Haplotype analysis in population genetics and association studies

Pharmacogenomics. 2003 Mar;4(2):171-8. doi: 10.1517/phgs.


Several studies of haplotype structures in the human genome in various populations have been published recently. Such knowledge may provide valuable information on human evolutionary history and lead to the development of more efficient strategies to identify genetic variants that increase susceptibility to human diseases. In this review, we summarize the current understanding of haplotype structure, diversity, and distribution in the human genome, with a focus on statistical issues in using haplotypes for studies of population genetics and evolutionary history, as well as to identify genetic variants underlying complex human traits.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Evolution, Molecular
  • Gene Frequency
  • Genetics, Population / methods*
  • Genome, Human
  • Haplotypes*
  • Humans
  • Linkage Disequilibrium