Linkage and association studies of single-nucleotide polymorphism-tagged tumor necrosis factor haplotypes in juvenile oligoarthritis

Arthritis and Rheumatism

Volumn 46, Issue 12, 2002, Pages 3304-3311

  Zeggini, Eleftheria ^a,c   Thomson, Wendy ^a   Kwiatkowski, Dominic ^b   Richardson, Anna ^b   Ollier, William ^a   Donn, Rachelle ^a   Abinun, M ^d   Becker, M ^d   Bell, A ^d   Craft, A ^d   Crawley, E ^d   David, J ^d   Foster, H ^d   Gardener Medwin, J ^d   Griffin, J ^d   Hall, A ^d   Hall, M ^d   Herrick, A ^d   Hollingworth, P ^d   Holt, L ^d   Jones, S ^d   Pountain, G ^d   Ryder, C ^d   Southwood, T ^d   Stewart, I ^d   Woo, P ^d   Wyatt, S ^d   Venning, H ^d   more..

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c ARC/EU   (United Kingdom)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

TUMOR NECROSIS FACTOR;

ADULT; ARTHRITIS; ARTICLE; CHILD; CONTROLLED STUDY; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SERUM; SINGLE NUCLEOTIDE POLYMORPHISM; SYNOVIAL FLUID;

ADULT; ARTHRITIS, JUVENILE RHEUMATOID; CHILD, PRESCHOOL; FEMALE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE TAGGED SITES; TUMOR NECROSIS FACTOR-ALPHA;

EID: 0036901071     PISSN: 00043591     EISSN: None     Source Type: Journal    
DOI: 10.1002/art.10698     Document Type: Article

References (35)

1. Petty RE, Southwood TR, Baum J, Bhettay E, Glass DN, Manners P, et al. Revision of the proposed classification criteria for juvenile idiopathic arthritis: Durban, 1997. J Rheumatol 1998;25:1991-4.
2. Glass DN, Giannini EH. Juvenile rheumatoid arthritis as a complex genetic trait. Arthritis Rheum 1999;42:2261-8.
3. Grom AA, Hirsch R. T-cell and T-cell receptor abnormalities in the immunopathogenesis of juvenile rheumatoid arthritis. Curr Opin Rheumatol 2000;12:420-4.
4. Moore TL. Immunopathogenesis of juvenile rheumatoid arthritis. Curr Opin Rheumatol 1999;11:377-83.
5. Donn RP, Ollier WER. Juvenile chronic arthritis: A time for change? Eur J Immunogenet 1996;23:245-60.
6. Moroldo MB, Donnelly P, Saunders J, Glass DN, Giannini EH. Transmission disequilibrium as a test of linkage and association between HLA alleles and pauciarticular juvenile rheumatoid arthritis. Arthritis Rheum 1998;40:1620-4.
7. Lovell DJ, Giannini EH, Reiff A, Cawkwell GD, Silverman ED, Nocton JJ, et al. Etanercept in children with polyarticular juvenile rheumatoid arthritis. Pediatric Rheumatology Collaborative Study Group. N Engl J Med 2000;342:763-9.
8. Kietz DA, Pepmueller PH, Moore TL. Therapeutic use of etanercept in polyarticular course juvenile idiopathic arthritis over a two year period. Ann Rheum Dis 2002;61:717-23.
9. Kutukculer N, Caglayan S, Aydogdu F. Study of pro-inflammatory (TNF-alpha, IL-1 alpha, IL-6) and T-cell-derived (IL-2, IL-4) cytokines in plasma and synovial fluid of patients with juvenile chronic arthritis: Correlations with clinical and laboratory parameters. Clin Rheumatol 1998;17:288-92.
10. Lepore L, Pennesi M, Saletta S, Perticarari S, Presani G, Prodan M. Study of IL-2, IL-6, TNF alpha, IFN gamma and beta in the serum and synovial fluid of patients with juvenile chronic arthritis. Clin Exp Rheumatol 1994;12:561-5.
11. Mangge H, Kenzian H, Gallistl S, Neuwirth G, Liebmann P, Kaulfersch W, et al. Serum cytokines in juvenile rheumatoid arthritis: Correlation with conventional inflammation parameters and clinical subtypes. Arthritis Rheum 1995;38:211-20.
12. Richardson A, Sisay-Joof F, Ackerman H, Usen S, Katundu P, Taylor T, et al. Nucleotide diversity of the TNF region in an African village. Genes Immun 2001;2:343-8.
13. Van Heel DA, Udalova IA, De Silva AP, McGovern DP, Kinouchi Y, Hull J, et al. Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF-kappa B transcription factors. Hum Mol Genet 2002;11: 1281-9.
14. Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci U S A 1997;94:3195-9.
15. Abraham LJ, Kroeger KM. Impact of the -308 TNF promoter polymorphism on the transcriptional regulation of the TNF gene: Relevance to disease. J Leukoc Biol 1999;66:562-6.
16. Brinkman BM, Zuijdeest D, Kaijzel EL, Breedveld FC, Verweij CL. Relevance of the tumor necrosis factor alpha (TNF alpha)-308 promoter polymorphism in TNF alpha gene regulation. J Inflamm 1995;46:32-41.
17. Westendorp RGJ, Langermans JAM, Huizinga TWJ, Elouali AH, Verweij CL, Boomsma DI, et al. Genetic influence on cytokine production and fatal meningococcal disease. Lancet 1997;349: 170-3.
18. Knight JC, Udalova I, Hill AV, Greenwood BM, Peshu N, Marsh K, et al. A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria. Nat Genet 1999;22:145-50.
19. Fabris M, Di PE, D'Elia A, Damante G, Sinigaglia L, Ferraccioli G. Tumor necrosis factor-alpha gene polymorphism in severe and mild-moderate rheumatoid arthritis. J Rheumatol 2002;29:29-33.
20. Rood MJ, van Krugten MV, Zanelli E, van der Linden MW, Keijsers V, Schreuder GM, et al. TNF-308A and HLA-DR3 alleles contribute independently to susceptibility to systemic lupus erythematosus. Arthritis Rheum 2000;43:129-34.
21. Gonzalez S, Torre-Alonso JC, Martinez-Borra J, Fernandez Sanchez JA, Lopez-Vazquez A, Rodriguez Perez A, et al. TNF-238A promoter polymorphism contributes to susceptibility to ankylosing spondylitis in HLA-B27 negative patients. J Rheumatol 2001;28:1288-93.
22. Epplen C, Rumpf H, Albert E, Haas P, Truckenbrodt H, Epplen JT. Immunoprinting excludes many potential susceptibility genes as predisposing to early onset pauciarticular juvenile chronic arthritis except HLA class II and TNF. Eur J Immunogenet 1995;22:311-22.
23. Date Y, Seki N, Kamizono S, Higuchi T, Hirata T, Miyata K, et al. Identification of a genetic risk factor for systemic juvenile rheumatoid arthritis in the 5′-flanking region of the TNFα gene and HLA genes. Arthritis Rheum 1999;42:2577-82.
24. Ozen S, Alikasifoglu M, Bakkaloglu A, Duzova A, Jarosova K, Nemcova D, et al. Tumour necrosis factor alpha G→A -238 and G→A -308 polymorphisms in juvenile idiopathic arthritis. Rheumatology (Oxford) 2002;41:223-7.
25. Daly AK, Day CP. Candidate gene case-control association studies: Advantages and potential pitfalls. Br J Clin Pharmacol 2001; 52:489-99.
26. Johnson GC, Esposito L, Barratt BJ, Smith AN, Heward J, Di Genova G, et al. Haplotype tagging for the identification of common disease genes. Nat Genet 2001;29:233-7.
27. Zeggini E, Donn RP, Ollier WER, Thomson W, British Paediatric Rheumatology Study Group. Evidence for linkage of HLA loci in juvenile idiopathic oligoarthritis: Independent effects of HLA-A and HLA-DRB1. Arthritis Rheum 2002;46:2716-2720.
28. Nedospasov SA, Shakhov AN, Turetskaya RL, Mett VA, Azizov MM, Georgiev GP, et al. Tandem arrangement of genes coding for tumor necrosis factor (TNF-alpha) and lymphotoxin (TNF-beta) in the human genome. Cold Spring Harb Symp Quant Biol 1986;51:611-24.
29. Stata Corporation. Stata Statistical Software: Release 5.0. College Station (TX): Stata Corporation; 1997.
30. Sham PC, Curtis D. An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet 1995;59:323-6.
31. Curtis D, Sham PC. Model-free linkage analysis using likelihoods. Am J Hum Genet 1995;57:703-16.
32. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 1996;58:1347-63.
33. McGuire W, Knight JC, Hill AV, Allsopp CE, Greenwood BM, Kwiatkowski D. Severe malarial anemia and cerebral malaria are associated with different tumor necrosis factor promoter alleles. J Infect Dis 1999;179:287-90.
34. Brinkman BM, Huizinga TW, Kurban SS, van der Velde EA, Schreuder GM, Hazes JM, et al. Tumour necrosis factor alpha gene polymorphisms in rheumatoid arthritis: Association with susceptibility to, or severity of, disease? Br J Rheumatol 1997;36: 516-21.
35. Kaluza W, Reuss E, Grossmann S, Hug R, Schopf RE, Galle PR, et al. Different transcriptional activity and in vitro TNF-alpha production in psoriasis patients carrying the TNF-alpha 238A promoter polymorphism. J Invest Dermatol 2000;114:1180-3.