Linkage and association study of the CTLA‐4 region in coeliac disease for Italian and Tunisian populations

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Abstract
Coeliac disease (CD) is a multifactorial disease for which there is an intensive search for genetic risk factors. Some authors found an association between the CTLA‐4 region and CD. In the present work, we investigate the possible implication of the CTLA‐4 region as a genetic risk factor for CD, through two statistical approaches: the maximum likelihood score (MLS) test in a large Italian sample of affected sib‐pairs using polymorphic genetic markers on chromosome 2, and the transmission disequilibrium test (TDT) in continental Italian and Tunisian families using the CTLA‐4 exon 1 49 A/G polymorphism. None of these approaches provides evidence for linkage or association between the CTLA‐4 region and CD. This might result from a difference in the CTLA‐4 region from population to population, either in its involvement as a risk factor or in the strength of linkage disequilibrium.