Literature DB >> 21151127

Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci.

Espen Melum1, Andre Franke, Christoph Schramm, Tobias J Weismüller, Daniel Nils Gotthardt, Felix A Offner, Brian D Juran, Jon K Laerdahl, Verena Labi, Einar Björnsson, Rinse K Weersma, Liesbet Henckaerts, Andreas Teufel, Christian Rust, Eva Ellinghaus, Tobias Balschun, Kirsten Muri Boberg, David Ellinghaus, Annika Bergquist, Peter Sauer, Euijung Ryu, Johannes Roksund Hov, Jochen Wedemeyer, Björn Lindkvist, Michael Wittig, Robert J Porte, Kristian Holm, Christian Gieger, H-Erich Wichmann, Pieter Stokkers, Cyriel Y Ponsioen, Heiko Runz, Adolf Stiehl, Cisca Wijmenga, Martina Sterneck, Severine Vermeire, Ulrich Beuers, Andreas Villunger, Erik Schrumpf, Konstantinos N Lazaridis, Michael P Manns, Stefan Schreiber, Tom H Karlsen.   

Abstract

Primary sclerosing cholangitis (PSC) is a chronic bile duct disease affecting 2.4-7.5% of individuals with inflammatory bowel disease. We performed a genome-wide association analysis of 2,466,182 SNPs in 715 individuals with PSC and 2,962 controls, followed by replication in 1,025 PSC cases and 2,174 controls. We detected non-HLA associations at rs3197999 in MST1 and rs6720394 near BCL2L11 (combined P = 1.1 × 10⁻¹⁶ and P = 4.1 × 10⁻⁸, respectively).

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Year:  2010        PMID: 21151127      PMCID: PMC4354850          DOI: 10.1038/ng.728

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  10 in total

Review 1.  The utility of genome-wide association studies in hepatology.

Authors:  Tom H Karlsen; Espen Melum; Andre Franke
Journal:  Hepatology       Date:  2010-05       Impact factor: 17.425

Review 2.  The role of BH3-only proteins in the immune system.

Authors:  Andreas Strasser
Journal:  Nat Rev Immunol       Date:  2005-03       Impact factor: 53.106

3.  Principal components analysis corrects for stratification in genome-wide association studies.

Authors:  Alkes L Price; Nick J Patterson; Robert M Plenge; Michael E Weinblatt; Nancy A Shadick; David Reich
Journal:  Nat Genet       Date:  2006-07-23       Impact factor: 38.330

Review 4.  Detecting shared pathogenesis from the shared genetics of immune-related diseases.

Authors:  Alexandra Zhernakova; Cleo C van Diemen; Cisca Wijmenga
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5.  Genome-wide association analysis in primary sclerosing cholangitis.

Authors:  Tom H Karlsen; Andre Franke; Espen Melum; Arthur Kaser; Johannes Roksund Hov; Tobias Balschun; Benedicte A Lie; Annika Bergquist; Christoph Schramm; Tobias J Weismüller; Daniel Gotthardt; Christian Rust; Eva E R Philipp; Teresa Fritz; Liesbet Henckaerts; Rinse K Weersma; Pieter Stokkers; Cyriel Y Ponsioen; Cisca Wijmenga; Martina Sterneck; Michael Nothnagel; Jochen Hampe; Andreas Teufel; Heiko Runz; Philip Rosenstiel; Adolf Stiehl; Severine Vermeire; Ulrich Beuers; Michael P Manns; Erik Schrumpf; Kirsten Muri Boberg; Stefan Schreiber
Journal:  Gastroenterology       Date:  2009-11-26       Impact factor: 22.682

6.  Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis.

Authors:  P Goyette; C Lefebvre; A Ng; S R Brant; J H Cho; R H Duerr; M S Silverberg; K D Taylor; A Latiano; G Aumais; C Deslandres; G Jobin; V Annese; M J Daly; R J Xavier; J D Rioux
Journal:  Mucosal Immunol       Date:  2008-01-16       Impact factor: 7.313

7.  Increased risk of primary sclerosing cholangitis and ulcerative colitis in first-degree relatives of patients with primary sclerosing cholangitis.

Authors:  Annika Bergquist; Scott M Montgomery; Shahram Bahmanyar; Rolf Olsson; Ake Danielsson; Stefan Lindgren; Hanne Prytz; Rolf Hultcrantz; L A R S Lööf; Hanna Sandberg-Gertzén; Sven Almer; Johan Askling; Anna Ehlin; Anders Ekbom
Journal:  Clin Gastroenterol Hepatol       Date:  2008-08       Impact factor: 11.382

8.  Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

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Journal:  N Engl J Med       Date:  2009-05-20       Impact factor: 91.245

Review 9.  Primary sclerosing cholangitis, inflammatory bowel disease, and colon cancer.

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Journal:  Semin Liver Dis       Date:  2006-02       Impact factor: 6.115

10.  Differential mechanisms in the pathogenesis of autoimmune cholangitis versus inflammatory bowel disease in interleukin-2Ralpha(-/-) mice.

Authors:  Willy Hsu; Weici Zhang; Koichi Tsuneyama; Yuki Moritoki; William M Ridgway; Aftab A Ansari; Ross L Coppel; Zhe-Xiong Lian; Ian Mackay; M Eric Gershwin
Journal:  Hepatology       Date:  2009-01       Impact factor: 17.425

  10 in total
  67 in total

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2.  Prolonged darkness reduces liver fibrosis in a mouse model of primary sclerosing cholangitis by miR-200b down-regulation.

Authors:  Nan Wu; Fanyin Meng; Tianhao Zhou; Yuyan Han; Lindsey Kennedy; Julie Venter; Heather Francis; Sharon DeMorrow; Paolo Onori; Pietro Invernizzi; Francesca Bernuzzi; Romina Mancinelli; Eugenio Gaudio; Antonio Franchitto; Shannon Glaser; Gianfranco Alpini
Journal:  FASEB J       Date:  2017-06-20       Impact factor: 5.191

Review 3.  Management of primary sclerosing cholangitis: conventions and controversies.

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Journal:  Can J Gastroenterol       Date:  2012-05       Impact factor: 3.522

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5.  GPR35 promotes glycolysis, proliferation, and oncogenic signaling by engaging with the sodium potassium pump.

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Review 6.  Tissue-specific effector functions of innate lymphoid cells.

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Review 7.  The genetics of complex cholestatic disorders.

Authors:  Gideon M Hirschfield; Roger W Chapman; Tom H Karlsen; Frank Lammert; Konstantinos N Lazaridis; Andrew L Mason
Journal:  Gastroenterology       Date:  2013-04-10       Impact factor: 22.682

Review 8.  Exploring the Pathogenic Role and Therapeutic Implications of Interleukin 2 in Autoimmune Hepatitis.

Authors:  Albert J Czaja
Journal:  Dig Dis Sci       Date:  2020-08-24       Impact factor: 3.199

Review 9.  Primary sclerosing cholangitis and the microbiota: current knowledge and perspectives on etiopathogenesis and emerging therapies.

Authors:  James H Tabibian; Steven P O'Hara; Keith D Lindor
Journal:  Scand J Gastroenterol       Date:  2014-07-03       Impact factor: 2.423

Review 10.  Genetics of Inflammatory Bowel Diseases.

Authors:  Dermot P B McGovern; Subra Kugathasan; Judy H Cho
Journal:  Gastroenterology       Date:  2015-08-07       Impact factor: 22.682

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