Collapsed methylation quantitative trait loci analysis for low frequency and rare variants.

ABSTRACT:

Background

Single variant approaches have been successful in identifying DNA methylation quantitative trait loci (mQTL), although as with complex traits they lack the statistical power to identify the effects from rare genetic variants. We have undertaken extensive analyses to identify regions of low frequency and rare variants that are associated with DNA methylation levels.

Methods

We used repeated measurements of DNA methylation from five different life stages in human blood, taken from the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort. Variants were collapsed across CpG islands and their flanking regions to identify variants collectively associated with methylation, where no single variant was individually responsible for the observed signal. All analys

SUBMITTER: Richardson TG 

PROVIDER: S-EPMC5291201 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature