CCL2 Single Nucleotide Polymorphism Associations With Optic Neuritis and Multiple Sclerosis

Introduction Optic neuritis (ON) is an inflammation of the optic nerve that results in demyelination of the optic nerve and vision loss [1]. A typical ON form is often linked to multiple sclerosis (MS) [2]. MS is a chronic inflammatory disease of the CNS characterizes by axonal damage and demyelination [3]. Due to the demyelination processes in the brain which cause damage to axons, up to 80% patients with MS develop ON at any time during the disease [4]. Monocyte chemoattractant protein-1 (MCP-1/CCL2) is one of the main chemokines that regulates the migration and infiltration of monocytes and macrophages [5]. Migration of monocytes from the bloodstream across the vascular endothelium is required for normal immunological maintenance of tissues and regulation of inflammation [6]. Single nucleotide polymorphisms (SNPs) of the CCL2 gene are associated with Parkinson’s and age-related macular degeneration indicate an increased risk of developing neurodegenerative diseases [7,8]. For this reason, we investigated the associations of CCL2 SNPs with ON and MS. Aim To determine the association of CCL2 gene polymorphisms with the occurrence of optic neuritis and multiple sclerosis. Methods DNA was isolated by the salting out method from the venous blood of 30 patients with ON and MS and 174 healthy individuals. Genotyping of CCL2 (rs1024611, rs4586, rs2857656) was performed by real-time polymerase chain reaction (RT-PCR). Statistical data analysis was carried out using "The IBM SPSS Statistics 29.0.2.0" program. Results The distribution of genotypes and alleles of CCL2 polymorphisms in ON with MS and control groups showed no statistically significant results (p>0.05). Binary logistic regression analysis of CCL2 polymorphisms was performed in ON patients with MS and control groups. We discovered that the CC genotype compared with the TT and CT genotypes of the CCL2 rs4586 polymorphism was associated with a 3.4-fold increased odds of ON with MS occurrence (OR=3.375; 95% CI 1.158–9.836; p=0.026). Conclusions We found that CC genotype of CCL2 rs4586, compared to the TT and CC genotypes, increases the possibility of ON with MS by 3.4 times.