Human genetic variation and its contribution to complex traits

被引：723

作者：

Frazer, Kelly A. ^{[1
]}

Murray, Sarah S.

Schork, Nicholas J.

Topol, Eric J.

机构：

[1] Scripps Translat Sci Inst, La Jolla, CA 92037 USA

来源：

NATURE REVIEWS GENETICS | 2009年 / 10卷 / 04期

基金：

美国国家卫生研究院;

关键词：

GENOME-WIDE ASSOCIATION; COPY-NUMBER VARIATION; PROSTATE-CANCER RISK; STRUCTURAL VARIATION; SUSCEPTIBILITY LOCI; COMMON VARIANT; RARE VARIANTS; LINKAGE DISEQUILIBRIUM; POPULATION-GENETICS; SKIN PIGMENTATION;

D O I：

10.1038/nrg2554

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The last few years have seen extensive efforts to catalogue human genetic variation and correlate it with phenotypic differences. Most common SNPs have now been assessed in genome-wide studies for statistical associations with many complex traits, including many important common diseases. Although these studies have provided new biological insights, only a limited amount of the heritable component of any complex trait has been identified and it remains a challenge to elucidate the functional link between associated variants and phenotypic traits. Technological advances, such as the ability to detect rare and structural variants, and a clear understanding of the challenges in linking different types of variation with phenotype, will be essential for future progress.

引用

页码：241 / 251

页数：11

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