Skip to content

Expression Quantitative Trait Locus (eQTL)

Definition
AI-generated

An expression quantitative trait locus (eQTL) is a genetic variant statistically associated with RNA abundance or splicing of a gene, typically measured in a relevant tissue; cis-eQTLs lie near the target gene, while trans-eQTLs act at a distance.

Topics
Core genetics
Synonyms
eQTL
Related
Allele-specific expression (ASE) Chromatin Accessibility Quantitative Trait Locus (caQTL) Colocalization

Why it matters in GWAS

eQTL maps from resources such as GTEx help interpret noncoding GWAS hits via overlap, colocalization, and transcriptome-wide association (TWAS), linking variants to candidate effector genes.

Example usage

"The lead SNP colocalized with a whole-blood cis-eQTL for SORT1, supporting a regulatory mechanism."

Allele-specific expression (ASE) Chromatin Accessibility Quantitative Trait Locus (caQTL) Colocalization Genome-Wide Association Study (GWAS) Genotype-Tissue Expression (GTEx) Human Cell Atlas Methylation Quantitative Trait Locus (mQTL) Metabolite Quantitative Trait Locus (metaboQTL) Noncoding Variant Protein Quantitative Trait Locus (pQTL) Pseudobulk Response eQTL RNA Sequencing (RNA-seq) Single-Cell Expression Quantitative Trait Locus (sc-eQTL) Splicing Quantitative Trait Locus (sQTL) Transcriptome Transcriptomics Transcriptome-Wide Association Study (TWAS) Variance Quantitative Trait Locus (varQTL)
Related-term network

Click any node to open that term page.

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

  • Cuomo ASE, Nathan A, Raychaudhuri S, et al. (2023). Single-cell genomics meets human genetics. Nat Rev Genet. https://doi.org/10.1038/s41576-023-00599-5
  • GTEx Consortium. (2020). The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science.
  • Uffelmann E, et al. (2021). Genome-wide association studies. Nat Rev Methods Primers. https://doi.org/10.1038/s43586-021-00056-9
← Exposome Expressivity →

Last updated (UTC · Git history)