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Handedness and 23 Early Life Characteristics in 37,495 Dutch Twins. 37495对荷兰双胞胎的手巧和23个早期生活特征。
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2023-06-01 Epub Date: 2023-07-14 DOI: 10.1017/thg.2023.23
Veronika V Odintsova, Jenny van Dongen, Catharina E M van Beijsterveldt, Lannie Ligthart, Gonneke Willemsen, Eco J C de Geus, Conor V Dolan, Dorret I Boomsma

In studies of singletons, a range of early-life characteristics have been reported to be associated with handedness, but some of these associations have failed to replicate. We examined associations between 23 early life characteristics with handedness in a large sample of 37,495 5-year-old twins. We considered three definitions of handedness: left-handedness (LH), mixed-handedness (MH), and non-right-handedness (NRH). Our main aim was to test whether the associations with sex, birth weight, gestational age, and season of birth - as reported in singletons - replicate in twins, and to examine twin-specific variables, including zygosity, chorionicity, birth order, and intertwin delivery time. Compared to previously published data from adults born as singletons (7.23%), the prevalence of NRH was higher in both twins (16.19%) and their parents (15.09%). In the twins, LH and NRH were associated with parents' LH. Male sex and lower gestational age were associated with NRH, and LH was associated with not being breastfed. MH was related to neurodevelopmental delays and higher externalizing problems later in childhood. Other previously reported associations were not replicated, and no twin-specific characteristics were related to handedness. These results emphasize the importance of considering multiple definitions of handedness and indicate a small number of replicated associations across studies.

在对单身人士的研究中,据报道,一系列早期生活特征与利手习惯有关,但其中一些关联未能复制。我们在37495对5岁双胞胎的大样本中研究了23种早期生活特征与利手习惯之间的关系。我们考虑了利手性的三个定义:左手利手(LH)、混合利手(MH)和非右手利手(NRH)。我们的主要目的是测试与性别、出生体重、胎龄和出生季节的相关性(如单胎中所报道的)是否在双胞胎中复制,并检查双胞胎的特定变量,包括合子率、绒毛膜性、出生顺序和产程间时间。与之前公布的单身成年人(7.23%)的数据相比,双胞胎(16.19%)及其父母(15.09%)的NRH患病率更高。在双胞胎中,LH和NRH与父母的LH相关。男性和低胎龄与NRH相关,LH与未母乳喂养相关。MH与儿童后期的神经发育迟缓和更高的外化问题有关。其他先前报道的关联没有被复制,也没有双胞胎特有的特征与利手性有关。这些结果强调了考虑多个利手定义的重要性,并表明研究中存在少量重复的关联。
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引用次数: 0
Genetic and Environmental Influences on Blood Pressure and Serum Lipids Across Age-Groups. 遗传和环境对不同年龄组血压和血脂的影响。
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2023-06-01 Epub Date: 2023-08-31 DOI: 10.1017/thg.2023.25
Ke Miao, Yutong Wang, Weihua Cao, Jun Lv, Canqing Yu, Tao Huang, Dianjianyi Sun, Chunxiao Liao, Yuanjie Pang, Runhua Hu, Zengchang Pang, Min Yu, Hua Wang, Xianping Wu, Yu Liu, Wenjing Gao, Liming Li

Aging plays a crucial role in the mechanisms of the impacts of genetic and environmental factors on blood pressure and serum lipids. However, to our knowledge, how the influence of genetic and environmental factors on the correlation between blood pressure and serum lipids changes with age remains to be determined. In this study, data from the Chinese National Twin Registry (CNTR) were used. Resting blood pressure, including systolic and diastolic blood pressure (SBP and DBP), and fasting serum lipids, including total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) and triglycerides (TGs) were measured in 2378 participants (1189 twin pairs). Univariate and bivariate structural equation models examined the genetic and environmental influences on blood pressure and serum lipids among three age groups. All phenotypes showed moderate to high heritability (0.37-0.59) and moderate unique environmental variance (0.30-0.44). The heritability of all phenotypes showed a decreasing trend with age. Among all phenotypes, SBP and DBP showed a significant monotonic decreasing trend. For phenotype-phenotype pairs, the phenotypic correlation (Rph) of each pair ranged from -0.04 to 0.23, and the additive genetic correlation (Ra) ranged from 0.00 to 0.36. For TC&SBP, TC&DBP, TG&SBP and TGs&DBP, both the Rph and Ra declined with age, and the Ra difference between the young group and the older adult group is statistically significant (p < .05). The unique environmental correlation (Re) of each pair did not follow any pattern with age and remained relatively stable with age. In summary, we observed that the heritability of blood pressure was affected by age. Moreover, blood pressure and serum lipids shared common genetic backgrounds, and age had an impact on the phenotypic correlation and genetic correlations.

衰老在遗传和环境因素影响血压和血脂的机制中起着至关重要的作用。然而,据我们所知,遗传和环境因素如何影响血压和血脂随年龄变化的相关性仍有待确定。在这项研究中,使用了来自中国国家双胞胎登记处(CNTR)的数据。测量了2378名参与者(1189对双胞胎)的静息血压,包括收缩压和舒张压(SBP和DBP),以及空腹血脂,包括总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆甾醇(LDL-C)和甘油三酯(TG)。单变量和双变量结构方程模型研究了三个年龄组的遗传和环境对血压和血脂的影响。所有表型均表现出中高遗传力(0.37-0.59)和中等独特环境方差(0.30-0.44),所有表型的遗传力均随年龄呈下降趋势。在所有表型中,SBP和DBP呈显著的单调下降趋势。对于表型-表型对,每对的表型相关性(Rph)在-0.04至0.23之间,加性遗传相关性(Ra)在0.00至0.36之间。对于TC&SBP、TC&DBP、TG&SBP和TGs&DBP,Rph和Ra均随年龄下降,年轻组和老年组之间的Ra差异具有统计学意义(p<.05)。每对的独特环境相关性(Re)不随年龄而变化,且随年龄保持相对稳定。总之,我们观察到血压的遗传力受年龄的影响。此外,血压和血脂具有共同的遗传背景,年龄对表型相关性和遗传相关性有影响。
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引用次数: 0
Assisted Reproduction and Discussion of Rare Cases in Monozygotic Twinning. 单卵双胞胎的辅助生殖及罕见病例的探讨。
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2023-06-01 Epub Date: 2023-06-08 DOI: 10.1017/thg.2023.22
Yuge Tan

Assisted reproductive technology is a crucial factor that increases the incidence of monozygotic twinning in humans. This article discusses the impact of various indicators in assisted reproductive technology studies on pregnancy outcomes, especially studies with a large number of clinical cases. Furthermore, three rare cases in multiples pregnancy are discussed: fetus papyraceous of a pair of male monozygotic twins in a set of triplets, two pairs of sesquizygotic twins with sex-discordance, and rare conjoined triplets.

辅助生殖技术是增加人类单卵双胞胎发生率的一个关键因素。本文讨论了辅助生殖技术研究中的各种指标对妊娠结局的影响,特别是对大量临床病例的研究。此外,还讨论了三种罕见的多胎妊娠病例:一对三胞胎中的一对雄性单卵双胞胎的胎儿纸状体,两对性别不一致的倍半卵双胞胎,以及罕见的连体三胞胎。
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引用次数: 0
Twin Research and Human Genetics - News, Views & Comments: Memoirs and Autobiographies by Twins: Research Angles and Human Interest/Twin Research Reviews: Fetal Reduction in Twin Pregnancy; Twins' Personality and Military Service; Growth Restriction in Twins; Advances in Conjoined Twin Separation/Media Reports: Update on Scientist Who Performed Gene Editing on Twins; Twins From 33-Year-Old Embryos; Twins' Outcomes From Dietary Differences; Fraternal Twins With the World's Largest Height Difference; Twin Home Experts Conquer Rat Infestation. 双胞胎研究和人类遗传学-新闻、观点和评论:双胞胎回忆录和自传:研究角度和人类兴趣/双胞胎研究评论:双胎妊娠中的胎儿减少;双胞胎的个性与服役;双胞胎生长受限;结合双胞胎分离的进展/媒体报道:对双胞胎进行基因编辑的科学家的最新进展;33岁胚胎双胞胎;饮食差异对双胞胎的影响;世界上身高差距最大的兄弟双胞胎;双胞胎家庭专家攻克鼠患。
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2023-06-01 Epub Date: 2023-07-04 DOI: 10.1017/thg.2023.21
Nancy L Segal

Twins' memoirs and autobiographies both enlighten and entertain. These works, often overlooked by researchers, may suggest new avenues for investigation, such as nonshared environmental events that propel twins in different directions. Of course, MZ twins' generally parallel experiences and DZ twins generally criss-crossing paths are the bases of fascinating life stories. The following sections examined recent research on fetal reduction in twin pregnancy, twins' personality and military service, growth restriction in twins, and advances in conjoined twin separation. This article closes with reports of a scientist who performed gene editing on twins, a twin conception from 33-year-old embryos, twins' physical outcomes from dietary differences, fraternal twins with the world's largest height difference and the Twin Home Experts who conquer rat infestation in New York.

双胞胎的回忆录和自传体既启发人又娱乐人。这些经常被研究人员忽视的工作可能为研究提供了新的途径,例如将双胞胎推向不同方向的非共享环境事件。当然,MZ双胞胎通常平行的经历和DZ双胞胎通常纵横交错的道路是引人入胜的人生故事的基础。以下部分介绍了最近关于双胞胎妊娠中胎儿减少、双胞胎的个性和服役、双胞胎的生长限制以及连体双胞胎分离的进展的研究。这篇文章的结尾是一位科学家的报告,他对双胞胎进行了基因编辑,33岁胚胎中的双胞胎受孕,饮食差异导致的双胞胎身体结果,世界上身高差异最大的异卵双胞胎,以及在纽约战胜鼠患的双生子之家专家。
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引用次数: 0
Causal Relationship Between Inflammation and Preeclampsia: Genetic Evidence from a Mendelian Randomization Study. 炎症和先兆子痫之间的因果关系:来自孟德尔随机化研究的遗传学证据。
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2023-06-01 Epub Date: 2023-07-17 DOI: 10.1017/thg.2023.27
Qiongxiang Zhong, Chanjiao Yao, Wei Zhong

Preeclampsia (PE) is a hypertensive disorder of pregnancy. PE patients were reported to have higher serum levels of C-reactive protein (CRP), interleukin-6 (IL-6) and tumor necrosis factor α (TNF-α) than those in healthy controls. However, whether the expressions of these inflammation biomarkers have a causal relationship with PE is unspecified. We applied the Mendelian randomization method to infer the causal relationship between inflammation biomarkers (e.g., CRP, IL-6, interleukin 1 receptor antagonist [IL-1ra] and TNF-α) and PE. Single nucleotide polymorphisms (SNPs) strongly related to inflammation biomarkers were used as instrumental variables. CRP, IL-1ra and IL-6 levels showed no significant effect on PE progression, while the genetic predicted higher level of TNF-α significantly increased the risk of PE (OR per 1-SD increase in TNF-α: 4.33; 95% CI [1.99, 9.39]; p = .00021). The findings suggest that pro-inflammatory activity of TNF-α could be a determinant for PE progression. More antenatal care should be given to those pregnant women with higher level of inflammation biomarkers, especially TNF-α.

先兆子痫(PE)是一种妊娠期高血压疾病。据报道,PE患者的血清C反应蛋白(CRP)、白细胞介素-6(IL-6)和肿瘤坏死因子α(TNF-α)水平高于健康对照组。然而,这些炎症生物标志物的表达是否与PE有因果关系尚不明确。我们应用孟德尔随机化方法推断炎症生物标志物(如CRP、IL-6、白细胞介素1受体拮抗剂[IL-1ra]和TNF-α)与PE之间的因果关系。与炎症生物标记物密切相关的单核苷酸多态性(SNPs)被用作工具变量。CRP、IL-1ra和IL-6水平对PE的进展没有显著影响,而遗传预测的较高水平的TNF-α显著增加了PE的风险(TNF-α每增加1-SD的OR为4.33;95%可信区间为1.99,9.39];p=0.0021)。研究结果表明,TNF-α的促炎活性可能是PE进展的决定因素。对于炎症生物标志物水平较高的孕妇,尤其是TNF-α,应给予更多的产前护理。
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引用次数: 0
The Effect of Genetic Predisposition to Alzheimer's Disease and Related Traits on Recruitment Bias in a Study of Cognitive Aging. 认知衰老研究中阿尔茨海默病的遗传倾向和相关特征对招募偏见的影响。
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2023-06-01 Epub Date: 2023-07-21 DOI: 10.1017/thg.2023.26
Lina M Gomez, Brittany L Mitchell, Kerrie McAloney, Jessica Adsett, Natalie Garden, Madeline Wood, Santiago Diaz-Torres, Luis M Garcia-Marin, Michael Breakspear, Nicholas G Martin, Michelle K Lupton

The recruitment of participants for research studies may be subject to bias. The Prospective Imaging Study of Ageing (PISA) aims to characterize the phenotype and natural history of healthy adult Australians at high future risk of Alzheimer's disease (AD). Participants approached to take part in PISA were selected from existing cohort studies with available genomewide genetic data for both successfully and unsuccessfully recruited participants, allowing us to investigate the genetic contribution to voluntary recruitment, including the genetic predisposition to AD. We use a polygenic risk score (PRS) approach to test to what extent the genetic risk for AD, and related risk factors predict participation in PISA. We did not identify a significant association of genetic risk for AD with study participation, but we did identify significant associations with PRS for key causal risk factors for AD, IQ, household income and years of education. We also found that older and female participants were more likely to take part in the study. Our findings highlight the importance of considering bias in key risk factors for AD in the recruitment of individuals for cohort studies.

招募研究参与者可能存在偏见。老龄化前瞻性影像学研究(PISA)旨在描述未来阿尔茨海默病(AD)高危的健康成年澳大利亚人的表型和自然史。参与PISA的参与者是从现有的队列研究中选择的,这些研究具有成功和失败招募参与者的全基因组遗传数据,使我们能够调查自愿招募的遗传贡献,包括AD的遗传易感性。我们使用多基因风险评分(PRS)方法来测试AD的遗传风险和相关风险因素在多大程度上预测参与PISA。我们没有发现AD的遗传风险与参与研究有显著关联,但我们确实发现了AD、IQ、家庭收入和教育年限的关键因果风险因素与PRS有显著关联。我们还发现,年龄较大和女性参与者更有可能参与这项研究。我们的研究结果强调了在招募个体进行队列研究时,考虑AD关键风险因素的偏差的重要性。
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引用次数: 0
Abstracts for the 45th Human Genetics Society of Australasia Annual Scientific Meeting, Perth, Western Australia, 24-27 November 2022. 第45届澳大利亚人类遗传学会年度科学会议摘要,2022年11月24日至27日,西澳大利亚珀斯。
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-25 DOI: 10.1017/thg.2023.7
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引用次数: 0
Secular Trends of Birth Weight in Twins and Singletons in South Korea from 2000 to 2020. 2000 - 2020年韩国双胞胎和单胎出生体重的长期趋势。
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-01 DOI: 10.1017/thg.2023.16
Yoon-Mi Hur

Whether the decline of birth weight (BW) reported in developed countries in the early 2000s is ongoing remains unknown. Furthermore, despite recent sharp increases in twin births, comparing secular trends of BW between singletons and twins is difficult, as studies have rarely examined secular trends of BW in twins and singletons simultaneously. Therefore, this study aimed to investigate the most recent 20-year trends (2000-2020) of BW in twins and singletons in South Korea. Annual natality files from 2000 to 2020 obtained from the Korean Statistical Information Service were analyzed. A yearly decrease of BW was 3 g among singletons and 5 to 6 g in twins from 2000 to 2020, indicating a widening gap of BW between twins and singletons with increasing years. Gestational age (GA) also decreased in twins and singletons with yearly decreases of 0.28 days in singletons and 0.41 days in twins. Whereas BW decreased in term (GA ≥ 37 weeks), and very preterm groups (28 weeks ≤ GA < 32 weeks) from 2000 to 2020 in twins and singletons, it increased in moderate to late preterm (32 weeks ≤ GA < 37 weeks) groups, indicating a non-linear relationship between BW and GA. The prevalence of macrosomia (BW > 4000 g) in singletons decreased from 2000 to 2020, whereas low birth weight (LBW; BW < 2500 g) increased in twins and singletons. LBW is associated with adverse health outcomes. Effective public health strategies aiming at reduction in the incidence of LBW in the population should be developed.

21世纪初发达国家报告的出生体重(BW)下降是否仍在继续,目前尚不清楚。此外,尽管最近双胞胎出生数量急剧增加,但比较单胎和双胞胎之间体重的长期趋势是困难的,因为研究很少同时检查双胞胎和单胎体重的长期趋势。因此,本研究旨在调查韩国双胞胎和单胎体重最近20年(2000-2020年)的趋势。对从统计厅获得的2000 ~ 2020年的出生记录进行了分析。从2000年到2020年,单胎体重每年下降3 g,双胞胎体重每年下降5 ~ 6 g,表明随着年龄的增加,双胞胎和单胎的体重差距越来越大。双胞胎和单胎的胎龄(GA)也减少,单胎每年减少0.28天,双胞胎每年减少0.41天。从2000年到2020年,双胞胎和单胎的体重在足月(GA≥37周)和非常早产组(28周≤GA < 32周)中有所下降,而在中度至晚期早产组(32周≤GA < 37周)中有所增加,表明体重与GA之间存在非线性关系。从2000年到2020年,单胎婴儿中巨大儿(体重> 4000 g)的患病率有所下降,而低出生体重儿(LBW;体重< 2500g)在双胞胎和单胎中增加。低体重与不良健康结果相关。应制定有效的公共卫生战略,以减少人口中轻伤的发生率。
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引用次数: 1
Role of Twins in Waardenburg Syndrome: 1916 - present/Twin Research Reviews: MZ Twins' Different Dermatoglyphics; Twins with Sagittal Suture Crainosynostosis; Blood Pressure in Female Twins; MZ Twins' Education and Political Knowledge/Media Reports: Twins Created by Reciprocal In Vitro Fertilization; Reared-Apart Triplets' Limited TV Series; Abducted Twin Infants; Winkelvoss Twins Charged by the Securities and Exchange Commission; Going From 'Me' to 'We'. 双胞胎在Waardenburg综合征中的作用:1916年至今/双胞胎研究综述:MZ双胞胎不同的皮肤纹矢状缝合线性缝骨闭锁双胞胎;女性双胞胎的血压;MZ双胞胎的教育与政治知识/媒体报道:相互体外受精创造的双胞胎三胞胎的限定电视剧;被绑架的双胞胎婴儿;Winkelvoss Twins被美国证券交易委员会起诉;从“我”到“我们”。
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-01 DOI: 10.1017/thg.2023.13
Nancy L Segal

Waardenburg's syndrome involves deafness accompanied by various visual difficulties. The role of twins in identifying this disorder and advancing understanding of its origins and symptoms is described, beginning in 1916 and continuing to the present. This overview is followed by current research on monozygotic (MZ) twins' different dermatoglyphic features, twins with sagittal suture crainosynostosis, blood pressure in female twins, and MZ twins' education and political knowledge. The final section presents media reports describing controversies surrounding twins created by reciprocal in vitro fertilization, reared-apart triplets' limited TV series, abducted twin infants, the Winkelvoss twins' charges by the Securities and Exchange Commission, and going from 'Me' to 'We'.

瓦尔登堡综合征包括伴有各种视觉障碍的耳聋。从1916年开始,一直持续到现在,双胞胎在识别这种疾病和推进对其起源和症状的理解方面的作用被描述。本文综述了目前关于同卵双胞胎不同皮肤纹特征、矢状缝缝性脑缝闭塞的双胞胎、女性双胞胎血压、MZ双胞胎的教育和政治知识的研究。最后一部分是媒体报道,描述了围绕相互体外受精产生的双胞胎、被分开抚养的三胞胎的有限电视节目、被绑架的双胞胎婴儿、温克尔沃斯双胞胎被证券交易委员会指控,以及从“我”到“我们”的争议。
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引用次数: 0
The Garden of Forking Paths; An Evaluation of Joseph's 'A Reevaluation of the 1990 "Minnesota Study of Twins Reared Apart" IQ Study'. 岔路花园;约瑟夫的“对1990年“明尼苏达双胞胎分开抚养研究”的再评价”。
IF 0.9 4区 医学 Q4 GENETICS & HEREDITY Pub Date : 2023-04-01 DOI: 10.1017/thg.2023.19
Thomas J Bouchard

Joseph has written what purports to be a refutation of studies of Twins Reared-Apart (TRAs) with a singular focus on the Minnesota Study of Twins Reared-Apart (MISTRA). I show, in detail, that (a) his criticisms of previous TRA studies depend on sources that were discredited prior to MISTRA, as they all failed the test of replicability, (b) the list of biases he uses to invalidate MISTRA do not support his arguments, (c) the accusations of questionable research practices are unsubstantiated, (d) his claim that MISTRA should be evaluated in the context of psychology's replication crisis is refuted. The TRA studies are constructive replications. Like many other scholars, past and present, he has been misled by the variation introduced by small samples (sampling error) and the distortion created by walking in the garden of forking paths. His endeavor is a concatenation of elision and erroneous statistical/scientific reasoning.

约瑟夫写了一篇文章,声称是对双胞胎分开抚养(TRAs)研究的反驳,特别关注明尼苏达州双胞胎分开抚养(MISTRA)的研究。我详细地表明,(a)他对以前的TRA研究的批评依赖于在MISTRA之前被怀疑的来源,因为它们都未能通过可复制性测试,(b)他用来使MISTRA无效的偏见列表不支持他的论点,(c)对可疑研究实践的指控是未经证实的,(d)他关于应该在心理学的复制危机背景下评估MISTRA的主张被反驳。TRA研究是建设性的重复。像过去和现在的许多其他学者一样,他被小样本带来的变化(抽样误差)和行走在分叉路径的花园里所产生的扭曲所误导。他的努力是删节和错误的统计/科学推理的结合。
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引用次数: 0
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Twin Research and Human Genetics
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