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Open Access
Peer-reviewed
Research Article
Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis
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Mélissa Beaudoin ,
Contributed equally to this work with: Mélissa Beaudoin, Philippe Goyette
Affiliation Montreal Heart Institute, Research Center, Montreal, Quebec, Canada
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Philippe Goyette ,
Contributed equally to this work with: Mélissa Beaudoin, Philippe Goyette
Affiliation Montreal Heart Institute, Research Center, Montreal, Quebec, Canada
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Gabrielle Boucher,
Affiliation Montreal Heart Institute, Research Center, Montreal, Quebec, Canada
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Ken Sin Lo,
Affiliation Montreal Heart Institute, Research Center, Montreal, Quebec, Canada
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Manuel A. Rivas,
Affiliation Center for the Study of IBD (CSIBD) Genetics, The Broad Institute, Cambridge, Massachusetts, United States of America
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Christine Stevens,
Affiliation Center for the Study of IBD (CSIBD) Genetics, The Broad Institute, Cambridge, Massachusetts, United States of America
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Azadeh Alikashani,
Affiliation Montreal Heart Institute, Research Center, Montreal, Quebec, Canada
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Martin Ladouceur,
Affiliation Montreal Heart Institute, Research Center, Montreal, Quebec, Canada
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David Ellinghaus,
Affiliation Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
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Leif Törkvist,
Affiliation Department of Clinical Science Intervention and Technology, Karolinska Institutet, Stockholm, Sweden
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Gautam Goel,
Affiliation Center for Computational and Integrative Biology and Gastrointestinal Unit, Massachusetts General Hospital, Harvard School of Medicine, Boston, Massachusetts, United States of America
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Caroline Lagacé,
Affiliation Montreal Heart Institute, Research Center, Montreal, Quebec, Canada
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Vito Annese,
Affiliations Unit of Gastroenterology, Istituto di Ricovero e Cura a Carattere Scientifico-Casa Sollievo della Sofferenza (IRCCS-CSS) Hospital, San Giovanni Rotondo, Italy, Azienda Ospedaliero Universitaria (AOU) Careggi, Unit of Gastroenterology SOD2, Florence, Italy
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Alain Bitton,
Affiliation Division of Gastroenterology, McGill University Health Centre, Royal Victoria Hospital, Montréal, Québec, Canada
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Jakob Begun,
Affiliation Center for Computational and Integrative Biology and Gastrointestinal Unit, Massachusetts General Hospital, Harvard School of Medicine, Boston, Massachusetts, United States of America
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Steve R. Brant,
Affiliation Meyerhoff Inflammatory Bowel Diseases Center, Department of Medicine, Johns Hopkins University School of Medicine, and Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, United States of America
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Francesca Bresso,
Affiliation Department of Medicine of the Karolinska University Hospital, Solna, Sweden
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Judy H. Cho,
Affiliation Departments of Medicine and Genetics, Yale University, New Haven, Connecticut, United States of America
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Richard H. Duerr,
Affiliation Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh School of Medicine, and Department of Human Genetics, University of Pittsburgh, Graduate School of Public Health, Pittsburgh, Pennsylvania, United States of America
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Jonas Halfvarson,
Affiliation Department of Internal Medicine, Division of Gastroenterology, Örebro University Hospital and School of Health and Medical Sciences, Örebro University, Örebro, Sweden
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Dermot P. B. McGovern,
Affiliation Cedars-Sinai F.Widjaja Inflammatory Bowel and Immunobiology Research Institute, and Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America
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Graham Radford-Smith,
Affiliation Inflammatory Bowel Diseases, Genetic and Computational Biology, Queensland Institute of Medical Research, and Department of Gastroenterology, Royal Brisbane and Womens Hospital, and School of Medicine, University of Queensland, Brisbane, Australia
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Stefan Schreiber,
Affiliations Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany, Department for General Internal Medicine, Christian-Albrechts-University, Kiel, Germany
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Philip L. Schumm,
Affiliation Department of Health Studies, University of Chicago, Chicago, Illinois, United States of America
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Yashoda Sharma,
Affiliation Departments of Medicine and Genetics, Yale University, New Haven, Connecticut, United States of America
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Mark S. Silverberg,
Affiliation Mount Sinai Hospital Inflammatory Bowel Disease Centre, University of Toronto, Toronto, Ontario, Canada
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Rinse K. Weersma,
Affiliation Department of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands
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Quebec IBD Genetics Consortium ,
¶A complete list of consortium members can be found following the Acknowledgments section.
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NIDDK IBD Genetics Consortium ,
¶A complete list of consortium members can be found following the Acknowledgments section.
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International IBD Genetics Consortium ,
¶A complete list of consortium members can be found following the Acknowledgments section.
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Mauro D'Amato,
Affiliation Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden
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Severine Vermeire,
Affiliation Division of Gastroenterology, University Hospital Gasthuisberg, Leuven, Belgium
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Andre Franke,
Affiliation Department for General Internal Medicine, Christian-Albrechts-University, Kiel, Germany
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Guillaume Lettre,
Affiliations Montreal Heart Institute, Research Center, Montreal, Quebec, Canada, Université de Montréal, Faculté de Médecine, Montréal, Québec, Canada
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Ramnik J. Xavier,
Affiliations Center for Computational and Integrative Biology and Gastrointestinal Unit, Massachusetts General Hospital, Harvard School of Medicine, Boston, Massachusetts, United States of America, Broad Institute of MIT and Harvard University, Cambridge, Massachusetts, United States of America
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Mark J. Daly,
Affiliation Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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John D. Rioux
* E-mail: john.david.rioux@umontreal.ca
Affiliations Montreal Heart Institute, Research Center, Montreal, Quebec, Canada, Université de Montréal, Faculté de Médecine, Montréal, Québec, Canada
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Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis
- Mélissa Beaudoin,
- Philippe Goyette,
- Gabrielle Boucher,
- Ken Sin Lo,
- Manuel A. Rivas,
- Christine Stevens,
- Azadeh Alikashani,
- Martin Ladouceur,
- David Ellinghaus,
- Leif Törkvist
- Published: September 12, 2013
- https://doi.org/10.1371/journal.pgen.1003723