RT Journal
A1 Dimas, Antigone S.
A1 Nica, Alexandra C.
A1 Montgomery, Stephen B.
A1 Stranger, Barbara E.
A1 Raj, Towfique
A1 Buil, Alfonso
A1 Giger, Thomas
A1 Lappalainen, Tuuli
A1 Gutierrez-Arcelus, Maria
A1 MuTHER Consortium
A1 McCarthy, Mark I.
A1 Dermitzakis, Emmanouil T.
T1 Sex-biased genetic effects on gene regulation in humans
JF Genome Research 
JO Genome Research 
YR 2012 
FD December 01 
VO 22 
IS 12 
SP 2368 
OP 2375 
DO 10.1101/gr.134981.111 
UL http://genome.cshlp.org/content/22/12/2368.abstract 
AB 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.