期刊
NATURE COMMUNICATIONS
卷 6, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms7326
关键词
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资金
- Ontario Research Fund (GL2 competition)
- Canadian Institutes of Health Research
- European Community's Seventh Framework Programme-ENGAGE Consortium [HEALTH-F4-2007-201413]
- Ontario Institute for Cancer Research from the Ontario Ministry of Research and Innovation
- National Cancer Institute, National Institutes of Health [CA-95-011]
- Cambridge NIHR Biomedical Research Centre
- UK Medical Research Council [G1100125]
- CIHR
- FRSQ (RMGA)
- Program Hospitalier de Recherche Clinique
- GenMed LABEX [ANR-10-LABX-0013]
- Canadian Institutes of Health Research [MOP 86466, MOP86466]
- Heart and Stroke Foundation of Canada [T6484]
- Region Ile de France
- Pierre and Marie Curie University
- ICAN Institute for Cardiometabolism and Nutrition [ANR-10-IAHU-05]
- Region Ile de France (CORDDIM)
- [U01 CA074783]
- MRC [G1100125] Funding Source: UKRI
- Medical Research Council [G1100125] Funding Source: researchfish
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<3.2 x 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 >1Mb 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.
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