Epigenome-wide association studies for common human diseases

VK Rakyan, TA Down, DJ Balding, S Beck - Nature Reviews Genetics, 2011 - nature.com
VK Rakyan, TA Down, DJ Balding, S Beck
Nature Reviews Genetics, 2011nature.com
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 …
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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