Genome-wide variation of cytosine modifications between European and African populations and the implications for complex traits.

ABSTRACT: Elucidating cytosine modification differences between human populations can enhance our understanding of ethnic specificity in complex traits. In this study, cytosine modification levels in 133 HapMap lymphoblastoid cell lines derived from individuals of European or African ancestry were profiled using the Illumina HumanMethylation450 BeadChip. Approximately 13% of the analyzed CpG sites showed differential modification between the two populations at a false discovery rate of 1%. The CpG sites with greater modification levels in European descent were enriched in the proximal regulatory regions, while those greater in African descent were biased toward gene bodies. More than half of the detected population-specific cytosine modifications could be explained primarily by local genetic variati

SUBMITTER: Moen EL 

PROVIDER: S-EPMC3730924 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature