Genetic association studies: design, analysis and interpretation

Brief Bioinform. 2002 Jun;3(2):146-53. doi: 10.1093/bib/3.2.146.


This paper provides a review of the design and analysis of genetic association studies. In case control studies, the different contingency tables and their relationships to the underlying genetic model are defined. Population stratification is discussed, with suggested methods to identify and correct for the effect. The transmission disequilibrium test is provided as an alternative family-based test, which is robust to population stratification. The relative benefits of each analysis are summarised.

Publication types

  • Review

MeSH terms

  • Case-Control Studies*
  • Data Interpretation, Statistical
  • Gene Frequency
  • Genetic Techniques*
  • Haplotypes
  • Linkage Disequilibrium*
  • Microsatellite Repeats
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • Research Design*