title: DNA methylation contributes to natural human variation.
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.
authors.affiliation: Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.
authors.forename: Holger
authors.initials: H
authors.lastname: Heyn
authors.forename: Sebastian
authors.initials: S
authors.lastname: Moran
authors.forename: Irene
authors.initials: I
authors.lastname: Hernando-Herraez
authors.forename: Sergi
authors.initials: S
authors.lastname: Sayols
authors.forename: Antonio
authors.initials: A
authors.lastname: Gomez
authors.forename: Juan
authors.initials: J
authors.lastname: Sandoval
authors.forename: Dave
authors.initials: D
authors.lastname: Monk
authors.forename: Kenichiro
authors.initials: K
authors.lastname: Hata
authors.forename: Tomas
authors.initials: T
authors.lastname: Marques-Bonet
authors.forename: Liewei
authors.initials: L
authors.lastname: Wang
authors.forename: Manel
authors.initials: M
authors.lastname: Esteller
mesh_terms: D000328:Adult; D001741:Black or African American / Q000235:genetics; D001213:Asian / Q000235:genetics; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D005260:Female; D014644:Genetic Variation; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D011153:Population / Q000235:genetics*; D040641:Quantitative Trait Loci; D044465:White People / Q000235:genetics
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