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Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

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Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. / Ji, Sun-Gou; Juran, Brian D; Mucha, Sören; Folseraas, Trine; Jostins, Luke; Melum, Espen; Kumasaka, Natsuhiko; Atkinson, Elizabeth J; Schlicht, Erik M; Liu, Jimmy Z; Shah, Tejas; Gutierrez-Achury, Javier; Boberg, Kirsten M; Bergquist, Annika; Vermeire, Severine; Eksteen, Bertus; Durie, Peter R; Farkkila, Martti; Müller, Tobias; Schramm, Christoph; Sterneck, Martina; Weismüller, Tobias J; Gotthardt, Daniel N; Ellinghaus, David; Braun, Felix; Teufel, Andreas; Laudes, Mattias; Lieb, Wolfgang; Jacobs, Gunnar; Beuers, Ulrich; Weersma, Rinse K; Wijmenga, Cisca; Marschall, Hanns-Ulrich; Milkiewicz, Piotr; Pares, Albert; Kontula, Kimmo; Chazouillères, Olivier; Invernizzi, Pietro; Goode, Elizabeth; Spiess, Kelly; Moore, Carmel; Sambrook, Jennifer; Ouwehand, Willem H; Roberts, David J; Danesh, John; Floreani, Annarosa; Gulamhusein, Aliya F; Eaton, John E; Schreiber, Stefan; Coltescu, Catalina; Bowlus, Christopher L; Luketic, Velimir A; Odin, Joseph A; Chopra, Kapil B; Kowdley, Kris V; Chalasani, Naga; Manns, Michael P; Srivastava, Brijesh; Mells, George; Sandford, Richard N; Alexander, Graeme; Gaffney, Daniel J; Chapman, Roger W; Hirschfield, Gideon M; de Andrade, Mariza; Rushbrook, Simon M; Franke, Andre; Karlsen, Tom H; Lazaridis, Konstantinos N; Anderson, Carl A; UK-PSC Consortium.

In: NAT GENET, Vol. 49, No. 2, 02.2017, p. 269-273.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Ji, S-G, Juran, BD, Mucha, S, Folseraas, T, Jostins, L, Melum, E, Kumasaka, N, Atkinson, EJ, Schlicht, EM, Liu, JZ, Shah, T, Gutierrez-Achury, J, Boberg, KM, Bergquist, A, Vermeire, S, Eksteen, B, Durie, PR, Farkkila, M, Müller, T, Schramm, C, Sterneck, M, Weismüller, TJ, Gotthardt, DN, Ellinghaus, D, Braun, F, Teufel, A, Laudes, M, Lieb, W, Jacobs, G, Beuers, U, Weersma, RK, Wijmenga, C, Marschall, H-U, Milkiewicz, P, Pares, A, Kontula, K, Chazouillères, O, Invernizzi, P, Goode, E, Spiess, K, Moore, C, Sambrook, J, Ouwehand, WH, Roberts, DJ, Danesh, J, Floreani, A, Gulamhusein, AF, Eaton, JE, Schreiber, S, Coltescu, C, Bowlus, CL, Luketic, VA, Odin, JA, Chopra, KB, Kowdley, KV, Chalasani, N, Manns, MP, Srivastava, B, Mells, G, Sandford, RN, Alexander, G, Gaffney, DJ, Chapman, RW, Hirschfield, GM, de Andrade, M, Rushbrook, SM, Franke, A, Karlsen, TH, Lazaridis, KN, Anderson, CA & UK-PSC Consortium 2017, 'Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease', NAT GENET, vol. 49, no. 2, pp. 269-273. https://doi.org/10.1038/ng.3745

APA

Ji, S-G., Juran, B. D., Mucha, S., Folseraas, T., Jostins, L., Melum, E., Kumasaka, N., Atkinson, E. J., Schlicht, E. M., Liu, J. Z., Shah, T., Gutierrez-Achury, J., Boberg, K. M., Bergquist, A., Vermeire, S., Eksteen, B., Durie, P. R., Farkkila, M., Müller, T., ... UK-PSC Consortium (2017). Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. NAT GENET, 49(2), 269-273. https://doi.org/10.1038/ng.3745

Vancouver

Ji S-G, Juran BD, Mucha S, Folseraas T, Jostins L, Melum E et al. Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. NAT GENET. 2017 Feb;49(2):269-273. https://doi.org/10.1038/ng.3745

Bibtex

@article{7c5d52d41e1049849f9afcc1c08630fc,
title = "Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease",
abstract = "Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; ∼75% of patients have comorbid inflammatory bowel disease (IBD). We undertook the largest genome-wide association study of PSC (4,796 cases and 19,955 population controls) and identified four new genome-wide significant loci. The most associated SNP at one locus affects splicing and expression of UBASH3A, with the protective allele (C) predicted to cause nonstop-mediated mRNA decay and lower expression of UBASH3A. Further analyses based on common variants suggested that the genome-wide genetic correlation (rG) between PSC and ulcerative colitis (UC) (rG = 0.29) was significantly greater than that between PSC and Crohn's disease (CD) (rG = 0.04) (P = 2.55 × 10(-15)). UC and CD were genetically more similar to each other (rG = 0.56) than either was to PSC (P < 1.0 × 10(-15)). Our study represents a substantial advance in understanding of the genetics of PSC.",
author = "Sun-Gou Ji and Juran, {Brian D} and S{\"o}ren Mucha and Trine Folseraas and Luke Jostins and Espen Melum and Natsuhiko Kumasaka and Atkinson, {Elizabeth J} and Schlicht, {Erik M} and Liu, {Jimmy Z} and Tejas Shah and Javier Gutierrez-Achury and Boberg, {Kirsten M} and Annika Bergquist and Severine Vermeire and Bertus Eksteen and Durie, {Peter R} and Martti Farkkila and Tobias M{\"u}ller and Christoph Schramm and Martina Sterneck and Weism{\"u}ller, {Tobias J} and Gotthardt, {Daniel N} and David Ellinghaus and Felix Braun and Andreas Teufel and Mattias Laudes and Wolfgang Lieb and Gunnar Jacobs and Ulrich Beuers and Weersma, {Rinse K} and Cisca Wijmenga and Hanns-Ulrich Marschall and Piotr Milkiewicz and Albert Pares and Kimmo Kontula and Olivier Chazouill{\`e}res and Pietro Invernizzi and Elizabeth Goode and Kelly Spiess and Carmel Moore and Jennifer Sambrook and Ouwehand, {Willem H} and Roberts, {David J} and John Danesh and Annarosa Floreani and Gulamhusein, {Aliya F} and Eaton, {John E} and Stefan Schreiber and Catalina Coltescu and Bowlus, {Christopher L} and Luketic, {Velimir A} and Odin, {Joseph A} and Chopra, {Kapil B} and Kowdley, {Kris V} and Naga Chalasani and Manns, {Michael P} and Brijesh Srivastava and George Mells and Sandford, {Richard N} and Graeme Alexander and Gaffney, {Daniel J} and Chapman, {Roger W} and Hirschfield, {Gideon M} and {de Andrade}, Mariza and Rushbrook, {Simon M} and Andre Franke and Karlsen, {Tom H} and Lazaridis, {Konstantinos N} and Anderson, {Carl A} and {UK-PSC Consortium}",
year = "2017",
month = feb,
doi = "10.1038/ng.3745",
language = "English",
volume = "49",
pages = "269--273",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",
number = "2",

}

RIS

TY - JOUR

T1 - Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

AU - Ji, Sun-Gou

AU - Juran, Brian D

AU - Mucha, Sören

AU - Folseraas, Trine

AU - Jostins, Luke

AU - Melum, Espen

AU - Kumasaka, Natsuhiko

AU - Atkinson, Elizabeth J

AU - Schlicht, Erik M

AU - Liu, Jimmy Z

AU - Shah, Tejas

AU - Gutierrez-Achury, Javier

AU - Boberg, Kirsten M

AU - Bergquist, Annika

AU - Vermeire, Severine

AU - Eksteen, Bertus

AU - Durie, Peter R

AU - Farkkila, Martti

AU - Müller, Tobias

AU - Schramm, Christoph

AU - Sterneck, Martina

AU - Weismüller, Tobias J

AU - Gotthardt, Daniel N

AU - Ellinghaus, David

AU - Braun, Felix

AU - Teufel, Andreas

AU - Laudes, Mattias

AU - Lieb, Wolfgang

AU - Jacobs, Gunnar

AU - Beuers, Ulrich

AU - Weersma, Rinse K

AU - Wijmenga, Cisca

AU - Marschall, Hanns-Ulrich

AU - Milkiewicz, Piotr

AU - Pares, Albert

AU - Kontula, Kimmo

AU - Chazouillères, Olivier

AU - Invernizzi, Pietro

AU - Goode, Elizabeth

AU - Spiess, Kelly

AU - Moore, Carmel

AU - Sambrook, Jennifer

AU - Ouwehand, Willem H

AU - Roberts, David J

AU - Danesh, John

AU - Floreani, Annarosa

AU - Gulamhusein, Aliya F

AU - Eaton, John E

AU - Schreiber, Stefan

AU - Coltescu, Catalina

AU - Bowlus, Christopher L

AU - Luketic, Velimir A

AU - Odin, Joseph A

AU - Chopra, Kapil B

AU - Kowdley, Kris V

AU - Chalasani, Naga

AU - Manns, Michael P

AU - Srivastava, Brijesh

AU - Mells, George

AU - Sandford, Richard N

AU - Alexander, Graeme

AU - Gaffney, Daniel J

AU - Chapman, Roger W

AU - Hirschfield, Gideon M

AU - de Andrade, Mariza

AU - Rushbrook, Simon M

AU - Franke, Andre

AU - Karlsen, Tom H

AU - Lazaridis, Konstantinos N

AU - Anderson, Carl A

AU - UK-PSC Consortium

PY - 2017/2

Y1 - 2017/2

N2 - Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; ∼75% of patients have comorbid inflammatory bowel disease (IBD). We undertook the largest genome-wide association study of PSC (4,796 cases and 19,955 population controls) and identified four new genome-wide significant loci. The most associated SNP at one locus affects splicing and expression of UBASH3A, with the protective allele (C) predicted to cause nonstop-mediated mRNA decay and lower expression of UBASH3A. Further analyses based on common variants suggested that the genome-wide genetic correlation (rG) between PSC and ulcerative colitis (UC) (rG = 0.29) was significantly greater than that between PSC and Crohn's disease (CD) (rG = 0.04) (P = 2.55 × 10(-15)). UC and CD were genetically more similar to each other (rG = 0.56) than either was to PSC (P < 1.0 × 10(-15)). Our study represents a substantial advance in understanding of the genetics of PSC.

AB - Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct destruction; ∼75% of patients have comorbid inflammatory bowel disease (IBD). We undertook the largest genome-wide association study of PSC (4,796 cases and 19,955 population controls) and identified four new genome-wide significant loci. The most associated SNP at one locus affects splicing and expression of UBASH3A, with the protective allele (C) predicted to cause nonstop-mediated mRNA decay and lower expression of UBASH3A. Further analyses based on common variants suggested that the genome-wide genetic correlation (rG) between PSC and ulcerative colitis (UC) (rG = 0.29) was significantly greater than that between PSC and Crohn's disease (CD) (rG = 0.04) (P = 2.55 × 10(-15)). UC and CD were genetically more similar to each other (rG = 0.56) than either was to PSC (P < 1.0 × 10(-15)). Our study represents a substantial advance in understanding of the genetics of PSC.

U2 - 10.1038/ng.3745

DO - 10.1038/ng.3745

M3 - SCORING: Journal article

C2 - 27992413

VL - 49

SP - 269

EP - 273

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

IS - 2

ER -