Genome-wide association studies for complex traits: consensus, uncertainty and challenges

被引：1979

作者：

McCarthy, Mark I. ^{[1
]}

Abecasis, Goncalo R. ^{[2
]}

Cardon, Lon R. ^{[4
]}

Goldstein, David B. ^{[3
]}

Little, Julian ^{[5
]}

Ioannidis, John P. A. ^{[6
,7
,8
]}

Hirschhorn, Joel N. ^{[9
,10
,11
,12
,13
]}

机构：

[1] Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England

[2] Univ Michigan, Dept Biostat, Ctr Stat Genet, Ann Arbor, MI 48109 USA

[3] Duke Univ, Med Ctr, Ctr Populat Genom & Pharmacogenet, Duke Inst Genom Sci & Policy, Durham, NC 27708 USA

[4] Fred Hutchinson Canc Res Ctr, Seattle, WA 98109 USA

[5] Univ Ottawa, Dept Epidemiol & Community Med, Ottawa, ON, Canada

[6] Univ Ioannina, Sch Med, Clin & Mol Epidemiol Unit, Dept Hyg & Epidemiol, GR-45110 Ioannina, Greece

[7] Fdn Res & Technol Hellas, Biomed Res Inst, Ioannina 45110, Greece

[8] Tufts Univ, Sch Med, Dept Med, Boston, MA 02111 USA

[9] Childrens Hosp, Div Genet & Endocrinol, Boston, MA 02115 USA

[10] Childrens Hosp, Program Genom, Boston, MA 02115 USA

[11] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA

[12] MIT, Broad Inst, Cambridge, MA 02142 USA

[13] Harvard Univ, Cambridge, MA 02142 USA

来源：

NATURE REVIEWS GENETICS | 2008年 / 9卷 / 05期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/nrg2344

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The past year has witnessed substantial advances in understanding the genetic basis of many common phenotypes of biomedical importance. These advances have been the result of systematic, well-powered, genome-wide surveys exploring the relationships between common sequence variation and disease predisposition. This approach has revealed over 50 disease-susceptibility loci and has provided insights into the allelic architecture of multifactorial traits. At the same time, much has been learned about the successful prosecution of association studies on such a scale. This Review highlights the knowledge gained, defines areas of emerging consensus, and describes the challenges that remain as researchers seek to obtain more complete descriptions of the susceptibility architecture of biomedical traits of interest and to translate the information gathered into improvements in clinical management.

引用

页码：356 / 369

页数：14

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