Epigenome-wide association studies for common human diseases

Nat Rev Genet. 2011 Jul 12;12(8):529-41. doi: 10.1038/nrg3000.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomarkers
  • DNA Methylation
  • Epigenomics / methods*
  • Gene Expression Profiling
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Genome, Human
  • Genome-Wide Association Study / methods*
  • Haplotypes
  • Humans
  • Oligonucleotide Array Sequence Analysis
  • Sequence Analysis, DNA


  • Biomarkers