Scientific article
Open access

Sex-biased genetic effects on gene regulation in humans

Published inGenome research, vol. 22, no. 12, p. 2368-2375
Publication date2012

Human regulatory variation, reported as expression quantitative trait loci (eQTLs), contributes to differences between populations and tissues. The contribution of eQTLs to differences between sexes, however, has not been investigated to date. Here we explore regulatory variation in females and males and demonstrate that 12%-15% of autosomal eQTLs function in a sex-biased manner. We show that genes possessing sex-biased eQTLs are expressed at similar levels across the sexes and highlight cases of genes controlling sexually dimorphic and shared traits that are under the control of distinct regulatory elements in females and males. This study illustrates that sex provides important context that can modify the effects of functional genetic variants.

  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Genotype
  • Humans
  • Male
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci
  • RNA/genetics
  • Sex Factors
  • Autre - Jeantet
Citation (ISO format)
DIMA, Antigoni et al. Sex-biased genetic effects on gene regulation in humans. In: Genome research, 2012, vol. 22, n° 12, p. 2368–2375. doi: 10.1101/gr.134981.111
Main files (1)
Article (Published version)
ISSN of the journal1088-9051

Technical informations

Creation12/15/2013 11:48:00 PM
First validation12/15/2013 11:48:00 PM
Update time03/14/2023 8:43:19 PM
Status update03/14/2023 8:43:19 PM
Last indexation01/16/2024 8:31:08 AM
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack