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

Author

Listed:
  • 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
    William Harvey Research Institute, Queen Mary University of London)

  • Katherine I. Morley

    (Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
    Institute of Psychiatry, Psychology & Neuroscience, Kings College London)

  • 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
    Istituto di Tecnologie Biomediche Consiglio Nazionale delle Ricerche)

  • 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
    University of California – Davis)

  • 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
    University of Toronto
    University of Toronto
    University of Toronto)

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

Suggested Citation

  • 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. Mor, 2015. "International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways," Nature Communications, Nature, vol. 6(1), pages 1-11, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms9019
    DOI: 10.1038/ncomms9019
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    Cited by:

    1. Chachrit Khunsriraksakul & Qinmengge Li & Havell Markus & Matthew T. Patrick & Renan Sauteraud & Daniel McGuire & Xingyan Wang & Chen Wang & Lida Wang & Siyuan Chen & Ganesh Shenoy & Bingshan Li & Xue, 2023. "Multi-ancestry and multi-trait genome-wide association meta-analyses inform clinical risk prediction for systemic lupus erythematosus," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    2. Elizabeth C. Goode & Laura Fachal & Nikolaos Panousis & Loukas Moutsianas & Rebecca E. McIntyre & Benjamin Yu Hang Bai & Norihito Kawasaki & Alexandra Wittmann & Tim Raine & Simon M. Rushbrook & Carl , 2024. "Fine-mapping and molecular characterisation of primary sclerosing cholangitis genetic risk loci," Nature Communications, Nature, vol. 15(1), pages 1-14, December.
    3. James J. Gilchrist & Seiko Makino & Vivek Naranbhai & Piyush K. Sharma & Surya Koturan & Orion Tong & Chelsea A. Taylor & Robert A. Watson & Alba Verge los Aires & Rosalin Cooper & Evelyn Lau & Sara D, 2022. "Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity," Nature Communications, Nature, vol. 13(1), pages 1-13, December.

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