New research has identified four aspects of immune system disturbance which lead to the development of coeliac disease. Nearly 40 different inherited risk factors which predispose to the disease have now been identified. These latest findings could speed the way towards improved diagnostics and treatments for the autoimmune complaint that affects 1 in 100 of the population, and lead to insights into related conditions such as type 1 diabetes.
David van Heel, Professor of Gastrointestinal Genetics at Barts and The London School of Medicine and Dentistry has led an international team of researchers towards the discovery. Results of their research, funded by the Wellcome Trust, and supported by the patient charity Coeliac UK, are published online in Nature Genetics on Sunday 28 Feb 2010.
Professor van Heel, commenting on the latest findings said: "We can now shed light on some of the precise immune disturbances leading to coeliac disease. These include how T cells in the body react to toxic wheat proteins, how the thymus gland eliminates these T cells during infancy, and the body's response to viral infections. We now understand that many of these genetic risk factors work by altering the amounts of these immune system genes that cells make. The data also suggests that coeliac disease is made up of hundreds of genetic risk factors, we can have a good guess at nearly half of the genetic risk at present."
The study also shows that there is substantial evidence to indicate a shared risk between the gene associated with coeliac disease and many other common chronic immune mediated diseases. Previously Professor van Heel had identified an overlap between coeliac disease and type 1 diabetes risk regions, as well as coeliac disease and rheumatoid arthritis.
Coeliac disease is common in the West, affecting around one per cent of the population. It is an auto-immune disease triggered by an intolerance to gluten (a protein found in foods containing wheat, barley and rye) that prevents normal absorption of nutrients. If undetected it can lead to severe health problems including anaemia, poor bone health, fatigue and weight loss.
'Multiple common variants for coeliac disease influencing immune gene expression' is published online in Nature Genetics on 28 Feb 2010.
Coeliac disease case studies are available for interview from Coeliac UK upon request - contact:
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Notes to editors:
Barts and The London School of Medicine and Dentistry
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.