Common polymoiphisms in the NOD2 gene region are associated with leprosy and Its reactive states

Journal of Infectious Diseases

Volumn 201, Issue 9, 2010, Pages 1422-1435

  Berrington, William Richard ^a   Macdonald, Murdo ^d   Khadge, Saraswoti ^d   Sapkota, Bishwa Raj ^d   Janer, Marta ^b   Hagge, Deanna Alisa ^d   Kaplan, Gilla ^c   Hawn, Thomas Richard ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b INSTITUTE FOR SYSTEMS BIOLOGY   (United States)

^c PUBLIC HEALTH RESEARCH INSTITUTE   (United States)

^d Anandaban Leprosy Hospital   (Nepal)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15; NOD2 PROTEIN, HUMAN;

ADULT; ARTICLE; BACTERIUM DETECTION; CONTROLLED STUDY; DISEASE PREDISPOSITION; ERYTHEMA NODOSUM LEPROSUM; FEMALE; GENE FREQUENCY; HUMAN; LEPROSY; MAJOR CLINICAL STUDY; MALE; MYCOBACTERIUM; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PROTEIN POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; ALLELE; CASE CONTROL STUDY; ERYTHEMA NODOSUM; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HAPLOTYPE; LEPROMATOUS LEPROSY; MIDDLE AGED; NEPAL; PHYSIOLOGY;

ADULT; ALLELES; CASE-CONTROL STUDIES; ERYTHEMA NODOSUM; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; LEPROSY; LEPROSY, LEPROMATOUS; MALE; MIDDLE AGED; NEPAL; NOD2 SIGNALING ADAPTOR PROTEIN; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 77950954449     PISSN: 00221899     EISSN: None     Source Type: Journal    
DOI: 10.1086/651559     Document Type: Article

References (50)

1. Scollard DM, Adams LB, Gillis TP, Krahenbuhl JL, Truman RW, Williams DL. The continuing challenges of leprosy. Clin Microbiol Rev 2006;19:338-381.
2. Britton WJ, Lockwood DN. Leprosy. Lancet 2004;363:1209-1219.
3. Sieling PA, Modlin RL. Cytokine patterns at the site of mycobacterial infection. Immunobiology 1994;191:378-387.
4. Chakravartti MR, Vogel F. A twin study on leprosy. In: Topics in human genetics. Vol.1. Stuttgart, Germany: Georg Thieme Publishers, 1973: 1-23.
5. Alter A, Alcaïs A, Abel L, Schurr E. Leprosy as a genetic model for susceptibility to common infectious diseases. Hum Genet 2008; 123: 227-235. (Pubitemid 351820699)
6. Mira MT, Alcaïs A, Nguyen VT, et al. Susceptibility to leprosy is associated with PARK2 and PACRG. Nature 2004;427:636-640.
7. Alcaïs A, Alter A, Antoni G, et al. Stepwise replication identifies a lowproducing lymphotoxin-a allele as a major risk factor for early-onset leprosy. Nat Genet 2007;39:517-522. (Pubitemid 46514779)
8. Pereira AC, Brito-de-Souza VN, Cardoso CC, et al. Genetic, epidemiological and biological analysis of interleukin-10 promoter singlenucleotide polymorphisms suggests a definitive role for -819C/T in leprosy susceptibility. Genes Immun 2009;10:174-180.
9. Fernando SL, Britton WJ. Genetic susceptibility to mycobacterial disease in humans. Immunol Cell Biol 2006;84:125-137. (Pubitemid 43344666)
10. Kaplan G, Weinstein DE, Steinman RM., et al. An analysis of in vitro T cell responsiveness in lepromatous leprosy. J Exp Med 1985; 162: 917-929. (Pubitemid 16248199)
11. Johnson CM, Lyle EA, Omueti KO, et al. Cutting edge: a common polymorphism impairs cell surface trafficking and functional responses of TLR1 but protects against leprosy. J Immunol 2007; 178:7520-7524.
12. Bochud PY, Sinsimer D, Aderem A, et al. Polymorphisms in Toll-like receptor 4 are associated with protection against leprosy. Eur J Clin Microbiol Infect Dis 2009;28:1055-1065. (Pubitemid 351263444)
13. de Messias-Reason IJ, Boldt AB, Moraes Braga AC, et al. The association between mannan-binding lectin gene polymorphism and clinical leprosy: new insight, into an old paradigm. J Infect Dis 2007; 196:1379-1385.
14. Dornelles LN, Pereira-Ferrari L, Messias-Reason I. Mannan-binding lectin plasma levels in leprosy: deficiency confers protection against the lepromatous but not the tuberculoid forms. Clin. Exp Immunol 2006; 145:463-468. (Pubitemid 44252488)
15. 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;170:3451-3454. (Pubitemid 36359209)
16. Misch EA, Macdonald M, Ranjit C, et al. Human TLR1 deficiency is associated with impaired mycobacterial signaling and protection from leprosy reversal reaction. PLoS Negl Trop Dis 2008;2:e231. (Pubitemid 352002910)
17. Ting JP, Davis BK. CATERPILLER: a novel gene family important in immunity, cell death, and diseases. Annu Rev Immunol 2005; 23:387-414.
18. Le Bourhis L, Benko S, Girardin SE. Nodi and Nod2 in innate immunity and human inflammatory disorders. Biochem Soc Trans 2007;35:1479-1484.
19. Russell D, Mwandumba HC, Rhoades EE. Mycobacterium and the coat of many lipids. J Cell Biol 2002; 158:421-1126
20. van der Wel N, Hava D, Houben D, et al. M. tuberculosis and M. leprae translocate from the phagolysosome to the cytosol in myeloid cells. Cell 2007;129:1287-1298.
21. Geluk A, van Meijgaarden KE, Franken KL, et al. Immunological crossreactivity of the Mycobacterium leprae CFP-10 with its homologue in Mycobacterium tuberculosis. Scand J Immunol 2004;59:66-70.
22. Koo IC, Wang C, Raghavan S, Morisaki JH, Cox JS, Brown EJ. ESX1-dependent cytolysis in lysosome secretion and inflammasome activation during mycobacterial infection. Cell Microbiol 2008; 10:1.866-1878.
23. Franchi. L, Park JH, Shaw MH, et al. Intracellular NOD-like receptors in innate immunity, infection and disease. Cell Microbiol 2008; 10:1-8. (Pubitemid 350239051)
24. 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. (Pubitemid 32531409)
25. 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. (Pubitemid 32531408)
26. Selby W, Pavli P, Crotty B, et al. Two-year combination antibiotic therapy with clarithromycin, rifabutin, and clofazimine for Crohn's disease. Gastroenterology 2007; 132:2313-2319. (Pubitemid 46890859)
27. Behr MA, Hanley J. Antimycobacterial therapy for Crohn's disease: a reanalysis. Lancet Infect Dis 2008; 8:344. (Pubitemid 351697798)
28. Austin CM, Ma X, Graviss EA. Common nonsynonymous polymorphisms in the NOD2 gene are associated with resistance or susceptibility to tuberculosis disease in African Americans. J Infect Dis 2008 197:1713-1716. (Pubitemid 351919636)
29. Ferwerda G, Kullberg BJ, de Jong DJ, et al. Mycobacterium paratuberculosis is recognized by Toll-like receptors and NOD2. J Leukoc Biol 2007;82:1011-1018.
30. Ferwerda G, Girardin SE, Kullberg BJ, et al. NOD2 and Toll-like receptors are nonredundant recognition systems of Mycobacterium tuberculosis. PLoS Pathog 2005;1:279-285.
31. Divangahi M, Mostowy S, Coulombe F, et al. NOD2-deficient mice have impaired resistance to Mycobacterium tuberculosis infection through defective innate and adaptive immunity. J Immunol 2008; 181:7157-7165.
32. Gandotra S, Jang S, Murray PJ, Salgame P, Ehrt S. Nucleotide-binding oligomerization domain protein 2-deficient mice control infection with Mycobacterium tuberculosis. Infect Immun 2007; 75:5127-5134.
33. Attia J, Ioannidis JP, Thakkinstian A, et al. How to use an article about genetic association. B. Are the results of the study valid? JAMA 2009; 301:191-197.
34. Bochud PY, Hawn T, Siddiqui MR, et al. Toll-like receptor 2 (TLR2) polymorphisms are associated with reversal reaction in leprosy. J Infect Dis 2008; 197:253-261. (Pubitemid 351263444)
35. Yamamura M, Wang XH, Ohmen JD, et al. Cytokine patterns of immunologically mediated tissue damage. J Immunol 1992; 149:1470-1475.
36. Modlin RL, Gebhard JF, Taylor CR, Rea TH. In situ characterization of T lymphocyte subsets in the reactional states of leprosy. Clin Exp Immunol 1983;53:17-24.
37. Wemambu SN, Turk JL, Waters MF, Rees RJ. Erythema nodosum leprosum: a clinical manifestation of the arfhus phenomenon. Lancet 1969;2:933-935.
38. Tada H, Aiba. S, Shibata K, Ohteki T, Takada H. Synergistic effect of Nodi and Nod2 agonists with Toll-like receptor agonists on human dendritic cells to generate interleukin-12 and T helper type 1 cells. Infect Immun 2005;73:7967-7976. (Pubitemid 41740282)
39. Magalhaes JG, Fritz JH, Le Bourhis L, et al. Nod2-dependent Th2 polarization of antigen-specific immunity. J Immunol 2008; 181:7925-7935.
40. Mahapatra S, Crick DC, McNeil MR, Brennan PJ. Unique structural features of the peptidoglycan of Mycobactenum leprae, J Bacteriol 2008; 190:655-661.
41. Yang Z, Fuss IJ, Watanabe T, et al. NOD2 transgenic mice exhibit enhanced MDP-mediated down-regulation of TLR2 responses and resistance to colitis induction. Gastroenterology 2007;133:1510-1521. (Pubitemid 350029733)
42. Watanabe T, Kitani A, Murray PJ, Strober W NOD2 is a negative regulator of Toll-like receptor 2-mediated T helper type 1 responses. Nat Immunol 2004; 5:800-808. (Pubitemid 39172973)
43. Bochud PY, Hawn TR, Siddiqui MR, et al. Toll-like receptor 2 (TLR2) polymorphisms are associated with reversal reaction in leprosy. J Infect Dis 2008; 197:253-261.
44. Lim JH, Ha UH, Woo CH, Xu H, Li JD. CYLD is a crucial negative regulator of innate immune response in Escherichia coli pneumonia. Cell Microbiol 2008;10:2247-2256.
45. + hematopoietic progenitor cells. J Cell Biol 1996; 135: 523-531.
46. Lim JH, Stirling B, Derry J, et al. Tumor suppressor CYLD regulates acute lung injury in lethal Streptococcus pneumoniae infections. Immunity 2007;27:349-360.
47. Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001;29:19-20.
48. Ahrens P, Kattner E, Köhler B, et al. Mutations of genes involved in the innate immune system as predictors of sepsis in very low birth weight infants. Pediatr Res 2004; 55:652-656. (Pubitemid 38405853)
49. Stockton JC, Howson JM, Awomoyi AA, McAdam KP, Blackwell JM, Newport MJ. Polymorphism in NOD2, Crohn's disease, and susceptibility to pulmonary tuberculosis. FEMS Immunol Med Microbiol 2004;41:157-160.
50. Möller M, Nebel A, Kwiatkowski R, van Helden PD, Hoal EG, Schreiber S. Host susceptibility to tuberculosis: CARD15 polymorphisms in a South African population. Mol Cell Probes 2006;21:148-151.