Dimas et al. examined expression quantitative trait loci (eQTLs) in male and female cell lines from four HapMap populations; this is the first investigation of whether sex-specific eQTLs exist in humans. The authors found that 12–15% of eQTLs are sex-biased: they affect expression levels in only one sex. In addition, some eQTLs shared by both sexes have a substantially greater effect in one sex. This work shows that considering the sexes separately is likely to be beneficial in studies of the contribution of genetic variation to disease.
ORIGINAL RESEARCH PAPER
Dimas, A. et al. Sex-biased genetic effects on gene regulation in humans. Genome Res. 7 Sep 2012 (doi:10.1101/gr.134981.111)
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Muers, M. Uncovering sex-biased eQTLs. Nat Rev Genet 13, 756 (2012). https://doi.org/10.1038/nrg3359
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DOI: https://doi.org/10.1038/nrg3359