Celiac Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Celiac Disease, including details on symptoms, diagnosis, causes, diet.

Genetics in coeliac disease.

van Heel DA, Hunt K, Greco L, Wijmenga C

Department of Gastroenterology, Imperial College London, Du Cane Road, London W12 0NN, UK. d.vanheel@imperial.ac.uk

Coeliac disease has a strong genetic component, higher than for many other common complex diseases. Possession of the HLA-DQ2 variant is required for presentation of disease causing dietary antigens to T cells, although this is also common in the healthy population. Non-HLA genetic factors account for the majority of heritable risk. Linkage studies have identified promising regions on chromosomes 5 and 19, with multiple other loci awaiting definitive confirmation in independent studies. Inherited variants in the tightly clustered chromosome 2q CD28-CTLA4-ICOS region are associated with disease, although of weak effect size. Larger sample sizes are necessary in coeliac disease genetic studies to detect small effects, alternatively meta-analysis offers promise. Newer methods including gene expression analysis and genome wide association studies will advance understanding of genetic susceptibility. Identification of coeliac disease genes may improve diagnostic/prognostic markers, basic understanding of disease aetiology, permit development of novel therapeutics and provide insight into other autoimmune disorders.

Published 31 May 2005 in Best Pract Res Clin Gastroenterol, 19(3): 323-39.
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