The-308.1 polymorphism in the promoter region of the tumor necrosis factor gene is associated with ankylosing spondylitis independent of HLA-B27

Journal of Rheumatology

Volumn 26, Issue 5, 1999, Pages 1110-1116

  McGarry, Frances ^a,b   Walker, Richard ^a   Sturrock, Roger ^a   Field, Max ^a  

^a GLASGOW ROYAL INFIRMARY   (United Kingdom)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

Ankylosing spondylitis; Genetics; Microsatellites; Restriction fragment length polymorphisms; Tumor necrosis factor

Indexed keywords

HLA B27 ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; MICROSATELLITE DNA; TUMOR NECROSIS FACTOR;

ADOLESCENT; ADULT; AGED; ANKYLOSING SPONDYLITIS; ARTHROPATHY; ARTICLE; CONTROLLED STUDY; FEMALE; GENE CLUSTER; GENE FREQUENCY; GENETIC ANALYSIS; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; UNITED KINGDOM; UVEITIS;

EID: 0032913388     PISSN: 0315162X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (38)

1. Brewerton DA, Hart FD, Nicholls A, Caffrey M, James DCO, Sturrock RD. Ankylosing spondylitis and HL-A27. Lancet 1973;1:904-7.
2. Rosenbaum JT. Acute anterior uveitis and spondyloarthropathies. Rheum Dis Clin North Am 1992;18:143-52.
3. Brown MA, Pile KD, Kennedy LG, et al. Genome-wide screen for susceptibility loci in AS. Arthritis Rheum 1998;41:588-96.
4. Braun J, Bollow M, Neure I, et al. Use of immuno-histologic and in situ hybridisation techniques in the examination of sacroiliac joint biopsy specimens from patients with ankylosing spondylitis. Arthritis Rheum 1995;38:499-505.
5. Dunham I, Sargent CA, Trowsdale J, Cambell RD. Molecular mapping of the human major histocompatibility complex by pulsed field gel electrophoresis. Proc Nat Acad Sci USA 1987;84:237-41.
6. Pociot F, Briant L, Jongeneel CV, et al. Association of tumour necrosis factor (TNF) and Class II major histocompatibility complex alleles with the secretion of TNF-α and TNF-b by human mononuclear cells: a possible link to insulin-dependent diabetes mellitus. Eur J Immunol 1993;23:224-31.
7. Pociot F, Molvig J, Wogensen L, et al. A tumour necrosis factor beta gene polymorphism in relation to monokine secretion and insulin-dependent diabetes mellitus. Scand J Immunol 1991;33:37-49.
8. Molvig J, Baek L, Christensen P, et al. Endotoxin stimulated human monocyte secretion of interleukin-1, tumour necrosis factor alpha, and prostaglandin E2 shows stable inter-individual differences. Scand J Immunol 1988;27:705-16.
9. Derkx HHF, Bruin KF, Jongeneel CV, et al. Familial differences in endotoxin-induced TNF release in whole blood and peripheral blood mononuclear cells in vitro; relationship to TNF gene polymorphism. J Endotoxin Res 1995;2:19-25.
10. Bennett PH, Burch TA. Population studies of rheumatic diseases. Excerpta Medica International Congress Series 1968;148:456-7.
11. Kahn MA. Ankylosing spondylitis: clinical features. In: Klippel JH, Dieppe P, editors. Rheumatology. Mosby-Year Book Europe Ltd.; 1997;6.16.1-10.
12. Gallagher G, Eskdale J, Oh HH, et al. Distribution of polymorphic elements within the tumour necrosis factor locus in a Caucasian population. Immunogenetics 1997;45:188-94.
13. Messer G, Sprengler U, Jung MC, et al. Polymorphic structure of the tumour necrosis factor (TNF) locus: an Nco I polymorphism in the first intron of the human TNF-b gene correlates with a variant amino acid in position 26 and a reduced level of TNF-b production. J Exp Med 1991;173:209-19.
14. Wilson AG, Di Giovine FS, Blakemore AIF, Duff GW. Single base change in the human tumour necrosis factor alpha (TNFa) gene detectable by Nco I restriction of the PCR product [abstract]. Hum Mol Genet 1992;1:353.
15. Rau H, Sadel KH, Ommert S, Baclenhoop K. Pvu II polymorphism of LST-1 (leucocyte specific transcript-1) in type I diabetes mellitus, Graves' disease and healthy controls. Eur J Immunogenetics 1995;22:277-82.
16. Udalova IA, Nedospasov SA, Webb GC, Chaplin DD, Turetskya RL. Highly informative typing of the human TNF locus using six adjacent polymorphic markers. Genomics 1993;16:180-6.
17. Braun J, Bollow M, Remlinger G, et al. Prevalence of spondyloarthropathies in HLA-B27 positive and negative blood donors. Arthritis Rheum 1998;41:58-67.
18. Verjans GMGM, van der Linden SM, Van Eys GJJM, De Waal LP, Kijlstra A. Restriction fragment length polymorphisms of the tumour necrosis factor region in patients with ankylosing spondylitis. Arthritis Rheum 1991;34:486-9.
19. Verjans GMGM, Brinkman BMN, Van Doornik CEM, Kijlstra A, Verweij CL. Polymorphisms of tumour necrosis factor-alpha at position -308 in relation to ankylosing spondylitis. Clin Exp Immunol 1994;97:45-7.
20. Robinson WP, van der Linden SM, Khan MA, et al. HLA-Bw60 increases susceptibility to ankylosing spondylitis in HLA-B27+ patients. Arthritis Rheum 1989;32;1135-41.
21. Brown MA, Kennedy LG, MacGregor AJ, et al. Susceptibility to ankylosing spondylitis in twins: the roles of genes, HLA, and the environment. Arthritis Rheum 1997;40:1823-8.
22. Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW. Effects of a polymorphism in the tumour necrosis factor promoter on transcriptional activation. Proc Natl Acad Sci USA 1997;94:3195-9.
23. Hohler T, Schaper T, Schneider PM, Meyer-zum-Buschenfelde K-H, Marker-Hermann E. Association of different tumour necrosis factor a promoter frequencies with ankylosing spondylitis in HLA B27 positive individuals. Arthritis Rheum 1998;41:1489-92.
24. Dawkins RL, Leaver AL, Camerson PU, Martin E, Kay PH, Christiansen FT. Some disease-associated ancestral haplotypes carry a polymorphism of TNF. Hum Immunol 1989;26:91-7.
25. Burney RO, Pile KD, Gibson K, et al. Analysis of the MHC Class II encoded components of the HLA Class II antigen processing pathway in ankylosing spondylitis. Ann Rheum Dis 1994;53:58-60.
26. Maksymowych WP, Tao S, Li Y, Wing M, Russell AS. Allelic variation at the TAP 1 locus influences disease phenotype in HLA-B27 positive individuals with ankylosing spondylitis. Tissue Antigens 1995;45:328-32.
27. Louis E, Satsangi J, Roussomoustakaki M, et al. Cytokine gene polymorphisms in inflammatory bowel disease. Gut 1996; 39:705-10.
28. Plevy SE, Targan SR, Yang HY, Fernandez D, Rotter JI, Toyoda H. Tumour necrosis factor microsatellites define a Crohn's disease associated haplotype on chromosome 6. Gastroenterology 1996;110:1053-60.
29. Rudwaleit M, Tikley M, Khamashta M, et al. Interethnic differences in the association of tumor necrosis factor promoter polymorphisms with systemic lupus erythematosus. J Rheumatol 1996;23:1725-8.
30. Sullivan KE, Wooten C, Schmeckpeper BJ, Goldman D, Petri MA. A promoter polymorphism of tumor necrosis factor alpha associated with systemic lupus erythematosus in African Americans. Arthritis Rheum 1997;40:2207-11.
31. Wilson AG, Gordon C, di Giovine FS, et al. A genetic association between systemic lupus erythematosus and tumour necrosis factor alpha. Eur J Immunol 1994;24:191-5.
32. D'Alfonso S, Colombo G, Delia Bella S, Scorza R, Momigliano-Richiardi P. Association between polymorphisms in the TNF region and systemic lupus erythematosus in the Italian population. Tissue Antigens 1996;47:551-5.
33. Gallagher G, Eskdale J, Miller S, Wordsworth P, Field M. No role for the TNF gene cluster in the genetic predisposition to rheumatoid arthritis or systemic lupus erythematosus [abstract]. Arthritis Rheum 1997;40 Suppl:S77.
34. Wilson AG, De Vreis N, van de Putte LBA, Duff GW. A tumor necrosis factor polymorphism is not associated with rheumatoid arthritis. Ann Rheum Dis 1995;54:601-3.
35. Vincaso J, Beraun Y, Nieto A, et al. Polymorphism at the TNF loci in rheumatoid arthritis. Tissue Antigens 1997;49:74-8.
36. Hajeer AH, Worthington J, Silman AJ, Ollier WER. Association of tumor necrosis factor microsatellite polymorphisms with HLA-DR b1*04 bearing haplotypes in rheumatoid arthritis patients. Arthritis Rheum 1996;39:1109-14.
37. Field M, Gallagher G, Eskdale J, et al. Tumour necrosis factor locus polymorphisms in rheumatoid arthritis. Tissue Antigens 1997;50:303-7.
38. Moghaddam PH, de Knijf P, Roep BO, et al. Genetic structure of IDDM1. Two separate regions of the MHC contribute to susceptibility or protection. Diabetes 1998;47:263-9.