To determine heritable germline genetic variants pre-disposing to coeliac disease

Principal investigator: Professor David van Heel

Institution: Imperial College London

Research classification: Aetiology

Project completion: 2007

Grant awarded: £300K

Coeliac disease has a strong genetic tendency (i.e. runs in families) but the reason for this was not fully understood. This research project identified genes associated with coeliac disease and genes that were associated with both coeliac disease and another autoimmune condition, Type 1 diabetes.

This was a very powerful study compared to previous research as it involved searching through all 30,000 human genes in DNA samples from approximately 5,000 people.  

Understanding the genetic cause of disease is important for developing new tests for the diagnosis of coeliac disease and potential new treatments.

Associated publications:

van Heel DA, Franke L, Hunt KA, et al. 2007. A genome-wide association study for celiac disease identifies risk variants in the region harbouring IL2 and IL21. Nature Genetics Jul;39(7) 827-9

van Heel DA and West J. 2006. Recent advances in coeliac disease. Gut Jul;55(7) 1037-46

Hunt KA, Monsuur AJ, McArdle WL eat al. 2006. Lack of association of MYO9B genetic variants with coeliac disease in a British cohort. Gut Jul;55(7) 969-72