人类身高和体重指数在性别与群体间的全基因组遗传同质性。

Genome-wide genetic homogeneity between sexes and populations for human height and body mass index.

作者信息

Yang Jian, Bakshi Andrew, Zhu Zhihong, Hemani Gibran, Vinkhuyzen Anna A E, Nolte Ilja M, van Vliet-Ostaptchouk Jana V, Snieder Harold, Esko Tonu, Milani Lili, Mägi Reedik, Metspalu Andres, Hamsten Anders, Magnusson Patrik K E, Pedersen Nancy L, Ingelsson Erik, Visscher Peter M

机构信息

Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia, The University of Queensland Diamantina Institute, The Translation Research Institute, Brisbane, QLD 4102, Australia,

Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia.

出版信息

Hum Mol Genet. 2015 Dec 20;24(25):7445-9. doi: 10.1093/hmg/ddv443. Epub 2015 Oct 22.

DOI:10.1093/hmg/ddv443

PMID:26494901

Abstract

Sex-specific genetic effects have been proposed to be an important source of variation for human complex traits. Here we use two distinct genome-wide methods to estimate the autosomal genetic correlation (rg) between men and women for human height and body mass index (BMI), using individual-level (n = ∼44 000) and summary-level (n = ∼133 000) data from genome-wide association studies. Results are consistent and show that the between-sex genetic correlation is not significantly different from unity for both traits. In contrast, we find evidence of genetic heterogeneity between sexes for waist-hip ratio (rg = ∼0.7) and between populations for BMI (rg = ∼0.9 between Europe and the USA) but not for height. The lack of evidence for substantial genetic heterogeneity for body size is consistent with empirical findings across traits and species.

摘要

性别特异性基因效应被认为是人类复杂性状变异的一个重要来源。在此，我们使用两种不同的全基因组方法，利用来自全基因组关联研究的个体水平数据（n = 约44000）和汇总水平数据（n = 约133000），估计男性和女性之间关于身高和体重指数（BMI）的常染色体遗传相关性（rg）。结果是一致的，表明这两个性状的性别间遗传相关性与1没有显著差异。相比之下，我们发现腰臀比存在性别间遗传异质性的证据（rg = 约0.7），BMI存在群体间遗传异质性的证据（欧洲和美国之间rg = 约0.9），但身高不存在。体型缺乏显著遗传异质性的证据与跨性状和物种的实证研究结果一致。