Association of RAGE rs1800624 and rs1800625 gene polymorphisms with predisposition to optic neuritis and optic neuritis together with multiple sclerosis

Abstract

ABSTRACT Optic neuritis (ON) is demyelinating acute inflammatory disease which affects the optic nerve. ON is classified as a typical (demyelinating) or an atypical (idiopathic). Patients often complain having a periocular pain or a visual loss. The main factor causing the optic neuritis is still unknown. It is believed 10 that it might be a combination of genetic and environmental factors. As the optic neuritis is an inflammation disease, the RAGE gene was selected as it is a part of the inflammation process. Aim: to determine the relation between RAGE rs1800624 and rs1800625 genotypes of patients who have a manifestation of optic neuritis and optic neuritis with multiple sclerosis together in Lithuanian popula tion and visual acuity recovery. 15 Objectives: patients with optic neuritis and healthy controls individuals were examined. Genotyping was carried out by using the instrument of real-time polymerase chain reaction called StepOnePlus (AppliedBiosystems). Statistical analysis was performed using IBM SPSS Statistics 20.0 software and free PLINK software (version 1.07). Results: Results indicate that rs1800624 polymorphism is not statistically significant in optic neuritis 20 manifestation (p = .392), while rs1800625 GG genotype is associated with 7.5-fold increased odds of ON development under the codominant model (OR = 7.5; 95% CI:1.796–31.313; p = .006) and with 6.9-fold increased odds under the recessive model OR = 6.862; 95% CI:1.665–28.288; p = .008); and each allele G is associated with 1.9-fold increased odds of ON development under the additive model (OR = 1.879; 95% CI:1.149–3.072; p = .012). The haplotype containing A-G alleles in rs1800624 and rs1800625 was statisti 25 cally significantly associated with increased risk for ON development (χ2 = 13.23; p < .001). Both polymorphisms do not have statistically significant importance in relation to visual acuity recovery. Conclusions: RAGE rs1800624 and rs1800625 do not have [...].