Research update: Genome association
Genome wide association study in coeliac disease
Dr David van Heel BM BCh MRCP Dphil
Queen Mary University of London
Why only 1% of the population develop coeliac disease when nearly all eat wheat remains unclear, despite advances in understanding which gluten fragments generate immune responses. Coeliac disease has a strong inherited genetic tendency (i.e. runs in families) of which only a minor part is currently understood.
We will undertake a large scale collaborative study to identify, and then understand the role of, genetic variants causing coeliac disease. This novel strategy 'genome wide association study' has only just become possible due to new technology. We aim to study over 100,000 different genetic variants initially and use multiple large populations of coeliac and control subjects (~5000 people, most DNA samples are already collected) to determine exactly which genes contain important disease causing variants. We will search for variants (e.g. changing a protein's structure or levels) that are more (or less) common in coeliacs than controls. Importantly our study will thoroughly search through all 30,000 human genes, and due to the association methodology and large sample sizes, the project will be much more powerful than previous coeliac disease genetic studies.
Understanding the genetic causes of coeliac disease will have many implications, including novel clinical tests for coeliac disease and easier/better treatments.
