Molecular analysis of PTPN22 (Rs33996649, Rs1217418) 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 (Rs33996649, Rs1217418) 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, Rs33996649 and Rs1217418 polymorphisms were investigated using the tetra-ARMs PCR technique. Results: The difference in the frequency of Rs1217418 and Rs33996649 genotypes between the control group and the group of patients with RA, as well as the control group and the group of patients with palindromic rheumatism, was not significant. Examining the Hardy-Weinberg equilibrium of Rs1217418 and Rs33996649 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 not significant and the population was in balance.