Epigenome-wide Association Studies for Common Human Diseases

Overview

Journal Nat Rev Genet

Specialty Genetics

Date 2011 Jul 13

PMID 21747404

Citations 618

Authors

Vardhman K Rakyan

Thomas A Down

David J Balding

Stephan Beck

Affiliations

Soon will be listed here.

Abstract

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.

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