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Nature Research, Nature Communications, 1(6), 2015

DOI: 10.1038/ncomms9019

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

Journal article published in 2015 by Mariza de Andrade, Heather J. Cordell, Pbc Genetics Study Group Italian, George F. Mells, Yafang Li, Gideon M. Hirschfield, Schlicht Em, Casey S. Greene ORCID, Atkinson Ej, Brian D. Juran, Younghun Han, David C. Qian, Chan Ll, James A. B. Floyd, Mason Al and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AbstractPrimary 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.