Nature Reviews Genetics 9, 911-922 (December 2008) | doi:10.1038/nrg2415

Sex-specific genetic architecture of human disease

Carole Ober1, Dagan A. Loisel1 & Yoav Gilad1  About the authors


Sexual dimorphism in anatomical, physiological and behavioural traits are characteristics of many vertebrate species. In humans, sexual dimorphism is also observed in the prevalence, course and severity of many common diseases, including cardiovascular diseases, autoimmune diseases and asthma. Although sex differences in the endocrine and immune systems probably contribute to these observations, recent studies suggest that sex-specific genetic architecture also influences human phenotypes, including reproductive, physiological and disease traits. It is likely that an underlying mechanism is differential gene regulation in males and females, particularly in sex steroid-responsive genes. Genetic studies that ignore sex-specific effects in their design and interpretation could fail to identify a significant proportion of the genes that contribute to risk for complex diseases.

Author affiliations

  1. Department of Human Genetics, 920 East 58th Street, The University of Chicago, Chicago, Illinois 60637, USA.

Correspondence to: Carole Ober1 Email:


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