A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

Autor: Rivas MA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA., Graham D; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Sulem P; deCODE Genetics, Amgen Inc., 101 Reykjavik, Iceland., Stevens C; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Desch AN; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA., Goyette P; Research Center, Montreal Heart Institute, Montréal, Québec, Canada H1T1C8., Gudbjartsson D; deCODE Genetics, Amgen Inc., 101 Reykjavik, Iceland.; School of Engineering and Natural Sciences, University of Iceland, 101 Reykjavik, Iceland., Jonsdottir I; deCODE Genetics, Amgen Inc., 101 Reykjavik, Iceland.; Department of Immunology, Landspitali, the National University Hospital of Iceland, 101 Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland., Thorsteinsdottir U; deCODE Genetics, Amgen Inc., 101 Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland., Degenhardt F; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, 24118 Kiel, Germany., Mucha S; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, 24118 Kiel, Germany., Kurki MI; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA., Li D; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, California 90048 USA., D'Amato M; Department of Biosciences and Nutrition, Karolinska Institutet, 14183 Stockholm, Sweden.; BioCruces Health Research Institute and IKERBASQUE, Basque Foundation for Science, 48903 Bilbao, Spain., Annese V; Unit of Gastroenterology, Istituto di Ricovero e Cura a Carattere Scientifico-Casa Sollievo della Sofferenza (IRCCS-CSS) Hospital, 71013 San Giovanni Rotondo, Italy.; Strutture Organizzative Dipartimentali (SOD) Gastroenterologia 2, Azienda Ospedaliero Universitaria (AOU) Careggi, 50134 Florence, Italy., Vermeire S; Department of Clinical and Experimental Medicine, Translational Research in GastroIntestinal Disorders (TARGID), Katholieke Universiteit (KU) Leuven, Leuven 3000, Belgium.; Division of Gastroenterology, University Hospital Gasthuisberg, BE-3000 Leuven, Belgium., Weersma RK; Department of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, 9713 GZ Groningen, The Netherlands., Halfvarson J; Department of Gastroenterology, Faculty of Medicine and Health, Örebro University, SE 701 82 Örebro, Sweden., Paavola-Sakki P; Department of Medicine, University of Helsinki, 00100 Helsinki, Finland.; Helsinki University Hospital, 00100 Helsinki, Finland.; Clinic of Gastroenterology, Helsinki University Hospital, 00100 Helsinki, Finland., Lappalainen M; Department of Medicine, University of Helsinki, 00100 Helsinki, Finland.; Helsinki University Hospital, 00100 Helsinki, Finland.; Research Programs Unit, Immunobiology, and Department of Medical and Clinical Genetics, University of Helsinki, 00014 Helsinki, Finland., Lek M; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA., Cummings B; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA., Tukiainen T; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA., Haritunians T; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, California 90048 USA., Halme L; Department of Transplantation and Liver Surgery, University of Helsinki, 00100 Helsinki, Finland., Koskinen LL; Research Programs Unit, Immunobiology, and Department of Medical and Clinical Genetics, University of Helsinki, 00014 Helsinki, Finland.; Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, 00100 Helsinki, Finland., Ananthakrishnan AN; Gastroenterology Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.; Division of Medical Sciences, Harvard Medical School, Boston, Massachusetts 02114, USA., Luo Y; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK., Heap GA; IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter EX2 5DW, UK., Visschedijk MC; Department of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen, 9713 GZ Groningen, The Netherlands., MacArthur DG; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA., Neale BM; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA., Ahmad T; Peninsula College of Medicine and Dentistry, Exeter PL6 8BU, UK., Anderson CA; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK., Brant SR; Meyerhoff Inflammatory Bowel Disease Center, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland, 21205, USA.; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, 21205, USA., Duerr RH; Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA.; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania 15261, USA., Silverberg MS; Department of Medicine, Inflammatory Bowel Disease Centre, Mount Sinai Hospital, Toronto, Ontario, Canada M5G 1X5., Cho JH; Department of Genetics, Yale School of Medicine, New Haven, Connecticut 06510, USA., Palotie A; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA.; Institute for Molecular Medicine Finland, University of Helsinki, 00100 Helsinki, Finland.; Massachusetts General Hospital, Center for Human Genetic Research, Psychiatric and Neurodevelopmental Genetics Unit, Boston, Massachusetts 02114, USA., Saavalainen P; Research Programs Unit, Immunobiology, University of Helsinki, 00100 Helsinki, Finland., Kontula K; Department of Medicine, University of Helsinki, 00100 Helsinki, Finland.; Helsinki University Hospital, 00100 Helsinki, Finland., Färkkilä M; Department of Medicine, University of Helsinki, 00100 Helsinki, Finland.; Helsinki University Hospital, 00100 Helsinki, Finland.; Clinic of Gastroenterology, Helsinki University Hospital, 00100 Helsinki, Finland., McGovern DP; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, California 90048 USA., Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, 24118 Kiel, Germany., Stefansson K; deCODE Genetics, Amgen Inc., 101 Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland., Rioux JD; Research Center, Montreal Heart Institute, Montréal, Québec, Canada H1T1C8.; Faculté de Médecine, Université de Montréal, Montréal, Québec, Canada H3T 1J4., Xavier RJ; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Gastroenterology Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA., Daly MJ; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA., Barrett J; IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter EX2 5DW, UK., de Lane K; IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter EX2 5DW, UK., Edwards C; Department of Gastroenterology, Torbay Hospital, Devon, UK., Hart A; Department of Medicine, St. Mark's Hospital, Middlesex, UK., Hawkey C; Nottingham Digestive Disease Centre, Queens Medical Centre, Nottingham, UK., Jostins L; Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, UK.; Christ Church, University of Oxford, Oxford, UK., Kennedy N; Gastrointestinal Unit, Wester General Hospital, University of Edinburgh, Edinburgh, UK., Lamb C; Newcastle University, Newcastle upon Tyne, UK., Lee J; Inflammatory Bowel Disease Research Group, Addenbrooke's Hospital, Cambridge, UK., Lees C; Gastrointestinal Unit, Wester General Hospital, University of Edinburgh, Edinburgh, UK., Mansfield J; Newcastle University, Newcastle upon Tyne, UK., Mathew C; Department of Medical and Molecular Genetics, Guy's Hospital, London, UK.; Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, UK., Mowatt C; Department of Medicine, Ninewells Hospital and Medical School, Dundee, UK., Newman B; Genetic Medicine, Manchester Academic Health Science Centre, Manchester, UK.; The Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK., Nimmo E; Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, UK., Parkes M; Inflammatory Bowel Disease Research Group, Addenbrooke's Hospital, Cambridge, UK., Pollard M; IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter EX2 5DW, UK., Prescott N; Department of Medical and Molecular Genetics, Guy's Hospital, London, UK.; Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, UK., Randall J; IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter EX2 5DW, UK., Rice D; IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter EX2 5DW, UK., Satsangi J; Centre for Genomic and Experimental Medicine, University of Edinburgh, Edinburgh, UK., Simmons A; Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, Oxford, UK.; Human Immunology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Tremelling M; Gastroenterology &General Medicine, Norfolk and Norwich University Hospital, Norwich, UK., Uhlig H; Translational Gastroenterology Unit and the Department of Pediatrics, University of Oxford, Oxford, UK., Wilson D; Pediatric Gastroenterology and Nutrition, Royal Hospital for Sick Children, Edinburgh, UK.; Child Life and Health, University of Edinburgh, Edinburgh, UK., Abraham C; Section of Digestive Diseases, Department of Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA., Achkar JP; Department of Gastroenterology and Hepatology, Digestive Disease Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Department of Pathobiology, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, USA., Bitton A; Division of Gastroenterology, Royal Victoria Hospital, Montréal, Québec, Canada., Boucher G; Research Center, Montreal Heart Institute, Montréal, Québec, Canada H1T1C8., Croitoru K; Inflammatory Bowel Disease Group, Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Fleshner P; Department of Transplantation and Liver Surgery, University of Helsinki, 00100 Helsinki, Finland., Glas J; Division of Gastroenterology, Royal Victoria Hospital, Montréal, Québec, Canada., Kugathasan S; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA., Limbergen JV; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada., Milgrom R; Department of Genetics, Yale School of Medicine, New Haven, Connecticut 06510, USA., Proctor D; Section of Digestive Diseases, Department of Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA., Regueiro M; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania 15261, USA., Schumm PL; Department of Public Health Sciences, University of Chicago, Chicago, Illinois, USA., Sharma Y; Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Stempak JM; Department of Genetics, Yale School of Medicine, New Haven, Connecticut 06510, USA., Targan SR; Department of Transplantation and Liver Surgery, University of Helsinki, 00100 Helsinki, Finland., Wang MH; Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA.

Publikováno v: Nature communications [Nat Commun] 2016 Aug 09; Vol. 7, pp. 12342. Date of Electronic Publication: 2016 Aug 09.