Literature DB >> 18438406

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

Sheila A Fisher1, 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.   

Abstract

We report results of a nonsynonymous SNP scan for ulcerative colitis and identify a previously unknown susceptibility locus at ECM1. We also show that several risk loci are common to ulcerative colitis and Crohn's disease (IL23R, IL12B, HLA, NKX2-3 and MST1), whereas autophagy genes ATG16L1 and IRGM, along with NOD2 (also known as CARD15), are specific for Crohn's disease. These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases.

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Year:  2008        PMID: 18438406      PMCID: PMC2719289          DOI: 10.1038/ng.145

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


  15 in total

1.  HLA-DR and -DQ phenotypes in inflammatory bowel disease: a meta-analysis.

Authors:  P C Stokkers; P H Reitsma; G N Tytgat; S J van Deventer
Journal:  Gut       Date:  1999-09       Impact factor: 23.059

Review 2.  Betting odds and genetic associations.

Authors:  Duncan C Thomas; David G Clayton
Journal:  J Natl Cancer Inst       Date:  2004-03-17       Impact factor: 13.506

3.  A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.

Authors:  Richard H Duerr; Kent D Taylor; Steven R Brant; John D Rioux; Mark S Silverberg; Mark J Daly; A Hillary Steinhart; Clara Abraham; Miguel Regueiro; Anne Griffiths; Themistocles Dassopoulos; Alain Bitton; Huiying Yang; Stephan Targan; Lisa Wu Datta; Emily O Kistner; L Philip Schumm; Annette T Lee; Peter K Gregersen; M Michael Barmada; Jerome I Rotter; Dan L Nicolae; Judy H Cho
Journal:  Science       Date:  2006-10-26       Impact factor: 47.728

4.  Contribution of genes of the major histocompatibility complex to susceptibility and disease phenotype in inflammatory bowel disease.

Authors:  J Satsangi; K I Welsh; M Bunce; C Julier; J M Farrant; J I Bell; D P Jewell
Journal:  Lancet       Date:  1996-05-04       Impact factor: 79.321

5.  A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.

Authors:  Michele Cargill; Steven J Schrodi; Monica Chang; Veronica E Garcia; Rhonda Brandon; Kristina P Callis; Nori Matsunami; Kristin G Ardlie; Daniel Civello; Joseph J Catanese; Diane U Leong; Jackie M Panko; Linda B McAllister; Christopher B Hansen; Jason Papenfuss; Stephen M Prescott; Thomas J White; Mark F Leppert; Gerald G Krueger; Ann B Begovich
Journal:  Am J Hum Genet       Date:  2006-12-21       Impact factor: 11.025

6.  Macrophage-stimulating protein, the ligand for the stem cell-derived tyrosine kinase/RON receptor tyrosine kinase, inhibits IL-12 production by primary peritoneal macrophages stimulated with IFN-gamma and lipopolysaccharide.

Authors:  Amy C Morrison; Caleph B Wilson; Manujendra Ray; Pamela H Correll
Journal:  J Immunol       Date:  2004-02-01       Impact factor: 5.422

Review 7.  The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1.

Authors:  Ien Chan; Lu Liu; Takahiro Hamada; Gomathy Sethuraman; John A McGrath
Journal:  Exp Dermatol       Date:  2007-11       Impact factor: 3.960

8.  Butyrophilin-like 2 gene is associated with ulcerative colitis in the Japanese under strong linkage disequilibrium with HLA-DRB1*1502.

Authors:  A Mochida; Y Kinouchi; K Negoro; S Takahashi; S Takagi; E Nomura; Y Kakuta; M Tosa; T Shimosegawa
Journal:  Tissue Antigens       Date:  2007-08

9.  Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.

Authors:  Paul R Burton; David G Clayton; Lon R Cardon; Nick Craddock; Panos Deloukas; Audrey Duncanson; Dominic P Kwiatkowski; Mark I McCarthy; Willem H Ouwehand; Nilesh J Samani; John A Todd; Peter Donnelly; Jeffrey C Barrett; Dan Davison; Doug Easton; David M Evans; Hin-Tak Leung; Jonathan L Marchini; Andrew P Morris; Chris C A Spencer; Martin D Tobin; Antony P Attwood; James P Boorman; Barbara Cant; Ursula Everson; Judith M Hussey; Jennifer D Jolley; Alexandra S Knight; Kerstin Koch; Elizabeth Meech; Sarah Nutland; Christopher V Prowse; Helen E Stevens; Niall C Taylor; Graham R Walters; Neil M Walker; Nicholas A Watkins; Thilo Winzer; Richard W Jones; Wendy L McArdle; Susan M Ring; David P Strachan; Marcus Pembrey; Gerome Breen; David St Clair; Sian Caesar; Katharine Gordon-Smith; Lisa Jones; Christine Fraser; Elaine K Green; Detelina Grozeva; Marian L Hamshere; Peter A Holmans; Ian R Jones; George Kirov; Valentina Moskivina; Ivan Nikolov; Michael C O'Donovan; Michael J Owen; David A Collier; Amanda Elkin; Anne Farmer; Richard Williamson; Peter McGuffin; Allan H Young; I Nicol Ferrier; Stephen G Ball; Anthony J Balmforth; Jennifer H Barrett; Timothy D Bishop; Mark M Iles; Azhar Maqbool; Nadira Yuldasheva; Alistair S Hall; Peter S Braund; Richard J Dixon; Massimo Mangino; Suzanne Stevens; John R Thompson; Francesca Bredin; Mark Tremelling; Miles Parkes; Hazel Drummond; Charles W Lees; Elaine R Nimmo; Jack Satsangi; Sheila A Fisher; Alastair Forbes; Cathryn M Lewis; Clive M Onnie; Natalie J Prescott; Jeremy Sanderson; Christopher G Matthew; Jamie Barbour; M Khalid Mohiuddin; Catherine E Todhunter; John C Mansfield; Tariq Ahmad; Fraser R Cummings; Derek P Jewell; John Webster; Morris J Brown; Mark G Lathrop; John Connell; Anna Dominiczak; Carolina A Braga Marcano; Beverley Burke; Richard Dobson; Johannie Gungadoo; Kate L Lee; Patricia B Munroe; Stephen J Newhouse; Abiodun Onipinla; Chris Wallace; Mingzhan Xue; Mark Caulfield; Martin Farrall; Anne Barton; Ian N Bruce; Hannah Donovan; Steve Eyre; Paul D Gilbert; Samantha L Hilder; Anne M Hinks; Sally L John; Catherine Potter; Alan J Silman; Deborah P M Symmons; Wendy Thomson; Jane Worthington; David B Dunger; Barry Widmer; Timothy M Frayling; Rachel M Freathy; Hana Lango; John R B Perry; Beverley M Shields; Michael N Weedon; Andrew T Hattersley; Graham A Hitman; Mark Walker; Kate S Elliott; Christopher J Groves; Cecilia M Lindgren; Nigel W Rayner; Nicolas J Timpson; Eleftheria Zeggini; Melanie Newport; Giorgio Sirugo; Emily Lyons; Fredrik Vannberg; Adrian V S Hill; Linda A Bradbury; Claire Farrar; Jennifer J Pointon; Paul Wordsworth; Matthew A Brown; Jayne A Franklyn; Joanne M Heward; Matthew J Simmonds; Stephen C L Gough; Sheila Seal; Michael R Stratton; Nazneen Rahman; Maria Ban; An Goris; Stephen J Sawcer; Alastair Compston; David Conway; Muminatou Jallow; Melanie Newport; Giorgio Sirugo; Kirk A Rockett; Suzannah J Bumpstead; Amy Chaney; Kate Downes; Mohammed J R Ghori; Rhian Gwilliam; Sarah E Hunt; Michael Inouye; Andrew Keniry; Emma King; Ralph McGinnis; Simon Potter; Rathi Ravindrarajah; Pamela Whittaker; Claire Widden; David Withers; Niall J Cardin; Dan Davison; Teresa Ferreira; Joanne Pereira-Gale; Ingeleif B Hallgrimsdo'ttir; Bryan N Howie; Zhan Su; Yik Ying Teo; Damjan Vukcevic; David Bentley; Matthew A Brown; Alastair Compston; Martin Farrall; Alistair S Hall; Andrew T Hattersley; Adrian V S Hill; Miles Parkes; Marcus Pembrey; Michael R Stratton; Sarah L Mitchell; Paul R Newby; Oliver J Brand; Jackie Carr-Smith; Simon H S Pearce; R McGinnis; A Keniry; P Deloukas; John D Reveille; Xiaodong Zhou; Anne-Marie Sims; Alison Dowling; Jacqueline Taylor; Tracy Doan; John C Davis; Laurie Savage; Michael M Ward; Thomas L Learch; Michael H Weisman; Mathew Brown
Journal:  Nat Genet       Date:  2007-10-21       Impact factor: 38.330

10.  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

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  160 in total

1.  Current and future role of serogenomics in ulcerative colitis.

Authors:  Mark H Flasar; Raymond K Cross; David B Doman
Journal:  Gastroenterol Hepatol (N Y)       Date:  2011-11

Review 2.  Type I IFN-mediated regulation of IL-1 production in inflammatory disorders.

Authors:  Kristina Ludigs; Valeriy Parfenov; Renaud A Du Pasquier; Greta Guarda
Journal:  Cell Mol Life Sci       Date:  2012-04-24       Impact factor: 9.261

Review 3.  Crohn disease: a current perspective on genetics, autophagy and immunity.

Authors:  Thaddeus S Stappenbeck; John D Rioux; Atsushi Mizoguchi; Tatsuya Saitoh; Alan Huett; Arlette Darfeuille-Michaud; Tom Wileman; Noboru Mizushima; Simon Carding; Shizuo Akira; Miles Parkes; Ramnik J Xavier
Journal:  Autophagy       Date:  2011-04-01       Impact factor: 16.016

Review 4.  Role of the gut microbiota in defining human health.

Authors:  Kei E Fujimura; Nicole A Slusher; Michael D Cabana; Susan V Lynch
Journal:  Expert Rev Anti Infect Ther       Date:  2010-04       Impact factor: 5.091

5.  Confirmation of an association between rs6822844 at the Il2-Il21 region and multiple autoimmune diseases: evidence of a general susceptibility locus.

Authors:  Amit K Maiti; Xana Kim-Howard; Parvathi Viswanathan; Laura Guillén; Adriana Rojas-Villarraga; Harshal Deshmukh; Haner Direskeneli; Güher Saruhan-Direskeneli; Carlos Cañas; Gabriel J Tobön; Amr H Sawalha; Alejandra C Cherñavsky; Juan-Manuel Anaya; Swapan K Nath
Journal:  Arthritis Rheum       Date:  2010-02

6.  Distinct and overlapping genetic loci in Crohn's disease and ulcerative colitis: correlations with pathogenesis.

Authors:  Matti Waterman; Wei Xu; Joanne M Stempak; Raquel Milgrom; Charles N Bernstein; Anne M Griffiths; Gordon R Greenberg; A Hillary Steinhart; Mark S Silverberg
Journal:  Inflamm Bowel Dis       Date:  2010-12-10       Impact factor: 5.325

7.  eQTL analysis links inflammatory bowel disease associated 1q21 locus to ECM1 gene.

Authors:  Katja Repnik; Uroš Potočnik
Journal:  J Appl Genet       Date:  2016-01-06       Impact factor: 3.240

8.  Dissecting GI phenotype-genotype relationships in GERD and dyspepsia: an SNP here and an SNP there!

Authors:  Janusz A Jankowski; Nicholas J Talley
Journal:  Am J Gastroenterol       Date:  2009-01-20       Impact factor: 10.864

9.  Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease.

Authors:  Marla C Dubinsky; Ling Mei; Madison Friedman; Tanvi Dhere; Talin Haritunians; Hakon Hakonarson; Cecilia Kim; Joseph Glessner; Stephan R Targan; Dermot P McGovern; Kent D Taylor; Jerome I Rotter
Journal:  Inflamm Bowel Dis       Date:  2010-08       Impact factor: 5.325

Review 10.  Insights into IBD Pathogenesis.

Authors:  David Q Shih; Stephan R Targan
Journal:  Curr Gastroenterol Rep       Date:  2009-12
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