Journal ArticleDOI
Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4.
David Ellinghaus,Trine Folseraas,Kristian Holm,Eva Ellinghaus,Espen Melum,Tobias Balschun,Jon K. Laerdahl,Alexey Shiryaev,Daniel Gotthardt,Tobias J. Weismüller,Christoph Schramm,Michael Wittig,Annika Bergquist,Einar Bjornsson,Hanns-Ulrich Marschall,Morten H. Vatn,Andreas Teufel,Christian Rust,Christian Gieger,H-Erich Wichmann,Heiko Runz,Martina Sterneck,Christian Rupp,Felix Braun,Rinse K. Weersma,Cisca Wijmenga,Cyriel Y. Ponsioen,Christopher G. Mathew,Paul Rutgeerts,Severine Vermeire,Erik Schrumpf,Johannes R. Hov,Michael P. Manns,Kirsten Muri Boberg,Stefan Schreiber,Andre Franke,Tom H. Karlsen +36 more
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TLDR
By refining the analysis of a PSC GWAS by parallel assessments in a UC GWAS, this work was able to detect two novel risk loci at genome‐wide significance levels that may represent previously unexplored aspects of PSC pathogenesis.About:
This article is published in Hepatology.The article was published on 2013-09-01. It has received 152 citations till now. The article focuses on the topics: Primary sclerosing cholangitis.read more
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Journal ArticleDOI
Primary sclerosing cholangitis
TL;DR: The role of environmental factors in generation of lymphocytes that are postulated to be retargeted, deleteriously, to the biliary tree has been investigated in this paper.
Journal ArticleDOI
Primary sclerosing cholangitis - a comprehensive review.
TL;DR: A comprehensive review of the status of the PSC field is provided, emphasise developments related to patient stratification and disease behaviour, and provides an overview of management options from a practical, patient-centered perspective.
Journal ArticleDOI
ACG Clinical Guideline: Primary Sclerosing Cholangitis.
TL;DR: Primary sclerosing cholangitis is a chronic cholestatic liver disease that can shorten life and may require liver transplantation and ursodeoxycholic acid is used by many on an empirical basis.
Journal ArticleDOI
Patient Age, Sex, and Inflammatory Bowel Disease Phenotype Associate With Course of Primary Sclerosing Cholangitis
Tobias J. Weismüller,Tobias J. Weismüller,Palak J. Trivedi,Annika Bergquist,Mohamad Imam,Mohamad Imam,Henrike Lenzen,Cyriel Y. Ponsioen,Kristian Holm,Daniel Gotthardt,Martti Färkkilä,Hanns-Ulrich Marschall,Douglas Thorburn,Rinse K. Weersma,Johan Fevery,Tobias Mueller,Olivier Chazouillères,Kornelius Schulze,Konstantinos N. Lazaridis,Sven Almer,Stephen P. Pereira,Cynthia Levy,Andrew Mason,Sigrid Næss,Sigrid Næss,Christopher L. Bowlus,Annarosa Floreani,Emina Halilbasic,Kidist K. Yimam,Piotr Milkiewicz,Piotr Milkiewicz,Ulrich Beuers,Dep Huynh,Albert Parés,Christine N. Manser,George N. Dalekos,Bertus Eksteen,Pietro Invernizzi,Christoph P. Berg,Gabi I. Kirchner,Christoph Sarrazin,Vincent Zimmer,Luca Fabris,Felix Braun,Marco Marzioni,Brian D. Juran,Karouk Said,Christian Rupp,Kalle Jokelainen,Maria Benito de Valle,Francesca Saffioti,Angela Cheung,Michael Trauner,Christoph Schramm,Roger W. Chapman,Roger W. Chapman,Tom H. Karlsen,Tom H. Karlsen,Erik Schrumpf,Erik Schrumpf,Christian P. Strassburg,Michael P. Manns,Keith D. Lindor,Keith D. Lindor,Gideon M. Hirschfield,Bettina E. Hansen,Bettina E. Hansen,Bettina E. Hansen,Kirsten Muri Boberg,Kirsten Muri Boberg +69 more
TL;DR: In an analysis of data from individual patients with PSC worldwide, significant variation in clinical course associated with age at diagnosis, sex, and ductal and IBD subtypes is found.
Journal ArticleDOI
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis
Jimmy Z. Liu,Johannes R. Hov,Trine Folseraas,Trine Folseraas,Eva Ellinghaus,Simon M. Rushbrook,Nadezhda Tsankova Doncheva,Ole A. Andreassen,Ole A. Andreassen,Rinse K. Weersma,Tobias J. Weismüller,Bertus Eksteen,Pietro Invernizzi,Gideon M. Hirschfield,Gideon M. Hirschfield,Daniel Gotthardt,Albert Parés,David Ellinghaus,Tejas Shah,Brian D. Juran,Piotr Milkiewicz,Christian Rust,Christoph Schramm,Tobias Müller,Brijesh Srivastava,Georgios N. Dalekos,Markus M. Nöthen,Stefan Herms,Juliane Winkelmann,Mitja Mitrovic,Felix Braun,Cyriel Y. Ponsioen,Peter J. P. Croucher,Martina Sterneck,Andreas Teufel,Andrew Mason,Janna Saarela,Virpi Leppa,Ruslan Dorfman,Domenico Alvaro,Annarosa Floreani,Suna Onengut-Gumuscu,Stephen S. Rich,Wesley K. Thompson,Andrew J. Schork,Sigrid Næss,Sigrid Næss,Ingo Thomsen,Gabriele Mayr,Inke R. König,Kristian Hveem,Isabelle Cleynen,Isabelle Cleynen,Javier Gutierrez-Achury,Isis Ricaño-Ponce,David A. van Heel,Einar Björnsson,Richard Sandford,Peter R. Durie,Espen Melum,Espen Melum,Morten H. Vatn,Morten H. Vatn,Morten H. Vatn,Mark S. Silverberg,Richard H. Duerr,Leonid Padyukov,Stephan Brand,Miquel Sans,Vito Annese,Jean-Paul Achkar,Jean-Paul Achkar,Kirsten Muri Boberg,Kirsten Muri Boberg,Hanns-Ulrich Marschall,Olivier Chazouillères,Christopher L. Bowlus,Cisca Wijmenga,Erik Schrumpf,Erik Schrumpf,Severine Vermeire,Mario Albrecht,John D. Rioux,John D. Rioux,Graeme J.M. Alexander,Annika Bergquist,Judy H. Cho,Stefan Schreiber,Michael P. Manns,Martti Färkkilä,Anders M. Dale,Roger W. Chapman,Konstantinos N. Lazaridis,Andre Franke,Carl A. Anderson,Tom H. Karlsen +95 more
TL;DR: This analysis compared 3,789 PSC cases of European ancestry to 25,079 population controls across 130,422 SNPs genotyped using the Immunochip to identify 12 genome-wide significant associations outside the human leukocyte antigen (HLA) complex, 9 of which were new, increasing the number of known PSC risk loci to 16.
References
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PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
Shaun Purcell,Shaun Purcell,Benjamin M. Neale,Benjamin M. Neale,Kathe Todd-Brown,Lori Thomas,Manuel A. R. Ferreira,David Bender,David Bender,Julian Maller,Julian Maller,Pamela Sklar,Pamela Sklar,Paul I.W. de Bakker,Paul I.W. de Bakker,Mark J. Daly,Mark J. Daly,Pak C. Sham +17 more
TL;DR: This work introduces PLINK, an open-source C/C++ WGAS tool set, and describes the five main domains of function: data management, summary statistics, population stratification, association analysis, and identity-by-descent estimation, which focuses on the estimation and use of identity- by-state and identity/descent information in the context of population-based whole-genome studies.
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Alkes L. Price,Alkes L. Price,Nick Patterson,Robert M. Plenge,Robert M. Plenge,Michael E. Weinblatt,Nancy A. Shadick,David Reich,David Reich +8 more
TL;DR: This work describes a method that enables explicit detection and correction of population stratification on a genome-wide scale and uses principal components analysis to explicitly model ancestry differences between cases and controls.
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Genomic control for association studies.
Bernie Devlin,Kathryn Roeder +1 more
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Classification of inflammatory bowel disease.
TL;DR: Infection, ischaemia, physical damage, or specific immunologic sensitivity should be excluded as far as possible before a diagnosis of non-specific inflammatory bowel disease is made.
Journal ArticleDOI
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Carl A. Anderson,Gabrielle Boucher,Charlie W. Lees,Andre Franke,Mauro D'Amato,Kent D. Taylor,James Lee,Philippe Goyette,Marcin Imielinski,Anna Latiano,Caroline Lagacé,Regan Scott,Leila Amininejad,Suzannah Bumpstead,Leonard Baidoo,Robert N. Baldassano,Murray L. Barclay,Theodore M. Bayless,Stephan Brand,Carsten Büning,Jean-Frederic Colombel,Lee A. Denson,Martine De Vos,Marla Dubinsky,Cathryn Edwards,David Ellinghaus,Rudolf S N Fehrmann,James A B Floyd,Timothy H. Florin,Denis Franchimont,Lude Franke,Michel Georges,Jürgen Glas,Nicole L. Glazer,Stephen L. Guthery,Talin Haritunians,Nicholas K. Hayward,Jean-Pierre Hugot,Gilles Jobin,Debby Laukens,Ian C. Lawrance,Marc Lémann,Arie Levine,Cécile Libioulle,Edouard Louis,Dermot P.B. McGovern,Monica Milla,Grant W. Montgomery,Katherine I. Morley,Craig Mowat,Aylwin Ng,William G. Newman,Roel A. Ophoff,Laura Papi,Orazio Palmieri,Laurent Peyrin-Biroulet,Julián Panés,Anne M. Phillips,Natalie J. Prescott,Deborah D. Proctor,Rebecca L. Roberts,Richard K Russell,Paul Rutgeerts,Jeremy D. Sanderson,Miquel Sans,Philip Schumm,Frank Seibold,Yashoda Sharma,Lisa A. Simms,Mark Seielstad,Mark Seielstad,A. Hillary Steinhart,Stephan R. Targan,Leonard H. van den Berg,Morten H. Vatn,Hein W. Verspaget,Thomas D. Walters,Cisca Wijmenga,David C. Wilson,Harm-Jan Westra,Ramnik J. Xavier,Zhen Zhen Zhao,Cyriel Y. Ponsioen,Vibeke Andersen,Leif Törkvist,Maria Gazouli,Nicholas P. Anagnou,Tom H. Karlsen,Limas Kupčinskas,Jurgita Sventoraityte,John C. Mansfield,Subra Kugathasan,Mark S. Silverberg,Jonas Halfvarson,Jerome I. Rotter,Christopher G. Mathew,Anne M. Griffiths,Richard B. Gearry,Tariq Ahmad,Steven R. Brant,Mathias Chamaillard,Jack Satsangi,Judy H. Cho,Stefan Schreiber,Mark J. Daly,Jeffrey C. Barrett,Miles Parkes,Vito Annese,Hakon Hakonarson,Graham L. Radford-Smith,Richard H. Duerr,Severine Vermeire,Rinse K. Weersma,John D. Rioux +113 more
TL;DR: A meta-analysis of six ulcerative colitis genome-wide association study datasets found many candidate genes that provide potentially important insights into disease pathogenesis, including IL1R2, IL8RA-IL8RB, IL7R, IL12B, DAP, PRDM1, JAK2, IRF5, GNA12 and LSP1.
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