Genetic regulation of methylation across East Asian and European populations.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 41672998.
- Also identified by DOI 10.1038/s41467-026-69372-6 and PMC identifier 13002944.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- DNA Methylation
- Quantitative Trait Loci
- Asian People
- White People