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Genetic susceptibility to coeliac disease

Final Activity Report Summary - CD-GENETICS (Genetic susceptibility to coeliac disease)

Celiac disease is an autoimmune type of small intestine inflammation in which dietary gluten triggers the mucosal damage. The only known cure is strict life-long gluten free diet. The disease is partially genetic, but complex, and in addition to the known strong risk factors HLA-DQ2 and -DQ8 there must be several additional risk genes as well as environmental risk factors. In this project we aimed to map and characterise genetic risk factors for celiac disease by the use of large family and patient-control cohorts from Finland, Hungary and Italy.

During the project we expanded our Finnish collection by 730 new families with CD and this material will form the main basis of our research in the following years. We found evidence for IL2/21 gene cluster, IL23R region, IL18RAP and ICOS genes conferring risk to CD, and further genetic and functional studies in these regions are on-going.

We also set up a leukocyte library with whole genome SNP and expression data to study the correlations between (risk) genotypes and expression levels of the genes. We further participated in international project on whole genome association study on celiac disease, as well as in a project aiming to development of a vaccine or immunotherapy for celiac disease.