Genome-wide association studies in primary sclerosing cholangitis: still more questions than answers?
Chapman R.
Primary sclerosing cholangitis (PSC) is a chronic bile duct disease affecting 2.4-7.5% of individuals with inflammatory bowel disease. We performed a genome-wide association analysis of 2,466,182 SNPs in 715 individuals with PSC and 2962 controls,followed by replication in 1025 PSC cases and 2174 controls. We detected non-HLA associations at rs3197999 in MST1 and rs6720394 near BCL2L11 (combined P = 1.1 x (10(-16) and P = 4.1 x 10(-8) respectively).