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Methylation Quantitative Trait Locus (mQTL)

Definition
AI-generated

A methylation quantitative trait locus (mQTL; often written meQTL) is a genetic variant associated with DNA methylation level at one or more CpG sites or regions, typically measured by array or bisulfite sequencing in a relevant tissue or cell type.

Topics
Core genetics
Synonyms
meQTL DNA methylation QTL
Related
Bisulfite Sequencing Chromatin Epigenetics

Why it matters in GWAS

mQTLs connect noncoding GWAS variants to epigenetic readouts; overlap or colocalization with disease associations supports regulatory mechanisms involving DNA methylation.

Example usage

"The lead SNP was a cis-mQTL for a promoter CpG in whole blood, consistent with altered chromatin state."

Bisulfite Sequencing Chromatin Epigenetics Epigenome Expression Quantitative Trait Locus (eQTL) Genome-Wide Association Study (GWAS)
Related-term network

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References

  • McRae AF, et al. (2018). Identification of 55,000 replicated DNA methylation QTL. Sci Rep.
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