Genetic regulation of methylation across East Asian and European populations.
Journal
Nature communications
Journal Volume
17
Journal Issue
1
Start Page
2616
ISSN
2041-1723
Date Issued
2026-02-11
Author(s)
Liu, Ruize
Chen, Tzu-Ting
Xia, Yan
Ge, Tian
Chen, Chia-Yen
Huang, Hailiang
Lin, Yen-Feng
Abstract
Methylation quantitative trait loci (mQTL) studies have predominantly focused on European populations (EUR), limiting understanding of the genetic regulation of DNA methylation in other populations. We conduct an East Asian (EAS) mQTL analysis, integrating data from three independent samples comprising 7619 Han Chinese individuals. We identified 331,048 mCpGs, including 28,978 novel mCpGs in EAS. While observing substantial sharing of mQTL between EUR and EAS, we also identify EAS-specific mQTLs, often driven by variants with low minor allele frequencies in EUR. We found that mQTLs enriched for disease and trait heritability, especially for matched-ancestry mQTLs, underscoring their utility for interpreting GWAS results and highlighting the role of DNA methylation in diseases. Our EAS mQTL resource provides valuable insights into the genetic architecture of DNA methylation and its contribution to complex traits.
Publisher
Springer Nature
Type
journal article