荷兰阿姆斯特丹自由大学Danielle Posthuma研究组的一项最新研究，对复杂性状的多效性和遗传结构进行了全面概述。相关论文于8月19日在线发表于《自然—遗传学》。

研究人员系统地分析了4155个公开可用的GWAS。对于一组包含558个性状且功能强大的GWAS，研究人员提供了多效性和遗传结构的广泛概述。研究人员发现，与性状相关的基因座覆盖了超过一半的基因组，其中90％与多个性状的基因座重叠。研究人员发现潜在的因果突变体在编码和侧翼区域以及调节元件中富集，并且显示出多基因性和性状的可发现性变化。这些结果为遗传变异如何促成性状变异提供了新的见解。所有的GWAS结果能够在GWAS  ATLAS资源库（https://atlas.ctglab.nl）中查询和审阅。

据悉，经过十年的全基因组关联研究（GWASs），人类遗传学的基本问题仍然没有得到解决，如基因组中的多效性程度以及跨性状的遗传结构的变异。目前数百种GWAS的可用性为解决这些问题提供了独特的机会。

附：英文原文

Title: A global overview of pleiotropy and genetic architecture in complex traits

Author: Kyoko Watanabe, Sven Stringer, Oleksandr Frei, Maša Umi?evi? Mirkov, Christiaan de Leeuw, Tinca J. C. Polderman, Sophie van der Sluis, Ole A. Andreassen, Benjamin M. Neale, Danielle Posthuma

Issue&Volume: 19 August 2019

Abstract: After a decade of genome-wide association studies (GWASs), fundamental questions in human genetics, such as the extent of pleiotropy across the genome and variation in genetic architecture across traits, are still unanswered. The current availability of hundreds of GWASs provides a unique opportunity to address these questions. We systematically analyzed 4,155 publicly available GWASs. For a subset of well-powered GWASs on 558 traits, we provide an extensive overview of pleiotropy and genetic architecture. We show that trait-associated loci cover more than half of the genome, and 90% of these overlap with loci from multiple traits. We find that potential causal variants are enriched in coding and flanking regions, as well as in regulatory elements, and show variation in polygenicity and discoverability of traits. Our results provide insights into how genetic variation contributes to trait variation. All GWAS results can be queried and visualized at the GWAS ATLAS resource (https://atlas.ctglab.nl).

DOI: https://doi.org/10.1038/s41588-019-0481-0

Source: https://www.nature.com/articles/s41588-019-0481-0