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      DNA methylation contributes to natural human variation

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          Abstract

          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 genome-scale 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.

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          Author and article information

          Journal
          Genome Research
          Genome Research
          Cold Spring Harbor Laboratory
          1088-9051
          September 01 2013
          September 01 2013
          August 01 2013
          September 01 2013
          : 23
          : 9
          : 1363-1372
          Article
          10.1101/gr.154187.112
          3759714
          23908385
          © 2013

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