Personalities

Swarovskaya (Spiridonova) Maria

Contact details

Brief Biography

Education:
1978-1983 Tomsk State University, Biological Faculty, Specialization – genetics.
Employment:
1999-Present Laboratory of Evolution Genetics of the Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Researcher
2001-Present Department of Medical Genetics, Siberian State Medical University
1987-1999 Laboratory of Molecular Genetics of the Institute of Medical Genetics, Siberian Branch of the Russian Acad. Med. Sci. (Tomsk. Russia), Researcher
1999- PhD thesis “Molecular Genetics Investigation of the Predisposition to Coronary Artery Disease”
1983-1987 Institute of Molecular Biology (Novosibirsk. Russia). Laboratory of Genetic Engineering, Researcher

Research Interests

Genome-wide analysis ethnic groups of Northern Eurasia. Population history, genetic relationships, migration and gene pool of aborigines of Siberia. Genetic diversity in populations of Altaic language family. Genetic differentiation and structure of linkage disequilibrium in different gene loci of the population of Siberia. The age of mutations in different genes.
Genetic and molecular bases of cardiovascular diseases, myotonic dystrophy, oculopharyngeal muscular dystrophy, mental traits, recurrent pregnancy loss. Candidate genes. Personalized medicine.
More than 40 articles in Russian and international peer-reviewed journals

Main Publications

1. E. A. Trifonova, M. G. Swarovskaya, O. A. Ganzha, O. V. Voronkova, T. V. Gabidulina, V. A. Stepanov The interaction effect of angiogenesis and endothelial dysfunction-related gene variants increases the susceptibility of recurrent pregnancy loss. Journal of Assisted Reproduction and Genetics. 2019. https://doi.org/10.1007/s10815-019-01403-2


2. Marusin A.V., Makeeva O.A., Vagaytseva K.V., Bocharova A.V., Swarovskaya M.G., Salakhov R.R., Stepanov V.A. Association of apolipoprotein E gene polymorphism with cognitive abilities variability of elderly people. Medical Genetics (rus). 2018. № 1. P. 20-26.


3. Triska P., Chekanov N., Stepanov V., Khusnutdinova E.K., Kumar G.P.A., Akhmetova V., Babalyan K., Boulygina E., Kharkov V., Gubina M., Khidiyatova I., Khitrinskaya I., Khrameeva E.E., Khusainova R., Konovalova N., Litvinov S., Marusin A., Mazur A.M., Puzyrev V., Ivanoshchuk D., Spiridonova M., Teslyuk A., Tsygankova S., Triska M., Trofimova N., Vajda E., Balanovsky O., Baranova A., Skryabin K., Tatarinova T.V., Prokhortchouk E. Between Lake Baikal and the Baltic Sea: genomic history of the gateway to Europe // BMC Genetics 2017, 18 (Suppl 1):110 P. 5-20. https://doi: 10.1186/s12863-017-0578-3


4. V. Marusin H. A. Kurtanov, N. R. Maksimova, M. G. Swarovsakaja, and V. A. Stepanov Haplotype Analysis of Oculopharyngeal Muscular Dystrophy (OPMD) Locus in Yakutia. Russian Journal of Genetics, 2016, Vol. 52, No. 3, pp. 331–338.


5. Marusin A.V.1, Kornetov A.N., Swarovskaya M.G., Vagaitseva K.V., Pavlenyuk E.S., Stepanov V.A. Genetic predisposition to alcoholism, schizophrenia and Alzheimer's disease with psychodiagnostic characteristics in Russian population.. 2015. V. 15, № 5. P. 83-96


6. M. G. Swarovskaya, S. K. Stepanova, A. V. Marussin, A. L. Sukhomyasova, N. R. Maximova, e, and V. A. Stepanov. Genetic Variability and Structure of SNP Haplotypes in the DMPK Gene in Yakut and Other Ethnic Groups of Northern Eurasia in Relation to Myotonic Dystrophy. Russian Journal of Genetics, 2015, Vol. 51, No. 6, pp. 619–626.


7. M. G. Swarovskaya, A. V. Marusin, T. I. Tacheeva, I. Yu. Khitrinskaya, N. I. Gafarov, and V. A. Stepanov Analysis of Eight Polymorphic Alu Elements in the Teleuts Population. Russian Journal of Genetics, 2015, Vol. 51, No. 8, pp. 827–830.


8. Swarovskaya M.G., Stepanova S.K., Marussin A.V., Sukhomyasova A.X., Maximova N.R., Stepanov V.A. Analysis of the CTG-repeats DMPK gene in populations of Yakutia, Siberia and Central Asia. Medical Genetics. 2015. Vol.14.№7(157). P.17-21.


9. Population frequency and age of C.806 C>T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutiaю Galeeva N.M., Polyakov A.V., Voevoda M.I., Spiridonova M.G., Stepanov V.A. Russian Journal of Genetics. 2013. Vol. 49. № 4. P. 457-463.


10. Zabnenkova V.V., Dadali E.L., Zinchenko R.A., Polyakov A.V., Spiridonova M.G. Heterozygous carrier rate for type I-IV proximal spinal muscular atrophy in Chuvashes, Udmurts, and residents of the Moscow region. Russian Journal of Genetics. 2012. Vol. 48. № 8. P. 838-845.


11. Trifonova E.A., Spiridonova M.G., Puzyrev V.P., Stepanov V.A., Gabidulina T.V., Urnov F.D. Analysis of the MTHFR gene linkage disequilibrium structure and association of polymorphic gene variants with coronary atherosclerosis.Russian Journal of Genetics. 2012. Vol. 48. № 10. P. 1035-1047.


12. Stepanov V.A., Balanovsky O.P., Melnikov A.V., Lash-Zavada A.Yu., Kharkov V.N., Tyazhelova T.V., Akhmetova V.L., Zhukova O.V., Shneider Yu.V., Shilnikova I.N., Borinskaya S.A., Marusin A.V., Spiridonova M.G., Simonova K.V., Khitrinskaya I.Yu., Radzhabov M.O., Romanov A.G., Shtygasheva В O.V., Koshel S.M., Balanovskaya E.V. et al. Characteristics of populations of the russian federation over the panel of fifteen loci used for dna identification and in forensic medical examination . Acta Naturae . 2011. Vol. 3. № 2 (9). P. 56-67.


13. Trifonova E.A., Spiridonova M.G., Puzyrev V.P., Stepanov V.A. Haplotype structure at Methilentetrahydropholatreductase locus: population specificity and association with coronary atherosclerosis. Medical Genetics. 2010. №1.P.39-47.


14. Trifonova E.A., Spiridonova M.G., Stepanov V.A. Genetic diversity and the structure of linkage disequilibrium in the methylenetetrahydrofolate reductase locus . Russian Journal of Genetics. 2008. Vol. 44. № 10. P. 1224-1232.


15. Kharkov V.N., Stepanov V.A., Medvedeva O.F., Spiridonova M.G., Puzyrev V.P., Maksimova N.R., Nogovitsina A.N. The origin of yakuts: analysis of the Y-chromosome haplotypes . Molecular Biology. 2008. Vol. 42. № 2. P. 198-208.)


16. Pels Ya.R., Marusin A.V., Spiridonova M.G., Stepanov V.A. Polymorphism of the human MDR1 gene in Siberian and Central Asian populations. Molecular Biology. 2007. Vol. 41. № 6. P. 894-900


17. Varzari, A, Stephan, W., Stepanov, V., Raicu, F., Cojocaru, R., Roschin, Yu., Glavce, Ch., Dergachev, V., Spiridonova, M., Schmidt, H.D. & Weiss, E. Population history of the Dniester-Carpathians: evidence from Alu markers. J Hum Genet. 2007. N2. Р. 1434-5161.


18. Kharkov V.N., Stepanov V.A., Medvedeva O.F., Spiridonova M.G., Puzyrev V.P., Voevoda M.I., Tadinova V.N.Russian Gene pool differences between Northern and Southern Altaians inferred from the data on Y-chromosomal haplogroups. Journal of Genetics. 2007. Vol. 43. № 5. P. 551-562.)


19. Marussin A.V., Stepanov V.A., Spiridonova M.G., Kharkov V.A., Pels J.R., Puzyrev V.P. Association analysis of alcohol metabolizing enzymes ADH1B, ADH7, CYP2E1 gene polymorphism with risk for coronary atherosclerosis Russian Journal of Genetics. 2007. Vol. 43. № 3. P. 323-329


20. Spiridonova M.G., Stepanov V.A., Puzyrev V.P., Maximova N.R.Russian Population study of frequency of methylenetetrahydrofolate reductase C677T gene polymorphism in Yakutia . Journal of Genetics. 2004. Vol. 40. № 5. P. 570-573


21. Marussin A.V., Stepanov V.A., Spiridonova M.G., Puzyrev V.P. Polymorphisms of alcohol dehydrogenase genes ADH1B and ADH7 in russian populations of Siberia . Molecular Biology. 2004. Vol. 38. № 4. P. 524-529


22. Khitrinskaya I.Yu., Stepanov V.A., Puzyrev V.P., Spiridonova M.G., Puzyrev K.V., Maksimova N.R., Nogovitsyna A.N. Genetic peculiarity of the Yakut population as inferred from autosomal loci. Molecular Biology. 2003. Vol. 37. № 2. P. 205-209


23. Puzyrev V.P., Stepanov V.A., Golubenko M.V., Kharkov V.N., Spiridonova M.G., Puzyrev K.V., Maximova N.R., Nogovitsina A.N. mtDNA and Y-chromosome lineages in the Yakut population . Russian Journal of Genetics. 2003. Vol. 39. № 7. P. 816-822.)


24. Khitrinskaya I.Yu., Stepanov V.A., Puzyrev V.P., Spiridonova M.G., Voevoda M.I. Genetic differentiation of the population of Central Asia inferred from autosomal markers . Russian Journal of Genetics. 2003. Т. 39. № 10. С. 1175-1183


25. Stepanov V.A., Spiridonova M.G., Tadinova V.N., Puzyrev V.P. Analysis of genetic diversity of north Eurasian populations using autosomal microsatellite loci . Russian Journal of Genetics. 2003. Vol. 39. № 10. P. 1168-1174


26. Stepanov V.A., Spiridonova M.G., Puzyrev V.P. Comparative phylogenetic study of native North Eurasian populations using a panel of autosomal microsatellite loci . Russian Journal of Genetics. 2003. Vol. 39. № 11. P. 1326-1333


27. Spiridonova M.G., Stepanov V.A., Puzyrev V.P., Karpov R.S. Analysis of gene complexes predisposing to coronary atherosclerosis . Russian Journal of Genetics. 2002. Vol. 38. № 3. P. 300-308


28. Spiridonova M.G., Stepanov V.A., Puzyrev V.P., Kosyankova T.V., Karpov R.S. Association between polymorphism T174M of the angiotensinogen gene and coronary atherosclerosis in the Tomsk population . Molecular Biology. 2001. Vol. 35. № 1. P. 11-14


29. Spiridonova M.G., Stepanov V.A., Puzyrev V.P., Karpov R.S. The estimation of gametic disequilibrium between DNA markers in candidate genes for coronary artery disease (CAD) and the associations of gene complexes with risk factors for CAD. Int.J.Circompolar Health 2001. Vol.60. № 2. Р.222-227


30. Puzyrev K.V., Stepanov V.A., Pavlukova E.N., Kosyankova T.V., Spiridonova M.G., Karpov R.S., Puzyrev V.P. Association of angiotensinogene, angiotensin-I converting enzyme and endothelial cell nitric oxide synthase gene polymorphism with blood pressure and left ventricular hypertrophy American Journal of Hypertension.-2000. V.54(13).P.573


31. Spiridonova M.G., Stepanov V.A., Puzyrev V.P., Karpov R.S. Relationship between the 5,10-Methylenetetrahydrofolate reductase C677T gene polymorphism and clinical manifestation of coronary artery disease. Russian Journal of Genetics. 2000. Vol. 36. № 9. P. 1061-1065


32. Stepanov V.A., Puzyrev V.P., Spiridonova M.G., Khitrinskaya I.Yu. Analysis of the ALU insertion polymorphism in urban and rural Russian populations of Siberia . Russian Journal of Genetics. 1999. Vol. 35. № 8. P. 979-983


33. Karpov R., Pavlyukova E., Stepanov V., Puzyrev K., Spiridonova M. Left ventricular hypertrophy and angiotensin converting enzyme gene polymorphism. American Journal of Hypertension. 1998. Vol. 11. № S4. P. 196A.


34. Stepanov V.A., Spiridonova M.G., Puzyrev V.P., Puzyrev K.V., Pavliukova E.N., Karpov R.S. Genetic polymorphism of the angiotensin-converting enzyme and endothelial cell nitric oxide synthase genes in patients with arterial hypertension, left ventricular hypertrophy, and hypertrophic cardiomyopathy. Russian Journal of Genetics. 1998. Vol. 34. № 11. P. 1348-1351