Sex-biased genetic effects on gene regulation in humans

Antigone S. Dimas, Alexandra C. Nica, Stephen B. Montgomery, Barbara E. Stranger, Towfique Raj, Alfonso Buil, Thomas Giger, Tuuli Lappalainen, Maria Gutierrez-Arcelus, Mark I. McCarthy, Emmanouil T. Dermitzakis

Research output: Contribution to journalArticlepeer-review

71 Scopus citations


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.

Original languageEnglish
Pages (from-to)2368-2375
Number of pages8
JournalGenome Research
Issue number12
StatePublished - Dec 2012
Externally publishedYes


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