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Protein Quantitative Trait Locus (pQTL)

Definition
AI-generated

A protein quantitative trait locus (pQTL) is a genetic variant associated with the plasma, serum, or tissue abundance of a protein (or peptide feature), typically mapped from affinity or mass-spectrometry proteomics relative to a genome-wide genotype scaffold.

Topics
Core genetics
Synonyms
pQTL
Related
Expression Quantitative Trait Locus (eQTL) Genome-Wide Association Study (GWAS) Mendelian Randomization (MR)

Why it matters in GWAS

pQTLs test whether regulatory or coding GWAS hits propagate to the proteome and can supply protein targets for Mendelian randomization independent of eQTL concordance.

Example usage

"The LDL locus showed a strong cis-pQTL for PCSK9 in the Olink panel."

Expression Quantitative Trait Locus (eQTL) Genome-Wide Association Study (GWAS) Mendelian Randomization (MR) Proteome Proteomics Transcriptome
Related-term network

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Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Ferkingstad E, et al. (2021). Large-scale integration of the plasma proteome with genetics and disease. Nat Genet.
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