Epigenome-wide association studies for common human diseases
Vardhman K Rakyan, Thomas A Down, David J Balding, Stephan Beck
Nature Reviews Genetics | NATURE PUBLISHING GROUP | Published : 2011
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 ..View full abstract
Awarded by Wellcome Trust
S.B. was supported by the Wellcome Trust (084071) and a Royal Society Wolfson Research Merit Award.