DNA methylation contributes to natural human variation

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 (...

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Bibliographic Details
Published in:Genome research Vol. 23; no. 9; p. 1363
Main Authors: Heyn, Holger, Moran, Sebastian, Hernando-Herraez, Irene, Sayols, Sergi, Gomez, Antonio, Sandoval, Juan, Monk, Dave, Hata, Kenichiro, Marques-Bonet, Tomas, Wang, Liewei, Esteller, Manel
Format: Journal Article
Language:English
Published: United States 01.09.2013
Subjects:
Adult
African Americans - genetics
Asian Americans - genetics
DNA Methylation
Epigenesis, Genetic
European Continental Ancestry Group - genetics
Female
Genetic Variation
Genome, Human
Genome-Wide Association Study
Humans
Male
Population - genetics
Quantitative Trait Loci
ISSN:1549-5469, 1549-5469
Online Access:Get more information
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Summary: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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ISSN:1549-5469
1549-5469
DOI:10.1101/gr.154187.112