Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery datasets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5×10−8) and used pathway analysis to identify JAK-STAT/IL12/IL27 signaling and cytokine-cytokine pathways, for which relevant therapies exist.
SOC is useful for the differential diagnosis of indeterminate biliary lesions and the treatment of 'difficult' biliary stones. The adequacy of SOC-guided biopsies is related to the number of specimens obtained. Primary sclerosing cholangitis is related to failed cannulation with the SOC system, whereas general anaesthesia is related to adequate visualization.
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