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  • Rivas, Manuel A.Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA (author)

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

  • Article/chapterEnglish2016

Publisher, publication year, extent ...

  • 2016-08-09
  • London, United Kingdom :Nature Publishing Group,2016
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:oru-51667
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-51667URI
  • https://doi.org/10.1038/ncomms12342DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:134031768URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Funding Agencies:National Institute of Diabetes and Digestive and Kidney Disease (NIDDK) DK064869  DK062432National Human Genome Research Institute (NHGRI) DK064869  DK043351  HG005923Crohns and Colitis Foundation 3765Leona M. & Harry B. Helmsley Charitable Trust 2015PG-IBD001Amgen 2013583217CCFA 3765Cedars-Sinai F. Widjaja FoundationEuropean Union DK062413  AI067068  U54DE023789-01  305479Leona M. and Harry B. Helmsley Charitable TrustCrohn's and Colitis Foundation of AmericaNIH DK062431  U01 DK062429  U01 DK062422  R01 DK092235  U01 DK062420Medical Research Council, UK MR/J00314X/1Wellcome Trust WT091310  098051Inflammatory Bowel Disease Genetic Research Chair at the University of Pittsburgh PO1DK046763
  • Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients and 295,446 controls, MAF=up to 0.78%) in RNF186, a single-exon ring finger E3 ligase with strong colonic expression, protects against ulcerative colitis (overall P=6.89 × 10(-7), odds ratio=0.30). We further demonstrate that the truncated protein exhibits reduced expression and altered subcellular localization, suggesting the protective mechanism may reside in the loss of an interaction or function via mislocalization and/or loss of an essential transmembrane domain.

Subject headings and genre

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  • Graham, DanielBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; (author)
  • Sulem, PatrickdeCODE Genetics, Amgen Inc., Reykjavik, Iceland (author)
  • Stevens, ChristineBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; (author)
  • Desch, A. NicoleBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; (author)
  • Goyette, PhilippeResearch Center, Montreal Heart Institute, Montréal, Québec, Canada (author)
  • Gudbjartsson, DanieldeCODE Genetics, Amgen Inc., Reykjavik, Iceland; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland (author)
  • Jonsdottir, IngileifdeCODE Genetics, Amgen Inc., Reykjavik, Iceland; Department of Immunology, Landspitali, the National University Hospital of Iceland, Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland (author)
  • Thorsteinsdottir, UnnurdeCODE Genetics, Amgen Inc., Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland (author)
  • Degenhardt, FraukeInstitute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany (author)
  • Mucha, SörenInstitute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany (author)
  • Kurki, Mitja I.Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA (author)
  • Li, DalinF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, USA; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, USA (author)
  • D'Amato, MauroKarolinska Institutet (author)
  • Annese, VitoUnit of Gastroenterology, Istituto di Ricovero e Cura a Carattere Scientifico-Casa Sollievo della Sofferenza (IRCCS-CSS) Hospital, San Giovanni Rotondo, Italy (author)
  • Vermeire, SeverineDepartment of Clinical and Experimental Medicine, Translational Research in GastroIntestinal Disorders (TARGID), Katholieke Universiteit (KU) Leuven, Leuven, Belgium; Division of Gastroenterology, University Hospital Gasthuisberg, Leuven, Belgium (author)
  • Weersma, Rinse K.Department of Gastroenterology and Hepatology, University Medical Center Groningen, Groningen, The Netherlands; Department of Gastroenterology and Hepatology, University of Groningen, Groningen, The Netherlands (author)
  • Halfvarson, Jonas,1970-Örebro universitet,Institutionen för medicinska vetenskaper,Department of Gastroenterology, Örebro University Hospital, Örebro, Sweden(Swepub:oru)jshn (author)
  • Paavola-Sakki, PaulinaDepartment of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland; Clinic of Gastroenterology, Helsinki University Hospital, Helsinki, Finland (author)
  • Lappalainen, MaaritDepartment of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland; Research Programs Unit, Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland; Research Programs Unit, Immunobiology, University of Helsinki, Helsinki, Finland; (author)
  • Lek, MonkolBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA (author)
  • Cummings, BerylBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA (author)
  • Tukiainen, TaruBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA (author)
  • Haritunians, TalinF. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, USA; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, USA (author)
  • Halme, LeenaDepartment of Transplantation and Liver Surgery, University of Helsinki, Helsinki, Finland (author)
  • Koskinen, Lotta L. E.Research Programs Unit, Immunobiology, and Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland; Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland (author)
  • Ananthakrishnan, Ashwin N.Gastroenterology Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA; Division of Medical Sciences, Harvard Medical School, Boston, USA (author)
  • Luo, YangWellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Hinxton, UK (author)
  • Heap, Graham A.IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter, UK (author)
  • Visschedijk, Marijn C.Department of Gastroenterology and Hepatology, University of Groningen, Groningen, The Netherlands; Department of Gastroenterology and Hepatology, University Medical Center Groningen, Groningen, The Netherlands (author)
  • MacArthur, Daniel G.Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA (author)
  • Neale, Benjamin M.Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA (author)
  • Ahmad, TariqPeninsula College of Medicine and Dentistry, Exeter, UK (author)
  • Anderson, Carl A.Wellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Hinxton, UK (author)
  • Brant, Steven R.Meyerhoff Inflammatory Bowel Disease Center, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, USA; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, USA (author)
  • Duerr, Richard H.Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, Pittsburgh,USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, USA (author)
  • Silverberg, Mark S.Department of Medicine, Inflammatory Bowel Disease Centre, Mount Sinai Hospital, Toronto, Canada (author)
  • Cho, Judy H.Department of Genetics, Yale School of Medicine, New Haven, USA (author)
  • Palotie, AarnoBroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston MA, USA; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Center for Human Genetic Research, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston MA, USA (author)
  • Saavalainen, PäiviResearch Programs Unit, Immunobiology, University of Helsinki, Helsinki, Finland (author)
  • Kontula, KimmoDepartment of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland (author)
  • Färkkilä, MarttiDepartment of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland; Clinic of Gastroenterology, Helsinki University Hospital, Helsinki, Finland (author)
  • McGovern, Dermot P. B.F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, USA; Inflammatory Bowel Disease Center, Cedars-Sinai Medical Center, Los Angeles, USA (author)
  • Franke, AndreInstitute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany (author)
  • Stefansson, KarideCODE Genetics, Amgen Inc., Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland (author)
  • Rioux, John D.Research Center, Montreal Heart Institute, Montréal, Canada; Faculté de Médecine, Université de Montréal, Montréal, Canada (author)
  • Xavier, Ramnik J.Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Gastroenterology Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA (author)
  • Daly, Mark J.Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA (author)
  • Barrett, J.IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter, UK (author)
  • de Lane, K.IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter, UK (author)
  • Wang, M. H.Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, USA (author)
  • Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USABroad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA; (creator_code:org_t)

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  • In:Nature CommunicationsLondon, United Kingdom : Nature Publishing Group72041-1723

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