Sökning: WFRF:(McGovern Dermot P. B.) >
A protein-truncatin...
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
-
- Rivas, Manuel A. (författare)
- 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
-
- Graham, Daniel (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA;
-
- Sulem, Patrick (författare)
- deCODE Genetics, Amgen Inc., Reykjavik, Iceland
-
visa fler...
-
- Stevens, Christine (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA;
-
- Desch, A. Nicole (författare)
- Broad Institute, Massachusetts Institute of Technology, Cambridge MA, USA; Broad Institute, Harvard University, Cambridge MA, USA;
-
- Goyette, Philippe (författare)
- Research Center, Montreal Heart Institute, Montréal, Québec, Canada
-
- Gudbjartsson, Daniel (författare)
- deCODE Genetics, Amgen Inc., Reykjavik, Iceland; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland
-
- Jonsdottir, Ingileif (författare)
- deCODE 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
-
- Thorsteinsdottir, Unnur (författare)
- deCODE Genetics, Amgen Inc., Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland
-
- Degenhardt, Frauke (författare)
- Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
-
- Mucha, Sören (författare)
- Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
-
- Kurki, Mitja I. (författare)
- 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
-
- Li, Dalin (författare)
- 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
-
- D'Amato, Mauro (författare)
- Karolinska Institutet
-
- Annese, Vito (författare)
- Unit of Gastroenterology, Istituto di Ricovero e Cura a Carattere Scientifico-Casa Sollievo della Sofferenza (IRCCS-CSS) Hospital, San Giovanni Rotondo, Italy
-
- Vermeire, Severine (författare)
- Department 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
-
- Weersma, Rinse K. (författare)
- Department of Gastroenterology and Hepatology, University Medical Center Groningen, Groningen, The Netherlands; Department of Gastroenterology and Hepatology, University of Groningen, Groningen, The Netherlands
-
- Halfvarson, Jonas, 1970- (författare)
- Örebro universitet,Institutionen för medicinska vetenskaper,Department of Gastroenterology, Örebro University Hospital, Örebro, Sweden
-
- Paavola-Sakki, Paulina (författare)
- Department of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland; Clinic of Gastroenterology, Helsinki University Hospital, Helsinki, Finland
-
- Lappalainen, Maarit (författare)
- Department 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;
-
- Lek, Monkol (författare)
- 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
-
- Cummings, Beryl (författare)
- 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
-
- Tukiainen, Taru (författare)
- 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
-
- Haritunians, Talin (författare)
- 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
-
- Halme, Leena (författare)
- Department of Transplantation and Liver Surgery, University of Helsinki, Helsinki, Finland
-
- Koskinen, Lotta L. E. (författare)
- 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
-
- Ananthakrishnan, Ashwin N. (författare)
- Gastroenterology Unit, Massachusetts General Hospital, Harvard Medical School, Boston, USA; Division of Medical Sciences, Harvard Medical School, Boston, USA
-
- Luo, Yang (författare)
- Wellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Hinxton, UK
-
- Heap, Graham A. (författare)
- IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter, UK
-
- Visschedijk, Marijn C. (författare)
- Department of Gastroenterology and Hepatology, University of Groningen, Groningen, The Netherlands; Department of Gastroenterology and Hepatology, University Medical Center Groningen, Groningen, The Netherlands
-
- MacArthur, Daniel G. (författare)
- 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
-
- Neale, Benjamin M. (författare)
- 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
-
- Ahmad, Tariq (författare)
- Peninsula College of Medicine and Dentistry, Exeter, UK
-
- Anderson, Carl A. (författare)
- Wellcome Trust Genome Campus, Wellcome Trust Sanger Institute, Hinxton, UK
-
- Brant, Steven R. (författare)
- 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
-
- Duerr, Richard H. (författare)
- 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
-
- Silverberg, Mark S. (författare)
- Department of Medicine, Inflammatory Bowel Disease Centre, Mount Sinai Hospital, Toronto, Canada
-
- Cho, Judy H. (författare)
- Department of Genetics, Yale School of Medicine, New Haven, USA
-
- Palotie, Aarno (författare)
- 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 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
-
- Saavalainen, Päivi (författare)
- Research Programs Unit, Immunobiology, University of Helsinki, Helsinki, Finland
-
- Kontula, Kimmo (författare)
- Department of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland
-
- Färkkilä, Martti (författare)
- Department of Medicine, University of Helsinki, Helsinki, Finland; Helsinki University Hospital, Helsinki, Finland; Clinic of Gastroenterology, Helsinki University Hospital, Helsinki, Finland
-
- McGovern, Dermot P. B. (författare)
- 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
-
- Franke, Andre (författare)
- Institute of Clinical Molecular Biology, Christian-Albrechts-University, Kiel, Germany
-
- Stefansson, Kari (författare)
- deCODE Genetics, Amgen Inc., Reykjavik, Iceland; Faculty of Medicine, University of Iceland, Reykjavik, Iceland
-
- Rioux, John D. (författare)
- Research Center, Montreal Heart Institute, Montréal, Canada; Faculté de Médecine, Université de Montréal, Montréal, Canada
-
- Xavier, Ramnik J. (författare)
- 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
-
- Daly, Mark J. (författare)
- 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
-
- Barrett, J. (författare)
- IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter, UK
-
- de Lane, K. (författare)
- IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust, Exeter, UK
-
- Wang, M. H. (författare)
- Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, USA
-
visa färre...
-
(creator_code:org_t)
- 2016-08-09
- 2016
- Engelska.
-
Ingår i: Nature Communications. - London, United Kingdom : Nature Publishing Group. - 2041-1723. ; 7
- Relaterad länk:
-
https://doi.org/10.1...
-
visa fler...
-
https://www.nature.c...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
http://kipublication...
-
visa färre...
Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- NATURVETENSKAP -- Biologi -- Biokemi och molekylärbiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Biochemistry and Molecular Biology (hsv//eng)
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Rivas, Manuel A.
-
Graham, Daniel
-
Sulem, Patrick
-
Stevens, Christi ...
-
Desch, A. Nicole
-
Goyette, Philipp ...
-
visa fler...
-
Gudbjartsson, Da ...
-
Jonsdottir, Ingi ...
-
Thorsteinsdottir ...
-
Degenhardt, Frau ...
-
Mucha, Sören
-
Kurki, Mitja I.
-
Li, Dalin
-
D'Amato, Mauro
-
Annese, Vito
-
Vermeire, Severi ...
-
Weersma, Rinse K ...
-
Halfvarson, Jona ...
-
Paavola-Sakki, P ...
-
Lappalainen, Maa ...
-
Lek, Monkol
-
Cummings, Beryl
-
Tukiainen, Taru
-
Haritunians, Tal ...
-
Halme, Leena
-
Koskinen, Lotta ...
-
Ananthakrishnan, ...
-
Luo, Yang
-
Heap, Graham A.
-
Visschedijk, Mar ...
-
MacArthur, Danie ...
-
Neale, Benjamin ...
-
Ahmad, Tariq
-
Anderson, Carl A ...
-
Brant, Steven R.
-
Duerr, Richard H ...
-
Silverberg, Mark ...
-
Cho, Judy H.
-
Palotie, Aarno
-
Saavalainen, Päi ...
-
Kontula, Kimmo
-
Färkkilä, Martti
-
McGovern, Dermot ...
-
Franke, Andre
-
Stefansson, Kari
-
Rioux, John D.
-
Xavier, Ramnik J ...
-
Daly, Mark J.
-
Barrett, J.
-
de Lane, K.
-
Wang, M. H.
-
visa färre...
- Om ämnet
-
- NATURVETENSKAP
-
NATURVETENSKAP
-
och Biologi
-
och Biokemi och mole ...
- Artiklar i publikationen
-
Nature Communica ...
- Av lärosätet
-
Örebro universitet
-
Karolinska Institutet