Frequency of three common mutations of CARD15/NOD2 gene in Iranian IBD patients

Indian Journal of Gastroenterology

Volumn 27, Issue 1, 2008, Pages 8-11

  Derakhshan, Faramarz ^a   Naderi, Nosratollah ^a   Farnood, Alma ^a,d   Firouzi, Farzad ^a   Habibi, Manijeh ^a   Rezvany, Mohammad Reza ^b   Javeri, Arash ^a   Bahari, Ali ^c   Balaii, Hedieh ^a   Rad, Mahta Ghaffarzadeh ^a   Aghazadeh, Rahim ^a   Zali, Mohammad Reza ^a  

^a SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b SEMNAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c ZAHEDAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CARD15 GENE; COMPARATIVE STUDY; CONFIDENCE INTERVAL; CONTROLLED STUDY; CROHN DISEASE; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; HUMAN; IRRITABLE COLON; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; NOD2 GENE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK ASSESSMENT; TIME SERIES ANALYSIS; ULCERATIVE COLITIS;

ADULT; COLITIS, ULCERATIVE; CROHN DISEASE; FEMALE; HUMANS; INFLAMMATORY BOWEL DISEASES; IRAN; MALE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 45349098247     PISSN: 02548860     EISSN: 02548860     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Podolsky DK. Inflammatory bowel disease. N Engl J Med 2002;347:417-29.
2. Van Heel DA, Fisher SA, Kirby A, Daly MJ, Rioux JD, Lewis CM, Genome Scan Meta-Analysis Group of the IBD International Genetics Consortium. Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. Hum Mol Genet 2004;13:763-70.
3. Aghazadeh R, Zali MR, Bahari A, Amin K, Ghahghaie F, Firouzi F. Inflammatory bowel disease in Iran: a review of 457 cases. J Gastroenterol Hepatol 2005;20:1691-5.
4. Wild GE, Rioux JD. Genome scan analyses and positional cloning strategy in IBD: successes and limitations. Best Pract Res Clin Gastroenterol 2004;18:541-53.
5. Farnood A, Naderi N, Moghaddam SJ, Noorinayer B, Firouzi F, Aghazadeh R, et al. The frequency of C3435T MDR1 gene polymorphism in Iranian patients with ulcerative colitis. Int J Colorectal Dis 2007;22:999-1003.
6. Bonen DK, Cho JH. The genetics of inflammatory bowel disease. Gastroenterology 2003;124:521-36.
7. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411:599-603.
8. Ogura Y, Bonen D, Inohara N, Nicolae DL, Chen FF, Ramos R, et al. A frame shift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001;411:603-6.
9. Berrebi D, Maudinas R, Hugot JP, Chamaillard M, Chareyre F, et al. CARD15 gene over-expression in mononuclear and epithelial cells of the inflamed Crohn's disease colon. Gut 2003;52:840-6.
10. Bonen DK, Ogura Y, Nicolae DL, Inohara N, Saab L, Tanabe T, et al. Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopoly-saccharide and peptidoglycan. Gastroenterology 2003;124:140-6.
11. Hampe J, Cuthbert A, Croucher PJ, Mirza MM, Mascheretti S, Fisher S, et al. Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. Lancet 2001;357:1925-8.
12. Ahmad T, Armuzzi A, Bunce M, Mulcahy-Hawes K, Marshall SE, Orchard TR, et al. The molecular classification of the clinical manifestations of Crohn's disease. Gastroenterology 2002;122:854-66.
13. Inoue N, Tamura K, Kinouchi Y, Fukuda Y, Takahashi S, Ogura Y, et al. Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology 2002;123:86-91.
14. Croucher PJ, Mascheretti S, Hampe J, Huse K, Frenzel H, Stoll M, et al. Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations. Eur J Hum Genet 2003;11:6-16.
15. Heliö T, Halme L, Lappalainen M, Fodstad H, Paavola-Sakki P, Turunen U, et al. CARD15/NOD2 gene variants are associated with familially occurring and complicated forms of Crohn's disease. Gut 2003;52:558-62.
16. Lakatos L, Lakatos PL, Willheim-Polli C, Reinisch W, Ferenci P, Tulassay Z, et al. NOD2/CARD15 mutations and genotype-phenotype correlations in patients with Crohn's disease. Hungarian multicenter study. Orv Hetil 2004;145:1403-11.
17. Gazouli M, Mantzaris G, Kotsinas A, Zacharatos P, Papalambros E, Archimandritis A, et al. Association between polymorphisms in the Toll-like receptor 4, CD14, and CARD15 / NOD2 and inflammatory bowel disease in the Greek population. World J Gastroenterol 2005;11:681-5.
18. Buning C, Genschel J, Buhner S, Kruger S, Kling K, Dignass A, et al. Mutations in the NOD2/CARD15 gene in Crohn's disease are associated with ileocecal resection and are a risk factor for reoperation. Aliment Pharmacol Ther 2004;19:1073-8.
19. Vavassori P, Borgiani P, Biancone L, D'Apice MR, Blanco Gdel V, Vallo L, et al. CARD15 mutation analysis in an Italian population: Leu1007fsinsC but neither Arg702Trp nor Gly908Arg mutations are associated with Crohn's disease. Inflamm Bowel Dis 2004;10:116-21.
20. Ahmad T, Tamboli CP, Jewell DP, Colombel JF. Clinical relevance of advances in genetics and pharmacogenetics of IBD. Gastroenterology 2004;126:1533-49.