DNA methylation contributes to natural human variation

Holger Heyn, Sebastian Moran, Irene Hernando-Herraez, Sergi Sayols, Antonio Gomez, Juan Sandoval, Dave Monk, Kenichiro Hata, Tomas Marques-Bonet, Liewei Wang, Manel Esteller

Research output: Contribution to journalArticlepeer-review

228 Scopus citations


DNA methylation patterns are important for establishing cell, tissue, and organism phenotypes, but little is known about their contribution to natural human variation. To determine their contribution to variability, we have generated genomescale DNA methylation profiles of three human populations (Caucasian-American, African-American, and Han Chinese-American) and examined the differentially methylated CpG sites. The distinctly methylated genes identified suggest an influence of DNA methylation on phenotype differences, such as susceptibility to certain diseases and pathogens, and response to drugs and environmental agents. DNA methylation differences can be partially traced back to genetic variation, suggesting that differentially methylated CpG sites serve as evolutionarily established mediators between the genetic code and phenotypic variability. Notably, one-third of the DNA methylation differences were not associated with any genetic variation, suggesting that variation in population-specific sites takes place at the genetic and epigenetic levels, highlighting the contribution of epigenetic modification to natural human variation.

Original languageEnglish (US)
Pages (from-to)1363-1372
Number of pages10
JournalGenome Research
Issue number9
StatePublished - Sep 2013

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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