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

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

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 v...

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Autores principales: 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
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Lenguaje:EN
Publicado: Nature Portfolio 2016
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spelling oai:doaj.org-article:7ec515461747449295bc0f9f7b59f4202021-12-02T14:38:54ZA protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis10.1038/ncomms123422041-1723https://doaj.org/article/7ec515461747449295bc0f9f7b59f4202016-08-01T00:00:00Zhttps://doi.org/10.1038/ncomms12342https://doaj.org/toc/2041-1723While 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.Manuel A. RivasDaniel GrahamPatrick SulemChristine StevensA. Nicole DeschPhilippe GoyetteDaniel GudbjartssonIngileif JonsdottirUnnur ThorsteinsdottirFrauke DegenhardtSören MuchaMitja I. KurkiDalin LiMauro D’AmatoVito AnneseSeverine VermeireRinse K. WeersmaJonas HalfvarsonPaulina Paavola-SakkiMaarit LappalainenMonkol LekBeryl CummingsTaru TukiainenTalin HarituniansLeena HalmeLotta L. E. KoskinenAshwin N. AnanthakrishnanYang LuoGraham A. HeapMarijn C. VisschedijkUK IBD Genetics ConsortiumNIDDK IBD Genetics ConsortiumDaniel G. MacArthurBenjamin M. NealeTariq AhmadCarl A. AndersonSteven R. BrantRichard H. DuerrMark S. SilverbergJudy H ChoAarno PalotiePäivi SaavalainenKimmo KontulaMartti FärkkiläDermot P. B. McGovernAndre FrankeKari StefanssonJohn D. RiouxRamnik J. XavierMark J. DalyNature PortfolioarticleScienceQENNature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
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
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
description 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.
format article
author 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
author_facet 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
author_sort Manuel A. Rivas
title A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
title_short A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
title_full A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
title_fullStr A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
title_full_unstemmed A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
title_sort protein-truncating r179x variant in rnf186 confers protection against ulcerative colitis
publisher Nature Portfolio
publishDate 2016
url https://doaj.org/article/7ec515461747449295bc0f9f7b59f420
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