Literature DB >> 19915572

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.

Jeffrey C Barrett, James C Lee, Charles W Lees, Natalie J Prescott, Carl A Anderson, Anne Phillips, Emma Wesley, Kirstie Parnell, Hu Zhang, Hazel Drummond, Elaine R Nimmo, Dunecan Massey, Kasia Blaszczyk, Timothy Elliott, Lynn Cotterill, Helen Dallal, Alan J Lobo, Craig Mowat, Jeremy D Sanderson, Derek P Jewell, William G Newman, Cathryn Edwards, Tariq Ahmad, John C Mansfield, Jack Satsangi, Miles Parkes, Christopher G Mathew, Peter Donnelly, Leena Peltonen, Jenefer M Blackwell, Elvira Bramon, Matthew A Brown, Juan P Casas, Aiden Corvin, Nicholas Craddock, Panos Deloukas, Audrey Duncanson, Janusz Jankowski, Hugh S Markus, Christopher G Mathew, Mark I McCarthy, Colin N A Palmer, Robert Plomin, Anna Rautanen, Stephen J Sawcer, Nilesh Samani, Richard C Trembath, Anath C Viswanathan, Nicholas Wood, Chris C A Spencer, Jeffrey C Barrett, Céline Bellenguez, Daniel Davison, Colin Freeman, Amy Strange, Peter Donnelly, Cordelia Langford, Sarah E Hunt, Sarah Edkins, Rhian Gwilliam, Hannah Blackburn, Suzannah J Bumpstead, Serge Dronov, Matthew Gillman, Emma Gray, Naomi Hammond, Alagurevathi Jayakumar, Owen T McCann, Jennifer Liddle, Marc L Perez, Simon C Potter, Radhi Ravindrarajah, Michelle Ricketts, Matthew Waller, Paul Weston, Sara Widaa, Pamela Whittaker, Panos Deloukas, Leena Peltonen, Christopher G Mathew, Jenefer M Blackwell, Matthew A Brown, Aiden Corvin, Mark I McCarthy, Chris C A Spencer, Antony P Attwood, Jonathan Stephens, Jennifer Sambrook, Willem H Ouwehand, Wendy L McArdle, Susan M Ring, David P Strachan.   

Abstract

Ulcerative colitis is a common form of inflammatory bowel disease with a complex etiology. As part of the Wellcome Trust Case Control Consortium 2, we performed a genome-wide association scan for ulcerative colitis in 2,361 cases and 5,417 controls. Loci showing evidence of association at P < 1 x 10(-5) were followed up by genotyping in an independent set of 2,321 cases and 4,818 controls. We find genome-wide significant evidence of association at three new loci, each containing at least one biologically relevant candidate gene, on chromosomes 20q13 (HNF4A; P = 3.2 x 10(-17)), 16q22 (CDH1 and CDH3; P = 2.8 x 10(-8)) and 7q31 (LAMB1; P = 3.0 x 10(-8)). Of note, CDH1 has recently been associated with susceptibility to colorectal cancer, an established complication of longstanding ulcerative colitis. The new associations suggest that changes in the integrity of the intestinal epithelial barrier may contribute to the pathogenesis of ulcerative colitis.

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Year:  2009        PMID: 19915572      PMCID: PMC2812019          DOI: 10.1038/ng.483

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


  34 in total

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Journal:  Inflamm Bowel Dis       Date:  2008-07       Impact factor: 5.325

2.  PLINK: a tool set for whole-genome association and population-based linkage analyses.

Authors:  Shaun Purcell; Benjamin Neale; Kathe Todd-Brown; Lori Thomas; Manuel A R Ferreira; David Bender; Julian Maller; Pamela Sklar; Paul I W de Bakker; Mark J Daly; Pak C Sham
Journal:  Am J Hum Genet       Date:  2007-07-25       Impact factor: 11.025

3.  Polymorphisms in E-cadherin (CDH1) result in a mis-localised cytoplasmic protein that is associated with Crohn's disease.

Authors:  A M Muise; T D Walters; W K Glowacka; A M Griffiths; B-Y Ngan; H Lan; W Xu; M S Silverberg; D Rotin
Journal:  Gut       Date:  2009-04-26       Impact factor: 23.059

4.  Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.

Authors:  Sheila A Fisher; Mark Tremelling; Carl A Anderson; Rhian Gwilliam; Suzannah Bumpstead; Natalie J Prescott; Elaine R Nimmo; Dunecan Massey; Carlo Berzuini; Christopher Johnson; Jeffrey C Barrett; Fraser R Cummings; Hazel Drummond; Charlie W Lees; Clive M Onnie; Catherine E Hanson; Katarzyna Blaszczyk; Mike Inouye; Philip Ewels; Radhi Ravindrarajah; Andrew Keniry; Sarah Hunt; Martyn Carter; Nick Watkins; Willem Ouwehand; Cathryn M Lewis; Lon Cardon; Alan Lobo; Alastair Forbes; Jeremy Sanderson; Derek P Jewell; John C Mansfield; Panos Deloukas; Christopher G Mathew; Miles Parkes; Jack Satsangi
Journal:  Nat Genet       Date:  2008-04-27       Impact factor: 38.330

5.  Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

Authors:  Miles Parkes; Jeffrey C Barrett; Natalie J Prescott; Mark Tremelling; Carl A Anderson; Sheila A Fisher; Roland G Roberts; Elaine R Nimmo; Fraser R Cummings; Dianne Soars; Hazel Drummond; Charlie W Lees; Saud A Khawaja; Richard Bagnall; Denis A Burke; Catherine E Todhunter; Tariq Ahmad; Clive M Onnie; Wendy McArdle; David Strachan; Graeme Bethel; Claire Bryan; Cathryn M Lewis; Panos Deloukas; Alastair Forbes; Jeremy Sanderson; Derek P Jewell; Jack Satsangi; John C Mansfield; Lon Cardon; Christopher G Mathew
Journal:  Nat Genet       Date:  2007-06-06       Impact factor: 38.330

6.  Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

Authors: 
Journal:  Nature       Date:  2007-06-07       Impact factor: 49.962

7.  Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies.

Authors:  Inês Barroso; Jian'an Luan; Eleanor Wheeler; Pamela Whittaker; Jon Wasson; Eleftheria Zeggini; Michael N Weedon; Sarah Hunt; Ranganath Venkatesh; Timothy M Frayling; Marcos Delgado; Rosalind J Neuman; Jinghua Zhao; Richard Sherva; Benjamin Glaser; Mark Walker; Graham Hitman; Mark I McCarthy; Andrew T Hattersley; M Alan Permutt; Nicholas J Wareham; Panagiotis Deloukas
Journal:  Diabetes       Date:  2008-08-26       Impact factor: 9.461

8.  Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

Authors:  Mark S Silverberg; Judy H Cho; John D Rioux; Dermot P B McGovern; Jing Wu; Vito Annese; Jean-Paul Achkar; Philippe Goyette; Regan Scott; Wei Xu; M Michael Barmada; Lambertus Klei; Mark J Daly; Clara Abraham; Theodore M Bayless; Fabrizio Bossa; Anne M Griffiths; Andrew F Ippoliti; Raymond G Lahaie; Anna Latiano; Pierre Paré; Deborah D Proctor; Miguel D Regueiro; A Hillary Steinhart; Stephan R Targan; L Philip Schumm; Emily O Kistner; Annette T Lee; Peter K Gregersen; Jerome I Rotter; Steven R Brant; Kent D Taylor; Kathryn Roeder; Richard H Duerr
Journal:  Nat Genet       Date:  2009-01-04       Impact factor: 38.330

9.  Common variants at 30 loci contribute to polygenic dyslipidemia.

Authors:  Sekar Kathiresan; Cristen J Willer; Gina M Peloso; Serkalem Demissie; Kiran Musunuru; Eric E Schadt; Lee Kaplan; Derrick Bennett; Yun Li; Toshiko Tanaka; Benjamin F Voight; Lori L Bonnycastle; Anne U Jackson; Gabriel Crawford; Aarti Surti; Candace Guiducci; Noel P Burtt; Sarah Parish; Robert Clarke; Diana Zelenika; Kari A Kubalanza; Mario A Morken; Laura J Scott; Heather M Stringham; Pilar Galan; Amy J Swift; Johanna Kuusisto; Richard N Bergman; Jouko Sundvall; Markku Laakso; Luigi Ferrucci; Paul Scheet; Serena Sanna; Manuela Uda; Qiong Yang; Kathryn L Lunetta; Josée Dupuis; Paul I W de Bakker; Christopher J O'Donnell; John C Chambers; Jaspal S Kooner; Serge Hercberg; Pierre Meneton; Edward G Lakatta; Angelo Scuteri; David Schlessinger; Jaakko Tuomilehto; Francis S Collins; Leif Groop; David Altshuler; Rory Collins; G Mark Lathrop; Olle Melander; Veikko Salomaa; Leena Peltonen; Marju Orho-Melander; Jose M Ordovas; Michael Boehnke; Gonçalo R Abecasis; Karen L Mohlke; L Adrienne Cupples
Journal:  Nat Genet       Date:  2008-12-07       Impact factor: 38.330

10.  Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.

Authors:  Carl A Anderson; Dunecan C O Massey; Jeffrey C Barrett; Natalie J Prescott; Mark Tremelling; Sheila A Fisher; Rhian Gwilliam; Jemima Jacob; Elaine R Nimmo; Hazel Drummond; Charlie W Lees; Clive M Onnie; Catherine Hanson; Katarzyna Blaszczyk; Radhi Ravindrarajah; Sarah Hunt; Dhiraj Varma; Naomi Hammond; Gregory Lewis; Heather Attlesey; Nick Watkins; Willem Ouwehand; David Strachan; Wendy McArdle; Cathryn M Lewis; Alan Lobo; Jeremy Sanderson; Derek P Jewell; Panos Deloukas; John C Mansfield; Christopher G Mathew; Jack Satsangi; Miles Parkes
Journal:  Gastroenterology       Date:  2008-10-25       Impact factor: 22.682

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  255 in total

1.  Dissecting the genetics of complex inheritance: linkage disequilibrium mapping provides insight into Crohn disease.

Authors:  Heather Elding; Winston Lau; Dallas M Swallow; Nikolas Maniatis
Journal:  Am J Hum Genet       Date:  2011-12-09       Impact factor: 11.025

2.  Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis.

Authors:  Sharon A Chung; Gang Xie; Delnaz Roshandel; Richard Sherva; Jeffrey C Edberg; Megan Kravitz; Paul F Dellaripa; Gary S Hoffman; Alfred D Mahr; Philip Seo; Ulrich Specks; Robert F Spiera; E William St Clair; John H Stone; Robert M Plenge; Katherine A Siminovitch; Peter A Merkel; Paul A Monach
Journal:  Arthritis Rheum       Date:  2012-10

3.  Reduced diversity and imbalance of fecal microbiota in patients with ulcerative colitis.

Authors:  Hideyuki Nemoto; Keiko Kataoka; Hideki Ishikawa; Kazue Ikata; Hideki Arimochi; Teruaki Iwasaki; Yoshinari Ohnishi; Tomomi Kuwahara; Koji Yasutomo
Journal:  Dig Dis Sci       Date:  2012-05-24       Impact factor: 3.199

4.  HNF4α: a new biomarker in colon cancer?

Authors:  Karthikeyani Chellappa; Graham R Robertson; Frances M Sladek
Journal:  Biomark Med       Date:  2012-06       Impact factor: 2.851

5.  Evoker: a visualization tool for genotype intensity data.

Authors:  James A Morris; Joshua C Randall; Julian B Maller; Jeffrey C Barrett
Journal:  Bioinformatics       Date:  2010-05-27       Impact factor: 6.937

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Journal:  Curr Opin Pharmacol       Date:  2010-06-08       Impact factor: 5.547

7.  Whole-exome Sequence Analysis Implicates Rare Il17REL Variants in Familial and Sporadic Inflammatory Bowel Disease.

Authors:  Mark M Sasaki; Andrew D Skol; Eric A Hungate; Riyue Bao; Lei Huang; Stacy A Kahn; James M Allan; Steven R Brant; Dermot P B McGovern; Inga Peter; Mark S Silverberg; Judy H Cho; Barbara S Kirschner; Kenan Onel
Journal:  Inflamm Bowel Dis       Date:  2016-01       Impact factor: 5.325

Review 8.  The genomic landscape of human immune-mediated diseases.

Authors:  Xin Wu; Haiyan Chen; Huji Xu
Journal:  J Hum Genet       Date:  2015-08-20       Impact factor: 3.172

9.  What can we learn from inflammatory bowel disease in developing countries?

Authors:  Sunny H Wong; Siew C Ng
Journal:  Curr Gastroenterol Rep       Date:  2013-03

10.  A cross-ethnic survey of CFB and SLC44A4, Indian ulcerative colitis GWAS hits, underscores their potential role in disease susceptibility.

Authors:  Aditi Gupta; Garima Juyal; Ajit Sood; Vandana Midha; Keiko Yamazaki; Arnau Vich Vila; Motohiro Esaki; Toshiyuki Matsui; Atsushi Takahashi; Michiaki Kubo; Rinse K Weersma; B K Thelma
Journal:  Eur J Hum Genet       Date:  2016-10-19       Impact factor: 4.246

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