多胎之间的关系。多年来,日本籍母亲的多胎率一直高于非日本籍母亲的多胎率,而且在母亲和父亲的职业中,多胎率从体力劳动者逐渐上升到低级非体力劳动者,然后再上升到高级非体力劳动者。回归结果显示,非日本籍母亲的多胎风险比(RR)明显低于日本籍母亲。此外,在家庭职业方面,自营职业者、小公司全职雇员、其他人和失业者的风险比明显低于大公司全职雇员。此外,在母亲和父亲的职业中,低等非体力劳动者和体力劳动者的 RRs 明显低于高等非体力劳动者。结果表明,在日本,多胞胎与父母的社会经济地位有关。
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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
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Twin Research and Human Genetics
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