Association between the tumor necrosis factor locus and the clinical outcome of Leishmania chagasi infection

Infection and Immunity

Volumn 70, Issue 12, 2002, Pages 6919-6925

  Karplus, Theresa M ^a,f   Jeronimo, Selma M B ^b   Chang, Haeok ^a   Helms, Bethany K ^a   Burns, Trudy L ^c   Murray, Jeffrey C ^a   Mitchell, Adele A ^d,g   Pugh, Elizabeth W ^d   Braz, Regina F S ^b   Bezerra, Fabiana L ^b   Wilson, Mary E ^a,c,e  

^a UNIVERSITY OF IOWA   (United States)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO NORTE   (Brazil)

^c UNIVERSITY OF IOWA   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e VETERANS AFFAIRS MEDICAL CENTER   (United States)

^f Vancouver Clinic   (United States)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LYMPHOTOXIN; TUMOR NECROSIS FACTOR; TUMOR NECROSIS FACTOR ALPHA;

ARTICLE; BRAZIL; DISEASE ASSOCIATION; DISEASE COURSE; EPIDEMIC; GENE LOCUS; HUMAN; LEISHMANIA CHAGASI; LEISHMANIASIS; MAJOR CLINICAL STUDY; MARKER GENE; MICROSATELLITE MARKER; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADULT; ALLELES; ANIMALS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FAMILY; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERSENSITIVITY, DELAYED; LEISHMANIA INFANTUM; LEISHMANIASIS, VISCERAL; LYMPHOTOXIN-ALPHA; MALE; MICROSATELLITE REPEATS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TUMOR NECROSIS FACTOR-ALPHA;

EID: 0036892193     PISSN: 00199567     EISSN: None     Source Type: Journal    
DOI: 10.1128/IAI.70.12.6919-6925.2002     Document Type: Article

References (64)

1. Alcais, A., L. Abel, C. David, M. E. Torrez, P. Flandre, and J. P. Dedet. 1997. Evidence for a major gene controlling susceptibility to tegumentary leishmaniasis in a recently exposed Bolivian population. Am. J. Hum. Genet. 61:968-979.
2. Allen, R. D. 1999. Polymorphism of the human TNF-α promoter-random variation or functional diversity? Mol. Immunol. 36:1017-1027.
3. Altare, F., A. Durandy, D. Lammas, J.-F. Emile, S. Lamhamedi, F. Le Deist, P. Drysdale, E. Jouanguy, R. Doffinger, F. Bernaudin, O. Jeppsson, J. A. Gollob, E. Meinl, A. W. Segal, A. Fischer, D. Kumararatne, and J.-L. Casanova. 1998. Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. Science 280:1432-1435.
4. Altare, F., D. Lammas, P. Revy, E. Jouanguy, R. Doffinger, S. Lamhamedi, P. Drysdale, D. Scheel-Toellner, J. Girdlestone, and P. Darbyshire. 1998. Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection. J. Clin. Investig. 102:2035-2040.
5. Badaro, R., T. C. Jones, E. M. Carvalho, D. Sampaio, S. G. Reed, A. Barral, R. Teixeira, and W. D. Johnson, Jr. 1986. New perspectives on a subclinical form of visceral leishmaniasis. J. Infect. Dis. 154:1003-1011.
6. Barral-Netto, M., R. Badaro, A. Barral, R. P. Almeida, S. B. Santos, F. Badaro, D. Pedral-Sampaio, E. M. Carvalho, E. Falcoff, and R. Falcoff. 1991. Tumor necrosis factor (cachectin) in human visceral leishmaniasis. J. Infect. Dis. 163:853-857.
7. Bellamy, R., C. Ruwende, T. Corrah, K. P. McAdam, H. C. Whittle, and A. V. Hill. 1999. Tuberculosis and chronic hepatitis B virus infection in Africans and variation in the vitamin D receptor gene. J. Infect. Dis. 179:721-724.
8. Bellamy, R., C. Ruwende, T. Corrah, K. P. McAdam, H. C. Whittle, and A. V. S. Hill. 1998. Variations in the NRAMP1 gene and susceptibility to tuberculosis in West Africans. N. Engl. J. Med. 338:640-644.
9. Beutler, B. A. 1999. The role of tumor necrosis factor in health and disease. J. Rheumatol. 26(Suppl. 57):16-21.
10. Blackwell, J. M. 1996. Genetic susceptibility to leishmanial infections: Studies in mice and man. Parasitology 112:S67-S74.
11. Blackwell, J. M. 1998. Genetics of host resistance and susceptibility to intramacrophage pathogens: A study of multicase families of tuberculosis, leprosy and leishmaniasis in northeastern Brazil. Int. J. Parasitol. 28:21-28.
12. Blackwell, J. M., G. F. Black, C. S. Peacock, E. N. Miller, D. Sibthorpe, D. Gnananandha, J. J. Shaw, F. Silveira, Z. Lins-Lainson, F. Ramos, A. Collins, and M.-A. Shaw. 1997. Immunogenetics of leishmanial and mycobacterial infections: The Belem family study. Philos. Trans. R. Soc. Lond. B Biol. Sci. 352:1331-1345.
13. Blackwell, J. M., G. F. Black, C. Sharples, S.-S. Soo, C. S. Peacock, and N. E. Miller. 1999. Roles of Nramp1, HLA, and the gene(s) in allelic association with IL-4, in determining T helper subset differentiation. Microbes Infect. 1:95-102.
14. Bloughman, L. M., and M. Boehnke. 1989. Estimating the power for a proposed linkage study for a complex genetic trait. Am. J. Hum. Genet. 44:543-551.
15. Bouma, G., J. B. A. Crusius, M. O. Pool, J. J. Kolkman, B. M. E. Von Blomberg, P. J. Kostense, M. J. Giphart, G. M. T. Schreuder, S. G. M. Meuwissen, and A. S. Pena. 1996. Secretion of tumour necrosis factor α and lymphotoxin α in relation to polymorphisms in the TNF genes and HLA-DR alleles. Relevance for inflammatory bowel disease. Scand. J. Immunol. 43:456-463.
16. Braun, N., U. Michel, B. P. Ernst, R. Metzner, A. Bitsch, F. Weber, and P. Reickman. 1996. Gene polymorphism at position -308 of the tumor necrosis factor-α (TNF-α) in multiple sclerosis and its influence on the regulation of TNF-α production. Neurosci. Lett. 215:75-78.
17. Braz, R. F. S., E. T. Nascimento, D. R. A. Martins, M. E. Wilson, R. D. Pearson, S. G. Reed, and S. M. B. Jeronimo. The sensitivity and specificity of Leishmania chagasi recombinant K39 antigen in the diagnosis of American visceral leishmaniasis and in differentiating active from subclinical infection. Am. J. Trop. Med. Hyg., in press.
18. Brinkman, B. M. N., D. Zuijdgeest, E. L. Kaijzel, F. C. Breedveld, and C. L. Verweij. 1996. Relevance of the tumor necrosis factor alpha (TNFα) -308 promoter polymorphism in TNFα gene regulation. J. Inflamm. 46:32-41.
19. Cabello, P. H., A. M. Lima, E. S. Azevedo, and H. Krieger. 1995. Familial aggregation of Leishmania chagasi infection in northeastern Brazil. Am. J. Trop. Med. Hyg. 52:364-365.
20. Cabrera, M., M. A. Shaw, C. Sharples, H. Williams, M. Castes, J. Convit, and J. M. Blackwell. 1995. Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis. J. Exp. Med. 182:1259-1264.
21. Cerf, B. J., T. C. Jones, R. Badaro, D. Sampaio, R. Teixeira, and W. D. Johnson, Jr. 1987. Malnutrition as a risk factor for severe visceral leishmaniasis. J. Infect. Dis. 156:1030-1033.
22. Chiofalo, M. S., D. Delfino, G. Mancuso, E. La Tassa, P. Mastroeni, and D. Iannello. 1992. Induction of tumor necrosis factor α by Leishmania infantum in murine macrophages from different inbred mice strains. Microb. Pathog. 12:9-17.
23. Corral, L. G. and G. Kaplan. 1999. Immunomodulation by thalidomide and thalidomide analogues. Ann. Rheum. Dis. 58(Suppl. 1):1107-1113.
24. Danis, V. A., M. Millington, V. Hyland, R. Lawford, Q. Huang, and D. Grennan. 1994. Increased frequency of the uncommon allele of the tumour necrosis factor alpha gene polymorphism in rheumatoid arthritis and systemic lupus erythematosus. Dis. Markers 12:127-133.
25. de Jong, R., F. Altare, I.-A. Haagen, D. G. Elferink, T. de Boer, P. J. C. van Breda Vriesman, P. J. Kabel, J. M. T. Draaisma, J. T. van Dissel, F. P. Kroon, J.-L. Casanova, and T. H. M. Ottenhoff. 1998. Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. Science 280:1435-1438.
26. Evans, T. G., E. C. Krug, M. E. Wilson, A. W. Vasconcelos, J. E. de Alencar, and R. D. Pearson. 1989. Evaluation of antibody responses in American visceral leishmaniasis by ELISA and immunoblot. Mem. Inst. Oswaldo Cruz 84:157-166.
27. Evans, T. G., I. A. B. Vasconcelos, J. W. Lima, J. M. Teixeira, T. McAullife, U. G. Lopes, R. D. Pearson, and A. W. Vasconcelos. 1990. Canine visceral leishmaniasis in northeast Brazil: Assessment of serodiagnostic methods. Am. J. Trop. Med. Hyg. 42:118-123.
28. Feitosa, M. F., E. Axevedo, A. M. Lima, and H. Krieger. 1999. Genetic causes involved in Leishmania chagasi infection in northeastern Brazil. Genet. Mol. Biol. 22:1-5.
29. Foster, C. B., T. Lehrnbecher, F. Mol, S. M. Steinberg, D. J. Venzon, T. J. Walsh, D. Noack, J. Rae, J. A. Winkelstein, J. T. Curnutte, and S. J. Chanock. 1998. Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. J. Clin. Investig. 102:2146-2155.
30. Hajeer, A. H., and I. V. Hutchinson. 2000. TNF-α gene polymorphism: Clinical and biological implications. Microsc. Res. Tech. 50:216-228.
31. Harrison, L. H., T. G. Naidu, J. S. Drew, J. E. de Alencar, and R. D. Pearson. 1986. Reciprocal relationships between undernutrition and the parasitic disease visceral leishmaniasis. Rev. Infect. Dis. 8:447-453.
32. Huizinga, T. W. J., R. G. L. Westendorp, E. L. Bollen, V. Keijsers, B. M. N. Brinkman, J. A. M. Langermans, F. C. Breedveld, C. L. Verweij, L. Van de Gaer, L. Dams, J. B. A. Crusuis, A. Garcia-Gonzalez, B. W. Van Oosten, C. H. Polman, and A. S. Pena. 1997. TNF-α promoter polymorphisms, production and susceptibility to multiple sclerosis in different groups of patients. J. Neuroimmunol. 72:149-153.
33. Jeronimo, S. M. B., R. M. Oliveira, S. Mackay, R. M. Costa, J. Sweet, E. T. Nascimento, K. G. Luz, M. Z. Fernandes, J. Jernigan, and R. D. Pearson. 1994. An urban outbreak of visceral leishmaniasis in Natal, Brazil. Trans. R. Soc. Trop. Med. Hyg. 88:386-388.
34. Jeronimo, S. M. B., M. J. Teixeira, A. D. Q. Sousa, P. Thielking, R. D. Pearson, and T. G. Evans. 2000. Natural history of Leishmania (Leishmania) chagasi infection in northeastern Brazil: Long-term follow-up. Clin. Infect. Dis. 30:608-609.
35. Jongeneel, C. V., L. Briant, I. A. Udalova, A. Sevin, S. A. Nedospasov, and A. Cambon-Thomsen. 1991. Extensive genetic polymorphism in the human tumor necrosis factor region and relation to extended HLA haplotypes. Proc. Natl. Acad. Sci. USA 88:9717-9721.
36. Jouanguy, E., F. Altare, S. Lamhamedi, P. Revy, J.-F. Emile, M. Newport, M. Levin, S. Blanche, E. Seboun, A. Fischer, and J.-L. Casanova. 1996. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. N. Engl. J. Med. 335:1956-1961.
37. Kremsner, P. G., H. Grundmann, S. Neifer, K. Sliwa, G. Sahlmuller, B. Hegenschied, and U. Bienzle. 1991. Pentoxifylline prevents murine cerebral malaria. J. Infect. Dis. 164:605-608.
38. Kroeger, K. M., and L. J. Abraham. 1996. Identification of an AP-2 element in the -323 to -285 region of the TNF-α gene. Biochem. Mol. Biol. Int. 40:43-51.
39. Louis, E., D. Franchimont, A. Piron, Y. Gevaert, N. Schaaf-Lafontaine, S. Roland, P. Mahieu, M. Malaise, D. de Groote, R. Louis, and J. Belaiche. 1998. Tumour necrosis factor (TNF) gene polymorphism influences TNF-α production in lipopolysaccharide (LPS)-stimulated whole blood cell culture in healthy humans. Clin. Exp. Immunol. 113:401-406.
40. McGuire, W., A. V. S. Hill, C. E. M. Allsopp, B. M. Greenwood, and D. Kwiatkowski. 1994. Variation in the TNF-α promoter region associated with susceptibility to cerebral malaria. Nature 371:508-511.
41. Mycko, M., W. Kowalski, M. Kwinkowski, A. C. Buenafe, B. Szymanska, E. Tronczynska, A. Plucienniczak, and K. Selmaj. 1998. Multiple sclerosis: The frequency of allelic forms of tumor necrosis factor and lymphotoxin-α. J. Neuroimmunol. 84:198-206.
42. Nedospasov, S. A., I. A. Udalova, and D. V. Kuprash. 1991. DNA sequence polymorphism at the human tumor necrosis factor (TNF) locus. J. Immunol. 147:1053-1059.
43. Peacock, C. S., A. Collins, M.-A. Shaw, F. Silveira, J. Costa, C. H. Coste, M. D. Nascimento, R. Siddiqui, J. J. Shaw, and J. M. Blackwell. 2001. Genetic epidemiology of visceral leishmaniasis in northeastern Brazil. Genet. Epidemiol. 20:383-396.
44. Pearson, R. D., and A. D. Q. Sousa. 1996. Clinical spectrum of leishmaniasis. Clin. Infect. Dis. 22:1-13.
45. Pisa, P., M. Gennene, O. Soder, T. Ottenhoff, M. Hansson, and R. Kiessling. 1990. Serum tumor necrosis factor levels and disease dissemination in leprosy and leishmaniasis. J. Infect. Dis. 161:988-991.
46. Pociot, F., L. Briant, C. V. Jongeneel, J. Molvig, H. Worsaae, M. Abbal, M. Thomsen, J. Nerup, and A. Cambon-Thomsen. 1993. Association of tumor necrosis factor (TNF) and class II major histocompatibility complex alleles with the secretion of TNF-α and TNF-β by human mononuclear cells: A possible link to insulin-dependent diabetes mellitus. Eur. J. Immunol. 23:224-231.
47. Pociot, F., A. G. Wilson, J. Nerup, and G. W. Duff. 2000. No independent association between a tumour necrosis factor-alpha promoter region polymorphism and insulin-dependent diabetes mellitus. Eur. J. Immunol. 23:3043-3049.
48. Roy, S., A. Frodsham, B. Saha, S. K. Hazra, C. G. N. Mascie-Taylor, and A. V. S. Hill. 1999. Association of vitamin D receptor genotype with leprosy type. J. Infect. Dis. 179:187-191.
49. Ruuls, S. R., and J. D. Sedgwick. 1999. Unlinking tumor necrosis factor biology from the major histocompatibility complex: lessons from human genetics and animal models. Am. J. Hum. Genet. 65:294-301.
50. Sham, P. C., and D. Curtis. 1995. An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann. Hum. Genet. 59:323-336.
51. Sham, P. C., and D. Curtis. 1998. Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann. Hum. Genet. 59:97-105.
52. Singh, S., A. Gliman-Sachs, K.-P. Chang, and S. G. Reed. 1995. Diagnostic and prognostic value of k39 recombinant antigen in Indian leishmaniasis. J. Parasitol. 8:1000-1003.
53. Stuber, F., I. A. Udalova, M. Book, L. N. Drutskaya, D. V. Kuprash, R. L. Turetskaya, F. U. Schade, and S. A. Nedospasov. 1996. -308 tumor necrosis factor (TNF) polymorphism is not associated with survival in severe sepsis and is unrelated to lipopolysaccharide inducibility of the human TNF promoter. J. Inflamm. 46:42-50.
54. Tumang, M. C. T., C. Keogh, L. L. Moldawer, D. C. Helfgott, R. Teitelbaum, J. Hariprashad, and H. W. Murray. 1994. Role and effect of TNF-α in experimental visceral leishmaniasis. J. Immunol. 153:768-775.
55. Uglialoro, A. M., D. Turbay, P. A. Pesavento, J. C. Delgado, F. E. McKenzie, J. G. Gribben, D. Hartl, E. J. Yunis, and A. E. Goldfeld. 1998. Identification of three new single nucleotide polymorphisms in the human tumor necrosis factor-α gene promoter. Tissue Antigens 52:359-367.
56. Verweij, C. L. 1999. Tumor necrosis factor gene polymorphisms as severity markers in rheumatoid arthritis. Ann. Rheum. Dis. 58(Suppl. 1):120-126.
57. Wilkinson, R. J., P. Patel, M. Llewelyn, C. S. Hirsch, G. Pasvol, G. Snounou, R. N. Davidson, and Z. Toossi. 1999. Influence of polymorphism in the genes for the interleukin (IL)-1 receptor antagonist and IL-1β on tuberculosis. J. Exp. Med. 189:1863-1873.
58. Wilson, A. G. 1999. Genetics of turnout necrosis factor (TNF) in autoimmune liver diseases: Red hot or red herring? J. Hepatol. 30:331-333.
59. Wilson, A. G., N. de Vries, F. Pociot, F. S. di Giovine, L. B. A. van der Putte, and G. W. Duff. 1993. An allelic polymorphism within the human tumor necrosis factor a promoter region is strongly associated with HLA A1, B8, and DR3 alleles. J. Exp. Med. 177:557-560.
60. Wilson, A. G., F. S. di Giovine, A. I. F. Blakemore, and G. W. Duff. 1995. Single base polymorphism in the human tumour necrosis factor alpha (TNFα) gene detectable by NcoI restriction of PCR product. Hum. Mol. Genet. 1:353-357.
61. Wilson, A. G., F. S. di Giovine, and G. W. Duff. 1995. Genetics of turnout necrosis factor-α in autoimmune, infectious, and neoplastic diseases. J. Inflamm. 45:1-12.
62. Wilson, A. G., J. A. Symons, T. L. McDowell, H. O. McDevitt, and G. W. Duff. 1997. Effects of a polymorphism in the human tumor necrosis factor a promoter on transcriptional activation. Proc. Natl. Acad. Sci. USA 94:3195-3199.
63. Ximenes, M. F. F. M., E. G. Castellon, M. F. Souza, R. D. Pearson, M. E. Wilson, and S. M. B. Jeronimo. 2000. Distribution of Phlebotomine sandflies (Diptera: Psychodidae) in the state of Rio Grande do Norte, Brazil. J. Med. Entomol. 37:162-169.
64. Zanelli, E., G. Jones, M. Pascual, P. Eerligh, A. R. van der Slik, A. H. Zwinderman, W. Verduyn, G. M. T. Schreuder, E. Roovers, F. C. Breedveld, R. R. P. de Vries, J. Martin, and M. J. Giphart. 2001. The telomeric part of the HLA region predisposes to rheumatoid arthritis independently of the class II loci. Hum. Immunol. 62:75-84.