Skip to main content
Log in

Characterization of 48 polymorphic loci as potential markers for the risk of ischemic stroke

  • Human Genetics
  • Published:
Russian Journal of Genetics Aims and scope Submit manuscript

Abstract

With the aim to determine specific genetic characteristics of the population of Moscow region, we determined allele frequencies of 48 polymorphic loci (SNP) associated with the increased risk of ischemic stroke development. The genotype frequency distribution for all the SNPs corresponds to Hardy–Weinberg equilibrium. Comparison of the allele frequencies with those obtained for Caucasian populations from the databases dbSNP and 1000 Genomes Project revealed significant differences for two SNPs (rs556621 and rs556512) and seven SNPs (rs556621, rs556512, rs1801133, rs1799983, rs5918, rs328, and rs2398162), respectively. The revealed genetic features of the population make it possible to increase the accuracy and reliability of the individual genetic risk assessment of development for multifactorial diseases in the examined population.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Mironov, K.O., Dunaeva, E.A., Dribnokhodova, O.P., et al., Detection of genetic polymorphisms using a system of genetic analysis based on PyroMark Q24 pyrosequencing, in Spravochnik zaveduyushchego klinikodiagnosticheskoi laboratoriey (Manual of the Head of Clinical Diagnostic Laboratory), 2011, no. 4, pp. 39–48.

    Google Scholar 

  2. Padhukasahasram, B., Halperin, E., Wessel, J., et al., Presymptomatic risk assessment for chronic non-communicable diseases, PLoS One, 2010, vol. 5, no. 12. e14338. doi 10.1371/journal.pone.0014338

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Wheeler, D.L., Barrett, T., Benson, D.A., et al., Database resources of the National Center for Biotechnology Information, Nucleic Acids Res., 2007, vol. 35, pp. D5–D12. doi 10.1093/nar/gkl1031

    Article  CAS  PubMed  Google Scholar 

  4. Korchagin, V.I., Mironov, K.O., Dribnokhodova, O.P., et al., The role of genetic factors in the development of an individual predisposition to ischemic stroke, Ann. Klin. Eksp. Nevrol., 2016, vol. 10, no. 1, pp. 65–75.

    Google Scholar 

  5. Titov, B.V., Matveeva, N.A., Martynov, M.Yu., and Favorova, O.O., Ischemic stroke as a complex polygenic disease, Mol. Biol. (Moscow), 2015, vol. 49, no. 2, pp. 195–216. doi 10.1134/S0026893315020120

    Article  CAS  Google Scholar 

  6. Suslina, Z.A., Illarioshkin, S.N., and Piradov, M.A., Neurology and neuroscience—development forecast, Ann. Klin. Eksp. Nevrol., 2007, vol. 1, no. 1, pp. 5–9.

    Google Scholar 

  7. Platonov, A.E., Mironov, K.O., and Korchagin, V.I., The principles of estimating the average population risk of multifactorial diseases and the distribution of an individual risk index in a population (using the example of ischemic stroke), in Molekulyarnaya diagnostika 2014 (Molecular Diagnostics 2014), Moscow, 2014, vol. 2, pp. 234–235.

    Google Scholar 

  8. Mironov, K.O., Maksimova, M.Yu., and Platonov, A.E., Preliminary results of a comprehensive assessment of genetic susceptibility factors in patients with ischemic stroke, in Molekulyarnaya diagnostika 2014 (Molecular Diagnostics 2014), Moscow, 2014, vol. 2, pp. 251–253.

    Google Scholar 

  9. Sherry, S.T., Ward, M.H., Kholodov, M., et al., dbSNP: the NCBI database of genetic variation, Nucleic Acids Res., 2001, vol. 29, no. 1, pp. 308–311. doi 10.1093/nar/29.1.308

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. International HapMap Consortium, Frazer, K.A., Ballinger, D.G., et al., A second generation human haplotype map of over 3.1 million SNPs, Nature, 2007, vol. 449, pp. 851–861. doi 10.1038/nature06258

    Article  Google Scholar 

  11. 1000 Genomes Project Consortium, Auton, A., Brooks, L.D., et al., A global reference for human genetic variation, Nature, 2015, vol. 526, no. 7571, pp. 68–74. doi 10.1038/nature15393

    Article  Google Scholar 

  12. Engels, W.R., Exact tests for Hardy—Weinberg proportions, Genetics, 2009, vol. 183, no. 4, pp. 1431–1441. doi 10.1534/genetics.109.108977

    Article  PubMed  PubMed Central  Google Scholar 

  13. R Development Core Team, A Language and Environment for Statistical Computing, Vienna: R Foundation for Statistical Computing, 2008. http://www.R-project. org.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to O. P. Dribnokhodova.

Additional information

Original Russian Text © O.P. Dribnokhodova, K.O. Mironov, V.I. Korchagin, E.A. Dunaeva, E.V. Akselrod, A.V. Titkov, A.E. Platonov, G.A. Shipulin, 2017, published in Genetika, 2017, Vol. 53, No. 6, pp. 716–721.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Dribnokhodova, O.P., Mironov, K.O., Korchagin, V.I. et al. Characterization of 48 polymorphic loci as potential markers for the risk of ischemic stroke. Russ J Genet 53, 698–702 (2017). https://doi.org/10.1134/S1022795417060047

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1134/S1022795417060047

Keywords

Navigation