IL-1β rs1143623 associations with multiple sclerosis occurrence in Lithuania
Background. Multiple sclerosis (MS) is a chronic inflammatory autoimmune disease that damages the central nervous system (CNS). MS is the most common CNS disorder in young adults, with symptoms appearing between the ages of 20 and 40. Although the aetiology and pathogenesis of the disease are not precisely known, MS is a multifactorial disorder that depends on genetic and environmental factors. Leukocyte invasion of the CNS parenchyma and disruption of the blood-brain barrier integrity are hallmarks of multiple sclerosis. Lymphocytes and myeloid cells are key mediators of tissue damage, delivering cytokines and thereby inciting the inflammatory cascade. IL-1β is the primary mediator of the inflammatory process in the CNS and increases synaptic transmission which causes neuronal damage (Figure 1). However, the molecular mechanisms of inflammation-induced neurodegeneration are still largely unclear. Aim. The current study aimed to determine whether rs1143623 polymorphism of IL-1β confers susceptibility to MS in the Lithuanian population. Methods. Altogether, 500 patients were enrolled in the study (250 patients with MS and 250 healthy controls as a reference group). The 2017 diagnostic criteria, which included positive oligoclonal bands, typical demyelinating lesions found in brain/spinal cord MRI scans (per the MAGNIMS criteria), and clinical symptoms/relapse, have been used to confirm the results of MS assessments for the patients. Blood samples were collected, and the DNA salting-out method was used for DNA extraction from peripheral venous blood. Genotyping of IL-1β rs1143623 was performed using real-time polymerase chain reaction. Results. The analysis showed no statistically significant differences in the distribution of IL-1β rs1143623 genotypes and alleles between patients with MS and the reference group. The binary logistic regression analysis also revealed no statistically significant results. Conclusion. The IL-1β rs1143623 was not associated with MS occurrence in the Lithuanian population.