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Genome-wide polygenic analysis of multiple sclerosis markers

https://doi.org/10.14412/2074-2711-2021-1S-31-38

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Abstract

Objective: to perform a genome-wide polygenic analysis of multiple sclerosis (MS) markers in the ethnic groups of Bashkirs, Russians, and Tatars living in the Republic of Bashkortostan (Russian Federation).

Patients and methods. Genotyping was performed using allele-specific polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism analysis of genes of the human leukocyte differentiation antigens CD6 (rs17824933), CD40 (rs6074022), CD58 (rs2300747), CD86 (rs9282641), transcription factors SOX8 (rs2744148) and ZBTB46 (rs6062314), beta-mannosidase MANBA (rs228614), C-type lectin domain CLEC16A (rs12708716), ribosomal protein S6 kinase B1 RPS6KB1 (rs180515), and long noncoding RNA gene PVT1 (rs759648) in 644 patients with MS and 1408 controls. Multilocus analysis of the disease associations with combinations of genotypes and alleles of the studied polymorphic loci was performed using the APSampler algorithm.

Results and discussion. We determined the distribution of genotype and allele frequencies of the studied polymorphic loci in the ethnic groups of Bashkirs, Russians, and Tatars. We also observed disease associations with CD58 (rs2300747) and RPS6KB1 (rs180515) polymorphic loci in Russian men, CD86 (rs9282641) in Russian, PVT1 (rs759648) in Tatar women, CD40 (rs6074022) in Bashkir men, and identified 19 combinations of genotypes and/or alleles significantly associated with MS.

Conclusion. Based on the genome-wide polygenic analysis of MS markers, we identified ethno- and gender-specific combined markers of the disease susceptibility.

About the Authors

Ya. R. Timasheva
Ufa Federal Research Centre of the Russian Academy of Sciences; Bashkir State Medical University, Ministry of Health of Russia
Russian Federation

Yanina Rimovna Timasheva

Institute of Biochemistry and Genetics – autonomous structural subdivision

71, Oktyabrya prosp., Ufa 450054
3, Lenina St., Ufa 450008



T. R. Nasibullin
Ufa Federal Research Centre of the Russian Academy of Sciences
Russian Federation

Institute of Biochemistry and Genetics – autonomous structural subdivision

71, Oktyabrya prosp., Ufa 450054



I. A. Tuktarova
Ufa Federal Research Centre of the Russian Academy of Sciences
Russian Federation

Institute of Biochemistry and Genetics – autonomous structural subdivision

71, Oktyabrya prosp., Ufa 450054



V. V. Erdman
Ufa Federal Research Centre of the Russian Academy of Sciences
Russian Federation

Institute of Biochemistry and Genetics – autonomous structural subdivision

71, Oktyabrya prosp., Ufa 450054



T. R. Galiullin
Bashkir State Medical University, Ministry of Health of Russia
Russian Federation

3, Lenina St., Ufa 450008



O. V. Zaplakhova
Bashkir State Medical University, Ministry of Health of Russia
Russian Federation

3, Lenina St., Ufa 450008



K. Z. Bakhtiiarova
Bashkir State Medical University, Ministry of Health of Russia
Russian Federation

3, Lenina St., Ufa 450008



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Review

For citations:


Timasheva Y.R., Nasibullin T.R., Tuktarova I.A., Erdman V.V., Galiullin T.R., Zaplakhova O.V., Bakhtiiarova K.Z. Genome-wide polygenic analysis of multiple sclerosis markers. Neurology, Neuropsychiatry, Psychosomatics. 2021;13(1S):31-38. (In Russ.) https://doi.org/10.14412/2074-2711-2021-1S-31-38

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ISSN 2074-2711 (Print)
ISSN 2310-1342 (Online)