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Genetic Background of Celiac Disease and Its Clinical Implications

Wolters, Victorien M., M.D.1; Wijmenga, Cisca, Ph.D.2,3

American Journal of Gastroenterology: January 2008 - Volume 103 - Issue 1 - p 190–195

Celiac disease (CD) is a complex genetic disorder with multiple contributing genes. Linkage studies have identified several genomic regions that probably contain CD susceptibility genes. The most important genetic factors identified are HLA-DQ2 and HLA-DQ8, which are necessary but not sufficient to predispose to CD. The associations found in non-HLA genomewide linkage and association studies are much weaker. This might be because a large number of non-HLA genes contributes to the pathogenesis of CD. Hence, the contribution of a single predisposing non-HLA gene might be quite modest. Practically all CD patients carry HLA-DQ2 or HLA-DQ8, while the absence of these molecules has a negative predictive value for CD close to 100%. Genetic risk profiles for CD would be helpful in clinical practice for predicting disease susceptibility and progression.

1Department of Pediatric Gastroenterology; 2Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands; and 3Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands

Reprint requests and correspondence: Cisca Wijmenga, Ph.D., Department of Genetics, University Medical Centre Groningen, P.O. Box 30 001, 9700 RB Groningen, The Netherlands.

Received May 14, 2007; accepted June 27, 2007.

CONFLICT OF INTERESTGuarantor of the article: Cisca Wijmenga, Ph.D.

Specific author contributions: Each of the two authors contributed equally to the article.

Financial support: Victorien Wolters received funding from The Wilhelmina Research Fund and Cisca Wijmenga received funding from the Netherlands Organization of Scientific Research, the Dutch Digestive Diseases Foundation, and the Celiac Disease Consortium, an Innovative Cluster approved by the Netherlands Genomics Initiative and partially funded by the Dutch Government (BSIK03009).

Potential competing interests: None.

© The American College of Gastroenterology 2008. All Rights Reserved.
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