nature

当前位置: Nature » 基因&基因组学 » 正文

Nature:父母关系远近与身高和智力有关

摘要 : 对102个群组和超过35万个体进行的这项联合元分析,通过观察连续纯合子片段(ROH,沿其全部长度被推断为纯合性的片段)研究了纯合性对具有公共卫生重要性的性状的影响。

 对102个群组和超过35万个体进行的这项联合元分析,通过观察连续纯合子片段(ROH,沿其全部长度被推断为纯合性的片段)研究了纯合性对具有公共卫生重要性的性状的影响。通过关注16个与健康相关的量化性状,作者在全部连续纯合子片段与四个复杂性状之间发现了在统计上具有显著性的联系,这四个性状分别是:身高、一秒用力呼气肺活量、一般认知能力和教育程度。在每一种情况下,纯合性的增加都与性状值的降低相关。没有发现全基因组纯合性对血压和低密度脂蛋白胆固醇或十个其他心脏代谢性状有影响的证据。

原文链接:

Directional dominance on stature and cognition in diverse human populations

原文摘要:

Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P< 1 × 10−300, 2.1 × 10−6, 2.5 × 10−10 and 1.8 × 10−10, respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months’ less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, wheras many important risk factors for late-onset complex diseases may not have been.

来源: Nature 浏览次数:0

热门文章TOP

RSS订阅 - 填写您的邮件地址,订阅我们的精彩内容: - 网站地图
网站联系电话:020-87540820 备案号:粤ICP备11050685号-8 增值电信业务经营许可证:粤B2-20120479
©2011-2015 生物帮 All rights reserved.