Research Article
FOXP3 Promoter polymorphism (-3499 A/G) is not associated with osteoarthritis in a Turkish population
Abstract
Objective: In this
study we aimed to find out whether FOXP3
promoter region -3499A/G polymorhism was associated with osteoarthiritis in a
Turkish population.
Method: The
study group consists of 50 patients in 3rd stage and 100 patients in 4th stage
osteoarthiritis and control group consists of 150 healthy individuals. FOXP3 genotypes were examined by
PCR-RFLP method.
Results: Our
results show that there is no statisticially significant association between
osteoarthiritis and FOXP3 -3499A/G polymorphism. The wild type AA genotype was
63%, polymorphic AG was 31% and GG was 6% in the control group, while they were
56%, 37% and 7% in the study group respectively.
Conclusions: Osteoarthiritis
was seen higher in women than that of men in our study which is compatible with
the results of previous results.
Keywords
References
- 1. Zhang Y, Jordan JM. Epidemiology of Osteoarthritis. Clin Geriatr Med 2010; 26: 355-69.
- 2. Bijlsma JW, Berenbaum F, Lafeber FP. Osteoarthritis: an update with relevance for clinical practice. Lancet 2011; 377(9783): 2115-26.
- 3. Lotz MK, Kraus VB. New developments in osteoarthritis. Posttraumatic osteoarthritis: pathogenesis and pharmacological treatment options. Arthritis Res Ther 2010; 12: 211.
- 4. Sowers MR, Kavonen-Gutierrez CA. The evolving role of obesity in knee osteoarthritis. Curr Opin Rheumatol 2010; 22: 533-7.
- 5. Felson DT. An update on the pathogenesis and epidemiology of osteoarthritis. Radiol Clin N Am 2004; 42: 1-9.
- 6. Dieppe PA, Lohmander LS. Pathogenesis and management of pain in osteoarthritis. Lancet 2005; 365(9463): 965-73.
- 7. Sezgin M. Osteoartrit: Genetik. Türkiye Klinikleri Fiziksel Tıp Rehabilitasyon Osteoartrit Özel Sayı 2012; 5: 8-14.
- 8. Valdes AM, Doherty M, Spector TD. The additive effect of individual genes in predicting risk of knee osteoarthritis. Ann Rheum Dis 2008; 67: 124-7.
- 9. Guo SY, Ding YJ, Li L, Zhang T, Zhang ZZ, Zhang ES. Correlation of CD4+CD25+FoxP3+Treg with recovery of joint function after total knee replacement in rats with osteoarthritis. Genetics and Molecular Research 2015; 14: 7290-6.
- 10. Paradowska-Gorycka A, Jurkowska M, Felis-Giemza A, Romanowska-Prochnicka K, Manczak M, Maslinski S, Olesinska M. Genetic polymorphisms of FoxP3 in patients with rheumatoid arthritis. J Rheumatol 2015; 42: 2.
- 11. Balbaloglu O, Sabah Ozcan S, Korkmaz M, Yılmaz N. Promoter polymorphism (T-1486C) of TLR-9 gene is associated with knee osteoarthritis in a Turkish population. J Orthop Res 2017; 35: 2484-9.
- 12. Gambineri E, Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, and X-linkedinheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr Opin Rheumatol 2003; 15: 430-5.
- 13. Fontenot JD, Rasmussen JP, Williams LM, Dooley JL, Farr AG, Rudensky AY. Regulatory T cell lineage specification by the forkhead transcription factor foxp3. Immunity 2005; 22: 329-41.
- 14. Oda JMM, Hirata BKB, Guembarovski RL, Watanabe MAE. Genetic polymorphism in FOXP3 gene: imbalance in regulatory T-cell role and development of human diseases. J Genet 2013; 92: 163-71.
- 15. Eastell T, BSPAR Study Group, Hinks A, Thomson W. SNP’s in the FoxP3 gene region show no association with juvenile idiopathic arthritis in UK caucasian population. Rheumatology (Oxford) 2007; 46: 1263-5.
- 16. Bassuny WM, Ihara K, Sasaki Y, Kuromaru R, Kohno H, Matsuura N, Hara T. A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes. Immunogenetics 2003; 55: 149-56.
- 17. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleoted cells. Nucleic Acids Res 1988; 16: 1215.
- 18. Huang Q. Genetic study of complex diseases in the post-GWAS era. J Genet Genomics 2015; 42: 87-98.
- 19. Raine EV, Dodd AW, Reynard LN, Loughlin J. Allelic expression analysisof the osteoarthritis susceptibility gene COL11A1 in human joint tissues. BMC Musculoskelet Disord 2013; 14: 85.
- 20. Bravata V, Minafra L, Forte GI, Cammarata FP, Saporito M, Boniforti F, Lio D, Gilardi MC, Messa C. DVWA gene polymorphisms and osteoarthritis. BMC Res Notes 2015; 8: 30.
- 21. Miyamoto Y, Shi D, Nakajima M, Ozaki K, Sudo A, Kotani A, Uchida A, Tanaka T, Fukui N, Tsnoda T, Takahashi A, Nakamura Y, Jiang Q, Ikegawa S. Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis. Nat Genet 2008; 40: 994-8.
- 22. Takahashi H, Nakajima M, Ozaki K, Tanaka T, Kamatani N, Ikegawa S. Prediction model for knee osteoarthritis based on genetic and clinical information. Arthritis Res Ther 2010; 12: R187.
- 23. Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 2002; 39: 537-45.
- 24. Feng E, Gao H, Su W, Yu C. Immunotherapy of rat glioma without accumulation of CD4+CD25+FOXP3+ regulatory T cells. Neural Regen Res 2012; 7: 1498-506.
- 25. Sun L, Wu J, Yi S. Foxp3 is critical for human natural CD4+CD25+ regulatory T cells to suppress alloimmune response. Transpl Immunol 2012; 26: 71-80.
- 26. Moradi B, Schnatzer P, Hagmann S, Rosshirt N, Gotternbarm T, Kretzer JP, Thomsen M, Lorenz HM, Zeifang F, Tretter T. CD4+CD25+/highCD127low/- regulatory T cells are enriched in rheumatoid arthritis and osteoarthritis joints-analysis of frequency and phenotype in synovial membrane, synovial fluid and peripheral blood. Arthritis Res Ther 2014; 16: R97.
- 27. Inoue N, Watanabe M, Morita M, Tomizawa R, Akamizu T, Tatsumi K, Hidaka Y, Iwatani Y. Association of functional polymorphisms related to the transcriptional level of FOXP3 with prognosis of autoimmune thyroid diseases. Clin Exp Immunol 2010; 162: 402-6.
- 28. Zhang L, Zhang Y, Desrosiers M, Wang C, Zhao Y, Han D. Genetic association study of FOXP3 polymorphisms in allergic rhinitis in a Chinese population. Hum Immunol 2009; 70: 930-4.
Year 2017,
Volume: 39 Issue: 4, 659 - 664, 18.12.2017
Abstract
Amaç:
Bu çalışmada FOXP3
geni promotor bölgesi -3499A/G polimorfizmi ile osteoartrit riski arasındaki
ilişki bir Türk popülasyonunda araştırılmıştır.
Yöntem:
Çalışma grubu, 3. evre 50 ve 4. evre 100 OA hastasından, kontrol
grubu ise 150 sağlıklı bireyden oluşmuştur. FOXP3
genotipleri PCR-RFLP yöntemleri kullanılarak elde edilmiştir.
Bulgular:
Sonuçlarımız istatistiksel olarak OA riski ve FOXP3 geni promotor bölgesi -3499A/G
polimorfizmi arasında anlamlı bir ilişki olmadığını göstermiştir. Kontrol
grubunda doğal tip AA genotipi %63,
polimorfik AG %31 ve GG genotipi oranı % 6 bulunurken çalışma gurubunda
bu oranlar sırasıyla %56, %37 ve %7 olarak bulunmuştur.
Sonuç:
Kadınlarda erkeklere oranla daha sık gözlenmiştir ve bu gözlem,
önceki çalışmalarda elde edilen sonuçlar ile uyumludur.
Keywords
References
- 1. Zhang Y, Jordan JM. Epidemiology of Osteoarthritis. Clin Geriatr Med 2010; 26: 355-69.
- 2. Bijlsma JW, Berenbaum F, Lafeber FP. Osteoarthritis: an update with relevance for clinical practice. Lancet 2011; 377(9783): 2115-26.
- 3. Lotz MK, Kraus VB. New developments in osteoarthritis. Posttraumatic osteoarthritis: pathogenesis and pharmacological treatment options. Arthritis Res Ther 2010; 12: 211.
- 4. Sowers MR, Kavonen-Gutierrez CA. The evolving role of obesity in knee osteoarthritis. Curr Opin Rheumatol 2010; 22: 533-7.
- 5. Felson DT. An update on the pathogenesis and epidemiology of osteoarthritis. Radiol Clin N Am 2004; 42: 1-9.
- 6. Dieppe PA, Lohmander LS. Pathogenesis and management of pain in osteoarthritis. Lancet 2005; 365(9463): 965-73.
- 7. Sezgin M. Osteoartrit: Genetik. Türkiye Klinikleri Fiziksel Tıp Rehabilitasyon Osteoartrit Özel Sayı 2012; 5: 8-14.
- 8. Valdes AM, Doherty M, Spector TD. The additive effect of individual genes in predicting risk of knee osteoarthritis. Ann Rheum Dis 2008; 67: 124-7.
- 9. Guo SY, Ding YJ, Li L, Zhang T, Zhang ZZ, Zhang ES. Correlation of CD4+CD25+FoxP3+Treg with recovery of joint function after total knee replacement in rats with osteoarthritis. Genetics and Molecular Research 2015; 14: 7290-6.
- 10. Paradowska-Gorycka A, Jurkowska M, Felis-Giemza A, Romanowska-Prochnicka K, Manczak M, Maslinski S, Olesinska M. Genetic polymorphisms of FoxP3 in patients with rheumatoid arthritis. J Rheumatol 2015; 42: 2.
- 11. Balbaloglu O, Sabah Ozcan S, Korkmaz M, Yılmaz N. Promoter polymorphism (T-1486C) of TLR-9 gene is associated with knee osteoarthritis in a Turkish population. J Orthop Res 2017; 35: 2484-9.
- 12. Gambineri E, Torgerson TR, Ochs HD. Immune dysregulation, polyendocrinopathy, enteropathy, and X-linkedinheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. Curr Opin Rheumatol 2003; 15: 430-5.
- 13. Fontenot JD, Rasmussen JP, Williams LM, Dooley JL, Farr AG, Rudensky AY. Regulatory T cell lineage specification by the forkhead transcription factor foxp3. Immunity 2005; 22: 329-41.
- 14. Oda JMM, Hirata BKB, Guembarovski RL, Watanabe MAE. Genetic polymorphism in FOXP3 gene: imbalance in regulatory T-cell role and development of human diseases. J Genet 2013; 92: 163-71.
- 15. Eastell T, BSPAR Study Group, Hinks A, Thomson W. SNP’s in the FoxP3 gene region show no association with juvenile idiopathic arthritis in UK caucasian population. Rheumatology (Oxford) 2007; 46: 1263-5.
- 16. Bassuny WM, Ihara K, Sasaki Y, Kuromaru R, Kohno H, Matsuura N, Hara T. A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes. Immunogenetics 2003; 55: 149-56.
- 17. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleoted cells. Nucleic Acids Res 1988; 16: 1215.
- 18. Huang Q. Genetic study of complex diseases in the post-GWAS era. J Genet Genomics 2015; 42: 87-98.
- 19. Raine EV, Dodd AW, Reynard LN, Loughlin J. Allelic expression analysisof the osteoarthritis susceptibility gene COL11A1 in human joint tissues. BMC Musculoskelet Disord 2013; 14: 85.
- 20. Bravata V, Minafra L, Forte GI, Cammarata FP, Saporito M, Boniforti F, Lio D, Gilardi MC, Messa C. DVWA gene polymorphisms and osteoarthritis. BMC Res Notes 2015; 8: 30.
- 21. Miyamoto Y, Shi D, Nakajima M, Ozaki K, Sudo A, Kotani A, Uchida A, Tanaka T, Fukui N, Tsnoda T, Takahashi A, Nakamura Y, Jiang Q, Ikegawa S. Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis. Nat Genet 2008; 40: 994-8.
- 22. Takahashi H, Nakajima M, Ozaki K, Tanaka T, Kamatani N, Ikegawa S. Prediction model for knee osteoarthritis based on genetic and clinical information. Arthritis Res Ther 2010; 12: R187.
- 23. Wildin RS, Smyk-Pearson S, Filipovich AH. Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome. J Med Genet 2002; 39: 537-45.
- 24. Feng E, Gao H, Su W, Yu C. Immunotherapy of rat glioma without accumulation of CD4+CD25+FOXP3+ regulatory T cells. Neural Regen Res 2012; 7: 1498-506.
- 25. Sun L, Wu J, Yi S. Foxp3 is critical for human natural CD4+CD25+ regulatory T cells to suppress alloimmune response. Transpl Immunol 2012; 26: 71-80.
- 26. Moradi B, Schnatzer P, Hagmann S, Rosshirt N, Gotternbarm T, Kretzer JP, Thomsen M, Lorenz HM, Zeifang F, Tretter T. CD4+CD25+/highCD127low/- regulatory T cells are enriched in rheumatoid arthritis and osteoarthritis joints-analysis of frequency and phenotype in synovial membrane, synovial fluid and peripheral blood. Arthritis Res Ther 2014; 16: R97.
- 27. Inoue N, Watanabe M, Morita M, Tomizawa R, Akamizu T, Tatsumi K, Hidaka Y, Iwatani Y. Association of functional polymorphisms related to the transcriptional level of FOXP3 with prognosis of autoimmune thyroid diseases. Clin Exp Immunol 2010; 162: 402-6.
- 28. Zhang L, Zhang Y, Desrosiers M, Wang C, Zhao Y, Han D. Genetic association study of FOXP3 polymorphisms in allergic rhinitis in a Chinese population. Hum Immunol 2009; 70: 930-4.
There are 28 citations in total.
Details
| Subjects | Health Care Administration |
|---|---|
| Journal Section | Basic Science Research Articles |
| Authors | |
| Publication Date | December 18, 2017 |
| Acceptance Date | October 30, 2017 |
| Published in Issue | Year 2017Volume: 39 Issue: 4 |