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6794215 
Journal Article 
DNA methylation contributes to natural human variation 
Heyn, H; Wang, L; Esteller, M; Moran, S; Hernando-Herraez, I; Sayols, S; Gomez, A; Sandoval, J; Monk, D; Hata, K; Marques-Bonet, T; , 
2013 
Yes 
Genome Research
ISSN: 1088-9051
EISSN: 1549-5469 
COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT 
COLD SPRING HARBOR 
1363-1372 
23908385 
WOS:000324080000001 
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.