eQTL

Science & Engineering abbreviation · Genetics

eQTL
Stands forExpression quantitative trait locus
CategoriesScience & Engineering

eQTL stands for Expression quantitative trait locus, a genetics abbreviation.

Genetic variant associated with differences in how strongly a gene is expressed, measured as RNA levels. Because most disease-linked variants lie outside protein-coding regions, eQTL maps help explain how they act by revealing which genes they turn up or down.

Example: The asthma risk variant is a strong eQTL for ORMDL3 in blood cells.

Usage notes

The Genotype-Tissue Expression (GTEx) project maps eQTLs across dozens of human tissues. A cis-eQTL lies near the gene it affects, while a trans-eQTL acts on distant genes. Related terms include sQTL for splicing and pQTL for protein levels.

More genetics abbreviations

  • cDNA – Complementary DNA
  • ChIP-seq – Chromatin immunoprecipitation sequencing
  • cM – Centimorgan
  • CNV – Copy-number variation
  • CpG – Cytosine-phosphate-guanine (site)
  • dsDNA – Double-stranded DNA
  • FISH – Fluorescence in situ hybridization
  • GC – Guanine-cytosine (content)
  • gDNA – Genomic DNA
  • GWAS – Genome-wide association study
  • HDR – Homology-directed repair
  • HGP – Human Genome Project

See all 57 genetics abbreviations →