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Consortium finds chronic liver cirrhosis clues
Date:3/13/2011

entify biological pathways that appear to underpin the disease, thus prioritising these for future research and highlighting their potential for therapeutic intervention."

"This study is a key first step in our efforts to unravel the biological complexity of primary biliary cirrhosis and further research building on these results is already underway."

The team found that many of the 15 new regions contain genes involved in regulation of the immune system, with three immune pathways particularly prominent. One of these, called the NF-кB pathway, had not previously been associated with primary biliary cirrhosis although it had been implicated in other autoimmune and inflammatory diseases such as rheumatoid arthritis, multiple sclerosis and asthma. In total, five of the identified genomic regions are thought to play a role in this pathway and further work is being planned to elucidate how genetic mutations in these regions cause primary biliary cirrhosis and other related diseases.

"For clinicians involved in the management of primary biliary cirrhosis, this study is exciting because it provides new and meaningful insight into the biological origins of this condition," says Dr George Mells, from the Academic Department of Medical Genetics at the University of Cambridge and a first author on the study. "This will undoubtedly inform the development of more effective treatments, designed to target the biological pathways involved in causing the disease. The study is also a triumph of collaboration. Every NHS Trust in the UK was involved in recruitment of patients and the patient community itself was mobilised by efforts from the PBC Foundation.

"By working together, we have recruited almost one in six primary biliary cirrhosis patients in the UK; completed the largest genome-wide association study of primary biliary cirrhosis to date and established a research consortium that will form the foundation of further clinical, genetic a
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Contact: Don Powell
press.office@sanger.ac.uk
44-012-234-96928
Wellcome Trust Sanger Institute
Source:Eurekalert

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