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Briefings in Bioinformatics 2002 3(2):146-153; doi:10.1093/bib/3.2.146
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© Henry Stewart Publications

Genetic association studies: Design, analysis and interpretation

Cathryn M. Lewis
Senior lecturer in Genetic Epidemiology and Statistics at Guy's, King's and St. Thomas' School of Medicine. Her research interests are the localisation of genes for complex disorders through linkage and association.


Cathryn Lewis, Division of Medical and Molecular Genetics, 8th Floor, Guy's Tower, Guy's Hospital, London SE1 9RT, UK Tel: +44 (0) 20 7955 8761 Fax: +44 (0) 20 7955 4644 E-mail: cathryn.lewis{at}kcl.ac.uk

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.

Keywords: case control study, TDT, population stratification


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