Genetic impacts on human methylome variation

Studies of the human methylome have identified several drivers of DNA methylation variability. Over the past decade multiple efforts have found that a proportion of the human methylome is under genetic control. I will present applications of twin studies and population cohort-based study designs to identify genetic impacts on the human blood methylome. An overview of the extent of human methylome variation that is estimated to be under genetic control will be presented, based on recent large-scale datasets profiled on the Illumina Infinium HumanMethylation450 and MethylationEPIC BeadChips. Further analyses exploring the relationship between genetic influences on DNA methylation and human phenotypes has identified a series of co-localisation events, giving some insights into how these signals relate to human health. Identifying genetic impacts on DNA methylation can improve our understanding of pathways that underlie gene regulation and disease risk.