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来自费尔斯纵向研究的女孩月经初潮年龄的遗传度。

Heritability of age at menarche in girls from the Fels Longitudinal Study.

作者信息

Towne Bradford, Czerwinski Stefan A, Demerath Ellen W, Blangero John, Roche Alex F, Siervogel Roger M

机构信息

Lifespan Health Research Center, Wright State University School of Medicine, Dayton, Ohio 45420, USA.

出版信息

Am J Phys Anthropol. 2005 Sep;128(1):210-9. doi: 10.1002/ajpa.20106.

Abstract

Menarche is the hallmark maturational event of female childhood. Many studies indicated a significant genetic contribution to the timing of the onset of menstruation, but most of these studies were limited by the use of retrospective data and by the use of data from only certain types of relatives (i.e., mothers and daughters, sisters, or twin sisters). The primary goal of this study was to use a modern maximum likelihood quantitative genetic method to estimate the heritability (h(2)) of age at menarche, using familial data collected over the course of the 74-year-old Fels Longitudinal Study. The secondary goal was to review earlier studies of the heritability of age at menarche. The study of the heritability of age at menarche presented here is unique for two reasons. First, because of the Fels Longitudinal Study's serial design, age-at-menarche data were collected prospectively from most participants. Second, because the Fels Longitudinal Study is a family study that has been conducted for decades, age-at-menarche data are available from many types of female relatives spanning multiple households and generations. The best-fitting and most parsimonious quantitative genetic model included provision for a secular decrease in age at menarche, and estimated the h(2) of age at menarche to be 0.49+/- 0.13 (95% confidence interval of h(2),=0.24-0.73). The results of this study are in general agreement with the findings of most previous studies of genetic influences on age at menarche, and suggest that it is reasonable to consider it well-established that approximately half the phenotypic variation among girls from developed nations in the timing of menarche is due to genetic factors.

摘要

月经初潮是女性儿童期标志性的成熟事件。许多研究表明,月经初潮开始时间受到显著的遗传影响,但这些研究大多受限于使用回顾性数据,以及仅使用某些特定类型亲属(即母亲和女儿、姐妹或双胞胎姐妹)的数据。本研究的主要目标是使用现代最大似然定量遗传方法,利用在长达74年的费尔斯纵向研究过程中收集的家族数据,估计月经初潮年龄的遗传力(h²)。次要目标是回顾早期关于月经初潮年龄遗传力的研究。此处呈现的月经初潮年龄遗传力研究有两个独特之处。其一,由于费尔斯纵向研究采用系列设计,大多数参与者的月经初潮年龄数据是前瞻性收集的。其二,由于费尔斯纵向研究是一项已开展数十年的家族研究,可获取来自多个家庭和多代的多种类型女性亲属的月经初潮年龄数据。最拟合且最简约的定量遗传模型考虑到月经初潮年龄的长期下降趋势,并估计月经初潮年龄的h²为0.49±0.13(h²的95%置信区间为0.24 - 0.73)。本研究结果与此前大多数关于遗传对月经初潮年龄影响的研究结果总体一致,并表明有理由认为,发达国家女孩月经初潮时间约一半的表型变异是由遗传因素导致的,这一点已得到充分证实。

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