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; Soeren Mucha; Mitja I. Kurki; Dalin Li; Mauro D'Amato; Vito Annese; Severine Vermeire; Rinse K. Weersma; Jonas Halfvarson; Anu Liisa Paulina Paavola-Sakki; Anne 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; 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; Paivi Saavalainen; Kimmo Kontula; Martti Farkkila; Dermot P. B. McGovern; Andre Franke; Kari Stefansson; John D. Rioux; Ramnik J. Xavier; Mark J. Daly

doi:10.1038/ncomms12342

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, Soeren Mucha, Mitja I. Kurki, Dalin Li, Mauro D'Amato, Vito Annese, Severine Vermeire, Rinse K. Weersma, Jonas Halfvarson, Anu Liisa Paulina Paavola-Sakki, Anne Maarit LappalainenMonkol Lek, Beryl Cummings, Taru Tukiainen, Talin Haritunians, Leena Halme, Lotta L. E. Koskinen, Ashwin N. Ananthakrishnan, Yang Luo, Graham A. Heap, Marijn C. Visschedijk, 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, Paivi Saavalainen, Kimmo Kontula, Martti Farkkila, Dermot P. B. McGovern, Andre Franke, Kari Stefansson, John D. Rioux, Ramnik J. Xavier, Mark J. Daly

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Article number	12342
Journal	Nature Communications
Volume	7
Number of pages	7
ISSN	2041-1723
DOIs	https://doi.org/10.1038/ncomms12342
Publication status	Published - Aug 2016
MoE publication type	A1 Journal article-refereed

Fields of Science

INFLAMMATORY-BOWEL-DISEASE
OF-FUNCTION VARIANTS
SUSCEPTIBILITY LOCI
RARE VARIANTS
RISK
ASSOCIATION
NUMBER
POPULATION
IMPUTATION
MUTATIONS
3111 Biomedicine

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10.1038/ncomms12342

A protein-truncating R179X variantFinal published version, 547 KB

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Rivas, M. A., Graham, D., Sulem, P., Stevens, C., Desch, A. N., Goyette, P., Gudbjartsson, D., Jonsdottir, I., Thorsteinsdottir, U., Degenhardt, F., Mucha, S., Kurki, M. I., Li, D., D'Amato, M., Annese, V., Vermeire, S., Weersma, R. K., Halfvarson, J., Paavola-Sakki, A. L. P., ... Daly, M. J. (2016). A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. Nature Communications, 7, [12342]. https://doi.org/10.1038/ncomms12342

@article{a1720f2eb6594026aee86e3e5f922ad2,

title = "A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis",

keywords = "INFLAMMATORY-BOWEL-DISEASE, OF-FUNCTION VARIANTS, SUSCEPTIBILITY LOCI, RARE VARIANTS, RISK, ASSOCIATION, NUMBER, POPULATION, IMPUTATION, MUTATIONS, 3111 Biomedicine",

author = "Rivas, {Manuel A.} and Daniel Graham and Patrick Sulem and Christine Stevens and Desch, {A. Nicole} and Philippe Goyette and Daniel Gudbjartsson and Ingileif Jonsdottir and Unnur Thorsteinsdottir and Frauke Degenhardt and Soeren Mucha and Kurki, {Mitja I.} and Dalin Li and Mauro D'Amato and Vito Annese and Severine Vermeire and Weersma, {Rinse K.} and Jonas Halfvarson and Paavola-Sakki, {Anu Liisa Paulina} and Lappalainen, {Anne Maarit} and Monkol Lek and Beryl Cummings and Taru Tukiainen and Talin Haritunians and Leena Halme and Koskinen, {Lotta L. E.} and Ananthakrishnan, {Ashwin N.} and Yang Luo and Heap, {Graham A.} and Visschedijk, {Marijn C.} and MacArthur, {Daniel G.} and Neale, {Benjamin M.} and Tariq Ahmad and Anderson, {Carl A.} and Brant, {Steven R.} and Duerr, {Richard H.} and Silverberg, {Mark S.} and Cho, {Judy H.} and Aarno Palotie and Paivi Saavalainen and Kimmo Kontula and Martti Farkkila and McGovern, {Dermot P. B.} and Andre Franke and Kari Stefansson and Rioux, {John D.} and Xavier, {Ramnik J.} and Daly, {Mark J.}",

year = "2016",

month = aug,

doi = "10.1038/ncomms12342",

language = "English",

volume = "7",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Publishing Group",

}

Rivas, MA, Graham, D, Sulem, P, Stevens, C, Desch, AN, Goyette, P, Gudbjartsson, D, Jonsdottir, I, Thorsteinsdottir, U, Degenhardt, F, Mucha, S, Kurki, MI, Li, D, D'Amato, M, Annese, V, Vermeire, S, Weersma, RK, Halfvarson, J, Paavola-Sakki, ALP, Lappalainen, AM, Lek, M, Cummings, B, Tukiainen, T, Haritunians, T, Halme, L, Koskinen, LLE, Ananthakrishnan, AN, Luo, Y, Heap, GA, Visschedijk, MC, MacArthur, DG, Neale, BM, Ahmad, T, Anderson, CA, Brant, SR, Duerr, RH, Silverberg, MS, Cho, JH, Palotie, A , Saavalainen, P , Kontula, K , Farkkila, M, McGovern, DPB, Franke, A, Stefansson, K, Rioux, JD, Xavier, RJ & Daly, MJ 2016, 'A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis', Nature Communications, vol. 7, 12342. https://doi.org/10.1038/ncomms12342

TY - JOUR

T1 - A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

AU - Rivas, Manuel A.

AU - Graham, Daniel

AU - Sulem, Patrick

AU - Stevens, Christine

AU - Desch, A. Nicole

AU - Goyette, Philippe

AU - Gudbjartsson, Daniel

AU - Jonsdottir, Ingileif

AU - Thorsteinsdottir, Unnur

AU - Degenhardt, Frauke

AU - Mucha, Soeren

AU - Kurki, Mitja I.

AU - Li, Dalin

AU - D'Amato, Mauro

AU - Annese, Vito

AU - Vermeire, Severine

AU - Weersma, Rinse K.

AU - Halfvarson, Jonas

AU - Paavola-Sakki, Anu Liisa Paulina

AU - Lappalainen, Anne Maarit

AU - Lek, Monkol

AU - Cummings, Beryl

AU - Tukiainen, Taru

AU - Haritunians, Talin

AU - Halme, Leena

AU - Koskinen, Lotta L. E.

AU - Ananthakrishnan, Ashwin N.

AU - Luo, Yang

AU - Heap, Graham A.

AU - Visschedijk, Marijn C.

AU - MacArthur, Daniel G.

AU - Neale, Benjamin M.

AU - Ahmad, Tariq

AU - Anderson, Carl A.

AU - Brant, Steven R.

AU - Duerr, Richard H.

AU - Silverberg, Mark S.

AU - Cho, Judy H.

AU - Palotie, Aarno

AU - Saavalainen, Paivi

AU - Kontula, Kimmo

AU - Farkkila, Martti

AU - McGovern, Dermot P. B.

AU - Franke, Andre

AU - Stefansson, Kari

AU - Rioux, John D.

AU - Xavier, Ramnik J.

AU - Daly, Mark J.

PY - 2016/8

Y1 - 2016/8

KW - INFLAMMATORY-BOWEL-DISEASE

KW - OF-FUNCTION VARIANTS

KW - SUSCEPTIBILITY LOCI

KW - RARE VARIANTS

KW - RISK

KW - ASSOCIATION

KW - NUMBER

KW - POPULATION

KW - IMPUTATION

KW - MUTATIONS

KW - 3111 Biomedicine

U2 - 10.1038/ncomms12342

DO - 10.1038/ncomms12342

M3 - Article

VL - 7

JO - Nature Communications

JF - Nature Communications

SN - 2041-1723

M1 - 12342

ER -