VIEWPOINT Missing heritability and strategies for finding the underlying causes of complex disease

被引：1182

作者：

Eichler, Evan E. ^{[1
]}

Flint, Jonathan ^{[2
]}

Gibson, Greg ^{[3
]}

Kong, Augustine ^{[4
]}

Leal, Suzanne M. ^{[5
]}

Moore, Jason H. ^{[6
]}

Nadeau, Joseph H. ^{[7
]}

机构：

[1] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[2] Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[3] Georgia Inst Technol, Sch Biol, Atlanta, GA 30332 USA

[4] DeCODE Genet, IS-101 Reykjavik, Iceland

[5] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77025 USA

[6] Dartmouth Med Sch, Computat Genet Lab, Lebanon, NH 03756 USA

[7] Case Western Reserve Univ, Sch Med, Dept Genet, Cleveland, OH 44106 USA

来源：

NATURE REVIEWS GENETICS | 2010年 / 11卷 / 06期

基金：

美国国家卫生研究院; 英国惠康基金;

关键词：

COPY NUMBER; SEQUENCE VARIANTS; GENE INTERACTIONS; RARE VARIANTS; EPISTASIS; SUSCEPTIBILITY; COMMON; ASSOCIATION; INHERITANCE; EVOLUTION;

D O I：

10.1038/nrg2809

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Although recent genome-wide studies have provided valuable insights into the genetic basis of human disease, they have explained relatively little of the heritability of most complex traits, and the variants identified through these studies have small effect sizes. This has led to the important and hotly debated issue of where the 'missing heritability' of complex diseases might be found. Here, seven leading geneticists offer their opinion about where this heritability is likely to lie, what this could tell us about the underlying genetic architecture of common diseases and how this could inform research strategies for uncovering genetic risk factors.

引用

页码：446 / 450

页数：5

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