Molecular analysis of IRF5 (RS2004640 & RS10954213) gene polymorphisms in patients with palindromic rheumatism

Abstract

The etiology of palindromic rheumatism is still not fully understood, but genetic risk factors involved in the development of this disease have been identified. The aim of this study is the molecular analysis of IRF5 (RS2004640 & RS10954213) gene polymorphisms in patients with palindromic rheumatism. Materials and Methods: This research was a case-control study. In this study, the target population was patients with palindromic rheumatism referred to Imam Reza of Tabriz Hospital in 2022, whose disease was diagnosed by a rheumatology specialist based on diagnostic criteria. The sample size for the study groups, i.e. patients with rheumatoid arthritis, patients with palindromic rheumatism and the control group (without autoimmune disease) was calculated to be 40 people each. The sampling method was accessible. 5 cc of blood was taken from all the participants and the participants' DNA was extracted. Using the Tetra-ARMs PCR method, the sequence of IRF5 genes (RS2004640, RS10954213), which were selected by reviewing different studies, was investigated to identify the relationship of these SNPs in patients. In Tetra-ARMs PCR analysis, this technique with its full name (Tetra-primer Amplification refractory mutation system) which is also called mutation resistant system, is a PCR-based method to detect the presence of single nucleotide polymorphisms in the genome. The severity of the disease was evaluated based on the duration and frequency of attacks, and the outcome of the disease was evaluated based on the remission rate. Results: In this study, no statistically significant relationship was observed between the genotypes and alleles of Rs2004640 in the groups of control subjects, palindromic arthritis patients, and rheumatoid arthritis patients studied in pairs (P>0.05); On the other hand, among the genotypes and alleles of Rs10954213 in the groups of control subjects, the palindromic arthritis patients and the rheumatoid arthritis patients studied in pairs, there was only a statistically significant relationship between the genotypes of Rs10954213 in the two groups of control subjects and the palindromic arthritis patients studied (P=0.002). In total, no statistically significant relationship was observed between Rs2004640 (P=0.114) and Rs10954213 (P=0.120) genotypes in the three groups of control subjects, rheumatoid arthritis patients, and palindromic arthritis patients.