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Genetics of Large Populations and Association Studies

  1. Pauline Hélène Garnier-Géré1,
  2. Lounès Chikhi2

Published Online: 14 MAR 2008

DOI: 10.1002/9780470015902.a0005446.pub2



How to Cite

Garnier-Géré, P. H. and Chikhi, L. 2008. Genetics of Large Populations and Association Studies. eLS. .

Author Information

  1. 1

    INRA – UMR1202 Biodiversity Genes & Communities, Cestas, France

  2. 2

    Université Paul Sabatier, UMR CNRS 5174, Evolution et diversité Biologique, Toulouse, France

Publication History

  1. Published Online: 14 MAR 2008

This is not the most recent version of the article. View current version (15 NOV 2013)


Association studies aim to discover the genetic basis of genetic diseases or drug responses through the comparison of unrelated affected and nonaffected individuals in large populations assumed to be at Hardy–Weinberg equilibrium (HWE). The HWE principle and the main causes of departures are first described with a focus on population stratification (Wahlund effect), which is one of the major problems in association studies. Recent statistical methods developed to detect and control for it are briefly reviewed.


  • Hardy–Weinberg equilibrium;
  • Wahlund effect;
  • population stratification;
  • linkage disequilibrium;
  • association studies