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Primary sclerosing cholangitis (PSC) is a chronic inflammatory condition of the medium-to-large ducts of the liver. About 50% to 80% of PSC patients have concomitant inflammatory bowel disease (IBD), most often ulcerative colitis (UC). Genetic risk factors, including variants in human leukocyte antigen (HLA) genes, are thought to play a role in the etiology of PSC.
In a genome-wide analysis, investigators genotyped 443,816 single nucleotide polymorphisms in 285 clinically characterized PSC patients and 298 healthy controls from northern Europe. Findings were validated independently in 766 PSC patients and 2935 controls.
Within the HLA complex, the strongest genetic associations with PSC were detected near HLA-B at chromosome 6p21. Outside the…