RT Journal
A1 Heyn, Holger
A1 Moran, Sebastian
A1 Hernando-Herraez, Irene
A1 Sayols, Sergi
A1 Gomez, Antonio
A1 Sandoval, Juan
A1 Monk, Dave
A1 Hata, Kenichiro
A1 Marques-Bonet, Tomas
A1 Wang, Liewei
A1 Esteller, Manel
T1 DNA methylation contributes to natural human variation
JF Genome Research 
JO Genome Research 
YR 2013 
FD September 01 
VO 23 
IS 9 
SP 1363 
OP 1372 
DO 10.1101/gr.154187.112 
UL http://genome.cshlp.org/content/23/9/1363.abstract 
AB 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.