Gene polymorphisms - IBD predisposing factor and their association with clinical manifestation of the disease and pharmacotherapy;Genové polymorfismy jako predispoziční faktor IBD - Jejich vztah ke klinické manifestaci a farmakoterapii onemocnění

Ceska a Slovenska Gastroenterologie a Hepatologie

Volumn 63, Issue 6, 2009, Pages 265-274

  Bartošová, Ladislava ^a   Kolorz, Michal ^a   Hošek, Jan ^a   Dvořáčková, Dana ^a   Loučka, Peter ^a   Zbořil, Vladimir ^c   Bétovský, Marian ^b   Dítě, Petr ^c   Bartoš, Milan ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Fakultná Nemocnica S Poliklinikou Akademika L Dérera   (Slovakia)

^c MASARYK UNIVERSITY   (Czech Republic)

Author keywords

CCR5; Crohn's disease; Gene polymorphisms; ICAM 1; NOD2 CARD15; TPMT; Ulcerative colitis

Indexed keywords

AZATHIOPRINE; CASPASE RECRUITMENT DOMAIN PROTEIN 15; CHEMOKINE RECEPTOR CCR5; DNA; INTERCELLULAR ADHESION MOLECULE 1; PROTEIN; TPMT PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CONTROLLED STUDY; CROHN DISEASE; DISEASE PREDISPOSITION; DNA ISOLATION; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; LEUKOPENIA; MAJOR CLINICAL STUDY; MULTIPLEX POLYMERASE CHAIN REACTION; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; ULCERATIVE COLITIS;

EID: 75149122830     PISSN: 1213323X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in Nod2 associated with susceptibility to Crohn's disease. Nature 2001; 411: 603-606.
2. Hugot JP, Laurent-Pulg P, Gower-Rousseau C, Olson, JM, Lee JC, Beaugerie L, et al. Mapping of susceptibility locus for Crohn's disease on chromosome 16. Nature 1996; 379: 821-823.
3. 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.
4. Aldhous MC, Nimmo ER, Satsangi J. NOD2/ CARD 15 and the Paneth cell: another piece in the genetic jigsaw of inflammatory bowel disease. Gut 2003; 52: 1533-1535
5. Peeters H, Vander Cruyssen B, et al. Radiological sarcoiliitis, a hallmark of spondylitis, is linked with CARD 15 gene polymorphisms in patients with Crohn's disease. Ann Rheum Dis 2004; 63: 1131-1134.
6. Mathew ChG, Lewis CM. Genetics of inflammatory bowel disease: progress and prospects. Human Molecular Genetics 2004; 13: 161-168.
7. Wehkamp J, Harder J, Weichenthal M, et al. NOD2 (CARD 15) mutations in Crohn's disease are associated with diminished mucosal {alpha}-defensin expression. Gut 2004; 53: 1658-1664.
8. Hubbard AK, Rothlein R. Intercellular Adhesion Molecule-1 (ICAM-1) expression and cell signalling cascades. Free radical biology and medicine 2000; 28: 1379-1386.
9. Papa A, Pola R, Flex A, Danese S, Armuzzi A, et al. Prevalence of the K469E polymorphism of intercellular adhesion molecule 1 gene in Italian patients with inflammatory bowel disease. Dig Liver Dis 2004; 36: 528-532.
10. Nejentsev S, Laine AP, Simell O, Honen J. Intercellular adhesion molecule-1 (ICAM-1) K469E polymorphism: no association with type 1 diabetes among Finns Tissue Antigens. 2000; 55: 568-570.
11. Mycko MP, Kwinkowski M, Tronczynska E, et al. Multiple sclerosis, the increased frequency of the ICAM-1 exon 6 gene point mutation genetic type K469. Ann Neurol 1998; 44: 70-75.
12. Verity DH, Vaughan RW, Kondeatis E, et al. Intercellular adhesion molecule 1 gene polymorphisms in Behcet's disease. Eur J Immunogenet 2000; 27: 73-76.
13. Ho P, Bruce IN, Silman A, Symmons D, Newman B, Young H, Griffiths CE, John S, Worthington J, Barton A. Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis. Arthritis Rheum 2005; 52: 3596-3602.
14. Matsuzawa J, Sugimura K, Matsuda Y, Takazoe M, Ishizuka K, et al. Association between K469E allele of intercellular adhesion molecule 1 gene and inflammatory bowel disease in a Japanese population. Gut 2003; 52: 75-78.
15. Algood H, Flynn J. CCR5-deficient mice control Mycobacterium tuberculosis infection despite increased pulmonary lymphocytic infiltration. J Immunol 2004; 173: 3287-3296.
16. Katchar K, Eklund A, Grunewald J. Expression of Th1 markers by lung accumulated T cells in pulmonary sarcoidosis. J Intern Med 2003; 254: 564-571.
17. Prahalad S, Bohnsack JF, Jorde LB, et al. Association of two functional polymorphisms in the CCR5 gene with juvenile rheumatoid arthritis. Genes and immunity 2006; 7: 468-475.
18. Garlet G, Martins W, Ferreira B, et al. Patterns of chemokines and chemokine receptors expression in different forms of human periodontal disease. J Periodontal Res 2003; 38: 210-217.
19. Yates CR, Krynetski EY, Loennechen T, Fessing MY, Tai HL et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med. 1997; 126: 608-614.
20. Relling MV, Hancoc ML, Rivera GK, Sandlund JT, Ribeir RC, Krynetski EY et al. Mercaptopurine Therapy Intolerance and Heterozygosityat the Thiopurine S-Methyltransferase Gene Locus. Journal of the National Cancer Institute 1999; 91: 2001-2008.
21. Hosek J, Bartosova L, Gregor P, Kolorz M, Dite P, Batovsky M, Bartos M. Frequency of representative single nucleotide polymorphisms associated with inflammatory bowel disease in the Czech Republic and Slovak Republic. Folia Biologica (Praha) 2008; 54: 88-96.
22. Annese V, Latiano A, Palmieri O, Lombardi G, An driulli A. NOD2/CARD15 in healthy relatives of IBD patients. European Review for Medical and Pharmacological Sciences 2006; 10: 33-36.
23. Podolsky DK. Inflammatory bowel disease. N Engl J Med 2002; 347: 417-429.
24. Hradsky O, Lenicek M, Dusatkova P, Bronsky F, Nevoral J, et al. Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs. Tissue Antigens 2008; 6: 538-547.
25. Brant SR, Picco MF, Achkar JP, et al. Defining complex contributions of NOD2/CARD15 gene mutations, age at onset and tobacco use on Crohn's disease phenotypes. Inflamm bowel dis 2003; 9: 281-289.
26. Bonen DK, Cho JH. The genetics of inflammatory bowel disease. Gastroenterology 2003; 124: 521-536.
27. Herfarth H, Pollok-Kopp B, Goke M, Press A, Oppermann M. Polymorphism of CC chemokine receptors CCR2 and CCR5 in Crohn's disease. Immunology Letters 2001; 77: 113-117.
28. Karban A, Dagan E, Eliakim R, et al. Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease. Genes and Immunity 2005; 6: 134-139.
29. Leshinsky-Silver E, Karban A, Buzhakor E, Fridlander M. Is age of onset of Crohn's disease governed by mutations in NOD2/caspase recruitment domains 15 and Toll-like receptor 4? Evaluation of a pediatric cohort. Pediatr Res 2005; 58: 499-504.