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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

Zaplakhova O.V.

G.G. Kuvatov Republic Clinical Hospital

Bakhtiyarova K.Z.

Bashkir State Medical University

Mustafina O.E.

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

The analysis of association between multiple sclerosis and genetic markers identified in genome-wide association studies

Authors:

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

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2020;120(7‑2): 54‑60

DOI: 10.17116/jnevro202012007254

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Table of contents

THE ANALYSIS OF ASSOCIATION BETWEEN MULTIPLE SCLEROSIS AND GENETIC MARKERS IDENTIFIED IN GENOME-WIDE ASSOCIATION STUDIES
THE ANALYSIS OF ASSOCIATION BETWEEN MULTIPLE SCLEROSIS AND GENETIC MARKERS IDENTIFIED IN GENOME-WIDE ASSOCIATION STUDIES

To cite this article:

Timasheva YR, Nasibullin TR, Tuktarova IA, et al. The analysis of association between multiple sclerosis and genetic markers identified in genome-wide association studies. S.S. Korsakov Journal of Neurology and Psychiatry. 2020;120(7‑2):54‑60. (In Russ.)
https://doi.org/10.17116/jnevro202012007254

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова. Спецвыпуски (S.S. Korsakov Journal of Neurology and Psychiatry (special issues))
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Abstract:

OBJECTIVE

Our aim was to analyse the association with multiple sclerosis of the genetic markers of autoimmune disorders identified in genome-wide association studies in ethnically homogenous groups of Russians and Tatars residing in the Republic of Bashkortostan.

MATERIAL AND METHODS

We performed genotyping of the genetic variants rs2069762 in IL2 gene, rs759648 in PVT1 gene, rs1800682 in FAS gene and rs12708716 in CLEC16A gene in the study group consisting of 1724 people (547 patients with multiple sclerosis, 1177 representatives of the control group). We analysed the association of the studied genetic markers with multiple sclerosis using logistic regression under additive genetic model implemented in PLINK program with sex a covariate.

RESULTS

In the group of Tatars, we detected an association of PVT1 rs759648*Callele with multiple sclerosis (OR=1.42, p=0,023). Meta-analysis of the study results in the two ethnic groups we confirmed the association of the PVT1 rs759648*C allele with the disease (random effects model and fixed effect model: OR=1.29, p=0,018).

CONCLUSION

Our results provide an evidence of an association between multiple sclerosis and the PVT1 rs759648 allele in the populations of Russian and Tatars from the Republic of Bashkortostan. No association with any other studied polymorphic variant was found in the two ethnic groups.

Keywords:

multiple sclerosis
gene polymorphism
analysis of association
genome-wide association studies

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

Zaplakhova O.V.

G.G. Kuvatov Republic Clinical Hospital

Bakhtiyarova K.Z.

Bashkir State Medical University

Mustafina O.E.

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

Received:

02.04.2020

Accepted:

07.04.2020

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References:

  1. Harbo HF, Gold R, Tintoré M. Sex and gender issues in multiple sclerosis. Ther Adv Neurol Disord. 2013;6(4):237-248.  https://doi.org/10.1177/1756285613488434
  2. Browne P, Chandraratna D, Angood C, et al. Atlas of multiple sclerosis 2013: A growing global problem with widespread inequity. Neurology. 2014;83(11):1022-1024. https://doi.org/10.1212/Wnl.0000000000000768
  3. Bakhtiiarova KZ, Goncharova ZA. Multiple sclerosis in the Bashkortostan Republic and the Rostov region: a comparative epidemiologic study. Zhurnal Nevrologii i Psihiatrii im. S.S. Korsakova. 2014;114(2 Pt 2):5-9. (In Russ.).
  4. Friese MA, Schattling B, Fugger L. Mechanisms of neurodegeneration and axonal dysfunction in multiple sclerosis. Nature Reviews Neurology. 2014;10(4):225-238.  https://doi.org/10.1038/nrneurol.2014.37
  5. Bashinskaya VV, Kulakova OG, Boyko AN, Favorov AV, Favorova OO. A review of genome-wide association studies for multiple sclerosis: classical and hypothesis-driven approaches. Hum Genet. 2015;134(11):1143-1162. https://doi.org/10.1007/s00439-015-1601-2
  6. Favorova O, Bashinskaya V, Kulakova O, Favorov A, Boyko A. Genome-wide association study as a method to analyze the genome architecture in polygenic diseases, with the example of multiple sclerosis. Mol Biol. 2014;48(4):496-507.  https://doi.org/10.1134/S0026893314040037
  7. Thompson AJ, Banwell BL, Barkhof F, et al. Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria. The Lancet Neurology. 2018;17(2):162-173.  https://doi.org/10.1016/S1474-4422(17)30470-2
  8. Purcell S, Neale B, Todd-Brown K, et al. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559-575.  https://doi.org/10.1086/519795
  9. Beecham AH, Patsopoulos NA, Xifara DK, et al. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet. 2013;45(11):1353-1360. https://doi.org/10.1038/ng.2770
  10. Kotelnikova E, Kiani NA, Messinis D, et al. MAPK pathway and B cells overactivation in multiple sclerosis revealed by phosphoproteomics and genomic analysis. Proceedings of the National Academy of Sciences. 2019;116(19):9671. https://doi.org/10.1073/pnas.1818347116
  11. Ikram MA, Vernooij MW, Roshchupkin GV, et al. Genetic susceptibility to multiple sclerosis: Brain structure and cognitive function in the general population. Multiple Sclerosis Journal. 2016;23(13):1697-1706. https://doi.org/10.1177/1352458516682104
  12. Isobe N, Madireddy L, Khankhanian P, et al. An ImmunoChip study of multiple sclerosis risk in African Americans. Brain. 2015;138(6):1518-1530. https://doi.org/10.1093/brain/awv078
  13. Sawcer S, Hellenthal G, Pirinen M, et al. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature. 2011;476(7359):214-219.  https://doi.org/10.1177/1352458513512707
  14. Takahashi Y, Sawada G, Kurashige J, et al. Amplification of PVT-1 is involved in poor prognosis via apoptosis inhibition in colorectal cancers. Br J Cancer. 2014;110(1):164-171.  https://doi.org/10.1038/bjc.2013.698
  15. Huppi K, Volfovsky N, Runfola T, et al. The Identification of MicroRNAs in a Genomically Unstable Region of Human Chromosome 8q24. Mol Cancer Res. 2008;6(2):212.  https://doi.org/10.1158/1541-7786.MCR-07-0105
  16. Conte F, Fiscon G, Chiara M, Colombo T, Farina L, Paci P. Role of the long non-coding RNA PVT1 in the dysregulation of the ceRNA-ceRNA network in human breast cancer. PLoS One. 2017;12(2); 56-61.  https://doi.org/10.1371/journal.pone.0171661
  17. Mohammed EM. Environmental Influencers, MicroRNA, and Multiple Sclerosis. Journal of Central Nervous System Disease. 2020;12:1179573519894955. https://doi.org/10.1177/1179573519894955
  18. Shtivelman E, Bishop JM. The PVT gene frequently amplifies with MYC in tumor cells. Mol Cell Biol. 1989;9(3):1148. https://doi.org/10.1128/MCB.9.3.1148
  19. Barsotti AM, Beckerman R, Laptenko O, Huppi K, Caplen NJ, Prives C. p53-Dependent induction of PVT1 and miR-1204. J Biol Chem. 2012;287(4):2509-2519. https://doi.org/10.1074/jbc.M111.322875
  20. Zhao J, Du P, Cui P, et al. LncRNA PVT1 promotes angiogenesis via activating the STAT3/VEGFA axis in gastric cancer. Oncogene. 2018;37(30):4094-4109. https://doi.org/10.1038/s41388-018-0250-z
  21. Plagnol V, Howson JM, Smyth DJ, et al. Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genet. 2011;7(8):e1002216. https://doi.org/10.1371/journal.pgen.1002216
  22. Ellinghaus D, Jostins L, Spain SL. Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. Nat. Genet. 2016;48(5):510-518.  https://doi.org/10.1038/ng.3528
  23. Todd JA, Walker NM, Cooper JD, et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet. 2007;39(7):857-864.  https://doi.org/10.1038/ng2068
  24. Barrett JC, Clayton DG, Concannon P, et al. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet. 2009;41(6):703-707.  https://doi.org/10.1038/ng.381
  25. Burton PR, Clayton DG, Cardon LR, et al. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447(7145):661-678.  https://doi.org/10.1038/nature05911
  26. Zhang YQ, Shen X, Xiao XL, et al. Mitochondrial uncoupler carbonyl cyanide m-chlorophenylhydrazone induces vasorelaxation without involving KATP channel activation in smooth muscle cells of arteries. Br J Pharmacol. 2016;173(21):3145-3158. https://doi.org/10.1111/bph.13578
  27. Mero I, Ban M, Lorentzen ÅR, et al. Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus. Genes Immun. 2011;12(3):191-198.  https://doi.org/10.1038/gene.2010.59
  28. Nasibullin T, Tuktarova I, Erdman V, et al. Associations of polymorphic DNA markers with multiple sclerosis in ethnic group of Bashkirs. Biomics. 2018;10(3):319-326.  https://doi.org/10.31301/2221-6197.bmcs.2018-40
  29. Hoffmann SC, Stanley EM, Darrin Cox E, et al. Association of cytokine polymorphic inheritance and in vitro cytokine production in anti-CD3/CD28-stimulated peripheral blood lymphocytes. Transplantation. 2001;72(8):1444-1450. https://doi.org/10.1097/00007890-200110270-00019
  30. Watanabe Y, Nunokawa A, Shibuya M, Kaneko N, Nawa H, Someya T. Association study of interleukin 2 (IL2) and IL4 with schizophrenia in a Japanese population. Eur Arch Psychiatry Clin Neurosci. 2008;258(7):422-427.  https://doi.org/10.1007/s00406-008-0813-z
  31. Timasheva YR, Zaplakhova OV, Nasibullin TR, et al. Association between Allelic Variants of IL2, IL2RA, and IL7R Genes and Multiple Sclerosis. journal article. Russian Journal of Genetics. 2019;55(4):487-494.  https://doi.org/10.1134/s1022795419030153
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