Association of CTLA4 and TNF gene polymorphisms with endocrine ophthalmopathy in ethnic Russian patients with Graves’ disease


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Abstract

Aim. To analyze the associations of the rs3087243 CTLA4 polymorphism and the rs1800629 TNF polymorphism with endocrine ophthalmopathy (EOP) in ethnic Russian patients with Graves’ disease (GD). Subjects and methods. The case-control study enrolled 205 patients with GD. The distribution of alleles and genotypes of the rs3087243 CTLA4 and rs1800629 TNF polymorphisms was studied in 141 patients with GD and EOP (a GD+EOP group) and 64 patients with GD without EOP (a GD-EOP group). The polymorphic alleles were identified by polymerase chain reaction-restriction fragment length analysis. Results. The patients with GD in their history and EOP had significantly higher frequencies of A allele and AA genotype and a lower proportion of G allele and GG genotype of the rs3087243 CTLA4 polymorphism. Comparative analysis revealed no significant differences in the frequency of the alleles and genotypes of the rs1800629 TNF polymorphism. Conclusion. The rs3087243 CTLA4 polymorphism is associated with the risk of EOP in ethnic Russian patients with GD.

References

  1. Bahn RS. Graves’ ophthalmopathy. N Engl J Med. 2010;362(8):726-738.
  2. Wiersinga WM, Kahaly GJ, eds. Graves’ Orbitopathy: A Multidisciplinary Approach — Questions and Answers. Basel, Karger; 2010.
  3. Khalilzadeh O, Anvari M, Esteghamati A, Mahmoudi M, Tahvildari M, Rashidi A, Khosravi F, Amirzargar A. Graves’ ophthalmopathy and gene polymorphisms in interleukin-1alpha, interleukin-1beta, interleukin-1 receptor and interleukin-1 receptor antagonist. Clin ExperimentOphthalmol. 2009;37:614-619.
  4. Khalilzadeh O, Anvari M, Esteghamati A, Momen-Heravi F, Rashidi A, Amiri HM, Tahvildari M, Mahmoudi M, Amirzargar A. Genetic susceptibility to Graves’ ophthalmopathy: The role of polymorphisms in anti-inflammatory cytokine genes. OphthalmicGenet. 2010;31:215-220.
  5. Anvari M, Khalilzadeh O, Esteghamati A, Esfahani SA, Rashidi A, Etemadi A, Mahmoudi M, Amirzargar AA. Genetic susceptibility to Graves’ ophthalmopathy: the role of polymorphisms in proinflammatory cytokine genes. Eye (Lond). 2010;24: 1058-1063.
  6. Zhu W, Liu N, Zhao Y, Jia H, Cui B, Ning G. Association analysis of polymorphisms in IL-3, IL-4, IL-5, IL-9, and IL-13 with Graves’ disease. J Endocrinol Invest. 2010;33:751-755.
  7. Liu N, Li X, Liu C, Zhao Y, Cui B, Ning G. The association of interleukin-1alpha and interleukin-1beta polymorphisms with the risk of Graves’ disease in a case-control study and meta-analysis. HumImmunol. 2010;71:397-401.
  8. Liu YH, Chen CC, Liao LL, Wan L, Tsai CH, Tsai FJ. Association of IL12B polymorphisms with susceptibility to Graves ophthalmopathy in a Taiwan Chinese population. J Biomed Sci. 2012;19:97.
  9. Bednarczuk T, Hiromatsu Y, Seki N, Ploski R, Fukutani T, Kurylowicz A, Jazdzewski K, Chojnowski K, Itoh K, Nauman J. Association of tumor necrosis factor and human leukocyte antigen DRB1 alleles with Graves’ ophthalmopathy. Hum Immunol. 2004;65:632-639.
  10. Niyazoglu M, Baykara O, Koc A, Aydoğdu P, Onaran I, Dellal FD, Tasan E, Sultuybek GK. Association of PARP-1, NF-κB, NF-κBIA and IL-6, IL-1β and TNF-α with Graves Disease and Graves Ophthalmopathy. Gene. 2014;547(2):226-232.
  11. Du P, Ma X, Wang C. Associations of CTLA4 Gene Polymorphisms with Graves’ Ophthalmopathy: A Meta-Analysis. Int J Genomics. 2014;2014:537969.
  12. Vaidya B, Imrie H, Perros P, Dickinson J, McCarthy MI, Kendall-Taylor P, Pearce SH. Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy. Lancet. 1999;354:743-744.
  13. Zhang Q, Yang YM, Lv XY. Association of Graves’ disease and Graves’ ophthalmopathy with the polymorphisms in promoter and exon 1 of cytotoxic T lymphocyte associated antigen-4 gene. J Zhejiang UnivSci B. 2006;7(11):887-891.
  14. Esteghamati A, Khalilzadeh O, Mobarra Z, Anvari M, Tahvildari M, Amiri HM, Rashidi A, Solgi G, Parivar K, Nikbin B, Amirzargar A. Association of CTLA-4 gene polymorphism with Graves’ disease and ophthalmopathy in Iranian patients. Eur JIntern Med. 2009;20(4):424-428.
  15. Frydecka I, Daroszewski J, Suwalska K, Zoledziowska M, Tutak A, Slowik M, Potoczek S, Dobosz T. CTLA4 (CD152) gene polymorphism at position 49 in exon 1 in Graves’ disease in a Polish population of the Lower Silesian region. Arch ImmunolTher Exp. (Warsz) 2004;52:369-374.
  16. Buzzetti R, Nistico L, Signore A, Cascino I. CTLA-4 and HLA gene susceptibility to thyroid-associated orbitopathy. Lancet. 1999;354:1824.
  17. Han SZ, Zhang SH, Li R, Zhang WY, Li Y. The common -318C/T polymorphism in the promoter region of CTLA4 gene is associated with reduced risk of ophthalmopathy in Chinese Graves’ patients. Int J Immunogenet. 2006;33:281-287.
  18. Allahabadia A, Heward JM, Nithiyananthan R, Gibson SM, Reuser TT, Dodson PM, Franklyn JA, Gough SCL. MHC class II region, CTLA-4 gene, and ophthalmopathy in patients with Graves’ disease. Lancet. 2001;358(9286):984-985.
  19. Bednarczuk T, Hiromatsu Y, Fukutani T, Jazdzewski K, Miskiewicz P, Osikowska M, Nauman J. Association of cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene polymorphism and non-genetic factors with Graves’ ophthalmopathy in European and Japanese populations. Eur J Endocrinol. 2003;148:13-18.
  20. Han S, Zhang S, Zhang W, Li R, Li Y, Wang Z, Xie Y, Mao Y. CTLA4 polymorphisms and ophthalmopathy in Graves’ disease patients: association study and meta-analysis. Hum Immunol. 2006;67:618-626.
  21. Park YJ, Chung HK, Park DJ, Kim WB, Kim SW, Koh JJ, Cho BY. Polymorphism in the promoter and exon 1 of the cytotoxic T lymphocyte antigen4 gene associated with autoimmune thyroid disease in Koreans. Thyroid. 2000;10:453-459.
  22. Villanueva R, Inzerillo AM, Tomer Y, Barbesino G, Meltzer M, Concepcion ES, Greenberg DA, MacLaren N, Sun ZS, Zhang DM, Tucci S, Davies TF. Limited genetic susceptibility to severe Graves’ ophthalmopathy: no role for CTLA-4 but evidence for an environmental etiology. Thyroid. 2000;10:791-798.
  23. Zaletel K, Krhin B, Gaberscek S, Pirnat E, Hojker S. The influence of the exon 1 polymorphism of the cytotoxic T lymphocyte antigen 4 gene on thyroid antibody production in patients with newly diagnosed Graves’ disease. Thyroid. 2002;12:373-376.
  24. Anvari M, Khalilzadeh O, Esteghamati A, Esfahani SA, Rashidi A, Etemadi A, Mahmoudi M, Amirzargar AA. Genetic susceptibility to Graves’ ophthalmopathy: the role of polymorphisms in proinflammatory cytokine genes. Eye (Lond). 2010;24(6): 1058-1063.
  25. Kamizono S, Hiromatsu Y, Seki N, Bednarczuk T, Matsumoto H, Kimura A et al. A polymorphism of the 5’flanking region of tumour necrosis factor alpha gene is associated with thyroid-associated ophthalmopathy in Japanese. Clin Endocrinol (Oxf). 2000;52:759-764.
  26. Yan SL, Wang YX. The relevance of tumor necrosis factoralphagene-863C/A polymorphism with thyroid-associated ophthalmopathy. Zhonghua Yan. Ke. Za. Zhi. 2005;41:786-790.

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