Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease

World Journal of Gastroenterology

Volumn 14, Issue 28, 2008, Pages 4454-4461

  Rigoli, Luciana ^a   Romano, Claudio ^a   Caruso, Rosario Alberto ^a   Presti, Maria A Lo ^a   Di Bella, Chiara ^a   Procopio, Vincenzo ^a   Giudice, Giuseppina Lo ^a   Amorini, Maria ^a   Costantino, Giuseppe ^a   Sergi, Maria D ^a   Cuppari, Caterina ^a   Calabrò, Giovanna Elisa ^a   Gallizzi, Romina ^a   Salpietro, Carmelo Damiano ^a   Fries, Walter ^a  

^a UNIVERSITY OF MESSINA   (Italy)

Author keywords

Crohn's disease; NOD2 CARD15 gene; Single nucleotide polymorphisms; Toll like receptor 4 gene; Ulcerative colitis

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; TOLL LIKE RECEPTOR 4;

ADULT; ARTICLE; CONTROLLED STUDY; CROHN DISEASE; ENTERITIS; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; SINGLE NUCLEOTIDE POLYMORPHISM; ULCERATIVE COLITIS; WILD TYPE;

EID: 58049133078     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.14.4454     Document Type: Article

References (49)

1. Hugot JP. Inflammatory bowel disease: a complex group of genetic disorders. Best Pract Res Clin Gastroenterol 2004; 18: 451-462
2. Van Limbergen J, Russell RK, Nimmo ER, Ho GT, Arnott ID, Wilson DC, Satsangi J. Genetics of the innate immune response in inflammatory bowel disease. Inflamm Bowel Dis 2007; 13: 338-355
3. Trinh TT, Rioux JD. Understanding association and causality in the genetic studies of inflammatory bowel disease. Gastroenterology 2005; 129: 2106-2110
4. Henckaerts L, Pierik M, Joossens M, Ferrante M, Rutgeerts P, Vermeire S. Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. Gut 2007; 56: 1536-1542
5. Bonen DK, Cho JH. The genetics of inflammatory bowel disease. Gastroenterology 2003; 124: 521-536
6. Kobayashi KS, Chamaillard M, Ogura Y, Henegariu O, Inohara N, Nunez G, Flavell RA. Nod2-dependent regulation of innate and adaptive immunity in the intestinal tract. Science 2005; 307: 731-734
7. Vermeire S. NOD2/CARD15: relevance in clinical practice. Best Pract Res Clin Gastroenterol 2004; 18: 569-575
8. Brand S, Staudinger T, Schnitzler F, Pfennig S, Hofbauer K, Dambacher J, Seiderer J, Tillack C, Konrad A, Crispin A, Goke B, Lohse P, Ochsenkuhn T. 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: 645-652
9. Braat H, Stokkers P, Hommes T, Cohn D, Vogels E, Pronk I, Spek A, van Kampen A, van Deventer S, Peppelenbosch M, Hommes D. Consequence of functional Nod2 and Tlr4 mutations on gene transcription in Crohn's disease patients. J Mol Med 2005; 83: 601-609
10. Meylan E, Tschopp J, Karin M. Intracellular pattern recognition receptors in the host response. Nature 2006; 442: 39-44
11. Akira S, Uematsu S, Takeuchi O. Pathogen recognition and innate immunity. Cell 2006; 124: 783-801
12. Medzhitov R, Janeway CA Jr. Innate immunity: impact on the adaptive immune response. Curr Opin Immunol 1997; 9: 4-9
13. Otte JM, Cario E, Podolsky DK. Mechanisms of cross hyporesponsiveness to Toll-like receptor bacterial ligands in intestinal epithelial cells. Gastroenterology 2004; 126: 1054-1070
14. Poltorak A, He X, Smirnova I, Liu MY, Van Huffel C, Du X, Birdwell D, Alejos E, Silva M, Galanos C, Freudenberg M, Ricciardi-Castagnoli P, Layton B, Beutler B. Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene. Science 1998; 282: 2085-2088
15. Gaya DR, Russell RK, Nimmo ER, Satsangi J. New genes in inflammatory bowel disease: lessons for complex diseases? Lancet 2006; 367: 1271-1284
16. Podolsky DK. Inflammatory bowel disease 2. N Engl J Med 1991; 325: 1008-1016
17. Gasche C, Scholmerich J, Brynskov J, D'Haens G, Hanauer SB, Irvine EJ, Jewell DP, Rachmilewitz D, Sachar DB, Sandborn WJ, Sutherland LR. A simple classification of Crohn's disease: report of the Working Party for the World Congresses of Gastroenterology, Vienna 1998. Inflamm Bowel Dis 2000; 6: 8-15
18. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press, 1989: E3-E4
19. Inoue N, Tamura K, Kinouchi Y, Fukuda Y, Takahashi S, Ogura Y, Inohara N, Nunez G, Kishi Y, Koike Y, Shimosegawa T, Shimoyama T, Hibi T. Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology 2002; 123: 86-91
20. Sugimura M, Kinouchi Y, Takahashi S, Aihara H, Takagi S, Negoro K, Obana N, Kojima Y, Matsumoto K, Kikuchi T, Hiroki M, Oomori S, Shimosegawa T. CARD15/NOD2 mutational analysis in Japanese patients with Crohn's disease. Clin Genet 2003; 63: 160-162
21. Yamazaki K, Takazoe M, Tanaka T, Kazumori T, Nakamura Y. Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease. J Hum Genet 2002; 47: 469-472
22. Ozen SC, Dagli U, Kilic MY, Toruner M, Celik Y, Ozkan M, Soykan I, Cetinkaya H, Ulker A, Ozden A, Bozdayi AM. NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene polymorphisms in Turkish patients with inflammatory bowel disease. J Gastroenterol 2006; 41: 304-310
23. Riis L, Vind I, Vermeire S, Wolters F, Katsanos K, Politi P, Freitas J, Mouzas IA, O'Morain C, Ruiz-Ochoa V, Odes S, Binder V, Munkholm P, Moum B, Stockbrugger R, Langholz E. The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients. Inflamm Bowel Dis 2007; 13: 24-32
24. Cottone M, Renda MC, Mattaliano A, Oliva L, Fries W, Criscuoli V, Modesto I, Scimeca D, Maggio A, Casa A, Maisano S, Mocciaro F, Sferrazza A, Orlando A. Incidence of Crohn's disease and CARD15 mutation in a small township in Sicily. Eur J Epidemiol 2006; 21: 887-892
25. Fries W, Renda MC, Lo Presti MA, Raso A, Orlando A, Oliva L, Giofre MR, Maggio A, Mattaliano A, Macaluso A, Cottone M. Intestinal permeability and genetic determinants in patients, first-degree relatives, and controls in a high-incidence area of Crohn's disease in Southern Italy. Am J Gastroenterol 2005; 100: 2730-2736
26. Ahmad T, Armuzzi A, Bunce M, Mulcahy-Hawes K, Marshall SE, Orchard TR, Crawshaw J, Large O, de Silva A, Cook JT, Barnardo M, Cullen S, Welsh KI, Jewell DP. The molecular classification of the clinical manifestations of Crohn's disease. Gastroenterology 2002; 122: 854-866
27. Brant SR, Picco MF, Achkar JP, Bayless TM, Kane SV, Brzezinski A, Nouvet FJ, Bonen D, Karban A, Dassopoulos T, Karaliukas R, Beaty TH, Hanauer SB, Duerr RH, Cho JH. 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
28. Lesage S, Zouali H, Cezard JP, Colombel JF, Belaiche J, Almer S, Tysk C, O'Morain C, Gassull M, Binder V, Finkel Y, Modigliani R, Gower-Rousseau C, Macry J, Merlin F, Chamaillard M, Jannot AS, Thomas G, Hugot JP. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 2002; 70: 845-857
29. Annese V, Palmieri O, Latiano A, Ardizzone S, Castiglione F, Cottone M, D'Inca R, Gionchetti P, Papi C, Riegler G, Vecchi M, Andriulli A. Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Disease Study. Dig Liver Dis 2004; 36: 121-124
30. Cuthbert AP, Fisher SA, Mirza MM, King K, Hampe J, Croucher PJ, Mascheretti S, Sanderson J, Forbes A, Mansfield J, Schreiber S, Lewis CM, Mathew CG. The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology 2002; 122: 867-874
31. Abreu MT, Taylor KD, Lin YC, Hang T, Gaiennie J, Landers CJ, Vasiliauskas EA, Kam LY, Rojany M, Papadakis KA, Rotter JI, Targan SR, Yang H. Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease. Gastroenterology 2002; 123: 679-688
32. Renda MC, Orlando A, Civitavecchia G, Criscuoli V, Maggio A, Mocciaro F, Rossi F, Scimeca D, Modesto I, Oliva L, Cottone M. The role of CARD15 mutations and smoking in the course of Crohn's disease in a Mediterranean area. Am J Gastroenterol 2008; 103: 649-655
33. Ramachandran S, Deshpande O, Roseman CC, Rosenberg NA, Feldman MW, Cavalli-Sforza LL. Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. Proc Natl Acad Sci USA 2005; 102: 15942-15947
34. Gazouli M, Mantzaris G, Kotsinas A, Zacharatos P, Papalambros E, Archimandritis A, Ikonomopoulos J, Gorgoulis VG. 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: 681-685
35. Hume GE, Fowler EV, Doecke J, Simms LA, Huang N, Palmieri O, Griffiths LR, Florin TH, Annese V, Radford-Smith GL. Novel NOD2 haplotype strengthens the association between TLR4 Asp299Gly and Crohn's disease in an Australian population. Inflamm Bowel Dis 2008; 14: 585-590
36. Annese V, Latiano A, Palmieri O, Lombardi G, Andriulli A. NOD2/ CARD15 in healthy relatives of IBD patients. Eur Rev Med Pharmacol Sci 2006; 10: 33-36
37. Odes S, Friger M, Vardi H, Claessens G, Bossuyt X, Riis L, Munkholm P, Wolters F, Yona H, Hoie O, Beltrami M, Tsianos E, Katsanos K, Mouzas I, Clofent J, Monteiro E, Messori A, Politi P, O'Morain C, Limonard C, Russel M, Vatn M, Moum B, Stockbrugger R, Vermeire S. Role of ASCA and the NOD2/CARD15 mutation Gly908Arg in predicting increased surgical costs in Crohn's disease patients: a project of the European Collaborative Study Group on Inflammatory Bowel Disease. Inflamm Bowel Dis 2007; 13: 874-881
38. Russell RK, Nimmo ER, Satsangi J. Molecular genetics of Crohn's disease. Curr Opin Genet Dev 2004; 14: 264-270
39. Franchimont D, Vermeire S, El Housni H, Pierik M, Van Steen K, Gustot T, Quertinmont E, Abramowicz M, Van Gossum A, Deviere J, Rutgeerts P. 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: 987-992
40. Oostenbrug LE, Drenth JP, de Jong DJ, Nolte IM, Oosterom E, van Dullemen HM, van der Linde K, te Meerman GJ, van der Steege G, Kleibeuker JH, Jansen PL. Association between Toll-like receptor 4 and inflammatory bowel disease. Inflamm Bowel Dis 2005; 11: 567-575
41. Torok HP, Glas J, Tonenchi L, Mussack T, Folwaczny C. Polymorphisms of the lipopolysaccharide-signaling complex in inflammatory bowel disease: association of a mutation in the Toll-like receptor 4 gene with ulcerative colitis. Clin Immunol 2004; 112: 85-91
42. Arnott ID, Ho GT, Nimmo ER, Satsangi J. Toll-like receptor 4 gene in IBD: further evidence for genetic heterogeneity in Europe. Gut 2005; 54: 308; author reply 309
43. Browning BL, Huebner C, Petermann I, Gearry RB, Barclay ML, Shelling AN, Ferguson LR. Has toll-like receptor 4 been prematurely dismissed as an inflammatory bowel disease gene? Association study combined with meta-analysis shows strong evidence for association. Am J Gastroenterol 2007; 102: 2504-2512
44. Hong J, Leung E, Fraser AG, Merriman TR, Vishnu P, Krissansen GW. TLR2, TLR4 and TLR9 polymorphisms and Crohn's disease in a New Zealand Caucasian cohort. J Gastroenterol Hepatol 2007; 22: 1760-1766
45. Baumgart DC, Buning C, Geerdts L, Schmidt HH, Genschel J, Fiedler T, Gentz E, Molnar T, Nagy F, Lonovics J, Lochs H, Wiedenmann B, Nickel R, Witt H, Dignass A. The c.1-260C>T promoter variant of CD14 but not the c.896A>G (p.D299G) variant of toll-like receptor 4 (TLR4) genes is associated with inflammatory bowel disease. Digestion 2007; 76: 196-202
46. Arnott ID, Nimmo ER, Drummond HE, Fennell J, Smith BR, MacKinlay E, Morecroft J, Anderson N, Kelleher D, O' Sullivan M, McManus R, Satsangi J. NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe? Genes Immun 2004; 5: 417-425
47. De Jager PL, Franchimont D, Waliszewska A, Bitton A, Cohen A, Langelier D, Belaiche J, Vermeire S, Farwell L, Goris A, Libioulle C, Jani N, Dassopoulos T, Bromfield GP, Dubois B, Cho JH, Brant SR, Duerr RH, Yang H, Rotter JI, Silverberg MS, Steinhart AH, Daly MJ, Podolsky DK, Louis E, Hafler DA, Rioux JD. The role of the Toll receptor pathway in susceptibility to inflammatory bowel diseases. Genes Immun 2007; 8: 387-397
48. Henckaerts L, Pierik M, Joossens M, Ferrante M, Rutgeerts P, Vermeire S. Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease. Gut 2007; 56: 1536-1542
49. Annese V, Lombardi G, Perri F, D'Inca R, Ardizzone S, Riegler G, Giaccari S, Vecchi M, Castiglione F, Gionchetti P, Cocchiara E, Vigneri S, Latiano A, Palmieri O, Andriulli A. Variants of CARD15 are associated with an aggressive clinical course of Crohn's disease - an IG-IBD study. Am J Gastroenterol 2005; 100: 84-92