RT Journal Article SR Electronic T1 Worldwide patterns of human epigenetic variation JF bioRxiv FD Cold Spring Harbor Laboratory SP 021931 DO 10.1101/021931 A1 Oana Carja A1 Julia L. MacIsaac A1 Sarah M. Mah A1 Brenna M. Henn A1 Michael S. Kobor A1 Marcus W. Feldman A1 Hunter B. Fraser YR 2015 UL http://biorxiv.org/content/early/2015/07/05/021931.abstract AB DNA methylation is an epigenetic modification, influenced by both genetic and environmental variation, that can affect transcription and many organismal phenotypes. Although patterns of DNA methylation have been shown to differ between human populations, it remains to be determined whether epigenetic diversity mirrors the patterns observed for DNA polymorphisms or gene expression levels. We measured DNA methylation at 480,000 sites in 34 individuals from five diverse human populations in the Human Genome Diversity Panel, and analyzed these together with single nucleotide polymorphisms (SNPs) and gene expression data. We found greater population-specificity of DNA methylation than of mRNA levels, which may be driven by the greater genetic control of methylation. This study provides insights into gene expression and its epigenetic regulation across populations and offers a deeper understanding of worldwide patterns of epigenetic diversity in humans.