Genetic background of celiac disease and its clinical implications.

Department of Pediatric Gastroenterology, University Medical Center, Utrecht, The Netherlands.
The American Journal of Gastroenterology (Impact Factor: 9.21). 02/2008; 103(1):190-5. DOI: 10.1111/j.1572-0241.2007.01471.x
Source: PubMed

ABSTRACT 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.

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