Molecular analysis of TNFAIP3, PTPN22, IRF5, and IL-10 gene polymorphisms in palindromic rheumatism

Palindromic rheumatism (PR) is characterized by frequent and irregular attacks of pain and swelling in the joints and peri-articular structures. In this study, we investigated TNFAIP3, PTPN22, IRF5, and IL-10 genes' single-nucleotide polymorphisms (SNPs) in patients with PR.

In a cross-sectional study, patients with a diagnosis of PR and two control groups, including rheumatoid arthritis (RA) patients and healthy controls (HCs), were recruited. All participants were Azeri. The TNFAIP3 (rs2230926, rs5029937), PTPN22 (rs1217407, rs1217413), IRF5 (rs10954213, rs2004640), and IL-10 (rs1800872, rs1800896) gene SNPs were genotyped.

Eight SNPs were genotyped in 25 PR patients, 41 RA patients, and 40 HCs. The TT genotype of TNFAIP3 rs2230926 and GG genotype of IL10 rs1800872 polymorphisms were less common in the PR group compared to the RA and HC groups. The C allele of TNFAIP3 rs2230926 polymorphism was more common in the PR group compared to the RA and HC groups. The TC genotype and C allele of IL10 rs1800896 and AG genotype of IRF5 rs10954213 polymorphisms were more common in the PR group compared to the HCs; however, there were no significant differences between the PR and RA groups. No significant difference was observed in the distribution of TNFAIP3 rs5025937, IRF5 rs2004640, PTPN22 rs1217413, and PTPN22 rs1217407 genotypes and alleles between the studied groups.

Carrying C allele of TNFAIP3 rs2230926, CC and TC genotypes and C allele of IL10 rs1800896, and AG genotype of IRF5 rs10954213 polymorphisms are associated with PR in the Azeri population. Key Points • The TT genotype of the TNFAIP3 rs2230926 polymorphism is less common in patients with palindromic rheumatism than in patients with rheumatoid arthritis and healthy individuals. • The GG genotype of the IL10 rs1800872 polymorphism is less common in patients with palindromic rheumatism than in patients with rheumatoid arthritis and healthy individuals. • The CC and TC genotypes, C allele of IL10 rs1800896, and AG genotype of IRF5 rs10954213 polymorphism are more common in patients with palindromic rheumatism than in healthy individuals, but there is no difference between patients with palindromic rheumatism and rheumatoid arthritis.