数量性状全基因组关联分析中上位效应遗传位点检测方法研究进展

数量性状的表型变异受到大量效应微小的遗传位点和诸多环境因素的共同作用,但在数量性状的遗传研究领域,关于不同遗传位点之间加性效应与上位效应相对重要性的认识却存在着分歧。近年来,伴随着全基因组关联分析在人类及家养动物数量性状研究中的发展,在全基因组关联分析的框架内进行上位效应遗传位点的检测越发受到重视。文章以遗传力失踪问题为出发点,首先综述了标记-QTL连锁分析和GWAS框架下传统上位效应遗传位点的检测方法,然后对基于表型方差同质性检验和广义线性混合模型方法的上位效应统计推断以及混杂因素的处理方法进行了总结与梳理,旨在为数量性状全基因规模上位效应的相关研究提供理论参考。

Advances in statistical approaches for detection of epistatic genetic loci for genome-wide association study of quantitative traits

The controversy on the relative importance between additive effects and epistasis in genetics research of quantitative traits has existed for a long time,although phenotypic variations for such traits are generally believed to be governed by polygenic genes and many environmental factors.With the recent advancement of genome-wide association study of quantitative traits in humans and domesticated animals,the identification of epistasis or genetic interaction in the framework of genome-wide association study attracted increasing attention.With the issue of missing heritability as the starting point,we firstly reviewed and clarified the conventional approaches for detection of epistatic genetic loci in marker-QTL linkage analyses and genome-wide association studies.Then,we summarized the methods of homogeneity tests,the generalized linear mixed model for both phenotypic variance of quantitative traits,and adjustment of confounding factors.The paper would provide reference for genome-wide epistatic QTL studies on quantitative traits.