Volume 6, Issue 3 (Autumn 2018)                   Jorjani Biomed J 2018, 6(3): 40-47 | Back to browse issues page

XML Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Ghovanjzadeh S, Bazzazi H, Yazdani Y. Lack of Association between PTPN22 (+1858 C>T) rs2476601 polymorphism and susceptibility to rheumatoid arthritis (RA) in Northeast of Iran. Jorjani Biomed J. 2018; 6 (3) :40-47
URL: http://goums.ac.ir/jorjanijournal/article-1-622-en.html
1- Department of Biology, Gorgan Branch, Islamic Azad University, Gorgan, Iran
2- Department of Medical Laboratory Sciences, Gorgan Branch, Islamic Azad University, Gorgan, Iran , hadi.bazzazi@gmail.com
3- Infectious Diseases Research Center, Golestan University of Medical Sciences, Gorgan, Iran
Abstract:   (813 Views)
Background and objectives: Rheumatoid arthritis (RA) is an autoimmune disease with a complex genetic background. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a lymphoid specific protein tyrosine phosphatase which is involved in negative regulation of T cell response. Several studies have assessed the association between PTPN22 single nucleotide polymorphisms (SNPs) with RA susceptibility. Here, we aimed to assess the association of PTPN22 (1858 C>T) variant with the susceptibility to RA in northeast of Iran.
Methods: A total of 127 RA patients and 119 age- and sex- matched healthy donors were enrolled. The polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) technique (PCR-RFLP) was applied to detect PTPN22 (1858 C>T) SNP. SPSS 22.0 software was used to analyze data using relevant statistical tests.
Results: Comparison of allele and genotype frequencies of PTPN22 (1858 C>T) SNP in RA patients and healthy donors revealed no significant association with RA susceptibility.
Conclusion: The present study suggests that the PTPN22 (1858 C>T) genetic variants are not associated with RA susceptibility and disease activity. While this is the first report from northeast of Iran, further studies are needed to confirm these findings
Full-Text [PDF 339 kb]   (243 Downloads)    
Type of Article: Original article | Subject: Molecular Sciences
Received: 2018/08/15 | Revised: 2019/10/6 | Accepted: 2018/10/6

1. Aletaha D, Neogi T, Silman AJ, Funovits J, Felson DT, Bingham CO, et al. 2010 rheumatoid arthritis classification criteria: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Arthritis & Rheumatology. 2010;62(9):2569-81. [DOI:10.1002/art.27584]
2. Bazzazi H, Aghaei M, Memarian A, AsgarianOmran H, Behnampour N, Yazdani Y. Th1-Th17 Ratio as a New Insight in Rheumatoid Arthritis Disease. Iranian Journal of Allergy, Asthma and Immunology. 2018;17(1):68-77.
3. Lundkvist J, Kastäng F, Kobelt G. The burden of rheumatoid arthritis and access to treatment: health burden and costs. The European Journal of Health Economics. 2008;8(2):49-60. [DOI:10.1007/s10198-007-0088-8]
4. Kosinski M, Zhao SZ, Dedhiya S, Osterhaus JT, Ware Jr JE. Determining minimally important changes in generic and disease‐specific health‐related quality of life questionnaires in clinical trials of rheumatoid arthritis. Arthritis & Rheumatism: Official Journal of the American College of Rheumatology. 2000;43(7):1478-87. https://doi.org/10.1002/1529-0131(200007)43:7<1478::AID-ANR10>3.0.CO;2-M [DOI:10.1002/1529-0131(200007)43:73.0.CO;2-M]
5. MacGregor AJ, Snieder H, Rigby AS, Koskenvuo M, Kaprio J, Aho K, et al. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis & Rheumatology. 2000;43(1):30-7. https://doi.org/10.1002/1529-0131(200001)43:1<30::AID-ANR5>3.0.CO;2-B [DOI:10.1002/1529-0131(200001)43:13.0.CO;2-B]
6. Källberg H, Padyukov L, Plenge RM, Rönnelid J, Gregersen PK, van der Helm-van AH, et al. Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. The American Journal of Human Genetics. 2007;80(5):867-75. [DOI:10.1086/516736]
7. Flores-Borja F, Jury EC, Mauri C, Ehrenstein MR. Defects in CTLA-4 are associated with abnormal regulatory T cell function in rheumatoid arthritis. Proceedings of the National Academy of Sciences. 2008;105(49):19396-401. [DOI:10.1073/pnas.0806855105]
8. Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, et al. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. New England Journal of Medicine. 2007;357(10):977-86. [DOI:10.1056/NEJMoa073003]
9. Lee YH, Rho YH, Choi SJ, Ji JD, Song GG. PADI4 polymorphisms and rheumatoid arthritis susceptibility: a meta-analysis. Rheumatology international. 2007;27(9):827-33. [DOI:10.1007/s00296-007-0320-y]
10. Brennan FM, McInnes IB. Evidence that cytokines play a role in rheumatoid arthritis. The Journal of clinical investigation. 2008;118(11):3537-45. [DOI:10.1172/JCI36389]
11. Kokkonen H, Söderström I, Rocklöv J, Hallmans G, Lejon K, Rantapää Dahlqvist S. Up‐regulation of cytokines and chemokines predates the onset of rheumatoid arthritis. Arthritis & Rheumatology. 2010;62(2):383-91. [DOI:10.1002/art.27186]
12. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. The American Journal of Human Genetics. 2004;75(2):330-7. [DOI:10.1086/422827]
13. Potter C, Hyrich K, Tracey A, Lunt M, Plant D, Symmons D, et al. Association of rheumatoid factor and anti-cyclic citrullinated peptide positivity, but not carriage of shared epitope or PTPN22 susceptibility variants, with anti-tumour necrosis factor response in rheumatoid arthritis. Annals of the rheumatic diseases. 2009;68(1):69- 74. [DOI:10.1136/ard.2007.084715]
14. PP R. Human experimentation. Code of ethics of the world medical association. Declaration of Helsinki. British medical journal. 1964;2(5402):177-. [DOI:10.1136/bmj.2.5402.177]
15. Mohammadi S, Saghaeian-Jazi M, Sedighi S, Memarian A. Immunomodulation in systemic lupus erythematosus: induction of M2 population in monocyte-derived macrophages by pioglitazone. Lupus. 2017;26(12):1318-27. [DOI:10.1177/0961203317701842]
16. Padyukov L, Silva C, Stolt P, Alfredsson L, Klareskog L. A gene-environment interaction between smoking and shared epitope genes in HLA-DR provides a high risk of seropositive rheumatoid arthritis. Arthritis & Rheumatology. 2004;50(10):3085-92. [DOI:10.1002/art.20553]
17. Abbasi Z, Nezhad SRK, Pourmahdi-Broojeni M, Rajaei E. Association of PTPN22 rs2476601 Polymorphism with Rheumatoid Arthritis and Celiac Disease in Khuzestan Province, Southwestern Iran. Iranian biomedical journal. 2017;21(1):61. [DOI:10.18869/acadpub.ibj.21.1.61]
18. Ahmadloo S, Taghizadeh M, Akhiani M, Salimzadeh A, Keramatipour M. Single Nucleotide Polymorphism rs 2476601 of PTPN22 Gene and Susceptibility to Rheumatoid Arthritis in Iranian Population. Iranian Journal of Allergy, Asthma and Immunology. 2015;14(4):437.
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. International journal of immunogenetics. 2013;40(4):299-305. [DOI:10.1111/iji.12038]
20. Wesoly J, van der Helm‐van Mil A, Toes R, Chokkalingam A, Carlton V, Begovich A, et al. Association of the PTPN22 C1858T single‐nucleotide polymorphism with rheumatoid arthritis phenotypes in an inception cohort. Arthritis & Rheumatology. 2005;52(9):2948-50. [DOI:10.1002/art.21294]
21. Chung SA, Criswell LA. PTPN22: its role in SLE and autoimmunity. Autoimmunity. 2007;40(8):582-90. [DOI:10.1080/08916930701510848]
22. Heward JM, Brand OJ, Barrett JC, Carr-Smith JD, Franklyn JA, Gough SC. Association of PTPN22 haplotypes with Graves' disease. The Journal of Clinical Endocrinology & Metabolism. 2006;92(2):685-90. [DOI:10.1210/jc.2006-2064]
23. Goulielmos G, Chiaroni-Clarke R, Dimopoulou D, Zervou M, Trachana M, Pratsidou-Gertsi P, et al. Association of juvenile idiopathic arthritis with PTPN22 rs2476601 is specific to females in a Greek population. Pediatric Rheumatology. 2016;14(1):25. [DOI:10.1186/s12969-016-0087-3]
24. Lie BA, Viken MK, Ødegård S, van der Heijde D, Landewé R, Uhlig T, et al. Associations between the PTPN22 1858C→ T polymorphism and radiographic joint destruction in patients with rheumatoid arthritis: results from a 10-year longitudinal study. Annals of the rheumatic diseases. 2007;66(12):1604-9. [DOI:10.1136/ard.2006.067892]
25. Mastana S, Gilmour A, Ghelani A, Smith H, Samanta A. Association of PTPN22 with rheumatoid arthritis among South Asians in the UK. The Journal of rheumatology. 2007;34(10):1984-6.
26. Chabchoub G, Teixiera EP, Maalej A, Hamad MB, Bahloul Z, Cornelis F, et al. The R620W polymorphism of the protein tyrosine phosphatase 22 gene in autoimmune thyroid diseases and rheumatoid arthritis in the Tunisian population. Annals of human biology. 2009;36(3):342-9. [DOI:10.1080/03014460902817968]

Add your comments about this article : Your username or Email:

Send email to the article author

© 2020 All Rights Reserved | Jorjani Biomedicine Journal

Designed & Developed by : Yektaweb