Ontology highlight
ABSTRACT:
SUBMITTER: Ji SG
PROVIDER: S-EPMC5540332 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Nature genetics 20161219 2
Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; ∼75% of patients have comorbid inflammatory bowel disease (IBD). We undertook the largest genome-wide association study of PSC (4,796 cases and 19,955 population controls) and identified four new genome-wide significant loci. The most associated SNP at one locus affects splicing and expression of UBASH3A, with the protective allele (C) predicted to cause nonstop-mediated mRNA decay and lower exp ...[more]