Association between the -308 and -238 polymorphisms of the TNF-α gene and rheumatoid arthritis (preliminary data).
Main Article Content
Abstract
Rheumatoid Arthritis (RA) is a systemic inflammatory disease that affects 0.5 to 2 % of the global population. In Ecuador the reported prevalence of the disease is 0.9 %. Recently, an increase number of polymorphisms have been studied in order to find a relationship between the disease and genetic polymorphisms. Two of the most studied polymorphisms are -308 and -238 of the tumor necrosis factor α (TNF-α) gene. Forty individuals with previous diagnosis of RA and twenty five healthy individualswere analyzed for the presence of the polymorphisms -238 and -308 using RT-PCR (endpoint genotyping). Additionally, levels of RA markers were assessed using ELISA. Disease activity was measured according to clinical data using DAS 28. The study was carried out according to Helsinki declaration standards. No differences were found in genotype frequencies between healthy and RA individuals in both polymorphisms. Results showed that most -238GA individuals (69 %) had low disease activity according to DAS28 (SB DAS28); in contrast to -238GG and -238AA polymorphisms in which most individuals (67 % and 57 %) had medium disease level (SM DAS 28.This is the first study on relationship between RA and genetic polymorphisms carried out in Ecuador. Our results suggest the association between 238GG polymorphism and a higher progression of the disease, reported previously.
Downloads
Download data is not yet available.
Article Details
How to Cite
1.
Mestanza C, Zurita Salinas C, Espín E, Ortega Paredes D, Mora M, Vallejo C, Villacís R, Mestanza Peralta M. Association between the -308 and -238 polymorphisms of the TNF-α gene and rheumatoid arthritis (preliminary data). REMCB [Internet]. 2017Aug.14 [cited 2024Jul.3];34(1-2):205-14. Available from: https://remcb-puce.edu.ec/remcb/article/view/244
Section
Artículos Científicos
References
Azmy I, Balasubramanian SP, Wilson AG, Stephenson TJ, Cox A, Brown NJ y Reed MWR. 2004. Role of tumour necrosis factor gene polymorphisms (-308 and -238) in breast cancer susceptibility and severity. Breast Cancer Research, 6: R395–400.
Brinkman BM, Huizinga TW, Kurban SS, Van der Velde E a, Schreuder GM, Hazes JM, Breedveld FC y Verweij CL. 1997. Tumour necrosis factor alpha gene polymorphisms in rheumatoid arthritis: association with susceptibility to, or severity of, disease. British Journal of Rheumatology, 36: 516–21.
Cuenca J, Pérez CA, Aguirre AJ, Schiattino I y Aguillón JC. 2001. Genetic polymorphism at position-308 in the promoter region of the tumor necrosis factor (TNF): implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean population. Biological Research, 34(3–4): 237–41.
Cuenca J, Cuchacovich M, Ferreira L, Pérez C, Aguirre A, Schiattino I et al. 2003. The -308 polymorphism in the tumor necrosis factor gene promoter region and ex-vivo lipopolysaccharide-induced TNF expression and cytotoxic activity in Chilean patients with rheumatoid arthritis. Rheumatology, 42: 308–13.
Deighton CM, Walker DJ, Griffiths ID y Roberts DF. 1989. The contribution of HLA to rheumatoid arthritis. ClinicalGenetics, 36: 178–82.
González A, Nicovani S, Massardo L, Aguirre V, Cervilla V, Lanchbury JS et al. 1997. Influence of the HLA-DRß shared epitope on susceptibility to and clinical expression of rheumatoid arthritis in Chilean patients. Annals of the Rheumatic Diseases, 56: 191–3.
Inoue E, Yamanaka H, Hara M, Tomatsu T y Kamatani N. 2007. Comparison of disease activity score (das)28-erythrocyte sedimentation rate and das28- C-reactive protein threshold values. Annals of the Rheumatic Diseases, 66: 407–409.
John S, Shephard N, Liu G, Zeggini E, Cao M y Chen W. 2004. Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms:comparison with microsatellites. American Journal of Human Genetics, 75: 54–64.
Kawane K, Ohtani M, Miwa K, Kizawa T, Kanbara Y, Yoshioka Y, Yoshikawa H y Nagata S. 2006. Chronic polyarthritis caused by mammalian DNA that escapes from degradation in macrophages. Nature, 443: 998 –1002.
Lee YH, Bae SC y Song GG. 2012. TNF pro-moter -308 A/G and -238 A/G polymorphisms and juvenile idiopathic arthritis: a meta-analysis. Molecular Biology Reports, 39(8): 8497–8503.
MacGregor AJ, Snieder H, Rigby AS, Koskenvuo M, Kaprio J y Aho K. 2000. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins.Arthritis & Rheumatism, 43: 30–7.
Majithia V y Geraci SA. 2007. “Rheumatoid arthritis: diagnosis and manage-ment”. American Journal of Medicine, 120(11): 936–9.
Mestanza M, Zurita C y Armijos R. 2006. Prevalence of rheumatic diseases in a rural community in Ecuador. A community oriented program for control of rheumatic disorders (Copcord). Journal of clinical Rheumatology, 12(4): S6.
Nemec P, Pavkova-Goldbergova M, Stouracova M, Vasku A, Soucek M y Gatterova J. 2008. Polymorphism in the tumor necrosis factor-alpha gene promoter is associated with severity of rheumatoid arthritis in the Czech population. Clinical Rheumatology, 27(1): 59–65.
Nepom GT. 2001. The role of the DR4 shared epitope in selection and commitment of autoinmune T cells in rheumatoid arthritis. Rheumatic. Diseases Clinics of North America, 27: 305–16.
Newton JL, Harney SMJ, Wordsworth BP y Brown MA. 2004. A review of the MHC genetics of rheumatoid arthritis. Genes and Immunity, 5: 151–157.
O’Rielly DD, Roslin NM, Beyene J, Pope A y Rahman P. 2009. TNF-alpha-308 G/A polymorphism and responsiveness to TNF-alpha blockade therapy in moderate to severe rheumatoid arthritis: a systematic review and meta-analysis. The Pharmacogenomics Journal, 9(3): 161–7.
Osorio YF, Bukulmez H, Petit-Teixeira E, Michou L, Pierlot C, Cailleau-Moindrault S, et al. 2004. Densegenome-wide linkage analysis of rheumatoid arthritis, including covariates. Arthritis & Rheumatism, 50: 2757–65.
Pawlik A, Florczak M, Ostanek L, Brzosko M, Brzosko I y Szklarz BG. 2005. TNF-alpha -308 promoter polymorphism in patients with rheumatoid arthritis. Scandinavian Journal of Rheumatology, 34: 22–6.
Rezaieyazdi Z, Afshari JT, Sandooghi M y Mohajer F. 2007. Tumour necrosis factor a -308 promoter polymorphism in patients with rheumatoid arthritis. Rheumatology International, 28(2): 189–91
Silman AJ y Pearson JE. 2002. Epidemiology and genetics of rheumatoid arthritis. Arthritis research, 4 Suppl 3: S265–72.
Tamiya G, Shinya M, Imanishi T, Ikuta T, Makino S, Okamoto K, et al. 2005. Whole genome association study ofrheumatoid arthritis using 27 039 microsatellites. Human Molecular Genetics, 14: 2305–21.
Verwij C. 1999. Tumor necrosis factor gene polymorphisms as severity markers in rheumatoid arthritis. Annals of the Rheumatic Diseases, 58(Supl I): 120–6.
Vinasco J, Beraún Y, Nieto A, Fraile A, Mataran L, Pareja E, et al. 1997. Polymorphisms at the TNF loci in rheumatoid arthritis. Tissue Antigens, 49: 74–8
Yen J, Chen CH, Tsai W, Lin CH, Ou T y Wu CC. 2001. Tumor necrosis factor promoter polymorphisms in patients with rheumatoid arthritis in Taiwan. The Journal of Rheumatology, 28: 1788–92.
Brinkman BM, Huizinga TW, Kurban SS, Van der Velde E a, Schreuder GM, Hazes JM, Breedveld FC y Verweij CL. 1997. Tumour necrosis factor alpha gene polymorphisms in rheumatoid arthritis: association with susceptibility to, or severity of, disease. British Journal of Rheumatology, 36: 516–21.
Cuenca J, Pérez CA, Aguirre AJ, Schiattino I y Aguillón JC. 2001. Genetic polymorphism at position-308 in the promoter region of the tumor necrosis factor (TNF): implications of its allelic distribution on susceptibility or resistance to diseases in the Chilean population. Biological Research, 34(3–4): 237–41.
Cuenca J, Cuchacovich M, Ferreira L, Pérez C, Aguirre A, Schiattino I et al. 2003. The -308 polymorphism in the tumor necrosis factor gene promoter region and ex-vivo lipopolysaccharide-induced TNF expression and cytotoxic activity in Chilean patients with rheumatoid arthritis. Rheumatology, 42: 308–13.
Deighton CM, Walker DJ, Griffiths ID y Roberts DF. 1989. The contribution of HLA to rheumatoid arthritis. ClinicalGenetics, 36: 178–82.
González A, Nicovani S, Massardo L, Aguirre V, Cervilla V, Lanchbury JS et al. 1997. Influence of the HLA-DRß shared epitope on susceptibility to and clinical expression of rheumatoid arthritis in Chilean patients. Annals of the Rheumatic Diseases, 56: 191–3.
Inoue E, Yamanaka H, Hara M, Tomatsu T y Kamatani N. 2007. Comparison of disease activity score (das)28-erythrocyte sedimentation rate and das28- C-reactive protein threshold values. Annals of the Rheumatic Diseases, 66: 407–409.
John S, Shephard N, Liu G, Zeggini E, Cao M y Chen W. 2004. Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms:comparison with microsatellites. American Journal of Human Genetics, 75: 54–64.
Kawane K, Ohtani M, Miwa K, Kizawa T, Kanbara Y, Yoshioka Y, Yoshikawa H y Nagata S. 2006. Chronic polyarthritis caused by mammalian DNA that escapes from degradation in macrophages. Nature, 443: 998 –1002.
Lee YH, Bae SC y Song GG. 2012. TNF pro-moter -308 A/G and -238 A/G polymorphisms and juvenile idiopathic arthritis: a meta-analysis. Molecular Biology Reports, 39(8): 8497–8503.
MacGregor AJ, Snieder H, Rigby AS, Koskenvuo M, Kaprio J y Aho K. 2000. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins.Arthritis & Rheumatism, 43: 30–7.
Majithia V y Geraci SA. 2007. “Rheumatoid arthritis: diagnosis and manage-ment”. American Journal of Medicine, 120(11): 936–9.
Mestanza M, Zurita C y Armijos R. 2006. Prevalence of rheumatic diseases in a rural community in Ecuador. A community oriented program for control of rheumatic disorders (Copcord). Journal of clinical Rheumatology, 12(4): S6.
Nemec P, Pavkova-Goldbergova M, Stouracova M, Vasku A, Soucek M y Gatterova J. 2008. Polymorphism in the tumor necrosis factor-alpha gene promoter is associated with severity of rheumatoid arthritis in the Czech population. Clinical Rheumatology, 27(1): 59–65.
Nepom GT. 2001. The role of the DR4 shared epitope in selection and commitment of autoinmune T cells in rheumatoid arthritis. Rheumatic. Diseases Clinics of North America, 27: 305–16.
Newton JL, Harney SMJ, Wordsworth BP y Brown MA. 2004. A review of the MHC genetics of rheumatoid arthritis. Genes and Immunity, 5: 151–157.
O’Rielly DD, Roslin NM, Beyene J, Pope A y Rahman P. 2009. TNF-alpha-308 G/A polymorphism and responsiveness to TNF-alpha blockade therapy in moderate to severe rheumatoid arthritis: a systematic review and meta-analysis. The Pharmacogenomics Journal, 9(3): 161–7.
Osorio YF, Bukulmez H, Petit-Teixeira E, Michou L, Pierlot C, Cailleau-Moindrault S, et al. 2004. Densegenome-wide linkage analysis of rheumatoid arthritis, including covariates. Arthritis & Rheumatism, 50: 2757–65.
Pawlik A, Florczak M, Ostanek L, Brzosko M, Brzosko I y Szklarz BG. 2005. TNF-alpha -308 promoter polymorphism in patients with rheumatoid arthritis. Scandinavian Journal of Rheumatology, 34: 22–6.
Rezaieyazdi Z, Afshari JT, Sandooghi M y Mohajer F. 2007. Tumour necrosis factor a -308 promoter polymorphism in patients with rheumatoid arthritis. Rheumatology International, 28(2): 189–91
Silman AJ y Pearson JE. 2002. Epidemiology and genetics of rheumatoid arthritis. Arthritis research, 4 Suppl 3: S265–72.
Tamiya G, Shinya M, Imanishi T, Ikuta T, Makino S, Okamoto K, et al. 2005. Whole genome association study ofrheumatoid arthritis using 27 039 microsatellites. Human Molecular Genetics, 14: 2305–21.
Verwij C. 1999. Tumor necrosis factor gene polymorphisms as severity markers in rheumatoid arthritis. Annals of the Rheumatic Diseases, 58(Supl I): 120–6.
Vinasco J, Beraún Y, Nieto A, Fraile A, Mataran L, Pareja E, et al. 1997. Polymorphisms at the TNF loci in rheumatoid arthritis. Tissue Antigens, 49: 74–8
Yen J, Chen CH, Tsai W, Lin CH, Ou T y Wu CC. 2001. Tumor necrosis factor promoter polymorphisms in patients with rheumatoid arthritis in Taiwan. The Journal of Rheumatology, 28: 1788–92.