A computational model for sex-specific genetic architecture of complex traits in humans: implications for mapping pain sensitivity

Mol Pain. 2008 Apr 16:4:13. doi: 10.1186/1744-8069-4-13.

Abstract

Understanding differences in the genetic architecture of complex traits between the two sexes has significant implications for evolutionary studies and clinical diagnosis. However, our knowledge about sex-specific genetic architecture is limited largely because of a lack of analytical models that can detect and quantify the effects of sex on the complexity of quantitative genetic variation. Here, we derived a statistical model for mapping DNA sequence variants that contribute to sex-specific differences in allele frequencies, linkage disequilibria, and additive and dominance genetic effects due to haplotype diversity. This model allows a genome-wide search for functional haplotypes and the estimation and test of haplotype by sex interactions and sex-specific heritability. The model, validated by simulation studies, was used to detect sex-specific functional haplotypes that encode a pain sensitivity trait in humans. The model could have important implications for mapping complex trait genes and studying the detailed genetic architecture of sex-specific differences.

Publication types

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

MeSH terms

  • Female
  • Genetic Variation
  • Humans
  • Male
  • Models, Genetic*
  • Models, Statistical
  • Pain Threshold*
  • Polymorphism, Single Nucleotide
  • Quantitative Trait, Heritable*
  • Sex Characteristics*