Association of IL-1Ra Ser133Ser Variant with Susceptibility to Immune-Mediated and Inflammatory Diseases: A Meta-Analysis of 2622 Cases and 3854 Controls
-
Mahdiyeh HARATI-SADEGH
,
Saman SARGAZI
,
Roghayeh SHEERVALILOU
,
Saeed HOSSEINI TESHNIZI
,
Ramin SARAVANI
,
Shekoufeh MIRINEJAD
Abstract
Background: The rs315952 (Ser133Ser) has been reported to influence the risk for immune-mediated as well as inflammatory diseases in many studies; however, the results remain inconsistent. The current meta-analysis was performed to give a more precise estimation for the relationship between this IL-1Ra missense variant and the risk of both types of diseases.
Methods: Relevant publications were retrieved through a literature search in Web of Science, Medline, PubMed, Scopus, EMBASE, and Google scholar search engines, between 2000 and 2019. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to assess the strength of the association.
Results: Twenty-two studies, including 2622 cases with and 3854 controls were identified. The IL-1Ra Ser133Ser variant does not confer an increased overall risk for immune-mediated and inflammatory diseases. This variant was statistically associated with decreased risk of systemic lupus erythematosus (under allelic, codominant heterozygous, and dominant models) or ankylosing spondylitis (in allelic and recessive models)(OR<1). Moreover, alleles, as well as genotypes of the IL-1Ra Ser133Ser variant, may confer an increased risk of immune-mediated and inflammatory diseases in Hispanics. However, this variant was not associated with susceptibility to immune-mediated and inflammatory diseases in both Asians and Arabs.
Conclusion: The pooled results fail to support the hypothesis that the IL-1Ra Ser133Ser variant is associated with the overall risk of immune-mediated and inflammatory diseases. Performing large scale replication and meta-analysis of functional variants within this gene is encouraged to further investigate the influence of IL-1Ra SNPs on overall disease susceptibility.
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2. Tait K, Marshall T, Berman J, et al (2004). Clustering of autoimmune disease in parents of siblings from the Type 1 diabetes Warren repository. Diabet Med, 21(4):358-62.
3. Barnes PJ, Karin M (1997). Nuclear factor-kappaB: a pivotal transcription factor in chronic inflammatory diseases. N Engl J Med, 336(15):1066-71.
4. Zhang G-L, Zou Y-F, Feng X-L, et al (2011). Association of the NFKBIA gene polymorphisms with susceptibility to autoimmune and inflammatory diseases: a meta-analysis. Inflamm Res, 60(1):11-8.
5. Lawrence T, Willoughby DA, Gilroy DW (2002). Anti-inflammatory lipid mediators and insights into the resolution of inflammation. Nat Rev Immunol, 2(10):787-95.
6. Karimbux NY, Saraiya VM, Elangovan S, et al (2012). Interleukin‐1 gene polymorphisms and chronic periodontitis in adult whites: a systematic review and meta‐analysis. J Periodontol, 83: 1407-19.
7. Sims A-M, Timms AE, Bruges-Armas J, et al (2008). Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis. Ann Rheum Dis, 67(9):1305-9.
8. Harrison P, Pointon J, Chapman K, et al (2008). Interleukin-1 promoter region polymorphism role in rheumatoid arthritis: a meta-analysis of IL-1B-511A/G variant reveals association with rheumatoid arthritis. Rheumatology (Oxford), 47(12):1768-70.
9. Jotanovic Z, Mihelic R, Sestan B, Dembic Z (2012). Role of interleukin-1 inhibitors in osteoarthritis. Drugs Aging, 29: 343-58.
10. Arend WP (2002). The balance between IL-1 and IL-1Ra in disease. Cytokine Growth Factor Rev, 13(4-5):323-40.
11. Buchs Nd, Di Giovine F, Silvestri T, et al (2001). IL-1B and IL-1Ra gene polymorphisms and disease severity in rheumatoid arthritis: interaction with their plasma levels. Genes Immun, 2(4):222-8.
12. Ludwiczek O, Vannier E, Borggraefe I, et al (2004). Imbalance between interleukin‐1 agonists and antagonists: relationship to severity of inflammatory bowel disease. Clin Exp Immunol, 138: 323-329.
13. Kay J, Calabrese L (2004). The role of interleukin-1 in the pathogenesis of rheumatoid arthritis. Rheumatology (Oxford), 3: iii2-iii9.
14. Juge-Aubry CE, Meier CA (2002). Immunomodulatory actions of leptin. Mol CelL Endocrinol, 194(1-2):1-7.
15. Svensson P-A, Hägg DA, Jernås M, et al (2004). Identification of genes predominantly expressed in human macrophages. Atherosclerosis, 177(2):287-90.
16. Attur M, Kerkhof H, Oh C, et al (2010). Association of interleukin-1 receptor antagonist (IL-1RN) TTG haplotype with radiographic knee OA severity in meta-analysis. Osteoarthr Cartilage, 18:S172.
17. Lohmueller KE, Pearce CL, Pike M, et al (2003). Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet, 33(2):177-82.
18. Martorell-Marugan J, Toro-Dominguez D, Alarcon-Riquelme ME, Carmona-Saez P (2017). MetaGenyo: a web tool for meta-analysis of genetic association studies. BMC bioinformatics, 18(1):563.
19. Chou CT, Timms AE, Wei JC, et al (2006). Replication of association of IL1 gene complex members with ankylosing spondylitis in Taiwanese Chinese. Ann Rheum Dis, 65(8): 1106–1109.
20. Ad'hiah AH, Hessan EB, Shahab BA (2019). Interleukin-1 single nucleotide polymorphisms as risk factors for susceptibility of inflammatory bowel disease: an Iraqi Arab population-based study. Alex J Med, 55: 1-6.
21. Assari R, Aghighi Y, Ziaee V, et al (2018). Pro‐inflammatory cytokine single nucleotide polymorphisms in Kawasaki disease. Int J Rheum Dis, 21(5):1120-1126.
22. Behniafard N, Gharagozlou M, Sotoudeh S, et al (2014). Association of single nucleotide polymorphisms of interleukin-1 family with atopic dermatitis. Allergol Immunopathol (Madr), 42(3):212-5.
23. Guo Z, Li C, Lin Z, et al (2010). Association of IL‐1 gene complex members with ankylosing spondylitis in Chinese Han population. Int J Immunogenet, 37(1):33-7.
24. Jung M, Kang S, Kim S, et al (2010). The interleukin-1 family gene polymorphisms in Korean patients with rheumatoid arthritis. Scand J Rheumatol, 39(3):190-6.
25. Karasneh JA, Ababneh KT, Taha AH, et al (2011). Investigation of the interleukin-1 gene cluster polymorphisms in Jordanian patients with chronic and aggressive periodontitis. Arch Oral Biol, 56(3):269-76.
26. Khalilzadeh O, Anvari M, Esteghamati A, et al (2010). The interleukin-1 family gene polymorphisms and Graves' disease. Ann Endocrinol (Paris), 71(4):281-5.
27. Kim SK, Kang SW, Chung J-H, et al (2011). Coding single-nucleotide polymorphisms of interleukin-1 gene cluster are not associated with Kawasaki disease in the Korean population. Pediatr Cardiol, 32(4):381-5.
28. Soto Lopez ME, Gamboa Avila R, Hernández E, et al (2013). The interleukin-1 gene cluster polymorphisms are associated with Takayasu's arteritis in Mexican patients. J Interferon Cytokine Res, 33: 369-75.
29. Mahdaviani SA, Rezaei N, Moradi B, et al (2009). Proinflammatory cytokine gene polymorphisms among Iranian patients with asthma. J Clin Immunol, 29(1):57-62.
30. Mahmoudi M, Amirzargar A, Jamshidi A, et al (2011). Association of IL1R polymorphism with HLA-B27 positive in Iranian patients with ankylosing spondylitis. Eur Cytokine Netw, 22(4):175-80.
31. Nasiri R, Amirzargar AA, Movahedi M, et al (2013). Single-nucleotide polymorphisms of TNFA and IL1 in allergic rhinitis. J Investig Allergol Clin Immunol, 23(7):455-61.
32. Osman A, Mubasher M, ElSheikh N, et al (2016). Association of single nucleotide polymorphisms in pro-inflammatory cytokine and toll-like receptor genes with pediatric hematogenous osteomyelitis. Genet Mol Res, 23: 15(2).
33. Schulz S, Stein JM, Altermann W, et al (2011). Single nucleotide polymorphisms in interleukin-1gene cluster and subgingival colonization with Aggregatibacter actinomycetemcomitans in patients with aggressive periodontitis. Hum Immunol, 72(10):940-6.
34. Tahmasebi Z, Akbarian M, Mirkazemi S, et al (2013). Interleukin-1 gene cluster and IL-1 receptor polymorphisms in Iranian patients with systemic lupus erythematosus. Rheumatol int, 33(10):2591-6.
35. Tsai LJ, Lan JL, Lin CY, et al (2006). The different expression patterns of interleukin‐1 receptor antagonist in systemic lupus erythematosus. Tissue Antigens, 68 (6): 493-501.
36. Wu X, Kondragunta V, Kornman K, et al (2013). IL-1 receptor antagonist gene as a predictive biomarker of progression of knee osteoarthritis in a population cohort. Osteoarthritis Cartilage, 21(7): 930-8.
37. Yamamoto-Furusho JK, Santiago-Hernandez JJ, Pérez-Hernández N, et al (2011). Interleukin 1 β (IL-1B) and IL-1 antagonist receptor (IL-1RN) gene polymorphisms are associated with the genetic susceptibility and steroid dependence in patients with ulcerative colitis. J Clin Gastroenterol, 45(6): 531-5.
38. Yousefi A, Najafi M, Motamed F, et al (2018). Association of Interleukin-6 and Interleukin-1 Family Gene Polymorphisms in Autoimmune Hepatitis. Ann Hepatol, 17(6): 1021-5.
39. Ziaee V, Tahghighi F, Moradinejad MH, et al (2014). Interleukin-6, interleukin-1 gene cluster and interleukin-1 receptor polymorphisms in Iranian patients with juvenile systemic lupus erythematosus. Eur Cytokine Netw, 25(2): 35-40.
40. Ziaee V, Maddah M, Harsini S, et al (2016). Association of interleukin-1 family gene polymorphisms with juvenile idiopathic arthritis in Iranian population. Allergologia et Immunopathologia, 44: 542-6.
41. Bozdoğan S, Erol B, Dursun A, Bozdoğan G, et al (2015). The IL-1RN and IL-4 gene polymorphisms are potential genetic markers of susceptibility to bladder cancer: a case–control study. World J Urol, 33(3): 389-95.
42. Qiao J, Jia QN, Jin HZ (2019). Lack of association of the IL‐1RN and IL‐10 polymorphisms with risk of psoriasis: A meta‐analysis. Mol genet Genom Med, 7(1):e00512.
43. Di Paolo NC, Shayakhmetov DM (2016). Interleukin 1α and the inflammatory process. Nat Immunol, 17(8):906.
44. Jin G, Duan J, Guo W, et al (2013). Association between IL-1RN gene polymorphisms and susceptibility to ankylosing spondylitis: a large Human Genome Epidemiology review and meta-analysis. Genet Mol Res, 12(2):1720-30.
45. Corleto VD, Pagnini C, Margagnoni G, et al (2010). IL-1β-511 and IL-1RN* 2 polymorphisms in inflammatory bowel disease: An Italian population study and meta-analysis of European studies. Dig Liver Dis, 42(3):179-84.
2. Tait K, Marshall T, Berman J, et al (2004). Clustering of autoimmune disease in parents of siblings from the Type 1 diabetes Warren repository. Diabet Med, 21(4):358-62.
3. Barnes PJ, Karin M (1997). Nuclear factor-kappaB: a pivotal transcription factor in chronic inflammatory diseases. N Engl J Med, 336(15):1066-71.
4. Zhang G-L, Zou Y-F, Feng X-L, et al (2011). Association of the NFKBIA gene polymorphisms with susceptibility to autoimmune and inflammatory diseases: a meta-analysis. Inflamm Res, 60(1):11-8.
5. Lawrence T, Willoughby DA, Gilroy DW (2002). Anti-inflammatory lipid mediators and insights into the resolution of inflammation. Nat Rev Immunol, 2(10):787-95.
6. Karimbux NY, Saraiya VM, Elangovan S, et al (2012). Interleukin‐1 gene polymorphisms and chronic periodontitis in adult whites: a systematic review and meta‐analysis. J Periodontol, 83: 1407-19.
7. Sims A-M, Timms AE, Bruges-Armas J, et al (2008). Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis. Ann Rheum Dis, 67(9):1305-9.
8. Harrison P, Pointon J, Chapman K, et al (2008). Interleukin-1 promoter region polymorphism role in rheumatoid arthritis: a meta-analysis of IL-1B-511A/G variant reveals association with rheumatoid arthritis. Rheumatology (Oxford), 47(12):1768-70.
9. Jotanovic Z, Mihelic R, Sestan B, Dembic Z (2012). Role of interleukin-1 inhibitors in osteoarthritis. Drugs Aging, 29: 343-58.
10. Arend WP (2002). The balance between IL-1 and IL-1Ra in disease. Cytokine Growth Factor Rev, 13(4-5):323-40.
11. Buchs Nd, Di Giovine F, Silvestri T, et al (2001). IL-1B and IL-1Ra gene polymorphisms and disease severity in rheumatoid arthritis: interaction with their plasma levels. Genes Immun, 2(4):222-8.
12. Ludwiczek O, Vannier E, Borggraefe I, et al (2004). Imbalance between interleukin‐1 agonists and antagonists: relationship to severity of inflammatory bowel disease. Clin Exp Immunol, 138: 323-329.
13. Kay J, Calabrese L (2004). The role of interleukin-1 in the pathogenesis of rheumatoid arthritis. Rheumatology (Oxford), 3: iii2-iii9.
14. Juge-Aubry CE, Meier CA (2002). Immunomodulatory actions of leptin. Mol CelL Endocrinol, 194(1-2):1-7.
15. Svensson P-A, Hägg DA, Jernås M, et al (2004). Identification of genes predominantly expressed in human macrophages. Atherosclerosis, 177(2):287-90.
16. Attur M, Kerkhof H, Oh C, et al (2010). Association of interleukin-1 receptor antagonist (IL-1RN) TTG haplotype with radiographic knee OA severity in meta-analysis. Osteoarthr Cartilage, 18:S172.
17. Lohmueller KE, Pearce CL, Pike M, et al (2003). Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet, 33(2):177-82.
18. Martorell-Marugan J, Toro-Dominguez D, Alarcon-Riquelme ME, Carmona-Saez P (2017). MetaGenyo: a web tool for meta-analysis of genetic association studies. BMC bioinformatics, 18(1):563.
19. Chou CT, Timms AE, Wei JC, et al (2006). Replication of association of IL1 gene complex members with ankylosing spondylitis in Taiwanese Chinese. Ann Rheum Dis, 65(8): 1106–1109.
20. Ad'hiah AH, Hessan EB, Shahab BA (2019). Interleukin-1 single nucleotide polymorphisms as risk factors for susceptibility of inflammatory bowel disease: an Iraqi Arab population-based study. Alex J Med, 55: 1-6.
21. Assari R, Aghighi Y, Ziaee V, et al (2018). Pro‐inflammatory cytokine single nucleotide polymorphisms in Kawasaki disease. Int J Rheum Dis, 21(5):1120-1126.
22. Behniafard N, Gharagozlou M, Sotoudeh S, et al (2014). Association of single nucleotide polymorphisms of interleukin-1 family with atopic dermatitis. Allergol Immunopathol (Madr), 42(3):212-5.
23. Guo Z, Li C, Lin Z, et al (2010). Association of IL‐1 gene complex members with ankylosing spondylitis in Chinese Han population. Int J Immunogenet, 37(1):33-7.
24. Jung M, Kang S, Kim S, et al (2010). The interleukin-1 family gene polymorphisms in Korean patients with rheumatoid arthritis. Scand J Rheumatol, 39(3):190-6.
25. Karasneh JA, Ababneh KT, Taha AH, et al (2011). Investigation of the interleukin-1 gene cluster polymorphisms in Jordanian patients with chronic and aggressive periodontitis. Arch Oral Biol, 56(3):269-76.
26. Khalilzadeh O, Anvari M, Esteghamati A, et al (2010). The interleukin-1 family gene polymorphisms and Graves' disease. Ann Endocrinol (Paris), 71(4):281-5.
27. Kim SK, Kang SW, Chung J-H, et al (2011). Coding single-nucleotide polymorphisms of interleukin-1 gene cluster are not associated with Kawasaki disease in the Korean population. Pediatr Cardiol, 32(4):381-5.
28. Soto Lopez ME, Gamboa Avila R, Hernández E, et al (2013). The interleukin-1 gene cluster polymorphisms are associated with Takayasu's arteritis in Mexican patients. J Interferon Cytokine Res, 33: 369-75.
29. Mahdaviani SA, Rezaei N, Moradi B, et al (2009). Proinflammatory cytokine gene polymorphisms among Iranian patients with asthma. J Clin Immunol, 29(1):57-62.
30. Mahmoudi M, Amirzargar A, Jamshidi A, et al (2011). Association of IL1R polymorphism with HLA-B27 positive in Iranian patients with ankylosing spondylitis. Eur Cytokine Netw, 22(4):175-80.
31. Nasiri R, Amirzargar AA, Movahedi M, et al (2013). Single-nucleotide polymorphisms of TNFA and IL1 in allergic rhinitis. J Investig Allergol Clin Immunol, 23(7):455-61.
32. Osman A, Mubasher M, ElSheikh N, et al (2016). Association of single nucleotide polymorphisms in pro-inflammatory cytokine and toll-like receptor genes with pediatric hematogenous osteomyelitis. Genet Mol Res, 23: 15(2).
33. Schulz S, Stein JM, Altermann W, et al (2011). Single nucleotide polymorphisms in interleukin-1gene cluster and subgingival colonization with Aggregatibacter actinomycetemcomitans in patients with aggressive periodontitis. Hum Immunol, 72(10):940-6.
34. Tahmasebi Z, Akbarian M, Mirkazemi S, et al (2013). Interleukin-1 gene cluster and IL-1 receptor polymorphisms in Iranian patients with systemic lupus erythematosus. Rheumatol int, 33(10):2591-6.
35. Tsai LJ, Lan JL, Lin CY, et al (2006). The different expression patterns of interleukin‐1 receptor antagonist in systemic lupus erythematosus. Tissue Antigens, 68 (6): 493-501.
36. Wu X, Kondragunta V, Kornman K, et al (2013). IL-1 receptor antagonist gene as a predictive biomarker of progression of knee osteoarthritis in a population cohort. Osteoarthritis Cartilage, 21(7): 930-8.
37. Yamamoto-Furusho JK, Santiago-Hernandez JJ, Pérez-Hernández N, et al (2011). Interleukin 1 β (IL-1B) and IL-1 antagonist receptor (IL-1RN) gene polymorphisms are associated with the genetic susceptibility and steroid dependence in patients with ulcerative colitis. J Clin Gastroenterol, 45(6): 531-5.
38. Yousefi A, Najafi M, Motamed F, et al (2018). Association of Interleukin-6 and Interleukin-1 Family Gene Polymorphisms in Autoimmune Hepatitis. Ann Hepatol, 17(6): 1021-5.
39. Ziaee V, Tahghighi F, Moradinejad MH, et al (2014). Interleukin-6, interleukin-1 gene cluster and interleukin-1 receptor polymorphisms in Iranian patients with juvenile systemic lupus erythematosus. Eur Cytokine Netw, 25(2): 35-40.
40. Ziaee V, Maddah M, Harsini S, et al (2016). Association of interleukin-1 family gene polymorphisms with juvenile idiopathic arthritis in Iranian population. Allergologia et Immunopathologia, 44: 542-6.
41. Bozdoğan S, Erol B, Dursun A, Bozdoğan G, et al (2015). The IL-1RN and IL-4 gene polymorphisms are potential genetic markers of susceptibility to bladder cancer: a case–control study. World J Urol, 33(3): 389-95.
42. Qiao J, Jia QN, Jin HZ (2019). Lack of association of the IL‐1RN and IL‐10 polymorphisms with risk of psoriasis: A meta‐analysis. Mol genet Genom Med, 7(1):e00512.
43. Di Paolo NC, Shayakhmetov DM (2016). Interleukin 1α and the inflammatory process. Nat Immunol, 17(8):906.
44. Jin G, Duan J, Guo W, et al (2013). Association between IL-1RN gene polymorphisms and susceptibility to ankylosing spondylitis: a large Human Genome Epidemiology review and meta-analysis. Genet Mol Res, 12(2):1720-30.
45. Corleto VD, Pagnini C, Margagnoni G, et al (2010). IL-1β-511 and IL-1RN* 2 polymorphisms in inflammatory bowel disease: An Italian population study and meta-analysis of European studies. Dig Liver Dis, 42(3):179-84.
| Files | ||
| Issue | Vol 49 No 12 (2020) | |
| Section | Review Article(s) | |
| DOI | https://doi.org/10.18502/ijph.v49i12.4814 | |
| Keywords | ||
| Polymorphism Inflammation Autoimmunity Meta-analysis | ||
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How to Cite
1.
HARATI-SADEGH M, SARGAZI S, SHEERVALILOU R, HOSSEINI TESHNIZI S, SARAVANI R, MIRINEJAD S. Association of IL-1Ra Ser133Ser Variant with Susceptibility to Immune-Mediated and Inflammatory Diseases: A Meta-Analysis of 2622 Cases and 3854 Controls. Iran J Public Health. 2020;49(12):2320-2329.
