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

UNLABELLED: 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 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 population and visual acuity recovery.

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 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 statistically 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 rs1800625 AA genotype decreases the risk of optic neuritis. The single nucleotide polymorphisms RAGE rs1800624 and rs1800625 do not have a statistically significant importance in relation with visual acuity recovery.