Long-range epigenetic regulation is conferred by genetic variation located at thousands of independent loci
Open Access
- 26 February 2015
- journal article
- research article
- Published by Springer Nature in Nature Communications
- Vol. 6 (1) , 6326
Abstract
The interplay between genetic and epigenetic variation is only partially understood. One form of epigenetic variation is methylation at CpG sites, which can be measured as methylation quantitative trait loci (meQTL). Here we report that in a panel of lymphocytes from 1,748 individuals, methylation levels at 1,919 CpG sites are correlated with at least one distal (trans) single-nucleotide polymorphism (SNP) (P−13; FDR1 Mb apart. Over 90% of these pairs are replicated (FDRtrans-meQTLs are significantly enriched (P<0.001) for long non-coding transcripts (2.2-fold), known epigenetic regulators (2.3-fold), piwi-interacting RNA clusters (3.6-fold) and curated transcription factors (4.1-fold), including zinc-finger proteins (8.75-fold). Long-range epigenetic networks uncovered by this approach may be relevant to normal and disease states.Keywords
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