IL-23 receptor gene rs7517847 and rs1004819 SNPs in ulcerative colitis

Iranian Journal of Immunology

Volumn 9, Issue 2, 2012, Pages 128-135

  Hayatbakhsh, Mohammad Mahdi ^a   Zahedi, Mohammad Javad ^a   Shafiepour, Mohsen ^a   Nikpoor, Amin Reza ^c   Mohammadi, Mojgan ^b,c  

^a KERMAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b KERMAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c KERMAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

IL 23R; rs1004819; rs7517847; Ulcerative colitis

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD; CONTROLLED STUDY; DEFECATION; DISEASE ASSOCIATION; DISEASE SEVERITY; FECES; FEMALE; GENE; GENOTYPE; HUMAN; INTERLEUKIN 23 RECEPTOR GENE; IRAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; ULCERATIVE COLITIS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; COLITIS, ULCERATIVE; DNA MUTATIONAL ANALYSIS; ENDOSCOPY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IRAN; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, INTERLEUKIN; YOUNG ADULT;

EID: 84871861262     PISSN: 17351383     EISSN: 1735367X     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Hugot JP Chamaillard M Zouali H Lesage S Cézard JP Belaiche J Almer S Tysk C O'Morain CA Gassull M Binder V Finkel Y Cortot A Modigliani R Laurent-Puig P Gower-Rousseau C Macry J Colombel JF Sahbatou M Thomas G. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001;411(6837):599-603.
2. Reinhard C Rioux JD. Role of the IBD5 susceptibility locus in the inflammatory bowel diseases. Inflamm Bowel Dis. 2006;12(3):227-38
3. Yamazaki K, McGovern D, Ragoussis J, Paolucci M, Butler H, Jewell D, Cardon L, Takazoe M, Tanaka T, Ichimori T, Saito S, Sekine A, Iida A, Takahashi A, Tsunoda T, Lathrop M, Nakamura Y. Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum Mol Genet. 2005;14(22):3499-506.
4. Ho GT Nimmo ER Tenesa A Fennell J Drummond H Mowat C Arnott ID Satsangi J. Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitis. Gastroenterology. 2005;128(2):288-96
5. D Franchimont S Vermeire H El Housni M Pierik K Van Steen T Gustot E Quertinmont M Abramowicz A Van Gossum J Devière P Rutgeerts. Deficient host-bacteria interactions in inflammatory bowel disease? The toll-like receptor (TLR)-4 Asp299gly polymorphism is associated with Crohn's disease and ulcerative colitis. Gut. 2004;53(7):987-92
6. Stoll M, Corneliussen B, Costello C M, Waetzig G H, Mellgard B, Koch W A, Rosenstiel P, Albrecht M, Croucher P J, Seegert D, Nikolaus S, Hampe J, Lengauer T, Pierrou S, Foelsch U R, Mathew C G, Lagerstrom-Fermer M, Schreiber S Genetic variation in DLG5 is associated with inflammatory bowel disease. Nat Genet.2004;36(5):476-80.
7. Cardon LR Bell JI. Association study designs for complex diseases. Nat Rev Genet. 2001;2(2):91-9.
8. Duerr R, H Taylor K D, Brant S R, Rioux J D, Silverberg M S, Daly M J, Steinhart A H, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta L W, Kistner E O, Schumm L P, Lee A T, Gregersen P K, Barmada M M, Rotter J I, Nicolae D L, Cho J H. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006;314:1461-3.
9. Dubinsky M C, Wang D, Picornell Y, Wrobel I, Katzir L, Quiros A, Dutridge D, Wahbeh G, Silber G, Bahar R, Mengesha E, Targan S R, Taylor K D, Rotter J I. IL-23 receptor (IL-23R) gene protects against pediatric Crohn's disease. Inflamm Bowel Dis 2007;13:511-5.
10. Jürgen Glas Julia Seiderer Martin Wetzke Astrid Konrad Helga-Paula Török Silke Schmechel Laurian Tonenchi Christine Grassl Julia Dambacher Simone Pfennig Kerstin Maier Thomas Griga Wolfram Klein Jörg T. Epplen Uwe Schiemann Christian Folwaczny Peter Lohse Burkhard Göke Thomas Ochsenkühn Bertram Müller-Myhsok Matthias Folwaczny Thomas Mussack Stephan Brand. rs1004819 is the main disease associated IL-23R variant in German Crohn's disease patients: combined analysis of IL-23R CARD15 and OCTN1/2 variants. PLoS ONE. 2007;9:e819.
11. Yamazaki K. Onouchi Y. Takazoe M. Kubo M. Nakamura Y. Hata A. Association analysis of genetic variants in IL-23R ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients. J Hum Genet. 2007;52:575-583
12. Neurath MF. IL-23: a master regulator in Crohn disease. Nat Med 2007;13:26-8.
13. Schmechel S. Konrad A. Diegelmann J. Glas J. Wetzke M. Paschos E. Lohse P. Goke B. Brand S. Linking genetic susceptibility to Crohn's disease with Th17 cell function: IL-22 serum levels are increased in Crohn's disease and correlate with disease activity and IL23R genotype status. Inflamm Bowel Dis. 2008; 14: 204-212
14. Tremelling M. Cummings F. Fisher S. A. Mansfield J. Gwilliam R. Keniry A. Nimmo E. R. Drummond H. Onnie C. M. Prescott N. J. Sanderson J. Bredin F. Berzuini C. Forbes A. Lewis C. M. Cardon L. Deloukas P. Jewell D. Mathew C. G. Parkes M. Satsangi J. IL-23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease. Gastroenterology 2007;132(5):1657-1664
15. Hampe J. Schreiber S. Shaw S. H. Lau K. F. Bridger S. Macpherson A. J. Cardon L. R. Sakul H. Harris T. J. Buckler A. Hall J. Stokkers P.van Deventer S. J. Nurnberg P. Mirza M. M. Lee J. C. Lennard-Jones J. E. Mathew C. G. Curran M. E, A genome wide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort. Am J Hum Genet 1999; 64:808-16.
16. Márquez A Mendoza JL Taxonera C Díaz-Rubio M De La Concha EG Urcelay E Martínez A. IL23R and IL12B polymorphisms in Spanish IBD patients: no evidence of interaction. Inflamm Bowel Dis. 2008;14(9):1192-6.
17. Cummings J R, Ahmad T, Geremia A, Beckly J, Cooney R, Hancock L, Pathan S, Guo C, Cardon L R, Jewell D P. Contribution of the Novel Inflammatory Bowel Disease Gene IL23R to Disease Susceptibility and Phenotype Inflamm Bowel Dis. 2007;13:1063-68
18. Kornbluth A, DB, Sachar, Ulcerative colitis practice guidelines in adults: American College Of Gastroenterology Practice Parameters Committee. Am J Gastroenterol. 2010; 105:501-23
19. Sáfrány E Pazár B Csöngei V Járomi L Polgár N Sipeky C Horváth IF Zeher M Poór G Melegh B. Variants of the IL23R Gene are Associated with Ankylosing Spondylitis but not with Sjögren Syndrome in Hungarian Population Samples. Scand J Immunol. 2009; 70:68-74.
20. Li Y Mao Q Shen L Tian Y Yu C Zhu WM Li JS. Interleukin-23 receptor genetic polymorphisms and Crohn's disease susceptibility: a meta-analysis. Inflamm Res. 2010; 59:607-14.