Volume 69, Issue 3

Integrating Case‐control and TDT Studies

G. R. Kazeem

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK

Department of Statistics, University of Oxford, Oxford, UK

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M. Farrall

Department of Cardiovascular Medicine, University of Oxford, Oxford, UK

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First published: 19 December 2005
Citations: 128
Corresponding author: G. R. Kazeem. The Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford OX3 7BN, UK. Phone: +44 (0) 1865 287 608. Fax: +44 (0) 1865 287 664. Email: gbenga@well.ox.ac.uk

Summary

Genetic‐association studies are widely expected to unravel the genetic basis of complex diseases. The population‐based case‐control study, a commonly used approach for association studies, is subject to the problem of population admixture. Consequently, evidence of disease‐marker associations obtained from such studies is ideally confirmed by alternative methods. The Transmission/Disequilibrium Test (TDT) is suitable to assess evidence of association obtained from case‐control studies. Since data are increasingly available from both case‐control and TDT studies of the same disease‐marker association, it is useful to obtain a combined estimate of disease‐marker association. The odds ratio is a commonly used measure of the magnitude of a disease‐marker association that can be easily obtained in case‐control studies. Here we show how an odds ratio estimate and its' associated standard error can be obtained from TDT results. Furthermore, we suggest a method for integrating results from case‐control studies and the TDT to provide a combined estimate of disease‐marker association. Such combined estimates can be used to contrast the results of the two studies and provides an overall picture of the effect size attributable to such polymorphism. An illustrative application is made to a published data set on type 2 diabetes.

Number of times cited according to CrossRef: 128

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