Some aspects of gene association with high sport achievements

Most papers on sport genetics identify differences between genotypes of athletes and a control group. It is obvious that the genetic differences should also be among sportsmen with different qualifications. Additionally, athletes’ performance depends not only on their genotypes, but also on the gene activities, which can be different during the training process in various athletes.

The aim of the study was to compare genotypes of athletes with different qualifications and to analyze the change in expression of some genes responsible for the physical performance. Genotypes of 143 elite sportsmen of 18 national teams were analyzed by PCR method. A comparison of the genotypes of Masters of Sports, International Masters of Sports and Honored Masters of Sports showed that the frequencies of favorable gene variants were higher in the genotypes of more qualified athletes; it proves an appropriate genetic potential necessity for high achievements in sports. The analysis of UCP2, HIF1A and MTHFR gene expression changes in response to two-week hypoxiс training was performed on 15 skaters of high qualification. We found that average UCP2 and MTHFR mRNA levels had significantly increased after the training but the expression of the HIF1A gene had reduced. At the same time, individual athlete variability in UCP2, HIF1A and MTHFR gene expression was revealed. Genotype influence on gene expression was shown with the help of the UCP2 gene – its activity was higher in sportsmen with Val/Val than with Val/Ala or Ala/Ala genotypes. Consequently, genotyping and analysis of gene expression is very important for athlete selection and training. 

1. Agresti A. Categorical Data Analysis. 2nd ed. N.Y.: Wiley, 2002;91-101.

2. Ahmetov I.I. Molekulyarnaya genetika sporta [Molecular genetics of sport]. Moscow: Sovetskiy Sport, 2009. (in Russian)

3. Ameln H., Gustafsson T., Sundberg J., Okamoto K., Jansson E., Poellinger L., Makino Y. Physiological activation of hypoxia inducible factor-1 in human skeletal muscle. FASEB J. 2005;19(8):1009-1011. DOI 10.1096/fj.04-2304fje.

4. Barres R., Zierath J.R. DNA methylation in metabolic disorders. Am. J. Clin. Nutr. 2011;93(4):897-900. DOI 10.3945/ajcn.110.001933.

5. Brand M.D., Esteves T.C. Physiological functions of the mitochondrial uncoupling proteins UCP2 and UCP3. Cell Metab. 2005;2(2):85-93. DOI 10.1016/j.cmet.2005.06.002.

6. Buemann B., Schierning B., Toubro S., Bibby B.M., Sørensen T., Dalgaard L., Pedersen O., Astrup A. The association between the val/ala-55 polymorphism of the uncoupling protein 2 gene and exercise efficiency. Int. J. Obes. Relat. Metab. Disord. 2001;25(4):467-471.

7. Döring F., Onur S., Fischer A., Boulay M.R., Pérusse L., Rankinen T., Rauramaa R., Wolfarth B., Bouchard C. A common haplotype and the Pro582Ser polymorphism of the hypoxia-inducible factor-1α (HIF1A) gene in elite endurance athletes. J. Appl. Physiol. 2010; 108(6):1497-1500. DOI 10.1152/japplphysiol.01165.2009.

8. Druzhevskaya A.M. Polimorfizm gena ACTN3 u sportsmenov [R577X polymorphism of the ACTN3 gene in athletes]. Geneticheskie, psikhofizicheskie i pedagogicheskie tekhnologii podgotovki sportsmenov [Genetic, Psychophysical and Pedagogical Technologies of Athlete Training]. Petersburg, 2006;58-67. (in Russian)

9. Janssen P. Lactate Threshold Training. L.: Human Kinetics, 2001.

10. Kikuchi N., Miyamoto-Mikami E., Murakami H., Nakamura T., Min S.K., Mizuno M., Naito H., Miyachi M., Nakazato K., Fuku N. ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes. Eur. J. Sport. Sci. 2015;16(6):694-701. DOI 10.1080/17461391.2015.1071879.

11. Kukhtinskaya L.V., Zhur K.V., Kundas L.A. Molecular genetic analysis of genetic markers of adaptation to hypoxia in highly qualified athletes. Prilozhenie k zhurnaly “Vestsі Natsyanalnay akademіі nauk Belarusi” = Supplement to Proceedings of the National Academy of Sciences of Belarus. 2012;3:102-105. (in Russian)

12. Kundas L.A., Zhur K.V., Byshnev N.I., Prohorova T.N., Lositskiy Y.A., Mosse I.B. Analysis of genetic markers for resistance to a physical stress in elite collegiate rowers. Molekular. i prikl. genetika = Mol. Appl. Genetics. 2013;14:101-106. (in Russian)

13. Lundby C., Gassmann M., Pilegaard H. Regular endurance training reduces the exercise induced HIF-1α and HIF-2α mRNA expression in human skeletal muscle in normoxic conditions. Eur. J. Appl. Physiol. 2006;96(4):363-369. DOI 10.1007/s00421-005-0085-5.

14. Montgomery H.E., Marshall R., Hemingway H., Myerson S., Clarkson P., Dollery C., Hayward M., Holliman D.E., Jubb M., World M., Thomas E.L., Brynes A.E., Saeed N., BarnardM., BellJ.D., PrasadK., Rayson M., Talmud P.J., Humphries S.E. Human gene for physical performance. Nature. 1998;393:221-222. DOI 10.1038/30374.

15. Mosse I.B., GoncharA.L. KukhtinskayaL.V., MosseN.I., MalashevichP.N., SemenyakovA.V. Genetic markers of organism resistance to hypoxia. Molekular. i prikl. genetika = Mol. Appl. Genetics. 2010;11:74-82. (in Russian)

16. Mosse I.B., Gonchar A.L., Zhur K.V., Kundas L.A., Byshnev N.I. Molecular genetic analysis of predisposition to various sports. Dosyagnennya i problemi genetiki, selektsii ta biotekhnologii = Achievements and Problems of Genetics, Breeding, and Biotechnology. 2012a;3:332-337. (in Russian)

17. Mosse I.B., Gonchar A.L., Zhur K.V., Kundas L.A., Byshnev N.I., MalashevichP.N., LositskiyE.A., PozdnjakN.V. A system of genetic testing of athletes for resistance to hypoxia. Konsilium = Consilium. 2013;3:17-18. (in Russian)

18. Mosse I.B., Gonchar A.L., Zhur K.V., Mosse N.I., Kundas L.A., Byshnev N.I., Malashevich P.N., Semenyakov A.V. A genotype comparison of different specialization sportsmen by sport gene complex. Molekular. i prikl. genetika = Mol. Appl. Genetics. 2012b;13:19-24. (in Russian)

19. Rigat B., Hubert C., Corvol P., Soubrier F. PCR detection of the insertion/deletion polymorphism of the human angiotensin converting enzyme gene (DCP1) (dipeptidyl carboxypeptidase 1). Nucl. Acids Res. 1992;20(6):1433.

20. Sgourou A., Fotopoulos V., Kontos V., Patrinos G.P., Papachatzopoulou A. Association of genome variations in the reninangiotensin system with physical performance. Human Genomics. 2012;6:24. DOI 10.1186/1479-7364-6-24.

21. Stepto N.K., Coffey V.G., Carey A.L., Ponnampalam A.P., Canny B.J., Powell D., Hawley J. A. Global gene expression in skeletal muscle from well-trained strength and endurance athletes. Med. Sci. Sports Exerc. 2009;41:546-565. DOI 10.1249/mss.0b013e31818c6be9.

22. Terruzzi I., Senesi P., Montesano A., Luzi L. Genetic polymorphisms of the enzymes involved in DNA methylation and synthesis in elite athletes. Physiol. Genomics. 2011;43(16):965-973. DOI 10.1152/physiolgenomics.00040.2010.

23. Wang P., Koehle M.S., Rupert J.L. No association between alleles of the bradykinin receptor-B2 gene and acute mountain sickness. Exp. Biol. Med. 2010;235(6):737-740. DOI 10.1258/ebm.2010.009325.

24. Zempo H., Tanabe K., Murakami H., IemitsuM., MaedaS., KunoS. Agedifferences in the relation between ACTN3 R577X polymorphism and thigh-muscle cross-sectional area in women. Genet. Testing Mol.Biomarkers. 2011;15(9):639-643. DOI 10.1089/gtmb. 2011.0005.

25. Zhur K.V., Kundas L.A., Byshnev N.I., LositskiyY.A., MalashevichP.N., Mosse I.B. Molecular genetic analysis of HIF1A gene to test athlete performance. Molekular. i prikl. genetika = Mol. Appl. Genetics. 2013;13:19-24. (in Russian)