Epigenome-wide association studies for common human diseases

被引：886

作者：

Rakyan, Vardhman K. ^{[1
]}

Down, Thomas A. ^{[2
,3
]}

Balding, David J. ^{[4
]}

Beck, Stephan ^{[5
]}

机构：

[1] Univ London, Barts & London Sch Med & Dent, Blizard Inst Cell & Mol Sci, London E1 2AT, England

[2] Univ Cambridge, Wellcome Trust Canc Res UK Gurdon Inst, Cambridge CB2 1QR, England

[3] Univ Cambridge, Dept Genet, Cambridge CB2 1QR, England

[4] UCL, Genet Inst, London WC1E 6BT, England

[5] UCL, UCL Canc Inst, London WC1E 6BT, England

来源：

NATURE REVIEWS GENETICS | 2011年 / 12卷 / 08期

基金：

英国惠康基金;

关键词：

DNA METHYLATION PROFILES; HUMAN GENOME; COLORECTAL-CANCER; SINGLE-MOLECULE; HIGH-THROUGHPUT; COMPLEX TRAITS; HAPLOTYPE MAP; STEM-CELLS; METHYLOME; GENE;

D O I：

10.1038/nrg3000

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Despite the success of genome-wide association studies (GWASs) in identifying loci associated with common diseases, a substantial proportion of the causality remains unexplained. Recent advances in genomic technologies have placed us in a position to initiate large-scale studies of human disease-associated epigenetic variation, specifically variation in DNA methylation. Such epigenome-wide association studies (EWASs) present novel opportunities but also create new challenges that are not encountered in GWASs. We discuss EWAS design, cohort and sample selections, statistical significance and power, confounding factors and follow-up studies. We also discuss how integration of EWASs with GWASs can help to dissect complex GWAS haplotypes for functional analysis.

引用

页码：529 / 541

页数：13

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