Using haplotype blocks to map human complex trait loci

Trends Genet. 2003 Mar;19(3):135-40. doi: 10.1016/S0168-9525(03)00022-2.


Understanding of linkage disequilibrium (LD) in human populations could facilitate the discovery of genes that influence complex human diseases. The "HapMap" project is now underway to characterize patterns of LD in the human genome. A pilot study showed "haplotype blocks" in 51 regions scattered throughout the genome. These intriguing results raise important questions about the nature of recombination, and highlight practical issues of marker collection, the influence of statistical modelling on apparent block structure, and the levels of genotyping necessary for studies of common diseases. Knowledge of local disequilibrium patterns may help identify common polymorphisms involved in complex disease, but completely new analytical methods and experimental designs will be required to identify important rare variants.

Publication types

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

MeSH terms

  • Chromosome Mapping / methods*
  • Forecasting
  • Gene Frequency
  • Genetic Markers
  • Genetic Variation
  • Genome, Human
  • Genotype
  • Haplotypes*
  • Humans
  • Linkage Disequilibrium
  • Models, Genetic
  • Models, Statistical
  • Polymorphism, Single Nucleotide
  • Quantitative Trait, Heritable*
  • Recombination, Genetic


  • Genetic Markers