T.R. GALIULLIN¹, K.Z. BAKHTIYAROVA¹, O.V. ZAPLAKHOVA¹, N.F. UTYAGULOVA¹, A.M. MIKHAILOVA², I.A. TUKTAROVA², YA.R. TIMASHEVA^{1, 2}

¹Bashkir State Medical University, Ufa

²Institute of Biochemistry and Genetics of Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa

  Contact details:

 Galiullin T.R. — postgraduate student of the Department of Neurology

Address: 3 Lenin St., Russian Federation, Ufa, 450008 tel.: +7-962-547-41-07, e-mail: trgaliullin@mail.ru

The study objective was to analyze the results of 20 years of clinical follow-up and genetic study of 247 patients with multiple sclerosis (MS) registered at the Republican MS Centre.

Material and methods. The study comprised unrelated patients with a verified diagnosis of MS included in the register of the Republican MS Center, and age-, gender-, and ethnicity-matched controls. DNA was isolated from whole venous blood by phenol-chloroform extraction. Genotyping was performed by PCR and PCR-RFLP methods. Quantitative variables were assessed using the non-parametric Mann — Whitney test (U-test); the exact two-sided Fisher’s test was applied to compare the distribution of genotypes and alleles frequencies in the groups of patients and controls. Differences were considered statistically significant at p < 0,05.

Results. The group of 247 patients enrolled in the clinical genetic study in 2000 included 123 (49,8%) Russians, 98 (39,7%) Tatars, and 26 (10,5%) Bashkirs. The ratio of women to men was 2:1 (166:81). A polysymptomatic debut with a predominance of motor disorders was more often observed in the Bashkir group compared with others. At the time of inclusion in the study, the rate of progression in the Bashkir group was statistically significantly higher than in the Russian group, and non-significantly higher than in the Tatars group. Over a 20-year follow-up period, the rate of progression slowed in all groups. With the advent of magnetic resonance imaging in the region, the time to establish a verified diagnosis of MS has significantly decreased (p = 0,001). An increase in disability was not recorded during the observation period in 46 patients, 43 of them were taking disease modifying drugs. In a clinical genetic study, ethnospecific associations between MS and the polymorphismsin TNF and IL1B genes was revealed.

Conclusion. The findings of the study emphasize the need for the continued follow-up and more in-depth investigation of the regional characteristics of MS, course variants and risk factors for the development of the disease.

Key words: multiple sclerosis, prospective study, genetic predisposition, genetic polymorphism.

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