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Identification of genetic risk factor for coeliac disease promises improved treatment

An international research consortium investigating the genetic causes of intestinal inflammatory conditions has identified a new genetic risk factor for coeliac disease. The findings, published online today (10 June 2007) in the science journal Nature Genetics, could pave the way towards improved diagnostics and treatments for the common, lifelong complaint.

Led by David van Heel, Professor of Gastrointestinal Genetics at Queen Mary, University of London, the study - funded by the charity Coeliac UK, and the Wellcome Trust - has revealed that those suffering from coeliac disease lack a protective DNA sequence in a specific gene region, otherwise found in healthy individuals.

Behind the success of the study are the Human Genome Project and the Hap Map Project, international research efforts to reveal the entire sequence of all the human chromosomes - and the functional units embedded within - and to correlate that information to common sequence variation in the human population.

Dr Panos Deloukas, Senior Investigator in Human Genetics at the Wellcome Trust Sanger Institute, and part of the research consortium, said: These resources coupled with technological advances have enabled us to scan variation across the human genome in large numbers of people for association to disease. The Sanger Institute made available to the study the genome data on 1500 British individuals used as controls (i.e without coeliac disease). The consortium studied over four thousand individuals with and without coeliac disease, amongst British, Irish and Dutch populations.

What they found is that healthy individuals more often have a protective DNA sequence in the interleukin-2 and interleukin-21 gene region than individuals with coeliac disease. Interleukin-2 and interleukin-21 are cytokine proteins secreted by white blood cells that control inflammation. It is likely that the protective DNA sequence leads to different amounts of these cytokin
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Contact: Alex Fernandes
a.fernandes@qmul.ac.uk
020-788-27910
Queen Mary, University of London
10-Jun-2007


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