Interleukin-23 receptor gene polymorphisms in Iranian patients with juvenile systemic lupus erythematosus
Main Article Content
Keywords
Interleukin-23 receptor, Single nucleotide polymorphism, Systemic lupus erythematosus, Children
Abstract
Introduction and objectives: Considering the possible roles of interleukin-23 receptor (IL-23R) gene in the pathogenesis of juvenile systemic lupus erythematosus (JSLE), the objective of this study was to elucidate whether polymorphisms of the IL23R are associated with susceptibility to JSLE in an Iranian population.
Materials and methods: A case-control study on 62 patients with JSLE and 78 healthy controls was performed to investigate the associations of four single nucleotide polymorphisms (SNPs) in IL-23R gene, namely, rs7517847, rs10489629, rs11209026, and rs1343151, with susceptibility to JSLE, using real-time polymerase chain reaction Taqman genotyping technique.
Results: Analysis of allele and genotype frequency of four selected SNPs revealed statistically significant positive association between homozygous variant of rs7517847 (TT) (P, 0.02) and T allele at the same position (P, 0.01) with JSLE vulnerability. There was no significant association between other evaluated SNPs and JSLE susceptibility.
Conclusion: These findings suggest that particular IL-23R gene variants could affect individual susceptibility to JSLE.
References
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29. Safrany E, Hobor R, Jakab L, Tarr T, Csongei V, Jaromi L, et al. Interleukin-23 receptor gene variants in Hungarian systemic lupus erythematosus patients. Inflamm Res. 2010;59:159-64.
30. Chen GM, Feng CC, Ye QL, Wang J, Cen H, Li R, et al. Lack of association between IL-23R gene polymorphisms and systemic lupus erythematosus in a Chinese population. Inflamm Res. 2013;62:791-5, http://dx.doi.org/10.1007/s00011-013-0636-x.
31. Rueda B, Broen J, Torres O, Simeon C, Ortego-Centeno N, Schrijvenaars MM, et al. The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype. Ann Rheumat Dis. 2009;68:253-6, http://dx.doi.org/10.1136/ard.2008.096719.
32. Farago B, Magyari L, Safrany E, Csongei V, Jaromi L, Horvatovich K, et al. Functional variants of interleukin-23 receptor gene confer risk for rheumatoid arthritis but not for systemic sclerosis. Ann Rheumat Dis. 2008;67:248-50, http://dx.doi.org/10.1136/ard.2007.072819.
33. Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science (NY). 2006;314:1461-3, http://dx.doi.org/10.1126/science.1135245.
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35. Zhai Y, Xu K, Huang F, Peng H, Feng CC, Zhu KK, et al. Association of interleukin 23 receptor gene polymorphisms (rs10489629, rs7517847) with rheumatoid arthritis in European population: a meta-analysis. Mol Biol Rep. 2012;39:8987-94, http://dx.doi.org/10.1007/s11033-012-1768-8.
36. Karaderi T, Harvey D, Farrar C, Appleton LH, Stone MA, Sturrock RD, et al. Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series. Rheumatology (Oxford, England). 2009;48:386-9, http://dx.doi.org/10.1093/rheumatology/ken501.
37. Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP, et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Human Genet. 2007;80:273-90, http://dx.doi.org/10.1086/511051.
38. Sanchez E, Morales S, Paco L, Lopez-Nevot MA, Hidalgo C, Jimenez-Alonso J, et al. Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and interleukin 23 (IL23A) gene polymorphism in systemic lupus erythematosus. Rheumatology (Oxford, England). 2005;44:1136-9, http://dx.doi.org/10.1093/rheumatology/keh697.
39. Ronnblom L, Eloranta ML, Alm GV. The type I interferon system in systemic lupus erythematosus. Arthritis Rheumatism. 2006;54:408-20, http://dx.doi.org/10.1002/art.21571.
2. Jaybhaye AP, Sutay NR, Chate SV, Rathod TN. Juvenile systemic lupus erythematosus: a diagnostic dilemma. J Nat Sci Biol Med. 2011;2:229.
3. Tahghighi F, Ziaee V, Moradinejad MH, Rezaei A, Harsini S, Soltani S, et al. Tumor necrosis factor-alpha single nucleotide polymorphisms in juvenile systemic lupus erythematosus. Human Immunol. 2015;76:533-6.
4. Fortuna G, Brennan MT. Systemic lupus erythematosus: epidemiology, pathophysiology, manifestations, and management. Dent Clin. 2013;57:631-55.
5. Sule S, Rosen A, Petri M, Akhter E, Andrade F. Abnormal production of pro-and anti-inflammatory cytokines by lupus monocytes in response to apoptotic cells. PLoS One. 2011;6:e17495.
6. Gehrke N, Mertens C, Zillinger T, Wenzel J, Bald T, Zahn S, et al. Oxidative damage of DNA confers resistance to cytosolic nuclease TREX1 degradation and potentiates STING-dependent immune sensing. Immunity. 2013;39:482-95.
7. Harsini S, Saghazadeh A, Nedjat S, Rezaei N. Associations between interleukin-10 polymorphisms and susceptibility to juvenile idiopathic arthritis: a systematic review and meta-analysis. Eur Cytokine Network. 2018;29:16-26, http://dx.doi.org/10.1684/ecn.2018.0404.
8. Maddah M, Harsini S, Ziaee V, Moradinejad MH, Rezaei A, Zoghi S, et al. Association of tumour necrosis factor-alpha G/A-238 and G/A -308 single nucleotide polymorphisms with juvenile idiopathic arthritis. Int J Immunogenet. 2016;43:391-6, http://dx.doi.org/10.1111/iji.12291.
9. Ziaee V, Maddah M, Harsini S, Rezaei A, Sadr M, Zoghi S, et al. Association of interleukin-1 family gene polymorphisms with juvenile idiopathic arthritis in Iranian population. Allergologia et immunopathologia. 2016;44:542-6, http://dx.doi.org/10.1016/j.aller.2016.07.002.
10. Ziaee V, Maddah M, Moradinejad MH, Rezaei A, Zoghi S, Sadr M, et al. Association of interleukin-6 single nucleotide polymorphisms with juvenile idiopathic arthritis. Clin Rheumatol. 2017;36:77-81, http://dx.doi.org/10.1007/s10067-016-3407-6.
11. Harsini S, Ziaee V, Tahghighi F, Mahmoudi M, Rezaei A, Soltani S, et al. Association of interleukin-2 and interferon-gamma single nucleotide polymorphisms with Juvenile systemic lupus erythematosus. Allergologia et immunopathologia. 2016;44:422-6, http://dx.doi.org/10.1016/j.aller.2015.12.005.
12. Harsini S, Ziaee V, Maddah M, Rezaei A, Sadr M, Zoghi S, et al. Interleukin 10 and transforming growth factor beta 1 gene polymorphisms in juvenile idiopathic arthritis. Bratislavske lekarske listy. 2016;117:258-62.
13. Maddah M, Harsini S, Rezaei A, Sadr M, Zoghi S, Moradinejad MH, et al. Association of Interleukin-2, but not Interferon-Gamma, single nucleotide polymorphisms with juvenile idiopathic arthritis. Allergologia et immunopathologia. 2016;44:303-6,
http://dx.doi.org/10.1016/j.aller.2015.10.005.
14. Ziaee V, Rezaei A, Harsini S, Maddah M, Zoghi S, Sadr M, et al. Polymorphisms of genes encoding interleukin4 and its receptor in Iranian patients with juvenile idiopathic arthritis. Clin Rheumatol. 2016;35:1943-8, http://dx.doi.org/10.1007/s10067-016-3224-y.
15. Tahghighi F, Ziaee V, Moradinejad MH, Rezaei A, Harsini S, Soltani S, et al. Tumor necrosis factor-alpha single nucleotide polymorphisms in juvenile systemic lupus erythematosus. Human Immunol. 2015;76:533-6, http://dx.doi.org/10.1016/j.humimm.2015.06.011.
16. Rezaei A, Ziaee V, Sharabian FT, Harsini S, Mahmoudi M, Soltani S, et al. Lack of association between interleukin-10, transforming growth factor-beta gene polymorphisms and juvenile-onset systemic lupus erythematosus. Clin Rheumatol. 2015;34:1059-64, http://dx.doi.org/10.1007/s10067-015-2877-2.
17. Mahmoudi M, Tahghighi F, Ziaee V, Harsini S, Rezaei A, Soltani S, et al. Interleukin-4 single nucleotide polymorphisms in juvenile systemic lupus erythematosus. Int J Immunogenet. 2014;41:512-7, http://dx.doi.org/10.1111/iji.12152.
18. Ziaee V, Tahghighi F, Moradinejad MH, Harsini S, Mahmoudi M, Rezaei A, et al. Interleukin-6, interleukin-1 gene cluster and interleukin-1 receptor polymorphisms in Iranian patients with juvenile systemic lupus erythematosus. Eur Cytokine Network. 2014;25:35-40, http://dx.doi.org/10.1684/ecn.2014.0352.
19. Langrish CL, Chen Y, Blumenschein WM, Mattson J, Basham B, Sedgwick JD, et al. IL-23 drives a pathogenic T cell population that induces autoimmune inflammation. J Exp Med. 2005;201:233-40.
20. Oppmann B, Lesley R, Blom B, Timans JC, Xu Y, Hunte B, et al. Novel p19 protein engages IL-12p40 to form a cytokine, IL-23, with biological activities similar as well as distinct from IL-12. Immunity. 2000;13:715-25.
21. Imani D, Rezaei R, Poorsheikhani A, Alizadeh S, Mahmoudi M. Association of IL-23R gene rs7517847 T> G SNP and susceptibility
to systemic lupus erythematosus: a systematic review and metaanalysis. Rheumatol Res. 2018;3:13-20.
22. Sanchez E, Rueda B, Callejas J, Sabio J, Ortego-Centeno N, Jimenez-Alonso J, et al. Analysis of interleukin-23 receptor (IL23R) gene polymorphisms in systemic lupus erythematosus. Tissue Antigens. 2007;70:233-7.
23. McKenzie BS, Kastelein RA, Cua DJ. Understanding the IL-23---IL17 immune pathway. Trend Immunol. 2006;27:17-23.
24. Korn T, Bettelli E, Oukka M, Kuchroo VK. IL-17 and Th17 Cells. Ann Rev Immunol. 2009;27:485-517.
25. Trinchieri G, Pflanz S, Kastelein RA. The IL-12 family of heterodimeric cytokines: new players in the regulation of T cell responses. Immunity. 2003;19:641-4.
26. Liu Y, Krueger J, Bowcock A. Psoriasis: genetic associations and immune system changes. Genes Immunity. 2007;8:1.
27. Li Y, Liang W-B, Li C, Gao L-B, Zhou B, Wang Y-Y, et al. The association between interleukin-23 receptor gene polymorphisms and systemic lupus erythematosus. DNA Cell Biol. 2010;29: 79-82.
28. Kim H-S, Kim I, Kim JO, Bae JS, Shin HD, Bae S-C. No association between interleukin 23 receptor gene polymorphisms and systemic lupus erythematosus. Rheumatol Int. 2009;30:33-8.
29. Safrany E, Hobor R, Jakab L, Tarr T, Csongei V, Jaromi L, et al. Interleukin-23 receptor gene variants in Hungarian systemic lupus erythematosus patients. Inflamm Res. 2010;59:159-64.
30. Chen GM, Feng CC, Ye QL, Wang J, Cen H, Li R, et al. Lack of association between IL-23R gene polymorphisms and systemic lupus erythematosus in a Chinese population. Inflamm Res. 2013;62:791-5, http://dx.doi.org/10.1007/s00011-013-0636-x.
31. Rueda B, Broen J, Torres O, Simeon C, Ortego-Centeno N, Schrijvenaars MM, et al. The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype. Ann Rheumat Dis. 2009;68:253-6, http://dx.doi.org/10.1136/ard.2008.096719.
32. Farago B, Magyari L, Safrany E, Csongei V, Jaromi L, Horvatovich K, et al. Functional variants of interleukin-23 receptor gene confer risk for rheumatoid arthritis but not for systemic sclerosis. Ann Rheumat Dis. 2008;67:248-50, http://dx.doi.org/10.1136/ard.2007.072819.
33. Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science (NY). 2006;314:1461-3, http://dx.doi.org/10.1126/science.1135245.
34. Cua DJ, Sherlock J, Chen Y, Murphy CA, Joyce B, Seymour B, et al. Interleukin-23 rather than interleukin-12 is the critical cytokine for autoimmune inflammation of the brain. Nature. 2003;421:744-8, http://dx.doi.org/10.1038/nature01355.
35. Zhai Y, Xu K, Huang F, Peng H, Feng CC, Zhu KK, et al. Association of interleukin 23 receptor gene polymorphisms (rs10489629, rs7517847) with rheumatoid arthritis in European population: a meta-analysis. Mol Biol Rep. 2012;39:8987-94, http://dx.doi.org/10.1007/s11033-012-1768-8.
36. Karaderi T, Harvey D, Farrar C, Appleton LH, Stone MA, Sturrock RD, et al. Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series. Rheumatology (Oxford, England). 2009;48:386-9, http://dx.doi.org/10.1093/rheumatology/ken501.
37. Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP, et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Human Genet. 2007;80:273-90, http://dx.doi.org/10.1086/511051.
38. Sanchez E, Morales S, Paco L, Lopez-Nevot MA, Hidalgo C, Jimenez-Alonso J, et al. Interleukin 12 (IL12B), interleukin 12 receptor (IL12RB1) and interleukin 23 (IL23A) gene polymorphism in systemic lupus erythematosus. Rheumatology (Oxford, England). 2005;44:1136-9, http://dx.doi.org/10.1093/rheumatology/keh697.
39. Ronnblom L, Eloranta ML, Alm GV. The type I interferon system in systemic lupus erythematosus. Arthritis Rheumatism. 2006;54:408-20, http://dx.doi.org/10.1002/art.21571.
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Rezaei, A., Harsini, S., Sadr, M., Ziaee, V., & Rezaei, N. (2020). Interleukin-23 receptor gene polymorphisms in Iranian patients with juvenile systemic lupus erythematosus. Allergologia Et Immunopathologia, 48(1), 62-66. https://all-imm.com/index.php/aei/article/view/254
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How to Cite
Rezaei, A., Harsini, S., Sadr, M., Ziaee, V., & Rezaei, N. (2020). Interleukin-23 receptor gene polymorphisms in Iranian patients with juvenile systemic lupus erythematosus. Allergologia Et Immunopathologia, 48(1), 62-66. https://all-imm.com/index.php/aei/article/view/254