A new paper from our group published in the American Journal of Human Genetics highlights the utility of DNA methylation quantitative trait loci (mQTLs), for interpreting the functional consequences of common genetic variation associated with human traits. We describe the first comprehensive analysis of common genetic variation on DNA methylation using the Illumina EPIC array to profile samples from the UK Household Longitudinal (Understanding Society) study. We identified >12 million significant DNA mQTL associations including a large number not identified using previous methylation-profiling methods (i.e. the Illumina 450K array). We demonstrate the utility of these data for interpreting the functional consequences of common genetic variation associated with > 60 human traits, using Summary data–based Mendelian Randomization (SMR) to identify pleiotropic associations between complex traits and DNA methylation sites. We also use SMR to characterize the relationship between DNA methylation and gene expression. Our mQTL database and SMR results are available via a searchable online database as a resource to the research community.
https://www.epigenomicslab.com/wp-content/uploads/2018/10/AJHG.png 506 939 Jonathan Mill /wp-content/uploads/2015/06/Complex-Disease-Epigenetics-Group.png Jonathan Mill2018-10-30 11:53:302018-10-30 11:54:04New study uses DNA methylation quantitative trait loci to characterize the relationship between methylomic variation, gene expression and complex traits