• International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

      Cordell, HJ; Han, Y; Mells, GF; Li, Y; Hirschfield, GM; Greene, CS; Xie, G; Juran, BD; Zhu, D; Qian, DC; et al. (Springer, 2015-09-22)
      Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets 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 4,261 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 signalling and cytokine-cytokine pathways, for which relevant therapies exist.