News archive 2008
Gene research for Ulcerative Colitis28 Apr 2008, PR 76/08
Researchers at King’s College London have played a leading role in a study published in Nature Genetics today, which has established a series of genetic links between the inflammatory bowel diseases (IBD), Ulcerative Colitis and Crohn’s disease.
The research uncovered the new ulcerative colitis gene, ECM1, and further showed that five other genes, which were previously shown to be involved in Crohn's disease, also predispose to ulcerative colitis.
Professor Christopher Mathew, Dr Sheila Fisher, and colleagues from the UK Inflammatory Bowel Disease Consortium and the Sanger Institute carried out the scan, and found strong association of variants in the ECM1 gene, which encodes a protein that is part of the extracellular matrix and activates a key immune regulator, with ulcerative colitis.
Professor Mathew, Head of the Complex Disease Genetics Group at King’s comments: ‘This study reports the first comprehensive scan for genes that predispose to ulcerative colitis. The genetic similarities and differences between ulcerative colitis and Crohn’s disease provide a fascinating first glimpse into the molecular basis of the divergent pathology of these two chronic inflammatory disorders.’
Funded by the National Association for Colitis and Crohn’s disease (NACC), the study involved over 3,000 UK patients with ulcerative colitis and applied new technologies for human genome scanning. As such it is the most detailed investigation of ulcerative colitis genetics in the world literature.
Ulcerative Colitis (UC) affects up to 120,000 people in the UK, and between 6,000 and 12,000 new cases are diagnosed each year.
It affects the rectum and sometimes the colon (large intestine). Inflammation and many tiny ulcers develop on the inside lining of the colon resulting in urgent and bloody diarrhoea, pain and continual tiredness. The condition varies as to how much of the colon is affected. In addition, UC can cause inflammation in the eyes, skin and joints. If the inflammation is only in the rectum it is known as proctitis
Significant progress has been made in identifying genetic variants that point to susceptibility to Crohn’s disease, but this has been less true of ulcerative colitis, and the common genetic underpinnings of the two disorders are not well understood.
Since these are diseases of young people involving debilitating pain, embarrassing symptoms, a high risk of surgery and an increased risk of cancer, the researchers hope that these findings will translate directly to safe effective therapeutic strategies.
This study also lays the groundwork for a more complete assessment of the genetic architecture of ulcerative colitis which has recently been funded by the Wellcome Trust through the Case Control Consortium project.
Dr Sheila Fisher, Research Council UK Fellow at King’s explains: ‘These findings represent a major step forward in identification of the precise disease-causing variants in these genes which will facilitate the development of new targeted therapies in the treatment of these debilitating diseases.’
Notes to editors
National Association for Colitis and Crohn’s disease
NACC provides a valuable support network and information resource for people and families affected by colitis and Crohn’s disease as well as raising significant funds for research. The 70 local NACC Groups across the UK enable members to meet other people who have these illnesses and share information and experiences.
The NACC Information Line (daytime) is available to members and non-members alike who have queries about all aspects of their disease. The NACC-in-Contact Line (afternoons and evenings) offers people a chance to speak to a trained volunteer who has colitis or Crohn’s disease.
NACC in Contact Support Line: 0845 130 3344
Website: www.nacc.org.uk & email: firstname.lastname@example.org
King's College London
King's College London is one of the top 25 universities in the world (Times Higher 2007) and the fourth oldest in England. A research-led university based in the heart of London, King's has 19,300 students from more than 130 countries, and 5,000 employees. King's has an outstanding reputation for providing world-class teaching and cutting-edge research. The College is in the top group of UK universities for research earnings and has an annual income of approximately £400 million. An investment of £500 million has been made in the redevelopment of its estate.
King's has a particularly distinguished reputation in the humanities, law, social sciences, the health sciences, natural sciences and engineering, and has played a major role in many of the advances that have shaped modern life, such as the discovery of the structure of DNA. It is the largest centre for the education of healthcare professionals in Europe and is home to five Medical Research Council Centres – more than any other university.
Kate Moore, Public Relations Officer (Health Schools)
Public Relations Department, King's College London
Email: email@example.com Tel: 020 7848 4334
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