Population choice in mapping genes for complex diseases

Nat Genet. 1999 Dec;23(4):397-404. doi: 10.1038/70501.


The difficulty of identifying susceptibility genes for common diseases has polarized geneticists' views on what disease models are appropriate and how best to proceed once high-density genome maps become available. Different disease models have different implications for using linkage or linkage-disequilibrium-based approaches for mapping complex disease genes. We argue that the choice of study population is a critical factor when designing a study, and that genetically simplified isolates are more useful than diverse continental populations under most assumptions.

Publication types

  • Review

MeSH terms

  • Alleles
  • Chromosome Mapping / methods*
  • Female
  • Genetic Diseases, Inborn / genetics*
  • Genetic Linkage
  • Genetic Variation
  • Genetics, Population
  • Humans
  • Linkage Disequilibrium
  • Male
  • Models, Genetic
  • Mutation
  • Phenotype