据研究人员介绍,对不同人类性状之间的遗传相关性的观察被解释为广泛多态性的证据。
研究人员引入了跨性状相称交配(xAM)作为一种替代解释。研究人员观察到xAM影响了许多表型,并且表型的交叉交配相关估计与遗传相关估计密切相关(R2=74%)。研究人员证明,现有的xAM合理地解释了相当一部分的遗传相关性估计,而且以前报道的一些精神疾病对之间的遗传相关性估计与xAM本身是一致的。最后,研究人员利用跨性状的偶数/偶数染色体多基因分值相关性,在遗传水平上为xAM的历史提供证据。
总之,这些结果表明,以前的报告很可能高估了许多表型之间的真实遗传相似性。
附:英文原文
Title: Cross-trait assortative mating is widespread and inflates genetic correlation estimates
Author: Richard Border, Georgios Athanasiadis, Alfonso Buil, Andrew J. Schork, Na Cai, Alexander I. Young, Thomas Werge, Jonathan Flint, Kenneth S. Kendler, Sriram Sankararaman, Andy W. Dahl, Noah A. Zaitlen
Issue&Volume: 2022-11-18
Abstract: The observation of genetic correlations between disparate human traits has been interpreted as evidence of widespread pleiotropy. Here, we introduce cross-trait assortative mating (xAM) as an alternative explanation. We observe that xAM affects many phenotypes and that phenotypic cross-mate correlation estimates are strongly associated with genetic correlation estimates (R2 = 74%). We demonstrate that existing xAM plausibly accounts for substantial fractions of genetic correlation estimates and that previously reported genetic correlation estimates between some pairs of psychiatric disorders are congruent with xAM alone. Finally, we provide evidence for a history of xAM at the genetic level using cross-trait even/odd chromosome polygenic score correlations. Together, our results demonstrate that previous reports have likely overestimated the true genetic similarity between many phenotypes.
DOI: abo2059
Source: https://www.science.org/doi/10.1126/science.abo2059