The sex-specific genetic architecture of quantitative traits in humans

Nat Genet. 2006 Feb;38(2):218-22. doi: 10.1038/ng1726. Epub 2006 Jan 22.


Mapping genetically complex traits remains one of the greatest challenges in human genetics today. In particular, gene-environment and gene-gene interactions, genetic heterogeneity and incomplete penetrance make thorough genetic dissection of complex traits difficult, if not impossible. Sex could be considered an environmental factor that can modify both penetrance and expressivity of a wide variety of traits. Sex is easily determined and has measurable effects on recognizable morphology; neurobiological circuits; susceptibility to autoimmune disease, diabetes, asthma, cardiovascular and psychiatric disease; and quantitative traits like blood pressure, obesity and lipid levels, among others. In this study, we evaluated sex-specific heritability and genome-wide linkages for 17 quantitative traits in the Hutterites. The results of this study could have important implications for mapping complex trait genes.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Genetic Linkage
  • Genetic Predisposition to Disease / genetics*
  • Genetics, Medical*
  • Genome, Human / genetics
  • Humans
  • Population Groups / genetics
  • Quantitative Trait, Heritable*
  • Sex Characteristics*