Molecular genetics for sports medicine

  • I. B. Mosse
  • A. V. Kilchevskyi
  • P. M. Morozyk
  • A. L. Honchar
  • K. V. Zhur
DOI: https://doi.org/10.7124/FEEO.v21.862

Abstract

Aim. To develop and test a molecular-genetic technology for evaluation of a genetic predisposition to thrombogenic diseases, bone fractures and emotional disruptions resulting from physical and emotional loads. Methods. Molecular genetic analysis was carried out by PCR. Polymorphisms of F2 and F5 genes were analyzed to assess the risk of thrombus formation. Polymorphisms of VDR, COL1A1 and COL1A2 genes were analyzed to determine a bone fracture risk. Genetic stress resistance was identified by genes of dopaminergic system (DRD2, DRD4) and serotoninergic system (HTR2A, 5-HTTVNTR and 5-HTTLPR). The HADS, Maslach and Boyko psychological tests were used. Results. It was revealed that 4.3 % of the tested athletes are carriers of Leiden mutation and 2.2 % – of prothrombin gene mutation. It was shown that polymorphisms ApaI and BsmI of VDR gene are the most informative for bone fracture risk detection. Some variants and combinations of genes were shown to be the most informative for a stress-resistance identification. Conclusions. The technology for risk evaluation of different pathologies resulting from physical and emotional loads has been developed and tested.

Keywords: sport, stress-resistance, bone fractures, gene polymorphisms, PCR analysis.

References

Ahmetov I.I., Williams A.G., Popov D.V., Lyubaeva E.V., Hakimullina A.M., Fedotovskaya O.N. The combined impact of metabolic gene polymorphisms on elite endur-ance athlete status and related phenotypes. Hum. Genet. 2009. V. 6. P. 751–761. doi: 10.1007/s00439-009-0728-4

Morozik P.M., Amel'ianovich M.D., Zhur K.V., Nesterenko E.V., Evleev P.V., Mosse I.B. Analiz geneticheskoy predraspolozhennosti k kostnym perelomam u sportsmenov. Molekuliarnaia i prikladnaia genetika. 2016. V. 21. P. 81–88. [in Russian]

Kalashnikova E.A., Kokarovtseva S.N., Kovalenko T.F., Sirotkina O.V., Sheydina A.M., Rilva I.V., Illarioshkin S.N., Patrushev L.I. Chastoty mutatsiy v genakh faktora V (FV Leiden), protrombina (G20210A) i 5,10-metilentetragidrofolatreduktazy (C677T) u russkikh. Meditsinskaia genetika. 2006. No. 7. P. 27–29. [in Russian]

Womack C.J., Nagelkirk P.R., Coughlin A.M. Exercise-induced changes in coagulation and fibrinolysis in healthy populations and patients with cardiovascular disease. Sports Med. 2003. V. 33(11). P. 795–807.

Aluja A., Garcia L.F., Blanch A., De Lorenzo D., Fibla J. Impulsive-disinhibited personality and serotonin transporter gene polymorphisms: association study in an inmate's sample. J Psychiatr Res. 2009. V. 43(10). P. 906–914. doi: 10.1016/j.jpsychires.2008.11.008.

Unschuld P.G., Ising M., Erhardt A., Lucae S., Kloiber S., Kohli M., Salyakina D., Welt T., Kern N., Lieb R., Uhr M., Binder E.B., Müller-Myhsok B., Holsboer F., Keck M.E. Polymorphisms in the serotonin receptor gene HTR2A are associated with quantitative traits in panic disorder. Am J Med Genet B Neuropsychiatr Genet. 2007. V. 5(4). P. 424–429.

Lawford B.R., Young R., Noble E.P., Kann B., Ritchie T. The D2 dopamine receptor (DRD2) gene is associated with co-morbid depression, anxiety and social dysfunction in untreated veterans with post-traumatic stress disorder. Eur Psychiatry. 2006. V. 21(3). P. 180–185.

Camara E., Krämer U.M., Cunillera T., Marco-Pallarés J., Cucurell D., Nager W., Mestres-Missé A., Bauer P., Schüle R., Schöls L., Tempelmann C., Rodriguez-Fornells A., Münte T.F. The effects of COMT (Val108/158Met) and DRD4 (SNP-521) dopamine genotypes on brain activations related to valence and magnitude of rewards. Cereb Cortex. 2010. V. 20(8). P. 1985–1996. doi: 10.1093/cercor/bhp263.