Linkage disequilibrium: ancient history drives the new genetics

Hum Hered. 2005;59(2):118-24. doi: 10.1159/000085226. Epub 2005 Apr 18.


This brief review provides a summary of the biological causes of genetic association between tightly linked markers--termed linkage disequilibrium--and unlinked markers--termed population structure. We also review the utility of linkage disequilibrium data in gene mapping in isolated populations, in the estimation of recombination rates and in studying the history of particular alleles, including the detection of natural selection. We discuss current understanding of the extent and patterns of linkage disequilibrium in the genome, and its promise for genetic association studies in complex disease. Finally, we highlight the importance of using appropriate statistical procedures, such as the false discovery rate, to maximize the chances of success in large scale association studies.

Publication types

  • Review

MeSH terms

  • Chromosome Mapping
  • Computer Simulation
  • Evolution, Molecular*
  • Genetic Markers / genetics
  • Genetics, Population*
  • Humans
  • Linkage Disequilibrium*
  • Models, Statistical
  • Recombination, Genetic
  • Selection, Genetic


  • Genetic Markers