High density methylation QTL analysis in human blood via next-generation sequencing of the methylated genomic DNA fraction.

ABSTRACT:

Background

Genetic influence on DNA methylation is potentially an important mechanism affecting individual differences in humans. We use next-generation sequencing to assay blood DNA methylation at approximately 4.5 million loci, each comprising 2.9 CpGs on average, in 697 normal subjects. Methylation measures at each locus are tested for association with approximately 4.5 million single nucleotide polymorphisms (SNPs) to exhaustively screen for methylation quantitative trait loci (meQTLs).

Results

Using stringent false discovery rate control, 15 % of methylation sites show genetic influence. Most meQTLs are local, where the associated SNP and methylation site are in close genomic proximity. Distant meQTLs and those spanning different chromosomes are less common. Most local

SUBMITTER: McClay JL 

PROVIDER: S-EPMC4699364 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature