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Primary Biliary Cirrhosis

Dr Richard Sandford

George Mells, Heather Cordell, David EJ Jones, James Neuberger, Graeme JM Alexander, Michael Heneghan, Peter T Donaldson.

Primary biliary cirrhosis (PBC) is a chronic liver disease that affects over 1 in 5000 people in the UK. It usually affects middle-aged or older women. There is no known cure and many patients eventually develop cirrhosis and liver failure, for which the only treatment is liver transplantation. PBC is thought to be a complex disease, meaning that it is caused by a combination of genetic and environmental factors. There is good evidence that genetic factors are important. For example, relatives of a person with PBC are more likely to develop PBC than people in the general population. Large-scale genetic studies are required to identify the genes involved in causing PBC. These genetic studies called genome-wide association studies (GWAS) require DNA samples from at least 2000 individuals. Via the UK PBC Consortium these samples have been collected and will be used in collaboration with The Wellcome Trust to identify genetic variants associated and potentially causal for PBC. This will form the basis of future clinical and drug studies in PBC patients.