AIF1 Gene RS2269475:C>T Polymorphism is Associated With Rheumatoid Arthritis Development but not With Disease Activity
Andrzej PAWLIK1, Violetta DZIEDZIEJKO2, Mateusz KURZAWSKI3, Krzysztof SAFRANOW2
1Department of Pharmacokinetics and Therapeutic Drug Monitoring, Pomeranian Medical University, Szczecin, Poland
2Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland
3Department of Experimental & Clinical Pharmacology, Pomeranian Medical University, Szczecin, Poland
Keywords: Allograft inflammatory factor-1, disease activity score in 28 joints, polymorphism, rheumatoid arthritis
Objectives: This study aims to examine whether the allograft inflammatory factor-1 (AIF1) gene rs2269475:C>T polymorphism is associated with rheumatoid arthritis (RA) susceptibility, and whether this polymorphism influences disease activity in patients with RA.
Patients and methods: We examined 380 patients (62 males, 318 females; mean age 58.1±12.9 years; range 20 to 78 years; age at disease onset 47.4±13.5 years) with RA diagnosed according to the criteria of American College of Rheumatology and 378 healthy control subjects (126 males, 252 females; mean age 69.6±12.1 years; range 21 to 75 years). Disease activity score in 28 joints (DAS28) was calculated. The active form of RA was diagnosed when DAS28 was >2.5, the non-active form was diagnosed when DAS28 was ≤2.5.
Results: The frequency of TT genotype was significantly higher in RA patients compared with the controls (TT vs. CT+CC: odds ratio=6.22, 95% confidence interval: 1.82-21.28; p=0.0013). The frequency of T allele was 18.55% among RA patients and 12.04% among healthy subjects (odds ratio=1.67, 95% confidence interval=1.25-2.21; p=0.00046). There were no statistically significant differences in distribution of genotypes and alleles between patients with active and non-active disease (DAS28 >2.5 and ≤2.5, respectively).
Conclusion: The results of present study suggest that AIF1 gene rs2269475 polymorphism is associated with RA development; however, has no influence on disease activity.
The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.
The study was sponsored by a grant from Polish Ministry of Science and Higher Education (no. NN 402 266 636).