Norwegian PSC Research Center, Division of Cancer, Surgery and Transplantation, Oslo University Hospital Rikshospitalet, 0027 Oslo, Norway.
Clin Res Hepatol Gastroenterol. 2012 Aug;36(4):325-33. doi: 10.1016/j.clinre.2012.02.003. Epub 2012 May 1.
Primary sclerosing cholangitis (PSC) is a chronic cholestatic disorder with a progressive course. PSC is strongly associated with inflammatory bowel disease and is often complicated by cholangiocarcinoma development. Etiology and pathogenesis remain obscure, but the diverse clinical manifestation of the disease might, to some extent, indicate different genetic susceptibility in subgroups of patients. In recent years, genome-wide association studies performed in PSC have identified a number of genetic susceptibility loci. In this mini-review, we suggest that the genetic associations established can be grouped according to four pathogenic aspects relating to inflammation, cholangiocyte function, fibrosis and carcinogenesis. Subclassification of PSC patients according to their genetic predisposition could be a valuable tool in future functional and clinical studies.
原发性硬化性胆管炎（PSC）是一种具有进行性病程的慢性胆汁淤积性疾病。PSC 与炎症性肠病密切相关，常并发胆管癌。其病因和发病机制仍不清楚，但该病的多种临床表现在某种程度上可能表明患者亚群存在不同的遗传易感性。近年来，PSC 的全基因组关联研究确定了多个遗传易感性位点。在这篇简评中，我们提出，所建立的遗传相关性可以根据与炎症、胆管细胞功能、纤维化和癌变相关的四个发病机制方面进行分组。根据遗传易感性对 PSC 患者进行分类可能是未来功能和临床研究的有用工具。
