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Timasheva Y.R.

Institute of Biochemistry and Genetics of Ufa Federal Research Centre;
Bashkir State Medical University

Nasibullin T.R.

Institute of Biochemistry and Genetics of Ufa Federal Research Centre

Tuktarova I.A.

Institute of Biochemistry and Genetics of Ufa Federal Research Centre

Erdman V.V.

Institute of Biochemistry and Genetics of Ufa Federal Research Centre

Galiullin T.R.

Bashkir State Medical University

Lyutov O.V.

Bashkir State Medical University

Bakhtiyarova K.Z.

Bashkir State Medical University

Multiple sclerosis in the Republic of Bashkortostan: population-specific genetic predictors and the results of a 20-year clinical follow-up study

Authors:

Timasheva Y.R., Nasibullin T.R., Tuktarova I.A., Erdman V.V., Galiullin T.R., Lyutov O.V., Bakhtiyarova K.Z.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(7‑2): 34‑42

DOI: 10.17116/jnevro202312307234

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Table of contents

MULTIPLE SCLEROSIS IN THE REPUBLIC OF BASHKORTOSTAN: POPULATION-SPECIFIC GENETIC PREDICTORS AND THE RESULTS OF A 20-YEAR CLINICAL FOLLOW-UP STUDY
MULTIPLE SCLEROSIS IN THE REPUBLIC OF BASHKORTOSTAN: POPULATION-SPECIFIC GENETIC PREDICTORS AND THE RESULTS OF A 20-YEAR CLINICAL FOLLOW-UP STUDY

To cite this article:

Timasheva YR, Nasibullin TR, Tuktarova IA, Erdman VV, Galiullin TR, Lyutov OV, Bakhtiyarova KZ. Multiple sclerosis in the Republic of Bashkortostan: population-specific genetic predictors and the results of a 20-year clinical follow-up study. S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(7‑2):34‑42. (In Russ.)
https://doi.org/10.17116/jnevro202312307234

Подписка 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry (special issues))
 
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OBJECTIVE

Identification of a complex of genetic predictors of multiple sclerosis (MS) based on previously obtained results in genome-wide association studies of disease markers (GWAS markers) in a population of MS patients and healthy individuals of the Republic of Bashkortostan (Russian Federation) using polygenic detection.

MATERIAL AND METHODS

The total study group consisted of 2048 people (641 patients with MS and 1407 healthy individuals) who permanently resided in the Republic of Bashkortostan and belonged to the Bashkir (n=325), Russian (n=772) or Tatar (n=951) nationalities. The analysis of association between MS and polymorphisms previously associated with the disease according to GWAS data was performed. Of the 641 MS patients, 247 were the subject of a 20-year prospective clinical follow-up.

RESULTS

The C6orf10 rs3129934*T allele was most significantly associated with MS in Russians (OR=2.00, P=5.85·10–5) and Tatars (OR=2.38, P=8.61·10–7). An increased MS risk in Russians was also associated with the EOMES rs11129295*T (OR=1.56, P=0.007) and IL7R rs1494558*I (OR=1.61, P=0.003) alleles. Meta-analysis confirmed the association of the C6orf10 rs3129934*T, EOMES rs11129295*T and IL7R rs1494558*I alleles with MS in the total group, as well as revealed associations of the INAVA rs7522462*G, IL7R rs10624573*I, CD6 rs17824933*G, GPC5 rs9523762*A and GPR65 rs2119704*C alleles with the disease. Using polygenic analysis, we identified a complex predictor C6orf10 rs3129934*C + INAVA rs7522462*G + CD6 rs17824933*C with a pronounced protective effect against MS in the total group (OR=0.34, PFDR=2.65·10–7).

CONCLUSION

We reproduced the association of eight polymorphisms (C6orf10 rs3129934, INAVA rs7522462, IL7R rs10624573, EOMES rs11129295, GPR65 rs2119704, GPC5 rs9523762, CD6 rs17824933 and CD58 rs2300747) with MS, previously identified in GWAS in European populations. Whole exome or genome sequencing may help to reveal the mechanisms underlying the pathogenesis of MS in populations of the Russian Federation.

Keywords:

multiple sclerosis
genome-wide association signals
human leukocyte antigen
major histocompatibility region

Authors:

Timasheva Y.R.

Institute of Biochemistry and Genetics of Ufa Federal Research Centre;
Bashkir State Medical University

Nasibullin T.R.

Institute of Biochemistry and Genetics of Ufa Federal Research Centre

Tuktarova I.A.

Institute of Biochemistry and Genetics of Ufa Federal Research Centre

Erdman V.V.

Institute of Biochemistry and Genetics of Ufa Federal Research Centre

Galiullin T.R.

Bashkir State Medical University

Lyutov O.V.

Bashkir State Medical University

Bakhtiyarova K.Z.

Bashkir State Medical University

Received:

24.05.2023

Accepted:

02.06.2023

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