Isolated populations and complex disease gene identification

Genome Biol. 2008;9(8):109. doi: 10.1186/gb-2008-9-8-109. Epub 2008 Aug 26.


The utility of genetically isolated populations (population isolates) in the mapping and identification of genes is not only limited to the study of rare diseases; isolated populations also provide a useful resource for studies aimed at improved understanding of the biology underlying common diseases and their component traits. Well characterized human populations provide excellent study samples for many different genetic investigations, ranging from genome-wide association studies to the characterization of interactions between genes and the environment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Disease / genetics*
  • Founder Effect*
  • Genetic Heterogeneity
  • Genetic Variation
  • Genomics*
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Social Isolation