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.
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