Sex- and age-interacting eQTLs in human complex diseases Academic Article uri icon

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  • 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.


  • Yao, Chen
  • Joehanes, Roby
  • Johnson, Andrew
  • Huan, Tianxiao
  • Esko, Tõnu
  • Ying, Saixia
  • Freedman, Jane E
  • Murabito, Joanne
  • Lunetta, Kathryn L
  • Metspalu, Andres
  • Munson, Peter J
  • Levy, Daniel

publication date

  • April 1, 2014

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