Sex differences in disease genetics: evidence, evolution, and detection.

William P Gilks, Jessica Abbott, Edward H Morrow

Research output: Contribution to journalReview articlepeer-review


Understanding the genetic architecture of disease is an enormous challenge, and should be guided by evolutionary principles. Recent studies in evolutionary genetics show that sexual selection can have a profound influence on the genetic architecture of complex traits. Here, we summarise data from heritability studies and genome-wide association studies (GWASs) showing that common genetic variation influences many diseases and medically relevant traits in a sex-dependent manner. In addition, we discuss how the discovery of sex-dependent effects in population samples is improved by joint interaction analysis (rather than separate-sex), as well as by recently developed software. Finally, we argue that although genetic variation that has sex-dependent effects on disease risk could be maintained by mutation-selection balance and genetic drift, recent evidence indicates that intra-locus sexual conflict could be a powerful influence on complex trait architecture, and maintain sex-dependent disease risk alleles in a population because they are beneficial to the opposite sex.
Original languageEnglish
Pages (from-to)453-463
JournalTrends in Genetics
Issue number10
Publication statusPublished - 2014

Subject classification (UKÄ)

  • Biological Sciences


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