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Multiple sclerosis is a classic multifactorial disease in which etiology interaction of external factors and structural features of a large number of genes plays an important role. Identifying risk factors for multiple sclerosis and creating an integrated model of pathogenesis are urgent tasks of neurology. Revealing true risk factors is possible only in studies with sufficient statistical power, so with a large amount of samples. We conducted the association study of CD40 gene's polymorphisms and multiple sclerosis among residents of the Russian Federation. The results demonstrated the need to combine data from different researchers in clinical studies to increase the power of the study.

In order to study specific features of remitting multiple sclerosis patients with different genotypes of polymorphic loci rs1800629 gene TNFα, rs6074022 gene CD40, rs10492972 gene KIF1B, rs187238 IL-18 gene, conducted clinical and electrophysiological examination of 149 patients with relapsing-remitting multiple sclerosis. Found that the most common symptoms of rapidly progressive relapsing-remitting multiple sclerosis were cerebellar and sensory disorders. Severity of pyramidal and cerebellar, stem, pelvic disorders, and thus the value of EDSS score was significantly higher in the group of patients with recurrent exacerbations during the year. Intensity changes of latencies of peaks I, III of short-stem evoked potentials and central motor conduction time determined by the ball on a scale EDSS. Genotype C/C polymorphism rs187238 locus IL-18 gene associated with frequent exacerbations of relapsing-remitting multiple sclerosis, high speed of progression of the disease and is characterized by marked changes in latency of peak V ABR and VEP P100. With polymorphic locus allele rs187238 IL-18 is associated with more frequent exacerbations PPC (OR=1.714 (1.051-2.797); p=0.02), and increases the risk of rapidly progressive nature of the disease in a 2-fold (OR=2.040 (1.140-3.650) p=0.015).

To study the features of multiple sclerosis (MS) with child age-at-onset, we examined 254 patients with confirmed diagnosis of MS. The disease developed at the age younger than 16 years in 27 patients. A control group included 303 healthy volunteers. Correlations between the rate of disease progression and the age-at-onset were found. The more benign course of MS was noted in patients with earlier disease onset. There were more women and the disease frequently manifested with retrobulbar nephritis in the group with early onset. The results indicated that a G allele of -308G/A polymorphism of the TNF-α gene might be a risk factor for MS. The A allele may play a protective function. No association between -137G/C IL-18 polymorphism and MS was found. These polymorphisms did not contribute to the predisposition to early onset of MS.

Phagocyte activity and the interferon system was studied in 40 patients with multiple sclerosis (MS), including 22 patients with remitting MS type, 7 patients with primary progressive MS and 11 patients with secondary progressive MS. A control group included 15 healthy people. Changes in the parameters studied were found in all groups of patients. The most marked changes in the phagocyte section of immunity and in the interferon system were seen in patients with primary progressive and secondary progressive MS. The data obtained may be used in diagnosis and choice of treatment in MS patients.