Impact of the -308 TNF promoter polymorphism on the transcriptional regulation of the TNF gene: Relevance to disease

Journal of Leukocyte Biology

Volumn 66, Issue 4, 1999, Pages 562-566

  Abraham, Lawrence J ^a   Kroeger, Karen M ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

3'UTR; Diabetes; Malaria; Transcription

Indexed keywords

TUMOR NECROSIS FACTOR;

ALLELE; BINDING SITE; GENE EXPRESSION; GENE INDUCTION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HUMAN; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BINDING; REVIEW; TRANSCRIPTION REGULATION;

EID: 0032881603     PISSN: 07415400     EISSN: None     Source Type: Journal    
DOI: 10.1002/jlb.66.4.562     Document Type: Review

References (42)

1. Wilson, A. G., di Giovine, F. S., Blakemore, A. I. F., Duff, G. W. (1992) Single base change in the human tumor necrosis factor alpha (TNF-α) gene detectable by Neol restriction of a PCR product. Human. Mol. Genet. 1, 353.
2. D'Alfonso, S., Richiardi, P. M. (1994) A polymorphic variation in a putative regulation box of the TNFA promoter region. Immunogenet. 39, 150-154.
3. Hamann, A., Mantzoros, C., Vidal-Puig, A., Flier, J. S. (1995) Genetic variability in the TNF-α promoter is not associated with type II diabetes mellitus (NIDDM). Biochem. Biophys. Res. Commun. 211, 833-839.
4. Uglialoro, A. M., Turbay, D., Pesavento, P. A., McKenzie, F. E., Delgado, J. C., Gribben, J. G., Harti, D., Edmond, J. Y., Goldfeld, A. E. (1998) Identification of three new single nucleotide polymorphisms in the human tumor necrosis factor-alpha gene promoter. Tissue Antigens 52, 359-367.
5. Wilson, A. G., de Vries, N., Pociot, F., di Giovine, F. S., van der Putte, L. B. A., Duff, G. W. (1993) An allelic polymorphism within the human tumor necrosis factor α promoter region is strongly associated with HLA-Al, B8, DR3 alleles. J. Exp. Med. 177, 557-560.
6. Jacob, C. O., Fronek, Z., Lewis, G. D., Koo, M., Hansen, J. A., McDevitt, H. O. (1990) Heritable major histocompatibility complex class II-associated differences in production of tumor necrosis factor α: relevance to genetic predisposition to systemic lupus erythematosus. Proc. Natl. Acad. Sci. USA 87, 1233-1237.
7. Abraham, L. J., French, M. A. H., Dawkins, R. L. (1993) Polymorphic MHC ancestral haplotypes affect the activity of tumor necrosis factor alpha. Clin. Exp. Immunol. 92, 14-18.
8. Pociot, F., Briant, L., Jongeneel, C. V., Molvig, J., Worsaae, H., Abbal, M., Thomsen, M., Neurp, J., Cambon-Thomsen, A. (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.
9. Candore, G., Cigna, D., Gervasi, F., Colucci, A. T., Modica, M. A., Caruso, C. (1994) In vitro cytokine production by HLA-B8,DR3 positive subjects. Autoimmunity 18, 121-132.
10. Wilson, A. G., Gordon, C., di Giovine, F. S., de Vries, N., van de Putte, L. B. A., Emery, P., Duff, G. W. (1994) A genetic association between systemic lupus erythamatosus and tumor necrosis factor alpha. Eur. J. Immunol. 24, 191-195.
11. Bouma, G., Crusius, J. B. A., Pool, M. O., Kolkman, J. J., Von Blomberg, B. M. E., Kostense, P. J., Giphart, M. J., Schreuder, G. M. T., Meuwissen, S. G. M., Peña, A. S. (1996) Secretion of tumor 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.
12. McGuire, W., Hill, A. V. S., Allsopp, C. E. M., Greenwood, B. M., Kwiatkowski, D. (1994) Variation in the TNF-α promoter region associated with susceptibility to cerebral malaria. Nature 371, 508-511.
13. Cabrera, M., Shaw, M-A., Sharples, C., Williams, H., Castes, M., Convit, J., Blackwell, J. M. (1995) Polymorphism in tumor necrosis factor genes associated with mucocutaneous leishmaniasis. J. Exp. Med. 182, 1259-1264.
14. Kwiatkowski, D., Hill, A. V. S., Sambou, I., Twumasi, P., Castracane, J., Manogue, K. R., Cerami, A., Brewster, D. R., Greenwood, B. M. (1990) TNF concentration in fatal cerebral malaria, non-fatal cerebral, and uncomplicated Plasmodium falciparum malaria. Lancet 336, 1201-1204.
15. Castes, M., Trujillo, D., Rojas, M. E., Fernandez, C. T., Araya, L., Cabrera, M., Blackwell, J., Convit, J. (1993) Serum levels of tumor necrosis factor in patients with American cutaneous leishmaniasis. Biol. Res. 26, 233-238.
16. Smith, J. D., Brinton, E. A., Breslow, J. L. (1992) Polymorphism in the human apolipoprotein A-1 gene promoter region. Association of the minor allele with decreased production rate in vivo and promoter activity in vitro. J. Clin. Invest. 89, 1796-1800.
17. Watanabe, J., Hayashi, S-I., Kawajiri, K. (1994) Different regulation and expression of the human CYP2E1 gene due to the RsaI polymorphism in the 5' flanking region. J. Biochem. 116, 321-326.
18. Karpe, F., Lundahl, B., Ehrenborg, E., Eriksson, P., Hamsten, A. (1998) A common functional polymorphism in the promoter region of the microsomal trigyceride transfer protein gene influences plasma LDL levels. Arterioscler. Thromb. Vasc. Biol. 18, 756-761.
19. Kroeger, K. M., Abraham, L. J. (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.
20. Kroeger, K. M., Carville, K. S., Abraham, L. J. (1997) The -308 tumor necrosis factor-a promoter polymorphism effects transcription. Mol. Immunol. 34, 391-399.
21. Wu, W-S., McClain, K. L. (1997) DNA polymorphisms and mutations of the tumor necrosis factor-α (TNF-α) promoter in Langerhans cell histiocytosis (LCH). J. Interferon Cytokine Res. 17, 631-635.
22. Wilson, A. G., Symons, J. A., McDowell, T. L., McDevitt, H. O., Duff, G. W. (1997) Effects of a polymorphism in the human tumor necrosis factor α promoter on transcriptional activation. Proc. Natl. Acad. Sci. USA 94, 3195-3199.
23. Sariban, E., Imamura, K., Luebbers, R., Kufe, D. (1988) Transcriptional and post-transcriptional regulation of tumor necrosis factor gene expression in human monocytes. J. Clin. Invest. 81, 1506-1510.
24. Jongeneel, C. V. (1995) Transcriptional regulation of the tumor necrosis factor α gene. Immunobiol. 193, 210-216.
25. Economou, J. S., Rhoades, K., Essner, R., McBride, W. H., Gasson, J. C., Morton, D. L. (1989) Genetic analysis of the human tumor necrosis factor α/cachectin promoter region in a macrophage cell line. J. Exp. Med. 170, 321-326.
26. Fong, C-L. W., Siddiqui, A. H., Mark, D. F. (1994) Identification and characterisation of a novel represser site in the human tumor necrosis factor a gene. Nucleic Acids Res. 22, 1108-1114.
27. Huang, Q. R., Morris, D., Manolios, N. (1997) Identification and characterisation of polymorphisms in the promoter region of the human Apo-1/Fas (CD95) gene. Mol. Immunol. 34, 577-582.
28. Yamada, K., Yuan, X., Ishiyama, S., Ichikawa, F., Kohno, S., Shoji, S., Hayashi, H., Nonaka, K. (1998) Identification of a single nucleotide insertion polymorphism in the upstream region of the insulin promoter factor-1 gene: an association study with diabetes mellitus. Diabetologia 41, 603-605.
29. Hayashi, S., Watanabe, J., Kawajiri, K. (1991) Genetic polymorphisms in the 5'-flanking region change transcriptional regulation of the human cytochrome P450IIe1 gene. J. Biol. Chem. 110, 559-565.
30. Segall, M., Bach, F. H. (1990) HLA and disease: the perils of simplification. N. Engl. J. Med. 322, 1879-1880.
31. Stuber, F., Udalova, I. A., Book, M., Drutskaya, L. N., Kuprash, D. V., Turetskaya, R. L., Schade, F. U., Nedospasov, S. A. (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.
32. Braun, N., Michel, U., Ernst, B. P., Metzner, R., Bitsch, A., Weber, A., Rieckmann, P. (1996) Gene polymophism 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.
33. Brinkman, B. M. N., Zuijdgest, D., Kaijzel, E., L., Breedveld, F. C., Verweij, C. L. (1996) Relevance of the tumor necrosis factor alpha (TNF-α) -308 promoter polymorphism in TNF-α gene regulation. J. Inflamm. 46, 32-41.
34. Kuprash, D. V., Udalova, I. A., Turelskaya, R. L., Kwiatkowski, D., Rice, N. R., Nedospasov, S. A. (1999) Similarities and differences between human and murine TNF promoters in their response to lipopolysaccharide. J. Immunol. 162, 4045-4052.
35. Goldfeld, A. E., Strominger, J. L., Doyle, C. (1991) Human tumor necrosis factor α gene regulation in phorbol ester stimulated T and B cell lines. J. Exp. Med. 174, 73-81.
36. Rhoades, K. L., Golub, S. H., Economou, J. S. (1992) The regulation of the human tumor necrosis factor α promoter region in macrophage, T cell, and B cell lines. J. Biol. Chem. 267, 22102-22107.
37. Tsai, E. Y., Yie, J., Thanos, D., Goldfeld, A. E. (1996) Cell-type-specific regulation of the human tumor necrosis factor alpha gene in B cells and T cells by NFATp and ATF-2/Jun. Mol. Cell. Biol. 16, 5232-5244.
38. Yao, J., Mackman, N., Edington, T. S., Fan, S-T. (1997) Lipopolysaccharide induction of the tumor necrosis factor-α promoter in human moncytic cells: regulation by Egr-1, c-Jun, and NF-κβ transcription factors. J. Biol. Chem. 272, 17795-17801.
39. Kroeger, K. M., Steer, J. H., Joyce, D. A., Abraham, L. J. (1999) Effects of stimulus and cell type on the expression of the -308 TNF-α promoter polymorphism. Cytokine, in press.
40. Hussain, M. J., Peakman, M., Gallati, H., Lo, S. S. S., Hawa, M., Viberti, G. C., Watkins, P. J., Leslie, R. D. G., Vergani, D. (1996) Elevated serum levels of macrophage-derived cytokines precede and accompany the onset of IDDM. Diabetologia 39, 60-69.
41. Dahlen, E., Dawe, K., Ohlsson, L., Hedlund, G. (1998) Dendritic cells and macrophages are the first and major producers of TNF-α in pancreatic islets in the nonobese diabetic mouse. J. Immunol. 160, 3585-3593.
42. Sullivan, K. E., Wooten, C., Schmeckpeper, B. J., Goldman, D., Petri, M. A. (1997) A promoter polymorphism of tumor necrosis factor α associated with systemic lupus erythematosus in African-Americans. Arthritis Rheumatism 40, 2207-2211.