Rare and common variants: twenty arguments

被引：769

作者：

Gibson, Greg ^{[1
,2
]}

机构：

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

[2] Georgia Inst Technol, Ctr Integrat Genom, Atlanta, GA 30332 USA

来源：

NATURE REVIEWS GENETICS | 2012年 / 13卷 / 02期

基金：

美国国家卫生研究院;

关键词：

GENOME-WIDE ASSOCIATION; SINGLE-NUCLEOTIDE POLYMORPHISMS; MISSING HERITABILITY; EPIGENETIC INHERITANCE; GENETIC ARCHITECTURE; SEQUENCE VARIANTS; COMPLEX DISEASE; PATERNAL AGE; LOCI; SUSCEPTIBILITY;

D O I：

10.1038/nrg3118

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genome-wide association studies have greatly improved our understanding of the genetic basis of disease risk. The fact that they tend not to identify more than a fraction of the specific causal loci has led to divergence of opinion over whether most of the variance is hidden as numerous rare variants of large effect or as common variants of very small effect. Here I review 20 arguments for and against each of these models of the genetic basis of complex traits and conclude that both classes of effect can be readily reconciled.

引用

页码：135 / 145

页数：11

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