Sex- and age-interacting eQTLs in human complex diseases

Hum Mol Genet. 2014 Apr 1;23(7):1947-56. doi: 10.1093/hmg/ddt582. Epub 2013 Nov 15.


Many complex human diseases exhibit sex or age differences in gene expression. However, the presence and the extent of genotype-specific variations in gene regulation are largely unknown. Here, we report results of a comprehensive analysis of expression regulation of genetic variation related to 11,672 complex disease-associated SNPs as a function of sex and age in whole-blood-derived RNA from 5254 individuals. At false discovery rate <0.05, we identified 14 sex- and 10 age-interacting expression quantitative trait loci (eQTLs). We show that these eQTLs are also associated with many sex- or age-associated traits. These findings provide important context regarding the regulation of phenotypes by genotype-environment interaction.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • Female
  • Gene Expression
  • Gene Expression Profiling
  • Gene Expression Regulation / genetics*
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Lysophospholipase / genetics
  • Male
  • Membrane Transport Proteins / genetics
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci / genetics*
  • Sex Factors


  • Membrane Transport Proteins
  • choline transporter-like protein 4, human
  • Lysophospholipase
  • LYPLAL1 protein, human