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

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Sue, Warner, Karen, Netherton, Kimberley, Mupudzi, McDonald, Gunson, Bridget, Gitahi, Jane, Gocher, Denise, Batham, Sally, Pateman, Hilary, Desmennu, Senayon, Conder, Jill, Clement, Darren, Gallagher, Susan, Orpe, Jacky, Chan, Puiching, Currie, Lynn, O'Donohoe, Lynn, Oblak, Metod, Morgan, Lisa, Quinn, Marie, Amey, Isobel, Baird, Yolanda, Cotterill, Donna, Cumlat, Lourdes, Winter, Louise, Greer, Sandra, Spurdle, Katie, Allison, Joanna, Dyer, Simon, Sweeting, Helen and Kordula, Jean (2015) International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. Nature Communications, 6. ISSN 2041-1723

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Abstract

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.

Item Type:	Article
Additional Information:	Publisher Copyright: © 2015 Macmillan Publishers Limited. All rights reserved.
Uncontrolled Keywords:	general chemistry,general biochemistry,genetics and molecular biology,general,general physics and astronomy ,/dk/atira/pure/subjectarea/asjc/1600/1600
Faculty \ School:	Faculty of Medicine and Health Sciences > Norwich Medical School
Related URLs:	https://www.scopus.com/pages/publication...
Depositing User:	LivePure Connector
Date Deposited:	30 Jun 2026 13:50
Last Modified:	30 Jun 2026 14:25
URI:	https://ueaeprints.uea.ac.uk/id/eprint/103556
DOI:	10.1038/ncomms9019

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