A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
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ABSTRACT:
SUBMITTER: Rivas MA
PROVIDER: S-EPMC4980482 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Publications
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Rivas Manuel A MA Graham Daniel D Sulem Patrick P Stevens Christine C Desch A Nicole AN Goyette Philippe P Gudbjartsson Daniel D Jonsdottir Ingileif I Thorsteinsdottir Unnur U Degenhardt Frauke F Mucha Sören S Kurki Mitja I MI Li Dalin D D'Amato Mauro M Annese Vito V Vermeire Severine S Weersma Rinse K RK Halfvarson Jonas J Paavola-Sakki Paulina P Lappalainen Maarit M Lek Monkol M Cummings Beryl B Tukiainen Taru T Haritunians Talin T Halme Leena L Koskinen Lotta L E LL Ananthakrishnan Ashwin N AN Luo Yang Y Heap Graham A GA Visschedijk Marijn C MC MacArthur Daniel G DG Neale Benjamin M BM Ahmad Tariq T Anderson Carl A CA Brant Steven R SR Duerr Richard H RH Silverberg Mark S MS Cho Judy H JH Palotie Aarno A Saavalainen Päivi P Kontula Kimmo K Färkkilä Martti M McGovern Dermot P B DP Franke Andre A Stefansson Kari K Rioux John D JD Xavier Ramnik J RJ Daly Mark J MJ Barrett J J de Lane K K Edwards C C Hart A A Hawkey C C Jostins L L Kennedy N N Lamb C C Lee J J Lees C C Mansfield J J Mathew C C Mowatt C C Newman B B Nimmo E E Parkes M M Pollard M M Prescott N N Randall J J Rice D D Satsangi J J Simmons A A Tremelling M M Uhlig H H Wilson D D Abraham C C Achkar J P JP Bitton A A Boucher G G Croitoru K K Fleshner P P Glas J J Kugathasan S S Limbergen J V JV Milgrom R R Proctor D D Regueiro M M Schumm P L PL Sharma Y Y Stempak J M JM Targan S R SR Wang M H MH
Nature communications 20160809
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 ...[more]
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