[Associations of single nucleotide polymorphisms of KIF1B gene with the severity of clinical manifestations of multiple sclerosis]. / Assotsiatsii odnonukleotidnykh polimorfizmov gena KIF1B s vyrazhennost'iu klinicheskikh proiavlenii rasseiannogo skleroza.

BACKGROUND: Multiple sclerosis (MS) is one of the most common neurological diseases, which development and features depend on various factors, including genetic ones. AIM: To identify associations of single nucleotide polymorphisms rs10492972 and rs117525287 of the KIF1B gene with the development and severity of clinical manifestations of MS patients in the Perm krai. MATERIAL AND METHODS: The study group consisted of 197 patients with MS, the control group included 80 healthy volunteers. Clinical characteristics were assessed by DDS, EDSS, SCRIPPS, FSS and Arm-index. A genetic study was carried out by real-time polymerase chain reaction using a CFX96 detection amplifier (Biorad, USA) and the CFX Manager 2.1 software package (Biorad, USA). RESULTS AND CONCLUSION: The study group was characterized by a moderate degree of disability: EDSS 4 [3; 6], SCRIPPS 62 [50; 79] points and moderate progression rate 0.42 [0,28; 0,67] points /year. A significant prevalence of the heterozygous genotype T/C (rs10492972) in the group of healthy people was established. The influence of the dominant T allele of rs10492972 on the severity of clinical manifestations on EDSS and SCRIPPS was found. No associations of the polymorphisms with the clinical parameters assessed by EDSS, SCRIPPS, FSS and Arm-index, as well as with the rate of disease progression were obtained. Significant differences in the frequencies of rs10492972 genotypes in groups of MS patients and healthy people were identified; their effect on the severity of MS was not determined.