Article
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Nature communications - 9 Aug 2016
Rivas Manuel A, Graham Daniel, Sulem Patrick, Stevens Christine, Desch A Nicole, Goyette Philippe, Gudbjartsson Daniel, Jonsdottir Ingileif, Thorsteinsdottir Unnur, Degenhardt Frauke, Mucha Sören, Kurki Mitja I, Li Dalin, D'Amato Mauro, Annese Vito, Vermeire Severine, Weersma Rinse K, Halfvarson Jonas, Paavola-Sakki Paulina, Lappalainen Maarit, Lek Monkol, Cummings Beryl, Tukiainen Taru, Haritunians Talin, Halme Leena, Koskinen Lotta L E, Ananthakrishnan Ashwin N, Luo Yang, Heap Graham A, Visschedijk Marijn C, MacArthur Daniel G, Neale Benjamin M, Ahmad Tariq, Anderson Carl A, Brant Steven R, Duerr Richard H, Silverberg Mark S, Cho Judy H, Palotie Aarno, Saavalainen Päivi, Kontula Kimmo, Färkkilä Martti, McGovern Dermot P B, Franke Andre, Stefansson Kari, Rioux John D, Xavier Ramnik J, Daly Mark J, Barrett J, de Lane K, Edwards C, Hart A, Hawkey C, Jostins L, Kennedy N, Lamb C, Lee J, Lees C, Mansfield J, Mathew C, Mowatt C, Newman B, Nimmo E, Parkes M, Pollard M, Prescott N, Randall J, Rice D, Satsangi J, Simmons A, Tremelling M, Uhlig H, Wilson D, Abraham C, Achkar J P, Bitton A, Boucher G, Croitoru K, Fleshner P, Glas J, Kugathasan S, Limbergen J V, Milgrom R, Proctor D, Regueiro M, Schumm P L, Sharma Y, Stempak J M, Targan S R, Wang M H
Abstract excerpt
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...
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