Twin Studies as Topic

双胞胎研究为主题
  • 文章类型: Journal Article
    目的:当前的荟萃分析旨在检查饮食摄入量的遗传度和家族相似性,包括双胞胎和基于家庭的研究中的能量和大量营养素。
    方法:在线文献数据库,包括PubMed,Scopus,和WebofScience进行了全面搜索,直到2023年才确定相关研究。家庭研究的遗传力指数为h2,双胞胎研究的遗传力指数为h2,A2和E2。使用三种加权方法计算遗传力饮食摄入量的平均值和SE。
    结果:本荟萃分析包括18篇论文,包括8篇关于家族人群的研究和12篇关于双胞胎人群的研究。双胞胎研究中饮食摄入量的遗传率(汇总估计的h2,A2和E2的范围为30-55%,14-42%,52-79%,分别)高于家庭研究(汇总估计h2的范围=16-39%)。在家庭研究中,各种营养素的最高和最低遗传力是观察到的脂肪(%Kcal)(H2范围:36-38%)和碳水化合物(H2范围:16-18%),分别。在双胞胎研究中,基于平均H2,各种营养素的最高和最低遗传力被报告为脂肪(%Kcal)(H2范围:49-55%)和蛋白质摄入量(H2范围:30-35%),分别。此外,基于A2的平均值,观察到碳水化合物的最高和最低遗传力(%Kcal)(A2范围:42-42%),和蛋白质(%Kcal)(A2范围:14-16%),分别。此外,在双胞胎研究中,E2的最高和最低平均值显示为饱和脂肪(E2范围:74-79%)和能量摄入量(E2范围:52-57%),分别。
    结论:我们的分析表明,环境因素和遗传因素在确定膳食摄入量的遗传力方面都有显著的贡献。此外,与家庭研究相比,我们观察到双胞胎的遗传率更高。
    OBJECTIVE: The current meta-analysis aimed to examine the heritability and familial resemblance of dietary intakes, including energy and macronutrients in both twin and family-based studies.
    METHODS: The online literature databases, including PubMed, Scopus, and Web of Science were searched comprehensively until 2023 to identify the relevant studies. The heritability index in family studies was h2 and the heritability indices for twin studies were h2, A2, and E2. Three weighted methods were used to calculate the mean and SE of heritability dietary intakes.
    RESULTS: Eighteen papers including 8 studies on familial population and 12 for twin population studies were included in the present meta-analysis. The heritability of dietary intakes in twin studies (range of pooled estimated h2, A2, and E2 was 30-55%, 14-42%, and 52-79%, respectively) was higher than family studies (range of pooled estimated h2 = 16-39%). In family studies, the highest and lowest heritability for various nutrients was observed for the fat (%Kcal) (h2 range:36-38%) and carbohydrate in g (h2 range:16-18%), respectively. In twin studies, based on mean h2, the highest and lowest heritability for various nutrients was reported for the fat (%Kcal) (h2 range:49-55%) and protein intake in g (h2 range:30-35%), respectively. Also, based on the mean of A2, the highest and lowest heritability was observed for carbohydrates (% Kcal) (A2 range:42-42%), and protein (% Kcal) (A2 range:14-16%), respectively. Furthermore, in twin studies, the highest and lowest mean of E2 was shown for saturated fats (E2 range:74-79%) and energy intake (E2 range:52-57%), respectively.
    CONCLUSIONS: Our analysis indicated that both environmental factors and genetics have noticeable contributions in determining the heritability of dietary intakes. Also, we observed higher heritability in twins compared to family studies.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    系统性红斑狼疮(SLE)是一种慢性自身免疫性疾病,其临床表现和严重程度具有很大的异质性。SLE的病理生理学涉及针对各种组织的异常自身免疫反应,过量的凋亡体,和过量生产的I型干扰素。对这种疾病的遗传贡献得到了单卵双胞胎研究的支持,家族聚类,和全基因组关联研究(GWAS)已经确定了许多风险基因座。在70年代初,补体缺乏导致描述由单个基因缺陷引起的家族性SLE。高通量测序最近发现越来越多的与狼疮相关的单基因缺陷,塑造单基因狼疮的概念,增强我们对免疫耐受机制的认识。早发性狼疮或综合征性狼疮患者应怀疑单基因狼疮(MOSLE)。在男性中,或家族性狼疮病例。这篇综述讨论了单基因SLE的遗传基础,并提出了基于破坏途径的分类。这些途径包括凋亡细胞或免疫复合物的清除缺陷,干扰素病,JAK状态,TLRopathies,以及T细胞和B细胞失调。
    Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterized by its large heterogeneity in terms of clinical presentation and severity. The pathophysiology of SLE involves an aberrant autoimmune response against various tissues, an excess of apoptotic bodies, and an overproduction of type-I interferon. The genetic contribution to the disease is supported by studies of monozygotic twins, familial clustering, and genome-wide association studies (GWAS) that have identified numerous risk loci. In the early 70s, complement deficiencies led to the description of familial forms of SLE caused by a single gene defect. High-throughput sequencing has recently identified an increasing number of monogenic defects associated with lupus, shaping the concept of monogenic lupus and enhancing our insights into immune tolerance mechanisms. Monogenic lupus (moSLE) should be suspected in patients with either early-onset lupus or syndromic lupus, in male, or in familial cases of lupus. This review discusses the genetic basis of monogenic SLE and proposes its classification based on disrupted pathways. These pathways include defects in the clearance of apoptotic cells or immune complexes, interferonopathies, JAK-STATopathies, TLRopathies, and T and B cell dysregulations.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    当前的研究是出于对加深对巴西双胞胎研究的理解的兴趣,在国际上代表性不足,为了纠正这种情况。我们的目标是三个方面:(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年双胞胎研究的综合荟萃分析之外的研究特征。根据PRISMA指南进行范围审查。直到2022年,标题和摘要在六个数据库中进行了搜索:CAPES,BDLTD,PePSIC,PubMed,谷歌学者,还有SciELO,使用选定的葡萄牙语和英语关键字(例如,\'双胞胎\'和\'巴西\';\'孪生\'和\'巴西\';\'gemelaridade\'[孪生],and\''gämeos\'[twins]).审查中包括340种出版物。大约一半(53.8‰)使用经典的双生设计来研究几个性状的遗传力,另一半(46.2%)使用其他研究设计。范围审查显示,出版物的数量大约每10年翻一番。大多数出版物来自卫生领域,医学大约占研究的一半,其次是心理学,牙本质学,和生物学。我们发现,多年来,巴西科学家对研究双胞胎的兴趣正在增加,并且有理由对这一趋势在全球情景中的潜在影响充满热情。
    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.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    在我们迅速老龄化的人口中改善人类健康从未如此迫切。端粒,线性染色体末端的保护性“帽”,对于维持真核基因组的基因组稳定性至关重要。由于它们的物理位置和阿列克谢·奥洛夫尼科夫博士最初设想的“末端复制问题”,端粒随着细胞分裂而缩短,其含义非常深刻。端粒是衰老的标志和分子驱动因素,以及遗传累积效应的基本整合成分,生活方式,和环境因素随着时间的推移侵蚀端粒长度。正在进行的端粒消耗和细胞衰老对复制潜力的限制具有强大的肿瘤抑制功能,也是衰老和一系列与年龄相关的退行性病变的基础,包括降低生育率,痴呆症,心血管疾病和癌症。然而,关于长期太空探索和其他行星最终居住相关的非凡压力和暴露的数据很少,这些任务如何影响端粒,繁殖,健康,疾病风险,和衰老。这里,我们简要回顾一下我们目前的理解,由于NASA的双胞胎研究,近年来取得了显着进步,有史以来对与航天相关的人类健康影响进行的最全面的评估。因此,双胞胎研究处于宇航员个性化太空医学方法的最前沿,并为后续任务奠定了基础。我们还从当前的理解推断到未来的任务,强调可能使人类生存的潜在生物和生化策略,并考虑在极端的太空环境中长寿的前景。
    Improving human healthspan in our rapidly aging population has never been more imperative. Telomeres, protective \"caps\" at the ends of linear chromosomes, are essential for maintaining genome stability of eukaryotic genomes. Due to their physical location and the \"end-replication problem\" first envisioned by Dr. Alexey Olovnikov, telomeres shorten with cell division, the implications of which are remarkably profound. Telomeres are hallmarks and molecular drivers of aging, as well as fundamental integrating components of the cumulative effects of genetic, lifestyle, and environmental factors that erode telomere length over time. Ongoing telomere attrition and the resulting limit to replicative potential imposed by cellular senescence serves a powerful tumor suppressor function, and also underlies aging and a spectrum of age-related degenerative pathologies, including reduced fertility, dementias, cardiovascular disease and cancer. However, very little data exists regarding the extraordinary stressors and exposures associated with long-duration space exploration and eventual habitation of other planets, nor how such missions will influence telomeres, reproduction, health, disease risk, and aging. Here, we briefly review our current understanding, which has advanced significantly in recent years as a result of the NASA Twins Study, the most comprehensive evaluation of human health effects associated with spaceflight ever conducted. Thus, the Twins Study is at the forefront of personalized space medicine approaches for astronauts and sets the stage for subsequent missions. We also extrapolate from current understanding to future missions, highlighting potential biological and biochemical strategies that may enable human survival, and consider the prospect of longevity in the extreme environment of space.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    在过去的几年中,对基于语音的情感识别(SER)技术的临床应用的研究一直在稳步增长。一种这样的潜在应用是在家庭环境中自动识别表达的情感(EE)成分。EE的识别非常重要,因为它们与一系列不良生活事件有关。这些事件的手动编码需要耗时的专业培训,扩大对自动化方法的需求。在这里,我们描述了一种用于确定温暖程度的自动化机器学习方法,EE的一个关键组成部分,从声学和文本自然语言特征。我们52次记录采访的数据集取自录音,20多年前收集的,来自英国双胞胎儿童的全国代表性出生队列,并由两名研究人员手动编码为EE(评分者间可靠性0.84-0.90)。我们证明,尽管使用质量变化很大的录音,但可以预测F1评分为64.7%的温暖程度。我们非常有希望的结果表明,机器学习可能能够在不久的将来帮助EE的编码。
    Research into clinical applications of speech-based emotion recognition (SER) technologies has been steadily increasing over the past few years. One such potential application is the automatic recognition of expressed emotion (EE) components within family environments. The identification of EE is highly important as they have been linked with a range of adverse life events. Manual coding of these events requires time-consuming specialist training, amplifying the need for automated approaches. Herein we describe an automated machine learning approach for determining the degree of warmth, a key component of EE, from acoustic and text natural language features. Our dataset of 52 recorded interviews is taken from recordings, collected over 20 years ago, from a nationally representative birth cohort of British twin children, and was manually coded for EE by two researchers (inter-rater reliability 0.84-0.90). We demonstrate that the degree of warmth can be predicted with an F1-score of 64.7% despite working with audio recordings of highly variable quality. Our highly promising results suggest that machine learning may be able to assist in the coding of EE in the near future.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    对患有两个子宫(子宫双子宫)的女性所生的不寻常的双胞胎类型的双胞胎进行了回顾。这篇综述是关于双胎妊娠产前非整倍体筛查的最新研究和观点的总结。同性男性夫妇的双胞胎概念,连体双胞胎的法律人格,和对大麻使用的双胞胎研究。还提供了有关媒体上出现的双胞胎的有趣信息,即双胞胎如何拯救了一对姐妹;诺贝尔奖获得者的双胞胎孩子,英国“混血儿”双胞胎,三胞胎出生在俄罗斯对乌克兰的攻击开始,和出生在不同年份的双胞胎。
    A review of an unusual twin type-twins born to women with two uteri (uterus didelphys)-is presented. This review is followed by summaries of recent research and perspectives concerning prenatal aneuploidy screening for twin pregnancies, twin conceptions by same-sex male couples, legal personality of conjoined twins, and a twin study of cannabis use. Interesting information about twins that has appeared in the media is also presented, namely how being taken for twins saved a pair of sisters; twin children of a jailed Nobel Prize winner, British \'biracial\' twins, triplets born at the start of Russia\'s attack on Ukraine, and twins born in different years.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    本文首先概述了巴西的双胞胎研究,由圣保罗大学双胞胎小组发起。我遇到了许多新的研究合作者和学生,而在该国的2023年秋季四城市讲座之旅。还描述了与世界著名的外科医生的会面,他最近分离了颅骨连体双胞胎对。下面是双胞胎关于暴饮暴食的研究综述,双胞胎的身体结果与不同的饮食有关,瑞典双胞胎的工作条件和疾病缺勤以及单卵双胞胎的面部形态差异。本文的最后一部分提供了具有重要意义的人类兴趣故事的样本。他们包括一个被迫收养自己双胞胎的密歇根家庭,围绕雇用代孕生双胞胎的道德问题;以色列-哈马斯战争的双胞胎幸存者,双胎双胎妊娠,和三个双胞胎在同一个女子足球队。
    This article begins with an overview of twin research in Brazil, initiated by the University of São Paulo Panel of Twins. I met with many new research collaborators and students while on a fall 2023 four-city lecture tour in that country. A meeting with a world-famous surgeon who recently separated craniopagus conjoined twin pairs is also described. This overview is followed by summaries of twin research on binge eating, twins\' physical outcomes linked to different diets, working conditions and sickness absence in Swedish Twins and facial morphology differences in monozygotic twins. The final section of this article provides a sampling of human interest stories with important implications. They include a Michigan family forced to adopt their own twins, ethical issues surrounding the hiring of a surrogate to bear twins; twin survivors of the Israel-Hamas war, a twin pregnancy with a double uterus, and three twin pairs on the same women\'s soccer team.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: Journal Article
    认知功能下降和脊柱疼痛(背痛[BP]和颈痛[NP])是一项重大的公共卫生挑战,然而,他们之间的潜在关系仍然难以捉摸。对丹麦双胞胎的纵向研究进行了回顾性分析,以确定BP/NP与适应年龄的认知功能之间的任何潜在关系。性别,教育和社会经济地位。总共4731名78±6(SD)岁的成年人(2788名女性/1943名男性)被纳入分析。我们观察到BP的1个月患病率为25%,21%的NP和11%的联合BP/NP。虽然男性和女性合并BP/NP的认知评分没有差异,与没有合并BP/NP的那些相比(34.38点[95%置信区间(CI)=31.88,36.88]与35.72分[95%CI=35.19,36.26];P=0.180;35.72分[95%CI=35.19,36.26]与35.85分[95%CI=35.39,36.31];P=0.327;对于男性和女性,分别),调整后的分析显示,与没有合并BP/NP的男性相比,合并BP/NP的男性认知得分较低(81.26分[95%CI=73.80,88.72]与79.48分[95%CI=70.31,88.66];P=0.043)。这项假设生成研究的结果可能强调了脊柱疼痛与晚年神经变性之间潜在的性别特异性关联。
    Cognitive decline and spinal pain (back pain [BP] and neck pain [NP]) represent a major public health challenge, yet the potential relationship between them remains elusive. A retrospective analysis of the Longitudinal Study of Ageing Danish Twins was performed to determine any potential relationships between BP/NP and cognitive function adjusting for age, sex, educational and socioeconomic status. A total of 4731 adults (2788 females/1943 males) aged 78 ± 6 (SD) years were included in the analysis. We observed a 1-month prevalence of 25% with BP, 21% with NP and 11% for combined BP/NP. While there were no differences in cognition scores for males and females reporting combined BP/NP, compared to those without combined BP/NP (34.38 points [95% confidence interval (CI) = 31.88, 36.88] vs. 35.72 points [95% CI = 35.19, 36.26]; P = 0.180; and 35.72 points [95% CI = 35.19, 36.26] vs. 35.85 points [95% CI = 35.39, 36.31]; P = 0.327; for male and females, respectively), an adjusted analysis revealed that males with combined BP/NP presented with lower cognitive scores compared to males without combined BP/NP (81.26 points [95% CI = 73.80, 88.72] vs. 79.48 points [95% CI = 70.31, 88.66]; P = 0.043). The findings of this hypothesis-generating study may highlight a potential sex-specific association between spinal pain and later-life neurodegeneration.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Systematic Review
    学习阅读是一个动态和累积的过程,从出生开始,一直持续到学年。经验数据显示,从学龄前到中学,加性遗传(A)和共享环境(C)成分减少,非共享环境(E)成分增加。然而,我们对这一发展时期阅读技能的连续性和变化的病因的理解是有限的。按照PRISMA准则,我们回顾了从学龄前/幼儿园到初中/高中的13项纵向双胞胎和过继兄弟姐妹研究对阅读相关神经认知技能的行为遗传学研究结果.我们的研究结果表明,在整个研究期间,连续性主要由A成分解释,and,尽管在较小程度和较不一致的情况下,早期的C组件;这些年来,新的E组件解释了变化,以及早期新的A组件。由于我们对与发育过程中早期发作的特征相关的模型感兴趣,深入研究发育时间如何调节遗传和环境变异至关重要。
    Learning to read is a dynamic and cumulative process beginning from birth and continuing through the school years. Empirical data showed a decrease of additive genetic (A) and shared environmental (C) components and an increase of non-shared environmental (E) components from preschool to middle school. However, our understanding of the aetiology of continuity and change of reading skills across this developmental period is limited. Following the PRISMA guidelines, we reviewed the results of behavioral genetic research on reading-related neurocognitive skills of 13 longitudinal twin and adoptive sibling studies spanning from preschool/kindergarten to middle/high school. Our findings suggested that continuity was mainly explained by A components throughout the study periods, and, although to a lesser extent and less consistently, by C components during the early years; change was explained by new E components throughout the years, and also by new A components in the early years. As we are interested in models relevant to traits with early onset during development, it is crucial to deepen the investigation of how developmental time can moderate the genetic and environmental variation.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

  • 文章类型: English Abstract
    通过使用双胞胎数据对癌症基因座的研究揭示了风险变化的来源。北欧双胞胎和癌症登记处包含有史以来最大的人口代表性双胞胎队列,随访时间中位数超过40年。本文考虑了显示对家族风险的影响的发现,并证明了匹配的共同双胞胎设计在揭示癌症重要风险因素方面的优势。使用双胞胎数据的研究将有望继续提供对癌症流行病学和遗传学的见解,以促进预防和治疗。
    Studies on cancer loci by use of twin data reveal sources of variation in risk. The Nordic twin and cancer registries contain the largest cohort of population representative twins ever studied with more than median 40 years of follow-up. This article considers findings that show influences on familial risk and demonstrates the strengths of the matched case co-twin design for unraveling important risk factors of cancers. Studies using twin data will expectedly continue to provide insights into cancer epidemiology and genetics for the benefit of prevention and treatment.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

    求助全文

公众号