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

Background: Theproteintyrosinephosphatasenon-receptor22( PTPN22 )geneencodesthelymphoidproteintyrosinephosphatase. Recentstudiesdemonstratedtheassociationbetweenthe+1858C> T,-1123G> Cvariantsof PTPN22 gene,anddifferentautoimmune diseases. The current study aimed at examining the association between the polymorphism of PTPN22 gene and systemic lupus erythematosus (SLE) in the Southwest of Iran. Methods: The current study included 120 patients with SLE and 120 healthy volunteers as a control group. Genomic DNA was extracted and the genotyping was performed based on the PCR-restriction fragment length polymorphism (PCR-RFLP) method. Results: Frequencyof 1858Tallele(P< 0.001,OR=0.44,95% CI=0.291to0.663)showedassociationandfrequencyof 1123Callele(P= 0.307, OR = 0.811, 95% CI = 0.543 to 1.212)showed no association with SLE in patients compared with the control group in the studied population. Conclusions: Statistical analysis showed no relationship among gender, genotype, and SLE risk. However, there was a significant relationship between age and the SLE risk (P = 0.006).

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