Published in

Nature Research, Nature Communications, 1(6), 2015

DOI: 10.1038/ncomms7326

Links

Tools

Export citation

Search in Google Scholar

Long-range epigenetic regulation is conferred by genetic variation located at thousands of independent loci

Journal article published in 2015 by Mathieu Lemire, Syed He E. Zaidi, Maria Ban, Bing Ge, Dylan Aïssi, Marine Germain, Irfahan Kassam ORCID, Mike Wang, Brent W. Zanke, France Gagnon, Pierre-Emmanuel Morange, David-Alexandre Trégouët, Philip S. Wells, Stephen Sawcer ORCID, Steven Gallinger and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Upload
Red circle
Postprint: archiving forbidden
Green circle
Published version: archiving allowed
Upload
Policy details
Data provided by SHERPA/RoMEO

Abstract

AbstractThe 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<3.2 × 10−13; FDR<5%). These trans-meQTLs include 1,657 SNP–CpG pairs from different chromosomes and 262 pairs from the same chromosome that are >1 Mb apart. Over 90% of these pairs are replicated (FDR<5%) in at least one of two independent data sets. Genomic loci harbouring trans-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.