Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis

Abstract

We present a large international PSC cohort, and report genetic loci associated with PSC disease progression. For liver transplant-free survival, we identified a genome-wide significant signal and demonstrated expression of the candidate gene <i>RSPO3</i> in key liver-resident effector cells. This warrants further assessments of the role of this potential key PSC modifier gene.