Background: The etiology of the inflammatory ON is multifactorial. Much attention is paid to the inflammatory and immune processes that are likely to contribute to the demyelination and MS development. IL-6, VEGFA, and TIMP-3 genes are thought to be involved in the inflammatory processes and manifestation of CNS demyelination, so we aimed to determine the relationship between VEGFA rs1413711, TIMP-3 rs9621532, IL-6 rs1800796 gene polymorphisms and ON, and ON with MS.
Materials and methods: Patients with ON, ON with MS, and a random sample of healthy population were enrolled. The genotyping of VEGFA rs1413711, TIMP-3 rs9621532, and IL-6 rs1800796 polymorphisms was carried out using the real-time polymerase chain reaction method.
Results: T/C and C/C genotypes of VEGFA rs1413711 were associated with about threefold increased odds of developing ON in the dominant and codominant models. Each allele C at VEGFA rs1413711 was associated with 1.7-fold increased odds of ON development. IL-6 rs1800796 allele C was more frequent in the ON with MS group compared to the control: 17.6% vs. 7.5%, respectively (p = .040). No statistically significant associations were found between TIMP-3 rs9621532 and the ON development.
Conclusion: vegfa: rs1413711 is associated with the ON development.
Keywords: IL-6; TIMP-3; VEGFA; Optic neuritis; multiple sclerosis.