Polymorphisms in the tumor necrosis factor/ lipopolysaccharides pathway in crohn disease in the jewish ashkenazi population

Journal of Pediatric Gastroenterology and Nutrition

Volumn 46, Issue 5, 2008, Pages 546-550

  Silbermintz, Ari ^a   Levine, Jeremiah ^b   Weinstein, Toba ^b   Silver, Jack ^c  

^a SHAARE ZEDEK MEDICAL CENTER   (Israel)

^b Divisions of Pediatric Gastroenterology and Nutrition   (United States)

^c Molecular Medicine   (United States)

Author keywords

CD14; Crohn disease; Toll like receptor 4; Tumor necrosis factor ; Tumor necrosis factor converting enzyme

Indexed keywords

CD14 ANTIGEN; LIPOPOLYSACCHARIDE; TOLL LIKE RECEPTOR 4; TUMOR NECROSIS FACTOR; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR ALPHA CONVERTING ENZYME; TLR4 PROTEIN, HUMAN;

ADOLESCENT; ALLELE; ARTICLE; CROHN DISEASE; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DISEASE TRANSMISSION; FAMILY; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; FEMALE; GENETIC PREDISPOSITION; GENETICS; JEW; MALE; ONSET AGE;

ADOLESCENT; AGE OF ONSET; ANTIGENS, CD14; CROHN DISEASE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; JEWS; LINKAGE DISEQUILIBRIUM; LIPOPOLYSACCHARIDES; MALE; POLYMORPHISM, GENETIC; TOLL-LIKE RECEPTOR 4; TUMOR NECROSIS FACTOR-ALPHA;

EID: 48249135555     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e3181653ab5     Document Type: Article

References (31)

1. Yang H, McElree C, Roth MP, et al. Familial empiric risks for inflammatory bowel disease: differences between Jews and non-Jews. Gut 1993;34:517-24.
2. Weterman IT, Pena AS. Familial incidence of Crohn's disease in the Netherlands and a review of the literature. Gastroenterology 1984; 86:449-52.
3. Roth MP, Petersen GM, Mcelree C, et al. Familial empiric risk estimates of inflammatory bowel disease in Ashkenazi Jews. Gastroenterology 1989;96:1016-20.
4. Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001;411:599-603.
5. Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001;411:537-9.
6. Cuthbert AP, Fisher SA, Mirza MM, et al. The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology 2002;122:867-74.
7. Zhou Z, Lin X, Akolkar N, et al. Variation at NOD2/CARD15 in familial and sporadic cases of Crohn's disease in the Ashkenazi Jewish population. Am J Gastroenterol 2002;97:3095-101.
8. Komatsu M, Kobayashi D, Saito K, et al. Tumor necrosis factor-a in serum of patients with inflammatory bowel disease as measured by a highly sensitive immuno-PCR. Clin Chem 2001;47:1297-301.
9. Braegger CP, Nicholls S, Murch SH, et al. Tumor necrosis factor a in stool as a marker of intestinal inflammation. Lancet 1992;339: 89-91.
10. Breese CP, Michie CA, Nicholls SW. Tumor necrosis factor α-producing cells in the intestinal mucosa of children with inflammatory bowel disease. Gastroenterology 1994;106:1455-66.
11. Kontoyiannis D, Pasparakis M, Pizarro TT, et al. Impaired on/off regulation of TNF biosynthesis in mice lacking TNF AU-rich elements; implications for joint and gut-associated immunopatholo-gies. Immunity 1999;10:387-98.
12. Skoog T, van't Hooft FM, Kallin B, et al. A common functional polymorphism (C →A substitution at position -863) in the promoter region of the tumour necrosis factor-a (TNF-α) gene associated with reduced circulating levels of TNF-α. Hum Mol Genet 1999; 8:1443-9.
13. O'Callaghan NJ, Adams KE, Van Heel DA, et al. Association of TNF-a-857C with inflammatory bowel disease in the Australian population. Scand J Gastroenterol 2003;38:533-4.
14. Van Heel DA, Udalova I, De Silva A, et al. Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-KB transcription factors. Rum Mol Genet 2002;11:1281-9.
15. Dentener MA, Bazil V, Von Asmuth EJU, et al. Involvement of CD 14 in lipopolysaccharide-induced tumor necrosis factor-a, IL-6, and IL-8 release by human monocytes and alveolar macrophages. J Immunol 1993;150:2885-91.
16. Hoshino K, Takeuchi O, Kawai T, et al. Cutting edge: toll-like receptor 4 (TLR4)-deficient mice are hyporesponsive to lipopoly-saccharide: evidence for TLR4 as the Lps gene product. J Immunol 1999;162:3749-52.
17. Haziot A, Ferrero E, Roentgen F, et al. Resistance to endotoxin shock and reduced dissemination of gram-negative bacteria in CD14-deficient mice. Immunity 1996;4:407-14.
18. Arbour NC, Lorenz E, Schutte BC, et al. Tlr4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat Genet 2000;25: 187-91.
19. Arnott ID, Nimmo ER, Drummond HE, et al. NOD2/CARD15, TLR4, and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe? Genes Immun 2004;5:417-25.
20. Franchimont D, Vermeire S, El Housni H, et al. 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;53:987-92.
21. Kawaguchi M. Overexpression of tumor necrosis factor-α-converting enzyme in psoriasis. Br J Dermatol 2005;152:915-9.
22. Doggrell SA. TACE inhibition: a new approach to treating inflammation. Expert Opin Investig Drugs 2002;11:1003-6.
23. Kirkegaard T, Pedersen G, Saermark T, et al. Tumor necrosis factorα converting enzyme (TACE) activity in human colonic epithelial cells. Clin Exp Immunol 2004;135:146-53.
24. Brynskov J, Foegh P, Pedersen G. Tumor necrosis factor a converting enzyme (TACE) activity in colonic mucosa of patients with inflammatory bowel disease. Gut 2002;51:37-43.
25. Baldini M, Lohman IC, Halonen M, et al. A polymorphism in the 5' flanking region of the CD14 gene is associated with circulating soluble CD14 levels and with total serum immunoglobulin E. Am J Respir Cell Mol Biol 1999;20:976-83.
26. Klein W, Tromm A, Griga T, et al. A polymorphism in the CD 14 gene is associated with Crohn disease. Scand J Gastroenterol 2002; 37:189-91.
27. Brand S, Staudinger T, Schnitzler F, et al. The role of toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms and CARD15/NOD2 mutations in the susceptibility and phenotype of Crohn's disease. Inflamm Bowel Dis 2005;11:645-52.
28. Nimo ER, Arnott IR, Drummond HE, et al. Mutations of toll-like receptor 4 and CD14 are not associated with susceptibility or disease behaviour in inflammatory bowel disease. Gastroenterology 2003;124:A-373.
29. Negoro K, Kinouchi Y, Hiwattashi N, et al. Crohn's disease is associated with novel polymorphisms in the 5'-flanking region of the tumor necrosis factor gene. Gastroenterology 1999;117:1062-8.
30. Levine A, Karban A, Eliakim R, et al. A polymorphism in the TNF-a promoter gene is associated with pediatric onset and colonic location of Crohn's disease. Am J Gastroenterol 2005;100:407-13.
31. Inoue N, Tamura K, Kinouchi Y, et al. Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology 2002;123:86-91.