Ontology highlight
ABSTRACT:
SUBMITTER: Liu JZ
PROVIDER: S-EPMC3459817 | biostudies-literature | 2012 Oct
REPOSITORIES: biostudies-literature
Nature genetics 20120909 10
We genotyped 2,861 cases of primary biliary cirrhosis (PBC) from the UK PBC Consortium and 8,514 UK population controls across 196,524 variants within 186 known autoimmune risk loci. We identified 3 loci newly associated with PBC (at P<5×10(-8)), increasing the number of known susceptibility loci to 25. The most associated variant at 19p12 is a low-frequency nonsynonymous SNP in TYK2, further implicating JAK-STAT and cytokine signaling in disease pathogenesis. An additional five loci contained n ...[more]