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

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

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

Sun-Gou Ji
, Brian D Juran
, Sören Mucha
, Trine Folseraas
, Luke Jostins
, Espen Melum
, Natsuhiko Kumasaka
, Elizabeth J Atkinson
, Erik M Schlicht
, Jimmy Z Liu
, Tejas Shah
, Javier Gutierrez-Achury
, Kirsten M Boberg
, Annika Bergquist
, Severine Vermeire
, Bertus Eksteen
, Peter R Durie
, Martti Farkkila
, Tobias Müller
, Christoph Schramm

Martina Sterneck, Tobias J Weismüller, Daniel N Gotthardt, David Ellinghaus, Felix Braun, Andreas Teufel, Mattias Laudes, Wolfgang Lieb, Gunnar Jacobs, Ulrich Beuers, Rinse K Weersma, Cisca Wijmenga, Hanns-Ulrich Marschall, Piotr Milkiewicz, Albert Pares, Kimmo Kontula, Olivier Chazouillères, Pietro Invernizzi, Elizabeth Goode, Kelly Spiess, Carmel Moore, Jennifer Sambrook, Willem H Ouwehand, David J Roberts, John Danesh, Annarosa Floreani, Aliya F Gulamhusein, John E Eaton, Stefan Schreiber, Catalina Coltescu, Christopher L Bowlus, Velimir A Luketic, Joseph A Odin, Kapil B Chopra, Kris V Kowdley, Naga Chalasani, Michael P Manns, Brijesh Srivastava, George Mells, Richard N Sandford, Graeme Alexander, Daniel J Gaffney, Roger W Chapman, Gideon M Hirschfield, Mariza de Andrade, Simon M Rushbrook, Andre Franke, Tom H Karlsen, Konstantinos N Lazaridis, Carl A Anderson

Research output: Contribution to journal › Article

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 (r

Original language	American English
Journal	Articles, Abstracts, and Reports
State	Published - Feb 1 2017

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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., ... Anderson, C. A. (2017). Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. Articles, Abstracts, and Reports. http://digitalcommons.providence.org/publications/2433

@article{47ee56ff32cb40e0a819ff13486691d4,

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 (r",

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\}",

year = "2017",

month = feb,

day = "1",

language = "American English",

journal = "Articles, Abstracts, and Reports",

}

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 2017, 'Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.', Articles, Abstracts, and Reports. <http://digitalcommons.providence.org/publications/2433>

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

PY - 2017/2/1

Y1 - 2017/2/1

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 (r

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 (r

M3 - Article

JO - Articles, Abstracts, and Reports

JF - Articles, Abstracts, and Reports

ER -

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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