Influence of Toll-Like Receptor Gene Polymorphisms to Tuberculosis Susceptibility in Humans

Scandinavian Journal of Immunology

Volumn 78, Issue 3, 2013, Pages 221-229

  Thada, S ^a   Valluri, V L ^a,b   Gaddam, S L ^a  

^a Bhagwan Mahavir Medical Research Centre   (India)

^b Blue Peter Public Health and Research Centre   (India)

Author keywords

[No Author keywords available]

Indexed keywords

MYELOID DIFFERENTIATION FACTOR 88; TOLL LIKE RECEPTOR; TOLL LIKE RECEPTOR 1; TOLL LIKE RECEPTOR 2; TOLL LIKE RECEPTOR 4; TOLL LIKE RECEPTOR 6; TOLL LIKE RECEPTOR 8; TOLL LIKE RECEPTOR 9;

AFRICAN AMERICAN; ASIAN; BACTERIAL GROWTH; EUROPEAN AMERICAN; GENOTYPE; HUMAN; IMMUNE RESPONSE; INFECTION SENSITIVITY; INNATE IMMUNITY; MOLECULAR MECHANICS; MOLECULAR RECOGNITION; MYCOBACTERIUM TUBERCULOSIS; PATTERN RECOGNITION; PRIORITY JOURNAL; RACE; REVIEW; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TUBERCULOSIS; TURKEY (REPUBLIC);

GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNITY, INNATE; MYCOBACTERIUM TUBERCULOSIS; MYELOID DIFFERENTIATION FACTOR 88; POLYMORPHISM, SINGLE NUCLEOTIDE; SIGNAL TRANSDUCTION; TOLL-LIKE RECEPTORS; TUBERCULOSIS;

EID: 84882937259     PISSN: 03009475     EISSN: 13653083     Source Type: Journal    
DOI: 10.1111/sji.12066     Document Type: Review

References (97)

1. Stop TB partnership: The global plan to Stop TB 2011-2015.
2. Teitelbaum R, Schubert W, Gunther L et al. The M cell as a portal of entry to the lung for the bacterial pathogen Mycobacterium tuberculosis. Immunity 1999;10:641-50.
3. Bermudez LE, Sangari FJ, Kolonoski P, Petrofsky M, Goodman J. The efficiency of the translocation of Mycobacterium tuberculosis across a bilayer of epithelial and endothelial cells as a model of the alveolar wall is a consequence of transport within mononuclear phagocytes and invasion of alveolar epithelial cells. Infect Immun 2002;70:140-6.
4. Chackerian AA, Alt JM, Perera TV, Dascher CC, Behar SM. Dissemination of Mycobacterium tuberculosis is influenced by host factors and precedes the initiation of T-cell immunity. Infect Immun 2002;70:4501-9.
5. Hingley-Wilson SM, Sambandamurthy VK, Jacobs WR. Survival perspectives from the world's most successful pathogen Mycobacterium tuberculosis. Nat Immunol 2003;4:949-55.
6. Medzhitov R. Toll-like receptors and innate immunity. Nat Rev Immunol 2001;1:135-45.
7. Akira S, Uematsu S, Takeuchi O. Pathogen recognition and innate immunity. Cell 2006;124:783-801.
8. Belvin MP, Anderson KV. A conserved signaling pathway: the Drosophila toll-dorsal pathway. Annu Rev Cell Dev Biol 1996;12:393-416.
9. Medzhitov R, Preston-Hurlburt P, Janeway CA. A human homologue of the Drosophila Toll protein signals activation of adaptive immunity. Nature 1997;388:394-7.
10. Visintin A, Mazzoni A, Spitzer JH, Wyllie DH, Dower SK, Segal DM. Regulation of toll-like receptors in human monocytes and dendritic cells. J Immunol 2001;166:249-55.
11. Stein D, Roth S, Vogelsang E, Nusslein-Volhard C. The polarity of the dorsoventral axis in the Drosophila embryo is defined by an extracellular signal. Cell 1991;65:725-35.
12. Liu G, Zhang L, Zhao Y. Modulation of immune responses through direct activation of Toll-like receptors to T cells. Clin Exp Immunol 2010;160:168-75.
13. Lisa CP, Moira KB, Steven KD, Ian S. The expression and roles of Toll-like receptors in the biology of the human neutrophil. J Leuko Biol 2005;77:886-92.
14. Krutzik SR, Modlin RL. The role of Toll-like receptors in combating mycobacteria. Semin Immunol 2004;16:35-41.
15. Noss EH, Pai RK, Sellati TJ et al. Toll-like receptor 2-dependent inhibition of macrophage class II MHC expression and antigen processing by 19-kDa lipoprotein of Mycobacterium tuberculosis. J Immunol 2001;167:910-8.
16. Jung SB, Yang CS, Lee JS et al. The mycobacterial 38-kilodalton glycolipoprotein antigen activates the mitogen-activated protein kinase pathway and release of proinflammatory cytokines through Toll-like receptors 2 and 4 in human monocytes. Infect Immun 2006;74:2686-96.
17. Jo EK, Yang CS, Choi CH, Harding CV. Intracellular signalling cascades regulating innate immune responses to mycobacteria: branching out from Toll-like receptors. Cell Microbiol 2007;9:1087-98.
18. Jo EK. Mycobacterial interaction with innate receptors: TLRs, C-type lectins, and NLRs. Curr Opin Infect Dis 2008;21:279-86.
19. Yamamoto M, Sato S, Hemmi H et al. Role of adaptor TRIF in the MyD88-independent toll-like receptor signaling pathway. Science 2003;301:640-3.
20. Xu Y, Jagannath C, Liu XD, Sharafkhaneh A, Kolodziejska KE, Eissa NT. Toll-like receptor 4 Is a sensor for autophagy associated with innate immunity. Immunity 2007;27:135-44.
21. Covert MW, Leung TH, Gaston JE, Baltimore D. Achieving stability of lipopolysaccharide-induced NF-kappa B activation. Science 2005;309:1854-7.
22. Underhill DM, Ozinsky A, Smith KD, Aderem A. Toll-like receptor-2 mediates mycobacteria-induced proinflammatory signaling in macrophages. Proc Natl Acad Sci USA 1999;96:14459-63.
23. Burns K, Janssens S, Brissoni B, Olivos N, Beyaert R, Tschopp J. Inhibition of interleukin1 receptor/Toll-like receptor signaling through the alternatively spliced, short form of MyD88 is due to its failure to recruit IRAK-4. J Exp Med 2003;197:263-8.
24. Medzhitov R, Preston-Hurlburt P, Kopp E et al. MyD88 is an adaptor protein in the hToll/IL-1 receptor family signaling pathways. Mol Cell 1998;2:253-8.
25. Muzio M, Ni J, Feng P, Dixit VM. IRAK (Pelle) family member IRAK-2 and MyD88 as proximal mediators of IL-1 signaling. Science 1997;278:1612-5.
26. Suzuki N, Suzuki S, Duncan GS et al. Severe impairment of interleukin-1 and Toll-like receptor signalling in mice lacking IRAK-4. Nature 2002;416:750-6.
27. Takeda K, Akira S. TLR signaling pathways. Semin Immunol 2004;16:3-9.
28. Fitzgerald KA, Rowe DC, Barnes BJ et al. LPS-TLR4 signaling to IRF-3/7 and NF-κB involves the Toll adapters TRAM and TRIF. J Exp Med 2003;198:1043-55.
29. Yamamoto M, Sato S, Hemmi H et al. TRAM is specifically involved in the Toll-like receptor 4-mediated MyD88-independent signaling pathway. Nat Immunol 2003;4:1144-50.
30. Kagan JC, Su T, Horng T, Chow A, Akira S, Medzhitov R. TRAM couples endocytosis of Toll-like receptor 4 to the induction of interferon-beta. Nat Immunol 2008;9:361-8.
31. Doyle SE, Vaidya SA, O'Connell R et al. IRF3 mediates a TLR3/TLR4-specific antiviral gene program. Immunity 2002;17:251-63.
32. Toshchakov V, Jones BW, Perera PY et al. TLR4, but not TLR2, mediates IFN-β-induced STAT1α/β-dependent gene expression in macrophages. Nat Immunol 2002;3:392-8.
33. Hoshino K, Kaisho T, Iwabe T, Takeuchi O, Akira S. Differential involvement of IFN- β in Toll-like receptor-stimulated dendritic cell activation. Int Immunol 2002;14:1225-31.
34. Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat 2009;30:1237-44.
35. Kimchi-Sarfaty C, Oh JM, Kim IW et al. A silent polymorphism in the MDR1 gene changes substrate specificity. Science 2007;315:525-8.
36. Zarember KA, Godowski PJ. Tissue expression of human Toll-like receptors and differential regulation of Toll-like receptor mRNAs in leukocytes in response to microbes, their products, and cytokines. J Immunol 2002;168:554-61.
37. Hawn TR, Misch EA, Dunstan SJ et al. A common human TLR1 polymorphism regulates the innate immune response to lipopeptides. Eur J Immunol 2007;37:2280-9.
38. Takeuchi O, Kawai T, Muhlradt PF et al. Discrimination of bacterial lipoproteins by Toll-like receptor 6. Int Immunol 2001;13:933-40.
39. Takeuchi O, Sato S, Horiuchi T et al. Cutting edge: role of Toll-like receptor 1 in mediating immune response to microbial lipoproteins. J Immunol 2002;169:10-4.
40. Takeda K, Takeuchi O, Akira S. Recognition of lipopeptides by Toll-like receptors. J Endotoxin Res 2002;8:459-63.
41. Katherine OO, Daniel JM, Katherine ST, Elizabeth AL, Richard IT. The polymorphism P315L of human Toll-like receptor 1 impairs innate immune sensing of microbial cell wall components. J Immunol 2007;178:6387-94.
42. Uciechowski P, Imhoff H, Lange C et al. Susceptibility to tuberculosis is associated with TLR1 polymorphisms resulting in a lack of TLR1 cell surface expression. J Leukoc Biol 2011;90:377-88.
43. Kesh S, Mensah NY, Peterlongo P et al. TLR1 and TLR6 polymorphisms are associated with susceptibility to invasive aspergillosis after allogeneic stem cell transplantation. Ann N Y Acad Sci 2005;1062:95-103.
44. Pierik M, Joossens S, Van Steen K et al. Toll-like receptor-1, -2, and -6 polymorphisms influence disease extension in inflammatory bowel diseases. Inflamm Bowel Dis 2006;12:1-8.
45. Fabiana MSL, Lilian F, Fabiana PA et al. Variants in the Toll-like receptor signaling pathway and clinical outcomes of malaria. J Infect Diseases 2008;198:772-80.
46. Yang CA, Scheibenbogen C, Bauer S et al. A Frequent Toll-like receptor 1 gene polymorphism affects NK- and T-cell IFN-γ production and is associated with Helicobacter pylori-induced gastric disease. Helicobacter 2013;18:13-21.
47. Ma X, Liu Y, Gowen BB, Graviss EA, Clark AG, Musser JM. Full-exon resequencing reveals Toll-like receptor variants contribute to human susceptibility to tuberculosis disease. PLoS ONE 2007;2:e1318.
48. Rock FL, Hardiman G, Timans JC, Kastelein RA, Bazan JF. A family of human receptors structurally related to Drosophila Toll. Proc Natl Acad Sci USA 1998;95:588-93.
49. Means TK, Wang S, Lien E, Yoshimura A, Golenbock DT, Fenton MJ. Human toll-like receptors mediate cellular activation by Mycobacterium tuberculosis. J Immunol 1999;163:3920-7.
50. López M, Sly LM, Luu Y, Young D, Cooper H, Reiner NE. The 19-kDa Mycobacterium tuberculosis protein induces macrophage apoptosis through toll-like receptor 2. J Immunol 2003;170:2409-16.
51. Fricke I, Mitchell D, Mittelstädt J et al. Mycobacteria induce IFN-γ production in human dendritic cells via triggering of TLR2. J Immunol 2006;176:5173-82.
52. Basu S, Pathk SK, Banerjee A et al. Execution of macrophage apoptosis by PE_PGRS33 of Mycobacterium tuberculosis is mediated by toll-like receptor 2-dependent release of tumor necrosis factor-α. J Biol Chem 2007;282:1039-50.
53. Underhill DM, Ozinsky A, Hajjar AM et al. The Toll-like receptor 2 is recruited to macrophage phagosomes and discriminates between pathogens. Nature 1999;401:811-5.
54. Texereau J, Chiche JD, Taylor W, Choukroun G, Comba B, Mira JP. The importance of Toll-like receptor 2 polymorphisms in severe infections. Clin Infect Dis 2005;41:408-15.
55. Bulut Y, Faure E, Thomas L, Equils O, Arditi M. Cooperation of Toll-like receptor 2 and 6 for cellular activation by soluble tuberculosis factor and Borrelia burgdorferi outer surface protein A lipoprotein: role of Toll-interacting protein and IL-1 receptor signaling molecules in Toll-like receptor 2 signaling. J Immunol 2001;167:987-94.
56. Ozinsky A, Underhill DM, Fontenot JD et al. The repertoire for pattern recognition of pathogens by the innate immune system is defined by cooperation between toll-like receptors. Proc Natl Acad Sci USA 2000;97:13766-71.
57. Janeway CA, Medzhitov R. Innate immune recognition. Annu Rev Immunol 2002;20:197-216.
58. Akira S, Takeda K, Kaisho T. Toll-like receptors: critical proteins linking innate and acquired immunity. Nat Immunol 2001;2:675-80.
59. Kirschning CJ, Wesche H, Merrill AT, Rothe M. Human toll-like receptor 2 confers responsiveness to bacterial lipopolysaccharide. J Exp Med 1998;188:2091-7.
60. Kang TJ, Chae GT. Detection of Toll-like receptor 2 (TLR2) mutation in the lepromatous leprosy patients. FEMS Immunol Med Microbiol 2001;31:53-8.
61. Ben-Ali M, Barbouche MR, Bousnina S, Chabbou A, Dellagi K. Toll-like receptor 2 Arg677Trp polymorphism is associated with susceptibility to tuberculosis in Tunisian patients. Clin Diagn Lab Immunol 2004;11:625-6.
62. Kang TJ, Lee SB, Chae GT. A polymorphism in the toll-like receptor 2 is associated with IL-12 production from monocyte in lepromatous leprosy. Cytokine 2002;20:56-62.
63. Bochud PY, Hawn TR, Aderem A. Cutting edge: a Toll-like receptor 2 polymorphism that is associated with lepromatous leprosy is unable to mediate mycobacterial signaling. J Immunol 2003;170:3451-4.
64. Fulton SA, Reba SM, Pai RK et al. Inhibition of major histocompatibility complex II expression and antigen processing in murine alveolar macrophages by mycobacterium bovis BCG and the 19-kilodalton mycobacterial lipoprotein. Infect Immun 2004;72:2101-10.
65. Pai RK, Pennini ME, Tobian AR, Canaday DH, Boom WH, Harding CV. Prolonged toll-like receptor signaling by Mycobacterium tuberculosis and its 19-kilodalton lipoprotein inhibits gamma interferon-induced regulation of selected genes in macrophages. Infect Immun 2004;72:6603-14.
66. Hailman E, Lichenstein HS, Wurfel MM et al. Lipopolysaccharide (LPS)-binding protein accelerates the binding of LPS to CD14. J Exp Med 1994;179:269-77.
67. Tobias PS, Soldau K, Gegner JA, Mintz D, Ulevitch RJ. Lipopolysaccharide binding protein-mediated complexation of lipopolysaccharide with soluble CD14. J Biol Chem 1995;270:10482-8.
68. Nishiya T, Kajita E, Miwa S. Ligand-independent oligomerization of TLR4 regulated by a short hydrophobic region adjacent to the transmembrane domain. Biochem Biophys Res Commun 2006;341:1128-34.
69. Hue NT, Lanh MN, Phuong LT et al. Toll-Like Receptor 4 (TLR4) and Typhoid Fever in Vietnam. PLoS ONE 2009;4:e4800.
70. Schroder NW, Schumann RR. Single nucleotide polymorphisms of Toll-like receptors and susceptibility to infectious disease. Lancet Infect Dis 2005;5:156-64.
71. Nakada A, Hirasawa H, Oda S et al. Influence of toll-like receptor 4, CD14, tumor necrosis factor, and interleukin-10 gene polymorphisms on clinical outcome in Japanese critically ill patients. J Surg Res 2005;129:322-8.
72. Kim YS, Hwang YJ, Kim SY, Yang SM, Lee KY, Park IB. Rarity of TLR4 Asp299Gly and Thr399Ile polymorphisms in the Korean population. Yonsei Med J 2008;49:58-62.
73. Antonios IP, Ferwerda B, Antoniadou A et al. Association of Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms with increased infection risk in patients with advanced HIV-1 infection. Clin Infect Dis 2010;51:242-7.
74. Newport MJ, Allen A, Awomoyi AA et al. The toll-like receptor 4 Asp299Gly variant: no influence on LPS responsiveness or susceptibility to pulmonary tuberculosis in The Gambia. Tuberculosis 2004;84:347-52.
75. Adrian G, Revol A, Mario C, Rendon A, Olin GC, Alma Y. CD14 C(-159)T polymorphism is a risk factor for development of pulmonary tuberculosis. J Infect Dis 2007;196:1698-706.
76. Arbour NC, Lorenz E, Schutte BC, Zabner J, Kline JN, Jones M. TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat Genet 2000;25:187-91.
77. Lorenz E, Mira JP, Frees KL, Schwartz DA. Relevance of mutations in the TLR4 receptor in patients with gram-negative septic shock. Arch Intern Med 2002;162:1028-32.
78. Hawn TR, Verbon A, Janer M, Zhao LP, Beutler B, Aderem A. Toll-like receptor 4 polymorphisms are associated with resistance to Legionnaires' disease. Proc Natl Acad Sci USA 2005;102:2487-9.
79. Mockenhaupt FP, Cramer JP, Hamann L et al. Toll-like receptor (TLR) polymorphisms in African children: common TLR-4 variants predispose to severe malaria. Proc Natl Acad Sci USA 2006;103:177-82.
80. Ameziane N, Beillat T, Verpillat P et al. Association of the Toll-like receptor 4 gene Asp299Gly polymorphism with acute coronary events. Arterioscler Thromb Vasc Biol 2003;23:61-4.
81. Takeuchi O, Kawai T, Sanjo H et al. TLR6: a novel member of an expanding toll-like receptor family. Gene 1999;231:59.
82. Shey MS, Randhawa AK, Bowmaker M et al. Single nucleotide polymorphisms in toll-like receptor 6 are associated with altered lipopeptide- and mycobacteria-induced interleukin-6 secretion. Genes Immun 2010;11:561-72.
83. Yonca B, Emmanuelle F, Lisa T, Ozlem E, Moshe A. Cooperation of Toll-like receptor 2 and 6 for cellular activation by soluble tuberculosis factor and Borrelia burgdorferi outer surface protein A lipoprotein: role of Toll-interacting protein and IL-1 receptor signaling Molecules in Toll-like receptor 2 signaling. J Immunol 2001;167:987-94.
84. Randhawa AK, Shey MS, Keyser A et al. Association of human TLR1 and TLR6 deficiency with altered immune responses to BCG vaccination in South African Infants. PLoS Pathog 2011;7:e1002174.
85. Davila S, Hibberd ML, Hari Dass R, et al. Genetic association and expression studies indicate a role of Toll-like receptor 8 in pulmonary tuberculosis. PLoS Genet 2008;4:e1000218.
86. Dalgic N, Tekin D, Kayaalti Z, Cakir E, Soylemezoglu T, Sancar M. Relationship between Toll-like receptor 8 gene polymorphisms and pediatric pulmonary tuberculosis. Dis Markers 2011;31:33-8.
87. Du X, Poltorak A, Wei Y, Beutler B. Three novel mammalian toll-like receptors: gene structure, expression, and evolution. Eur Cytokine Netw 2000;11:362-71.
88. Krieg AM. CpG motifs in bacterial DNA and their immune effects. Annu Rev Immunol 2002;20:709-60.
89. Bafica A, Scanga CA, Feng CG, Leifer C, Cheever A, Sher A. TLR9 regulates Th1 responses and cooperates with TLR2 in mediating optimal resistance to Mycobacterium tuberculosis. J Exp Med 2005;202:1715-24.
90. Pompei L, Jang S, Zamlynny B et al. Disparity in IL-12 release in dendritic cells and macrophages in response to Mycobacterium tuberculosis is due to use of distinct TLRs. J Immunol 2007;178:5192-9.
91. Lazarus R, Klimecki WT, Raby BA et al. Single-nucleotide polymorphisms in the Toll-like receptor 9 gene (TLR9): frequencies, pairwise linkage disequilibrium, and haplotypes in three U.S. ethnic groups and exploratory case-control disease association studies. Genomics 2003;81:85-91.
92. Kobayashi K, Yuliwulandari R, Yanai H et al. Association of TLR polymorphisms with development of tuberculosis in Indonesian females. Tissue Antigens 2012;79:190-7.
93. Selvaraj P, Harishankar M, Brijendra S, Jawahar MS, Banurekha VV. Toll-like receptor and TIRAP gene polymorphisms in pulmonary tuberculosis patients of South India. Tuberculosis 2010;90:306-10.
94. Carvalho A, Osorio NS, Saraiva M et al. The C allele of rs5743836 polymorphism in the human TLR9 promoter links IL-6 and TLR9 up-regulation and confers increased B-cell proliferation. PLoS ONE 2011;6:e28256.
95. Omueti KO, Mazur DJ, Thompson KS, Lyle EA, Tapping RI. The polymorphism P315L of human Toll-like receptor 1 impairs innate immune sensing of microbial cell wall components. J Immunol 2007;178:6387-94.
96. Najmi N, Kaur G, Sharma SK, Mehra NK. Human Toll-like receptor 4 polymorphisms TLR4 Asp299Gly and Thr399Ile influence susceptibility and severity of pulmonary tuberculosis in the Asian Indian population. Tissue Antigens 2010;76:102-9.
97. O'Neill LAJ, Bryant CE, Doyle SL. Therapeutic targeting of Toll-like receptors for infectious and inflammatory diseases and cancer. Pharmacol Rev 2009;61:177-97.