Summary
This study presents a comprehensive catalogue of genetic influences on DNA methylation across five life stages from birth to middle age, using blood samples from a longitudinal cohort. The authors demonstrate that genetic effects on methylation are remarkably stable across the lifespan, with developmental changes driven primarily by increases in environmental or stochastic variation rather than changes in genetic influence. The findings suggest that methylation may have a causal role in complex disease through a polygenic infinitesimal model, with a large heritable component that persists across the human lifespan.
UK applicability
As a foundational UK-based epigenetic resource study, these findings are directly applicable to understanding the biological mechanisms underlying complex disease susceptibility in UK populations. The mQTL database and life-course perspective may inform future nutritional or public health interventions aimed at modifying methylation patterns during critical developmental windows.
Key measures
Methylation quantitative trait loci (mQTL); cis-acting and trans-acting genetic variants; proportion of mQTL effects; heritability of methylation; contribution of methylation to complex trait variation
Outcomes reported
The study mapped genetic influences on DNA methylation (mQTL) at five life stages in human blood (birth, childhood, adolescence, and mothers during pregnancy and middle age). It characterised the stability of genetic effects on methylation across the lifespan and estimated the contribution of methylation variation to complex traits.
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