Gene, Cell and Tissue

Published by: Kowsar

Association Study of the PTPN22 Gene Polymorphisms with Systemic Lupus Erythematosus in Lorestan Province of Iran

Seyedeh Zahra Shahrokhi 1 , Seyed Reza Kazemi Nezhad 1 , * , Sharam Baharvand Ahmadi 2 and Mohammad Reza Akhoond 3
Authors Information
1 Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, IR Iran
2 Department of Internal Medicine, School of Medicine, Aja University of Medical Sciences, Tehran, IR Iran
3 Department of Statistics, Faculty of Mathematical Sciences and Computer, Shahid Chamran University of Ahvaz, Ahvaz, IR Iran
Article information
  • Gene, Cell and Tissue: July 2017, 4 (3); e12023
  • Published Online: July 31, 2017
  • Article Type: Research Article
  • Received: April 23, 2017
  • Revised: May 23, 2017
  • Accepted: June 28, 2017
  • DOI: 10.5812/gct.12023

To Cite: Shahrokhi S Z, Kazemi Nezhad S R, Baharvand Ahmadi S, Akhoond M R. Association Study of the PTPN22 Gene Polymorphisms with Systemic Lupus Erythematosus in Lorestan Province of Iran, Gene Cell Tissue. 2017 ; 4(3):e12023. doi: 10.5812/gct.12023.

Copyright © 2017, Gene, Cell and Tissue. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Background
2. Methods
3. Results
4. Discussion
  • 1. Moez P, Soliman E. Association of PTPN22 gene polymorphism and systemic lupus erythematosus in a cohort of Egyptian patients: impact on clinical and laboratory results. Rheumatol Int. 2012;32(9):2753-8. doi: 10.1007/s00296-011-2063-z. [PubMed: 21818561].
  • 2. Zhu H, Luo H, Yan M, Zuo X, Li QZ. Autoantigen Microarray for High-throughput Autoantibody Profiling in Systemic Lupus Erythematosus. Genomics Proteomics Bioinformatics. 2015;13(4):210-8. doi: 10.1016/j.gpb.2015.09.001. [PubMed: 26415621].
  • 3. Crispin JC, Liossis SN, Kis-Toth K, Lieberman LA, Kyttaris VC, Juang YT, et al. Pathogenesis of human systemic lupus erythematosus: recent advances. Trends Mol Med. 2010;16(2):47-57. doi: 10.1016/j.molmed.2009.12.005. [PubMed: 20138006].
  • 4. Pradhan V, Borse V, Ghosh K. PTPN22 gene polymorphisms in autoimmune diseases with special reference to systemic lupus erythematosus disease susceptibility. J Postgrad Med. 2010;56(3):239-42. doi: 10.4103/0022-3859.68651. [PubMed: 20739780].
  • 5. Chung SA, Criswell LA. PTPN22: its role in SLE and autoimmunity. Autoimmunity. 2007;40(8):582-90. doi: 10.1080/08916930701510848. [PubMed: 18075792].
  • 6. Chen Z, Zhang H, Xia B, Wang P, Jiang T, Song M, et al. Association of PTPN22 gene (rs2488457) polymorphism with ulcerative colitis and high levels of PTPN22 mRNA in ulcerative colitis. Int J Colorectal Dis. 2013;28(10):1351-8. doi: 10.1007/s00384-013-1671-3. [PubMed: 23456301].
  • 7. Gregersen PK, Olsson LM. Recent advances in the genetics of autoimmune disease. Annu Rev Immunol. 2009;27:363-91. doi: 10.1146/annurev.immunol.021908.132653. [PubMed: 19302045].
  • 8. Abbasi Z, Kazemi Nezhad SR, Pourmahdi-Broojeni M, Rajaei E. Association of PTPN22 rs2476601 Polymorphism with Rheumatoid Arthritis and Celiac Disease in Khuzestan Province, Southwestern Iran. Iran Biomed J. 2017;21(1):61-6. doi: 10.18869/acadpub.ibj.21.1.61. [PubMed: 27215233].
  • 9. Kouhpayeh HR, Hashemi M, Hashemi SA, Moazeni-Roodi A, Naderi M, Sharifi-Mood B, et al. R620W functional polymorphism of protein tyrosine phosphatase non-receptor type 22 is not associated with pulmonary tuberculosis in Zahedan, southeast Iran. Genet Mol Res. 2012;11(2):1075-81. doi: 10.4238/2012.April.27.6. [PubMed: 22614276].
  • 10. Mak A, Kow NY. The pathology of T cells in systemic lupus erythematosus. J Immunol Res. 2014;2014:419029. doi: 10.1155/2014/419029. [PubMed: 24864268].
  • 11. Burn GL, Svensson L, Sanchez-Blanco C, Saini M, Cope AP. Why is PTPN22 a good candidate susceptibility gene for autoimmune disease?. FEBS Lett. 2011;585(23):3689-98. doi: 10.1016/j.febslet.2011.04.032. [PubMed: 21515266].
  • 12. Cho JH, Feldman M. Heterogeneity of autoimmune diseases: pathophysiologic insights from genetics and implications for new therapies. Nat Med. 2015;21(7):730-8. doi: 10.1038/nm.3897. [PubMed: 26121193].
  • 13. Machado-Contreras JR, Munoz-Valle JF, Cruz A, Salazar-Camarena DC, Marin-Rosales M, Palafox-Sanchez CA. Distribution of PTPN22 polymorphisms in SLE from western Mexico: correlation with mRNA expression and disease activity. Clin Exp Med. 2016;16(3):399-406. doi: 10.1007/s10238-015-0359-0. [PubMed: 26013387].
  • 14. Liu F, Liu J, Zheng TS, Li Q, Wang C, Pan XP, et al. The -1123G>C variant of PTPN22 gene promoter is associated with latent autoimmune diabetes in adult Chinese Hans. Cell Biochem Biophys. 2012;62(2):273-9. doi: 10.1007/s12013-011-9291-4. [PubMed: 21956362].
  • 15. Shahvali Koohshori M, Kazemi Nezhad SR, Rajaei E, Akhoond MR. Association of the MTHFR C677T polymorphism (rs1801133) with risk of rheumatoid arthritis in the Khuzestan Province of Iran. Gene Cell Tissue. 2015;2(4). doi: 10.17795/gct-28421.
  • 16. Stanford SM, Mustelin TM, Bottini N. Lymphoid tyrosine phosphatase and autoimmunity: human genetics rediscovers tyrosine phosphatases. Semin Immunopathol. 2010;32(2):127-36. doi: 10.1007/s00281-010-0201-4. [PubMed: 20204370].
  • 17. Fousteri G, Liossis SN, Battaglia M. Roles of the protein tyrosine phosphatase PTPN22 in immunity and autoimmunity. Clin Immunol. 2013;149(3):556-65. doi: 10.1016/j.clim.2013.10.006. [PubMed: 24269925].
  • 18. Ikari K, Momohara S, Inoue E, Tomatsu T, Hara M, Yamanaka H, et al. Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population. Rheumatology (Oxford). 2006;45(11):1345-8. doi: 10.1093/rheumatology/kel169. [PubMed: 16690758].
  • 19. Hashemi M, Atabaki M, Daneshvar H, Zakeri Z, Eskandari-Nasab E. Association of PTPN22 rs2476601 and EGFR rs17337023 Gene polymorphisms and rheumatoid arthritis in Zahedan, Southeast Iran. Int J Immunogenet. 2013;40(4):299-305. doi: 10.1111/iji.12038. [PubMed: 23350658].
  • 20. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet. 2004;75(3):504-7. doi: 10.1086/423790. [PubMed: 15273934].
  • 21. Orozco G, Sanchez E, Gonzalez-Gay MA, Lopez-Nevot MA, Torres B, Caliz R, et al. Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum. 2005;52(1):219-24. doi: 10.1002/art.20771. [PubMed: 15641066].
  • 22. Reddy MV, Johansson M, Sturfelt G, Jonsen A, Gunnarsson I, Svenungsson E, et al. The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. Genes Immun. 2005;6(8):658-62. doi: 10.1038/sj.gene.6364252. [PubMed: 16052172].
  • 23. Wu H, Cantor RM, Graham DS, Lingren CM, Farwell L, Jager PL, et al. Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lupus erythematosus families: increased T allele frequency in systemic lupus erythematosus patients with autoimmune thyroid disease. Arthritis Rheum. 2005;52(8):2396-402. doi: 10.1002/art.21223. [PubMed: 16052563].
  • 24. Viken MK, Amundsen SS, Kvien TK, Boberg KM, Gilboe IM, Lilleby V, et al. Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes Immun. 2005;6(3):271-3. doi: 10.1038/sj.gene.6364178. [PubMed: 15759012].
  • 25. Aksoy R, Duman T, Keskin O, Duzgun N. No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus. Mol Biol Rep. 2011;38(8):5393-6. doi: 10.1007/s11033-011-0692-7. [PubMed: 21384170].
  • 26. Feng X, Li YZ, Zhang Y, Bao SM, Tong DW, Zhang SL, et al. Association of the PTPN22 gene (-1123G > C) polymorphism with rheumatoid arthritis in Chinese patients. Tissue Antigens. 2010;76(4):297-300. doi: 10.1111/j.1399-0039.2010.01521.x. [PubMed: 20604892].
  • 27. Kawasaki E, Awata T, Ikegami H, Kobayashi T, Maruyama T, Nakanishi K, et al. Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. Am J Med Genet A. 2006;140(6):586-93. doi: 10.1002/ajmg.a.31124. [PubMed: 16470599].
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