Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms: New data and a meta-analysis

BMC Gastroenterology

Volumn 14, Issue 1, 2014, Pages

  Senhaji, Nezha ^a   Diakit, Brehima ^a   Serbati, Nadia ^a   Zaid, Younes ^c   Badre, Wafaa ^b   Nadifi, Sellama ^a  

^a HASSAN II UNIVERSITY   (Morocco)

^b IBN ROCHD UNIVERSITY HOSPITAL   (Morocco)

^c MONTREAL HEART INSTITUTE   (Canada)

Author keywords

Inflammatory bowel disease; Moroccan patients; Toll like receptor 4

Indexed keywords

ASPARTIC ACID; GENOMIC DNA; GLYCINE; ISOLEUCINE; THREONINE; TOLL LIKE RECEPTOR 4; TLR4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CROHN DISEASE; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HUMAN CELL; INFLAMMATORY BOWEL DISEASE; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; MOROCCAN; MUTATION RATE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; TOLL LIKE RECEPTOR 4 GENE; ULCERATIVE COLITIS; GENETIC POLYMORPHISM; GENETICS; META ANALYSIS; MOROCCO;

ADULT; COLITIS, ULCERATIVE; CROHN DISEASE; HUMANS; INFLAMMATORY BOWEL DISEASES; MOROCCO; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TOLL-LIKE RECEPTOR 4;

EID: 84964313153     PISSN: None     EISSN: 1471230X     Source Type: Journal    
DOI: 10.1186/s12876-014-0206-x     Document Type: Article

References (51)

1. Shanahan F, Bernstein CN: The evolving epidemiology of inflammatory bowel disease. Curr Opin Gastroenterol 2009, 25(4):301-305.
2. Sobczak M, Fabisiak A, Murawska N, Wesolowska E, Wierzbicka P, Wlazlowski M, Wjcikowska M, Zatorski H, Zwolinska M, Fichna J: Current overview of extrinsic and intrinsic factors in etiology and progression of inflammatory bowel diseases. Pharmacol Rep 2014, 66(5):766-775.
3. Rock FL, Hardiman G, Timans JC, Kastelein RA, Bazan JF: A family of human receptors structurally related to Drosophila Toll. Proc Natl Acad Sci U S A 1998, 95:588-593.
4. Takeda K, Kaisho T, Akira S: Toll-like receptors. Annu Rev Immunol 2003, 21:335-376.
5. Kumar H, Kawai T, Akira S: Toll-like receptors and innate immunity. Biochem Biophys Res Commun 2009, 388:621-625.
6. Medzhitov R, Preston-Hurlburt P, Janeway CA Jr: A human homologue of the Drosophila Toll protein signals activation of adaptive immunity. Nature 1997, 388(6640):394-397.
7. Akira S, Takeda K, Kaisho T: Toll-like receptors: critical proteins linking innate and acquired immunity. Nat Immunol 2001, 2:675-680.
8. Chow JC, Young DW, Golenbock DT, Christ WJ, Gusovsky F: Toll-like receptor-4 mediates lipopolysaccharide-induced signal transduction. J Biol Chem 1999, 274:10689-10692.
9. Fitzgerald KA, Palsson McDermott EM, Bowie AG, Jefferies CA, Mansell AS, Brady G, Brint E, Dunne A, Gray P, Harte MT, McMurray D, Smith DE, Sims JE, Bird TA, O'Neill LA: Mal (MyD88-adapter-like) is required for Tolllike receptor-4 signal transduction. Nature 2001, 413(6851):78-83.
10. 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.
11. Abreu MT, Vora P, Faure E, Thomas LS, Arnold ET, Arditi M: Decreased expression of Toll-like receptor- 4 and MD-2 correlates with intestinal epithelial cell protection against dysregulated proinflammatory gene expression in response to bacterial lipopolysaccharide. J Immunol 2001, 167:1609-1616.
12. Cario E, Podosky DK: Differential alteration in intestinal epithelial cell expression of Toll-like receptor 3 (TLR3) and TLR4 in inflammatory bowel disease. Infect Immun 2000, 68:7010-7017.
13. Hausmann M, Kiessling S, Mestermann S, Webb G, Spttl T, Andus T, Schlmerich J, Herfarth H, Ray K, Falk W, Rogler G: Toll-like receptors 2 and are up-regulated during intestinal inflammation. Gastroenterology 2002, 122:1987-2000.
14. Singh JC, Cruickshank SM, Newton DJ, Wakenshaw L, Graham A, Lan J, Lodge JP, Felsburg PJ, Carding SR: Toll-like receptor mediated responses of primary intestinal epithelial cells during the development of colitis. Am J PhysiolGastrointest Liver Physiol 2005, 288:G514-G524.
15. Frolova L, Drastich P, Rossmann P, Klimesova K, Tlaskalova-Hogenova H: Expression of Toll-like receptor 2 (TLR2), TLR4, and CD14 in biopsy samples of patients with inflammatory bowel diseases: upregulated expression of TLR2 in terminal ileum of patients with ulcerative colitis. J Histochem Cytochem 2008, 56:267-274.
16. Szebeni B, Veres G, Dezsfi A, Rusai K, Vannay A, Mraz M, Majorova E, Arat A: Increased expression of Toll-like receptor (TLR) 2 and TLR4 in the colonic mucosa of children with inflammatory bowel disease. Clin Exp Immunol 2008, 151:34-41.
17. Arbour NC, Lorenz E, Schutte BC: TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat Genet 2000, 25:187-191.
18. Senhaji N, Serbati N, Diakit B, Arazzakou S, Hamzi K, Badre W, Nadifi S: Methylenetetrahydrofolatereductase C677T variant in Moroccan patients with inflammatory bowel disease. Gene 2013, 521(1):45-49.
19. Serbati N, Senhaji N, Diakite B, Badre W, Nadifi S: IL23R and ATG16L1 variants in Moroccan patients with inflammatory bowel disease. BMC Res Notes 2014, 7(1):570.
20. Silverberg MS, Satsangi J, Ahmad T, Arnott ID, Bernstein CN, Brant SR, Caprilli R, Colombel JF, Gasche C, Geboes K, Jewell DP, Karban A, Loftus EV Jr, Pea AS, Riddell RH, Sachar DB, Schreiber S, Steinhart AH, Targan SR, Vermeire S, Warren BF: Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a working party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol 2005, 19:5-36.
21. 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.
22. 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 Crohns disease. Inflamm Bowel Dis 2005, 11:645-652.
23. de Ridder L, Weersma RK, Dijkstra G, van der Steege G, Benninga MA, Nolte IM, Taminiau JA, Hommes DW, Stokkers PC: Genetic susceptibility has a more important role in pediatric-onset Crohns disease than in adult-onset Crohns disease. Inflamm Bowel Dis 2007, 13:1083-1092.
24. Kim EJ, Chung WC, Lee KM, Paik CN, Jung SH, Lee BI, Chae HS, Choi KY: Association between toll-like receptors/CD14 gene polymorphisms and inflammatory bowel disease in Korean population. J Korean Med Sci 2012, 27:72-77.
25. Guo QS, Xia B, Jiang Y, Morre SA, Cheng L, Li J, Crusius JB, Pena AS: Polymorphisms of CD14 gene and TLR4 gene are not associated with ulcerative colitis in Chinese patients. Postgrad Med J 2005, 81:526-529.
26. Chen L, Lin MJ, Zhan LL, Lv XP: Analysis of TLR4 and TLR2 polymorphisms in inflammatory bowel disease in a Guangxi Zhuang population. World J Gastroenterol 2012, 18:6856-6860.
27. Shen X, Shi R, Zhang H, Li K, Zhao Y, Zhang R: The Toll-like receptor 4 D299G and T399I polymorphisms are associated with Crohns disease and ulcerative colitis: a meta-analysis. Digestion 2010, 81(2):69-77.
28. 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.
29. Figueroa C, Peralta A, Herrera L, Castro P, Gutierrez A, Valenzuela J, Aguillon JC, Quera A, Hermoso MA: NOD2/CARD15 and Toll-like 4 receptor gene polymorphism in Chilean patientes with inflammatory bowel disease. Eur Cytokine Netw 2006, 17:125.1340.
30. Braat H, Dijgraaf M, Curvers W, Vogels E, Bodegraven AV, Stokkers P, Hommes D, Deventer SV: A functional single polymorphism of the TLR4 gene is correlated Crohns disease but not with ulcerative colitis. Gastroenterology 2003, 124:A367.
31. Arnott IDR, 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 Crohns disease patients: evidence for genetic heterogeneity within Europe-Genes Immun 2004, 5:417-425.
32. Franchimont D, Vermeir S, El Housni H, Pierik M, Van Steen K, Gustot T, Quertinmont E, Abramowicz M, Van Gossum A, Devire J, Rutgeerts P: Deficient host-bacteria interactions in inflammatory bowel disease-The toll-like receptor (TLR)-4 Asp 299Gly polymorphism is associated with Crohns disease and ulcerative colitis. Gut 2004, 53:987-992.
33. 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.
34. 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 Crohns disease patients. J Mol Med (Berl) 2005, 83(8):601-609.
35. Lakatos PL, Lakatos L, Szalay F, Willheim-Polli C, Sterreicher C, Tulassay Z, Molnar T, Reinisch W, Papp J, Mozsik G, Ferenci P, Hungarian IBD Study Group: Toll-like receptor 4 and NOD2/CARD15 mutations in Hungarian patients with Crohns disease: Phenotype-genotype correlations. World J Gastroenterol 2005, 11:1489-1495.
36. Gazouli M, Mantzaris G, Kotsinas A, Zacharatos P, Papalambros E, Archimandritis E, 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. W J Gastroenterol 2005, 11:681-685.
37. 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(6):567-575.
38. Ouburg S, Mallant-Hent R, Crusius JBA, van Bodegraven AA, Mulder CJJ, Linskens R, Pena AS, Morre SA: The toll-like receptor 4 (TLR4) Asp299Gly polymorphism is associated with colonic localisation of Crohns disease without a major role for the Saccharomyces cerevisiae mannan-LBPCD14- TLR4 pathway. Gut 2005, 54(3):439-440.
39. Fries W, Renda MC, Lo Presti MA, Raso A, Orlando A, Oliva L, Giofr 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 Crohns disease in southern Italy. Am J Gastroenterol 2005, 100:2730-2736.
40. Zouiten-Mekki L, Kharrat M, Karoui S, Serghimi M, Fekih M, Matri S, Kallel L, Boubaker J, Filali A, Chaabouni H: Tolllike receptor 4 (TLR4) polymorphisms in Tunisian patients with Crohns disease: genotypephenotype correlation. BMC Gastroenterol 2009, 9:62.
41. Hong J, Leung E, Fraser AG, Merriman TR, Vishnu P, Krissansen GW: TLR2, TLR4 and TLR9 polymorphisms and Crohns disease in a New Zealand Caucasian cohort. J Gastroenterol Hepatol 2007, 22(11):1760-1766.
42. 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.
43. Riis L, Ida V, Severine V, Frank W, Kostas K, Patrizia P, Joo F, Mouzas IA, O'Morain C, Ruiz-Ochoa V, Odes S, Binder V, Munkholm P, Moum B, Stockbrgger R, Langholz E, European Collaborative Study Group on Inflammatory Bowel Disease: The prevalence of genetic and serologic markers in an unselected European population-based cohort of IBD patients. Inflamm Bowel Dis 2007, 13(1):24-32.
44. 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 Crohns disease in an Australian population. Inflamm Bowel Dis 2008, 14:585-590.
45. Rigoli L, Romano C, Caruso RA, Lo Presti MA, Di Bella C, Procopio V, Lo Giudice G, Amorini M, Costantino G, Sergi MD, Cuppari C, Calabro GE, Gallizzi R, Salpietro CD, Fries W: Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease. World J Gastroenterol 2008, 14:4454-4461.
46. Manolakis CA, Kapsoritakis NA, Kapsoritaki A, Tiaka EK, Oikonomou AK, Lotis V, Vamvakopoulou D, Davidi I, Vamvakopoulos N, Potamianos SP: Readressing the role of toll-like receptor-4 alleles in inflammatory bowel disease: colitis, smoking, and seroreactivity. Dig Dis Sci 2013, 58(2):371-380.
47. Azzam N, Nounou H, Alharbi O, Aljebreen A, Shalaby M: CARD15/NOD2, CD14 and toll-like 4 receptor gene polymorphisms in Saudi patients with Crohns disease. Int J Mol Sci 2012, 13:4268-4280.
48. Ferwerda B,McCallMB, Verheijen K, Kullberg BJ, van der Ven AJ, Van der Meer JW, Netea MG: Functional consequences of toll-like receptor 4 polymorphisms. Mol Med 2008, 14:346-352.
49. Okayama N, Fujimura K, Suehiro Y, Hamanaka Y, Fujiwara M, Matsubara T, Maekawa T, Hazama S, Oka M, Nohara H, Kayano K, Okita K, Hinoda Y: Simple genotype analysis of the Asp299Gly polymorphism of the toll-like receptor- 4 gene that is associated with lipopolysaccharide hyporesponsiveness. J Clin Lab Anal 2002, 16:56-58.
50. Shen XY, Shi RH, Wang Y, Zhang HJ, Zhou XQ, Shen FC, Li KB: Toll-like receptor gene polymorphisms and susceptibility to inflammatory bowel disease in Chinese Han and Caucasian populations. Zhonghua Yi XueZaZhi 2010, 90(20):1416-1420.
51. Ali S, Tamboli CP: Advances in epidemiology and diagnosis of inflammatory bowel diseases. Cur Gastroenterol Rep 2008, 10:576-584.