Project B: Genetics of celiac disease

Department of Genetics
Coordinator: Cleo van Diemen, PhD

Celiac disease is an autoimmune disorder of the small intestine caused by a reaction to gluten, a protein found in wheat. It is estimated to affect approximately 1% of the population. Symptoms include diarrhea, failure to thrive and abdominal distention. The only treatment is a life-long gluten-free diet. Celiac disease is a complex disorder with a strong genetic component. The first genome-wide association study on celiac disease and its follow-up have identified 8 new genetic loci that contribute significantly towards celiac disease risk.

We are currently performing a second genome-wide association study including more than 3000 celiac disease patients. We expect to identify new risk genes which need to be validated in independent population cohorts available in our laboratory: Italians, Polish, UK, Irish, and Saharawi. In addition, the genes that have already been associated to celiac disease show overlap with other immune-related diseases. We will therefore also use patient cohorts with different immune-related diseases, such as rheumatoid arthritis, systemic lupus erythematosus, Crohn’s disease and ulcerative colitis. The aim of this project is thus 1) to study the genetics of celiac disease in different populations by genotyping the newly identified loci and 2) to find new associations  of celiac disease associated genes with other immune-related diseases.