E.E. ARBUZOVA, N.V. SELYANINA

 Perm State Medical University named after Academician E.A. Wagner of the Ministry of Healthcare of the Russian Federation, Perm

 Contact details:

Arbuzova E.E. — Assistant at the Department of Neurology and Medical Genetics

Address: 26 Petropavlovskaya St., Perm, Russian Federation, 614000, tel.: +7-912-986-19-08, e-mail: elenaarbuzova@hotmail.com 

It is known that autoimmune processes associated with genetic features play an important role in the pathogenesis of multiple sclerosis (MS). Besides the influence of HLA complex gene polymorphisms, other genes which do not regulate immunity can also determine the risk of MS developing and progression. STARD13 gene and its single nucleotide polymorphism rs9527281 showed a positive effect of therapy in patients treated with Interferon-beta.

Purpose of the study was to find the associations of rs9527281 STARD13 with the severity of MS in patients in Perm Krai.

Materials and methods. The studied group included 206 patients with verified MS at the age of 18–70 years; control group was consisted of 80 apparently healthy individuals. Neurological status was assessed using the Kurtzke Functional Systems Scale, EDSS, Scripps, Arm-index and FSS questionnaire. The genetic study was performed by real-time PCR using the reagents of Thermo Fisher Scientific, Applied Biosystems, the USA. Statistical data processing was conducted using software packages Statistica 10.0, SNPstats.

Results. The study group was characterized by a moderate degree of disability and the rate of progression of MS. A significant prevalence of the G/T and T/T rs9527281 STARD13 genotypes in the group of healthy individuals was diagnosed. The effect of the G allele on the rate of progression of MS in the total sample and the effect of the T allele in the group of men were determined. The T allele is associated with a higher level of asthenia in the group of men. No other associations of genotypes and alleles with the severity of clinical manifestations of MS have been identified.

Key words: multiple sclerosis, clinical and genetic associations, single nucleotide polymorphism, STARD13.

(For citation: Arbuzova E.E., Selyanina N.V. Influence of single nucleotide polymorphism rs9527281 of STARD13 gene on the severity of clinical manifestations of multiple sclerosis. Practical Medicine. 2019. . Vol. 17, № 7, P. 55-59)

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