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TNF-α and TNF-β Polymorphisms are Associated with Susceptibility to Osteoarthritis in a Korean Population

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Background: The tumor necrosis factor (TNF) is believed to play an important role in the pathophysiology of osteoarthritis (OA). Evidence shows that genetic polymorphisms make substantial contributions to the etiology of OA. Methods: We investigated the genotypes TNF-α and TNF-β in 301 OA patients and 291 healthy subjects as controls. We employed a polymerase chain reaction-restriction fragment length polymorphism and a polymerase chain reaction-single strand conformation polymorphism assay to identify the genotypes TNFA -G308A and TNFB +G252A, respectively. Results: For TNFA -G308A, the percentages of genotypes GG, AG, and AA were 26.3% (79/301), 62.5% (188/301), and 11.3% (34/301) in OA patients and 88.7% (258/291), 11.3% (33/ 291), and 0% (0/291) in controls. For TNFB +G252A, the percentages of genotypes GG, AG, and AA were 15.3% (46/301), 41.9% (126/301), and 42.9% (129/301) in OA patients and 12% (35/291), 52.6% (153/291), and 35.4% (103/291) in controls. There were significant differences in genotypes and alleles of TNFA -308 between OA patients and controls (p<0.0001) and in alleles of TNFB +252 (p=0.0325). The risk of OA was significantly higher for carriers of the TNFA -308A allele and the TNFB +252 AA homozygote (p=0.0224). Conclusions: The results suggest close relationships between TNFA -G308A and TNFB +G252A polymorphisms and individual susceptibility to OA in the Korean population.

Abstract

Background: The tumor necrosis factor (TNF) is believed to play an important role in the pathophysiology of osteoarthritis (OA). Evidence shows that genetic polymorphisms make substantial contributions to the etiology of OA. Methods: We investigated the genotypes TNF-α and TNF-β in 301 OA patients and 291 healthy subjects as controls. We employed a polymerase chain reaction-restriction fragment length polymorphism and a polymerase chain reaction-single strand conformation polymorphism assay to identify the genotypes TNFA -G308A and TNFB +G252A, respectively. Results: For TNFA -G308A, the percentages of genotypes GG, AG, and AA were 26.3% (79/301), 62.5% (188/301), and 11.3% (34/301) in OA patients and 88.7% (258/291), 11.3% (33/ 291), and 0% (0/291) in controls. For TNFB +G252A, the percentages of genotypes GG, AG, and AA were 15.3% (46/301), 41.9% (126/301), and 42.9% (129/301) in OA patients and 12% (35/291), 52.6% (153/291), and 35.4% (103/291) in controls. There were significant differences in genotypes and alleles of TNFA -308 between OA patients and controls (p<0.0001) and in alleles of TNFB +252 (p=0.0325). The risk of OA was significantly higher for carriers of the TNFA -308A allele and the TNFB +252 AA homozygote (p=0.0224). Conclusions: The results suggest close relationships between TNFA -G308A and TNFB +G252A polymorphisms and individual susceptibility to OA in the Korean population.

참고문헌 (30)

  1. 김인제, "The Prevalence of Knee Osteoarthritis in Elderly Community Residents in Korea", Journal of Korean Medical Science, 25(2), pp.293~298 (2010), 대한의학회
  2. Nakajima M, "New sequence variants in HLA class II", III region associated with susceptibility to knee osteoarthritis identified by genome-wide association study, 2010, pp.5, 9723~
  3. Shi D, "Association of single-nucleotide polymorphisms in HLA class II", III region with knee osteoarthritis, 2010, pp.18, 1454~1457
  4. Carroll MC, "Linkage map of the human major histocompatibility complex including the tumor necrosis factor genes", Proc Natl Acad Sci U S A, 84, pp.8535~8539 (1987)
  5. Körner H, "Tumour necrosis factor and lymphotoxin: molecular aspects and role in tissue-specific autoimmunity", Immunol Cell Biol, 74, pp.465~472 (1996)
  6. Abraham LJ, "Polymorphic MHC ancestral haplotypes affect the activity of tumour necrosis factor-alpha", Clin Exp Immunol, 92, pp.14~18 (1993)
  7. Fernandes JC, "The role of cytokines in osteoarthritis pathophysiology", Biorheology, 39, pp.237~246 (2002)
  8. Abraham LJ, "Impact of the -308 TNF promoter polymorphism on the transcriptional regulation of the TNF gene: relevance to disease", J Leukoc Biol, 66, pp.562~566 (1999)
  9. Yoon JH, "TNF-α and TNF-β polymorphisms with susceptibility to gastric cancer in a Korean population", Molecular & Cellular Toxicology, 6(2), pp.161~167 (2010), 대한독성 유전단백체 학회[DOI]
  10. Messer G, "Polymorphic structure of the tumor necrosis factor (TNF) locus: an NcoI polymorphism in the first intron of the human TNF-beta gene correlates with a variant amino acid in position 26 and a reduced level of TNF-beta production", J Exp Med, 173, pp.209~219 (1991)
  11. Pociot F, "A tumour necrosis factor beta gene polymorphism in relation to monokine secretion and insulin-dependent diabetes mellitus", Scand J Immunol, 33, pp.37~49 (1991)
  12. Balding J, "Cytokine gene polymorphisms: association with psoriatic arthritis susceptibility and severity", Arthritis Rheum, 48, pp.1408~1413 (2003)
  13. Lee JY, "A simple, precise and economical microdissection technique for analysis of genomic DNA from archival tissue sections", Virchows Arch, 433, pp.305~309 (1998)
  14. Ikegawa S, "New gene associations in osteoarthritis: what do they provide, and where are we going?", Curr Opin Rheumatol, 19, pp.429~434 (2007)
  15. Kapoor M, "Role of proinflammatory cytokines in the pathophysiology of osteoarthritis", Nat Rev Rheumatol, 7, pp.33~42 (2011)
  16. Séguin CA, "TNFalpha suppresses link protein and type II collagen expression in chondrocytes: role of MEK1", 2 and NF-kappaB signaling pathways, 2003, pp.197, 356~369
  17. Lefebvre V, "Modulation by interleukin 1 and tumor necrosis factor alpha of production of collagenase, tissue inhibitor of metalloproteinases and collagen types in differentiated and dedifferentiated articular chondrocytes", Biochim Biophys Acta, 1052, pp.366~378 (1990)
  18. Keffer J, "Transgenic mice expressing human tumour necrosis factor: a predictive genetic model of arthritis", EMBO J, 10, pp.4025~4031 (1991)
  19. Jiménez-Morales S, "Tumor necrosis factor-alpha is a common genetic risk factor for asthma, juvenile rheumatoid arthritis, and systemic lupus erythematosus in a Mexican pediatric population", Hum Immunol, 70, pp.251~256 (2009)
  20. Kroeger KM, "The -308 tumor necrosis factor-alpha promoter polymorphism effects transcription", Mol Immunol, 34, pp.391~399 (1997)
  21. Shlopov BV, "Autocrine regulation of collagenase 3 (matrix metalloproteinase 13) during osteoarthritis", Arthritis Rheum, 43, pp.195~205 (2000)
  22. O’Rourke KP, "High levels of Lymphotoxin-Beta (LT-Beta) gene expression in rheumatoid arthritis synovium: clinical and cytokine correlations", Rheumatol Int, 28, pp.979~986 (2008)
  23. Calmon-Hamaty F, "Lymphotoxin alpha stimulates proliferation and pro-inflammatory cytokine secretion of rheumatoid arthritis synovial fibroblasts", Cytokine, 53, pp.207~214 (2011)
  24. Santos MJ, "Lymphotoxin-alpha 252 A>G polymorphism: a link between disease susceptibility and dyslipidemia in rheumatoid arthritis?", J Rheumatol, 38, pp.1244~1249 (2011)
  25. Kim HY, "TNFB gene polymorphism in patients with systemic lupus erythematosus in Korean", Korean J Intern Med, 10, pp.130~136 (1995)
  26. Temple SE, "A diplotype in the lymphotoxin alpha gene is associated with differential expression of LTA mRNA induced by Gram-positive and Gram-negative bacteria", Int J Immunogenet, 34, pp.157~160 (2007)
  27. Barber MD, "Two polymorphisms of the tumour necrosis factor gene do not influence survival in pancreatic cancer", Clin Exp Immunol, 117, pp.425~429 (1999)
  28. Kohaar I, "Association of single nucleotide polymorphisms (SNPs) in TNF-LTA locus with breast cancer risk in Indian population", Breast Cancer Res Treat, 114, pp.347~355 (2009)
  29. Temple SE, "Polymorphisms in lymphotoxin alpha and CD14 genes influence TNFalpha production induced by Gram-positive and Gram-negative bacteria", Genes Immun, 4, pp.283~288 (2003)
  30. Pociot F, "Association of tumor necrosis factor (TNF) and class II major histocompatibility complex alleles with the secretion of TNF-alpha and TNF-beta by human mononuclear cells: a possible link to insulin-dependent diabetes mellitus", Eur J Immunol, 23, pp.224~231 (1993)

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