A genome-wide linkage scan for age at menarche in three populations of European descent
A genome-wide linkage scan for age at menarche in three populations of European descent
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DOI：
10.1210/jc.2007-2568
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发表时间：
2008-10-01
影响因子：
5.8
通讯作者：
Montgomery, Grant W.
中科院分区：
文献类型：
--
作者：
Anderson, Carl A.;Zhu, Gu;Montgomery, Grant W.
背景：初潮年龄(AAM)是一项重要的生物学和社会特征，是女性青春期发育中一个明确定义的事件，并与许多临床上有意义的表型有关。目的：本研究的目的是在来自三个国家的大量人口样本中确定影响初潮年龄变异的遗传位点。设计/参与者：通过邮寄问卷或采访的方式收集了来自三个不同人群(澳大利亚、荷兰和英国)的13697人和4899对伪独立姐妹对的初潮年龄数据。结果：三个样本间AAM的平均值、标准差和遗传度分别为13.1年、1.5年和0.69。在联合分析中没有检测到达到全基因组意义的基因座，但在12号染色体上检测到一个提示基因座(优势对数=2.0)。在英国样本的第1、4和18号染色体上发现了三个有提示意义的基因座(优势对数分别为2.4、2.2和3.2)。结论：没有证据表明常见的高渗透变异会影响AAM。连锁和关联表明，AAM的一个性状基因座位于12号染色体上，但需要进一步的研究才能重复这些结果。
Context: Age at menarche (AAM) is an important trait both biologically and socially, a clearly defined event in female pubertal development, and has been associated with many clinically significant phenotypes.Objective: The objective of the study was to identify genetic loci influencing variation in AAM in large population-based samples from three countries.Design/Participants: Recalled AAM data were collected from 13,697 individuals and 4,899 pseudo-independent sister-pairs from three different populations (Australia, The Netherlands, and the United Kingdom) by mailed questionnaire or interview. Genome-wide variance components linkage analysis was implemented on each sample individually and in combination.Results: The mean, SD, and heritability of AAM across the three samples was 13.1 yr, 1.5 yr, and 0.69, respectively. No loci were detected that reached genome-wide significance in the combined analysis, but a suggestive locus was detected on chromosome 12 (logarithm of the odds = 2.0). Three loci of suggestive significance were seen in the U. K. sample on chromosomes 1, 4, and 18 (logarithm of the odds = 2.4, 2.2 and 3.2, respectively).Conclusions: There was no evidence for common highly penetrant variants influencing AAM. Linkage and association suggest that one trait locus for AAM is located on chromosome 12, but further studies are required to replicate these results.