Associating cellular epigenetic models with human phenotypes

Nat Rev Genet. 2017 Jul;18(7):441-451. doi: 10.1038/nrg.2017.32. Epub 2017 May 30.


Epigenetic association studies have been carried out to test the hypothesis that environmental perturbations trigger cellular reprogramming, with downstream effects on cellular function and phenotypes. There have now been numerous studies of the potential molecular mediators of epigenetic changes by epigenome-wide association studies (EWAS). However, a challenge for the field is the interpretation of the results obtained. We describe a second-generation EWAS approach, which focuses on the possible cellular models of epigenetic perturbations, studied by rigorous analysis and interpretation of genomic data. Thus refocused, epigenetics research aligns with the field of functional genomics to provide insights into environmental and genetic influences on phenotypic variation in humans.

Publication types

  • Review

MeSH terms

  • Animals
  • Cellular Reprogramming
  • DNA Methylation
  • Disease / genetics*
  • Epigenesis, Genetic*
  • Genetic Variation
  • Genome-Wide Association Study
  • Humans
  • Models, Genetic*
  • Neoplasms / genetics
  • Phenotype*
  • Transcription Factors / metabolism


  • Transcription Factors