title: Sex-biased genetic effects on gene regulation in humans.
abstract: 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.
authors.affiliation: Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva 1211, Switzerland.
authors.forename: Antigone S
authors.initials: AS
authors.lastname: Dimas
authors.forename: Alexandra C
authors.initials: AC
authors.lastname: Nica
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Montgomery
authors.forename: Barbara E
authors.initials: BE
authors.lastname: Stranger
authors.forename: Towfique
authors.initials: T
authors.lastname: Raj
authors.forename: Alfonso
authors.initials: A
authors.lastname: Buil
authors.forename: Thomas
authors.initials: T
authors.lastname: Giger
authors.forename: Tuuli
authors.initials: T
authors.lastname: Lappalainen
authors.forename: Maria
authors.initials: M
authors.lastname: Gutierrez-Arcelus
authors.forename: Mark I
authors.initials: MI
authors.lastname: McCarthy
authors.forename: Emmanouil T
authors.initials: ET
authors.lastname: Dermitzakis
mesh_terms: D005260:Female; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D012313:RNA / Q000235:genetics; D012737:Sex Factors
chemical_list: D012313:RNA