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Scientists who last year identified a new genetic risk factor for coeliac disease, have, following continued research, discovered an additional seven gene regions implicated in causing the condition. The team, lead by David van Heel, Professor of Gastrointestinal Genetics at Barts and The London School of Medicine and Dentistry, have further demonstrated that of the nine coeliac gene regions now know, four of these are also predisposing factors for type 1 diabetes. Their research sheds light not only on the nature of coeliac disease, but on the common origins of both diseases. It is published online today (2 March 2008) in Nature Genetics.
Professor van Heel and his team, including collaborators from Ireland, the Netherlands, and the Wellcome Trust Sanger Institute, first performed a genome wide association study in coeliac disease. Genetic markers across the genome were compared in coeliac disease subjects versus healthy controls. They then assessed around 1,000 of the strongest markers in a further ~ 5,000 samples. Their results identified seven new risk regions, six of which harbour important genes critical in the control of immune responses, highlighting their significance in the development of the disease.
Coeliac disease is common in the West, afflicting around 1 per cent of the population. It is an immune-mediated disease, triggered by intolerance to gluten (a protein found in wheat, barley and rye containing foods), that prevents normal digestion and absorption of nutrients. If undetected it can lead to a number of often severe problems among them anaemia, poor bone health, fatigue and weight loss. Currently only a restricted diet can diminish symptoms.
Professor van Heel said: “So far our findings explain nearly half of the heritability of coeliac disease - now studies with many more samples from individuals with coeliac disease are needed to identify the precise causal genetic variants from each region, and understand how these influence biological processes.”
The research was funded by Coeliac UK and The Wellcome Trust. Coeliac disease case studies are available for interview from Coeliac UK upon request.
The paper, ‘Newly identified genetic risk variant for celiac disease related to the immune response’ is published online, on 2 March 2008, in Nature Genetics.
For case studies contact: Kate Newman Press Office Coeliac UK Tel: 020 8399 7478 Mobile: 07952 071014
Notes to editors:
Barts and The London School of Medicine and Dentistry offers international levels of excellence in research and teaching while serving a population of unrivalled diversity amongst which cases of diabetes, hypertension, heart disease, TB, oral disease and cancers are prevalent, within east London and the wider Thames Gateway. Through partnership with our linked trusts, notably Barts and The London NHS Trust, and our associated University Hospital trusts – Homerton, Newham, Whipps Cross and Queen’s – the School’s research and teaching is informed by an exceptionally wide ranging and stimulating clinical environment.
At the heart of the School’s mission lies world class research, the result of a focused programme of recruitment of leading research groups from the UK and abroad and a £100 million investment in state-of-the-art facilities. Research is focused on translational research, cancer, cardiology, clinical pharmacology, inflammation, infectious diseases, stem cells, dermatology, gastroenterology, haematology, diabetes, neuroscience, surgery and dentistry.
The School is nationally and internationally recognised for research in these areas, reflected in the £40 million it attracts annually in research income. Its fundamental mission, with its partner NHS Trusts, and other partner organisations such as CRUK, is to ensure that that the best possible clinical service is underpinned by the very latest developments in scientific and clinical teaching, training and research.
Websites www.coeliac.org.uk www.coeliac.co.uk/about_us/press_office/writing_about_coeliac_disease/118.asp http://www.wellcome.ac.uk http://www.icms.qmul.ac.uk/ http://www.icms.qmul.ac.uk/Profiles/Gastro/van%20Heel%20David.htm http://www.nature.com/ng/index.html