Molecular analysis of PTPN22 (Rs1217413, Rs1217407) gene polymorphisms in patients with palindromic rheumatism

Abstract

Palindromic rheumatism, a unique clinical condition, has a distinct clinical presentation with a relapsing/remitting period. Most patients with palindromic rheumatism have been shown to develop chronic disease, with rheumatoid arthritis (RA) being by far the most common. Non-receptor protein tyrosine phosphatase type 22 (PTPN22) is one of the genes encoding protein tyrosine phosphatase that plays a role in regulating the immune response. The present study was conducted with the aim of investigating PTPN22 gene polymorphisms (Rs1217413, Rs1217407) in patients with palindromic rheumatism and RA patients. Method: The total volume of the studied sample is 120 people. These people were selected from among the patients referred to the hospital who had palindromic rheumatism disease diagnosed by a rheumatology specialist based on diagnostic criteria, and 40 patients with rheumatoid arthritis and 40 control group without autoimmune disease were selected. After blood sampling and RNA extraction, Rs1217413 and Rs1217407 polymorphisms were investigated using the tetra-ARMs PCR technique. Results: The results of our study showed that the difference in the frequency of Rs1217407 and Rs1217413 genotypes including GG, AG and AA between the control groups and the group of patients with RA, as well as the control group and the group of patients with palindromic rheumatism was not significant. Hardy-Weinberg equilibrium analysis of Rs1217407 and Rs1217413 for GG, AG and AA genotypes for palindromic patients showed that the difference observed for the observed and expected genotypes between the two groups was significant and the population was out of balance, but for the genotype The observed and expected values of both positions between the two control groups and patients with RA are not significant and the population is balanced. Also, in the comparison between palindromic rheumatism and RA groups, the results showed that GG Rs1217407 genotype increases the risk of arthritis compared to palindromic.