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

Heather J. Cordell (), Younghun Han, George F. Mells, Yafang Li, Gideon M. Hirschfield, Casey S. Greene, Gang Xie, Brian D. Juran, Dakai Zhu, David C. Qian, James A. B. Floyd, Katherine I. Morley, Daniele Prati, Ana Lleo, Daniele Cusi, M. Eric Gershwin, Carl A. Anderson, Konstantinos N. Lazaridis, Pietro Invernizzi, Michael F. Seldin, Richard N. Sandford, Christopher I. Amos and Katherine A. Siminovitch ()
Additional contact information
Heather J. Cordell: Institute of Genetic Medicine, Newcastle University
Younghun Han: Center for Genomic Medicine, Geisel School of Medicine, Dartmouth College
George F. Mells: Cambridge University
Yafang Li: Center for Genomic Medicine, Geisel School of Medicine, Dartmouth College
Gideon M. Hirschfield: Centre for Liver Research and NIHR Biomedical Research Unit, University of Birmingham
Casey S. Greene: Institute for Quantitative Biomedical Sciences, Geisel School of Medicine, Dartmouth College
Gang Xie: Mount Sinai Hospital, Lunenfeld-Tanenbaum Research Institute and Toronto General Research Institute
Brian D. Juran: Center for Basic Research in Digestive Diseases, Mayo Clinic
Dakai Zhu: Center for Genomic Medicine, Geisel School of Medicine, Dartmouth College
David C. Qian: Center for Genomic Medicine, Geisel School of Medicine, Dartmouth College
James A. B. Floyd: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
Katherine I. Morley: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
Daniele Prati: Department of Transfusion Medicine and Hematology
Ana Lleo: Center for Autoimmune Liver Diseases, IRCCS Instituto Clinico Humanitas
Daniele Cusi: Università degli Studi di Milano
M. Eric Gershwin: University of California – Davis
Carl A. Anderson: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
Konstantinos N. Lazaridis: Center for Basic Research in Digestive Diseases, Mayo Clinic
Pietro Invernizzi: Center for Autoimmune Liver Diseases, IRCCS Instituto Clinico Humanitas
Michael F. Seldin: University of California – Davis
Richard N. Sandford: Cambridge University
Christopher I. Amos: Center for Genomic Medicine, Geisel School of Medicine, Dartmouth College
Katherine A. Siminovitch: Mount Sinai Hospital, Lunenfeld-Tanenbaum Research Institute and Toronto General Research Institute

Nature Communications, 2015, vol. 6, issue 1, 1-11

Abstract: 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

Date: 2015
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DOI: 10.1038/ncomms9019

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