Assessment of protein tyrosine phosphatases number 22 polymorphism prevalence among rheumatoid arthritis patients: A study on Iranian patients

Salesi, Mansour; Boroujeni, Golshan Taghipour; Salehi, Mansoor; Karimzadeh, Hadi

Assessment of protein tyrosine phosphatases number 22 polymorphism prevalence among rheumatoid arthritis patients: A study on Iranian patients

Authors

¹ Division of Rheumatology, Isfahan University of Medical Sciences, Isfahan, Iran

² Division of Internal Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

³ Division of Genetics, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran

Abstract

Background: It has been proposed that Trp (620) allotype of protein tyrosine phosphatases number 22 (PTPN22) gene can intensify the susceptibility to rheumatoid arthritis (RA) and other autoimmune diseases. Thus, in this study, the prevalence of this polymorphism has been surveyed among RA patients compared with healthy persons. The samples were selected from Isfahan province (one of the most populated area of Iran).
Materials and Methods: In this study, 100 patients (case group) and 100 healthy persons (control group) were participated voluntarily. The case group was selected from people who had referred to the rheumatology clinic of AlZahra University Hospital to follow-up their treatment and change their drugs dosage. The control group members, who were living in Isfahan province, mutually had similar age with patients. On a total, 22% of the case group was male and 75% of the control group was female. DNA was extracted from the blood sample of all cases and controls and the PTPN22 single nucleotide polymorphism (SNP) C1858> T gene polymorphism were studied using the polymerase chain reaction-restriction fragment length polymorphism method.
Results: PTPN22 SNP C1858> T gene polymorphism was observed in 11 persons (11%) of the case group and 8 persons (8%) of the control group.
Conclusion: The results show that the difference was not statistically significant in Isfahan RA population (P = 0.47; OR = 1.42; 95% CI 0.55-3.69). Although, another study on Iranian population had shown that this polymorphism confers susceptibility to RA.

Keywords

References

1.	Kurkó J, Besenyei T, Laki J, Glant TT, Mikecz K, Szekanecz Z. Genetics of rheumatoid arthritis-A comprehensive review. Clin Rev Allergy Immunol 2013; Jan 5, [Epub ahead of print].
2.	Malaise O, von Frenckell C, Malaise MG. Genetic and environmental interactions on the development of rheumatoid arthritis. Rev Med Liege 2012;67:305-13.
3.	Song GG, Bae SC, Kim JH, Lee YH. The PTPN22 C1858T polymorphism and rheumatoid arthritis: A meta-analysis. Rheumatol Int 2013; [Epub ahead of print]
4.	Longo DL, Fauci AS, Kasper DL, Hauser SL, Jameson JL, Loscalzo J, et al. Disorders of the immune system and connective tissue. Harrison's Principles of Internal Medicine. 18 ^th ed. New York: McGraw-Hill; 2012.
5.	Totaro MC, Tolusso B, Napolioni V, Faustini F, Canestri S, Mannocci A, et al. PTPN22 1858C>T polymorphism distribution in Europe and association with rheumatoid arthritis: Case-control study and meta-analysis. PLoS One 2011;6:e24292.
6.	Majorczyk E, Jasek M, P³oski R, Wagner M, Kosior A, Pawlik A, et al. Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma. Eur J Hum Genet 2007;15:1043-8.
7.	Sahin N, Gunduz F, Inanc N, Direskeneli H, Saruhan-Direskeneli G. No association of PTPN22 gene polymorphism with rheumatoid arthritis in Turkey. Rheumatol Int 2009;30:81-3.
8.	Hinks A, Eyre S, Ke X, Barton A, Martin P, Flynn E, et al. Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis. Ann Rheum Dis 2010;69:1049-53.
9.	Balsa A, Del Amo J, Blanco F, Caliz R, Silva L, Sanmarti R, et al. Prediction of functional impairment and remission in rheumatoid arthritis patients by biochemical variables and genetic polymorphisms. Rheumatology (Oxford) 2010;49:458-66.
10.	Lee HS, Korman BD, Le JM, Kastner DL, Remmers EF, Gregersen PK, et al. Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations. Arthritis Rheum 2009;60:364-71.
11.	Pierer M, Kaltenhäuser S, Arnold S, Wahle M, Baerwald C, Häntzschel H, et al. Association of PTPN22 1858 single-nucleotide polymorphism with rheumatoid arthritis in a German cohort: Higher frequency of the risk allele in male compared to female patients. Arthritis Res Ther 2006;8:R75.
12.	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;76:297-300.
13.	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 Jan 27, [Epub ahead of print].
14.	Aksoy R, Duman T, Keskin O, Düzgün N. No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus erythematosus. Mol Biol Rep 2011;38:5393-6.
15.	Eliopoulos E, Zervou MI, Andreou A, Dimopoulou K, Cosmidis N, Voloudakis G, et al. Association of the PTPN22 R620W polymorphism with increased risk for SLE in the genetically homogeneous population of Crete. Lupus 2011;20:501-6.

Advanced Biomedical Research