Role of polymorphisms in genes involved in bile acid detoxification pathways in primary sclerosing cholangitis

摘要

Primary sclerosing cholangitis (PSC) is a chronic inflammatory disease of the intrahepatic and extrahepatic bile ducts, characterized by progressive bile duct strictures and eventually liver cirrhosis1. Approximately 80% of PSC patients in northern Europe have inflammatory bowel disease (IBD)2, and several characteristic features (rectal sparing, high frequency of pancolitis and 'backwash' ileitis) indicate that IBD in PSC represents a distinct IBD phenotype3'4. There is also an increased frequency of autoimmune diseases among patients with PSC5, in particular type I diabetes and autoimmune thyroid disease. Up to two-thirds of the PSC patients are male6, in contrast to the female predominance of autoimmunity in general7. Approximately 13% of the patients develop cholangiocarcinoma, and there is also an increased risk of colonic and pancreatic malignancies.