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Metabolite Quantitative Trait Locus (metaboQTL)

Definition
AI-generated

A metabolite quantitative trait locus (metaboQTL) is a genetic variant associated with the level of one or more small-molecule metabolites, usually from NMR or mass spectrometry profiling of plasma or urine.

Topics
Core genetics
Synonyms
mQTL (metabolite context; ambiguous with methylation mQTL)
Related
Genome-Wide Association Study (GWAS) Lipid Quantitative Trait Locus Metabolome

Why it matters in GWAS

MetaboQTLs annotate GWAS loci with enzymatic and transport pathways downstream of the genome, complementing eQTL evidence for the same intervals.

Example usage

"The SNP was a cis-metaboQTL for a branched-chain amino acid ratio in fasting serum."

Genome-Wide Association Study (GWAS) Lipid Quantitative Trait Locus Metabolome Methylation Quantitative Trait Locus (mQTL) Multi-Omics
Related-term network

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References

  • Kettunen J, et al. (2016). Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA. Nat Commun.
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