Nature Communications (Aug 2016)
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
- Manuel A. Rivas,
- Daniel Graham,
- Patrick Sulem,
- Christine Stevens,
- A. Nicole Desch,
- Philippe Goyette,
- Daniel Gudbjartsson,
- Ingileif Jonsdottir,
- Unnur Thorsteinsdottir,
- Frauke Degenhardt,
- Sören Mucha,
- Mitja I. Kurki,
- Dalin Li,
- Mauro D’Amato,
- Vito Annese,
- Severine Vermeire,
- Rinse K. Weersma,
- Jonas Halfvarson,
- Paulina Paavola-Sakki,
- Maarit Lappalainen,
- Monkol Lek,
- Beryl Cummings,
- Taru Tukiainen,
- Talin Haritunians,
- Leena Halme,
- Lotta L. E. Koskinen,
- Ashwin N. Ananthakrishnan,
- Yang Luo,
- Graham A. Heap,
- Marijn C. Visschedijk,
- UK IBD Genetics Consortium,
- NIDDK IBD Genetics Consortium,
- Daniel G. MacArthur,
- Benjamin M. Neale,
- Tariq Ahmad,
- Carl A. Anderson,
- Steven R. Brant,
- Richard H. Duerr,
- Mark S. Silverberg,
- Judy H Cho,
- Aarno Palotie,
- Päivi Saavalainen,
- Kimmo Kontula,
- Martti Färkkilä,
- Dermot P. B. McGovern,
- Andre Franke,
- Kari Stefansson,
- John D. Rioux,
- Ramnik J. Xavier,
- Mark J. Daly
Affiliations
- Manuel A. Rivas
- Broad Institute of MIT and Harvard
- Daniel Graham
- Broad Institute of MIT and Harvard
- Patrick Sulem
- deCODE Genetics, Amgen Inc.
- Christine Stevens
- Broad Institute of MIT and Harvard
- A. Nicole Desch
- Broad Institute of MIT and Harvard
- Philippe Goyette
- Research Center, Montreal Heart Institute
- Daniel Gudbjartsson
- deCODE Genetics, Amgen Inc.
- Ingileif Jonsdottir
- deCODE Genetics, Amgen Inc.
- Unnur Thorsteinsdottir
- deCODE Genetics, Amgen Inc.
- Frauke Degenhardt
- Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel
- Sören Mucha
- Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel
- Mitja I. Kurki
- Broad Institute of MIT and Harvard
- Dalin Li
- F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center
- Mauro D’Amato
- Department of Biosciences and Nutrition, Karolinska Institutet
- Vito Annese
- Unit of Gastroenterology, Istituto di Ricovero e Cura a Carattere Scientifico-Casa Sollievo della Sofferenza (IRCCS-CSS) Hospital
- Severine Vermeire
- Department of Clinical and Experimental Medicine, Translational Research in GastroIntestinal Disorders (TARGID), Katholieke Universiteit (KU) Leuven
- Rinse K. Weersma
- Department of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen
- Jonas Halfvarson
- Department of Gastroenterology, Faculty of Medicine and Health, Örebro University
- Paulina Paavola-Sakki
- Department of Medicine, University of Helsinki
- Maarit Lappalainen
- Department of Medicine, University of Helsinki
- Monkol Lek
- Broad Institute of MIT and Harvard
- Beryl Cummings
- Broad Institute of MIT and Harvard
- Taru Tukiainen
- Broad Institute of MIT and Harvard
- Talin Haritunians
- F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center
- Leena Halme
- Department of Transplantation and Liver Surgery, University of Helsinki
- Lotta L. E. Koskinen
- and Department of Medical and Clinical Genetics, Research Programs Unit, Immunobiology, University of Helsinki
- Ashwin N. Ananthakrishnan
- Gastroenterology Unit, Massachusetts General Hospital, Harvard Medical School
- Yang Luo
- Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
- Graham A. Heap
- IBD Pharmacogenetics, Royal Devon and Exeter NHS Trust
- Marijn C. Visschedijk
- Department of Gastroenterology and Hepatology, University of Groningen and University Medical Center Groningen
- UK IBD Genetics Consortium
- NIDDK IBD Genetics Consortium
- Daniel G. MacArthur
- Broad Institute of MIT and Harvard
- Benjamin M. Neale
- Broad Institute of MIT and Harvard
- Tariq Ahmad
- Peninsula College of Medicine and Dentistry
- Carl A. Anderson
- Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus
- Steven R. Brant
- Department of Medicine, Meyerhoff Inflammatory Bowel Disease Center, School of Medicine, Johns Hopkins University
- Richard H. Duerr
- Division of Gastroenterology, Department of Medicine, Hepatology and Nutrition, University of Pittsburgh School of Medicine
- Mark S. Silverberg
- Department of Medicine, Inflammatory Bowel Disease Centre, Mount Sinai Hospital
- Judy H Cho
- Department of Genetics, Yale School of Medicine
- Aarno Palotie
- Broad Institute of MIT and Harvard
- Päivi Saavalainen
- Research Programs Unit, Immunobiology, University of Helsinki
- Kimmo Kontula
- Department of Medicine, University of Helsinki
- Martti Färkkilä
- Department of Medicine, University of Helsinki
- Dermot P. B. McGovern
- F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center
- Andre Franke
- Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel
- Kari Stefansson
- deCODE Genetics, Amgen Inc.
- John D. Rioux
- Research Center, Montreal Heart Institute
- Ramnik J. Xavier
- Broad Institute of MIT and Harvard
- Mark J. Daly
- Broad Institute of MIT and Harvard
- DOI
- https://doi.org/10.1038/ncomms12342
- Journal volume & issue
-
Vol. 7,
no. 1
pp. 1 – 8
Abstract
While hundreds of loci are linked with inflammatory bowel diseases (IBDs), the functional consequences of the associated variants remain unclear. Here, the authors screened in ulcerative colitis (UC) patients’ genomes for protein-truncating variants near IBD loci, and identify a protein truncating variant in RNF186to be protective against UC.
