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Search for associations between G/A polymorphism of the EPAS1 gene and the maximal oxygen consumption in Russian athletes

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Abstract

This study investigates associations between G/A polymorphism of the epithelial PAS domain protein 1 (EPAS1) gene (rs1867785) and the maximum rate of oxygen consumption (VO2max) in male Russian athletes. The study engaged 241 male athletes from different sports; the control group of nonathletes included 92 subjects. Increased frequencies of the AA and AG genotypes of the EPAS1 gene (χ2 = 14.16, p = 0.03) were found in the cohort of male athletes. The frequencies of these alleles in the subgroups with moderate (EPAS1*A 38.1% and EPAS1*G 61.9%) and high (EPAS1*A 41.8% and EPAS1*G 58.2%) VO2max values significantly differed from those in the control group (χ2 = 7.53, p = 0.006 and χ2 = 6.58, p = 0.01, respectively). The higher aerobic capacities are probably associated with the presence of at least one minor A allele of the EPAS1 gene in the genome.

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References

  1. Bentley, D.J., Newell, J., and Bishop, D., Incremental exercise test design and analysis: implications for performance diagnostics in endurance athletes, Sports Med., 2007, vol. 37, no. 7, p. 575.

    Article  PubMed  Google Scholar 

  2. Majmundar, A.J., Wong, W.J., and Simon, M.C., Hypoxia-inducible factors and the response to hypoxic stress, Mol. Cell, 2010, vol. 40, no. 2, p. 294.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Peng, J., Zhang, L., Drysdale, L., and Fong, G.H., The transcription factor EPAS-1/hypoxia-inducible factor 2alpha plays an important role in vascular remodeling, Proc. Natl. Acad. Sci. U.S.A., 2000, vol. 97, no. 15, p. 8386.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Ema, M., Taya, S., Yokotani, N., et al., A novel bHLHPAS factor with close sequence similarity to hypoxiainducible factor 1alpha regulates the VEGF expression and is potentially involved in lung and vascular development, Proc. Natl. Acad. Sci. U.S.A., 1997, vol. 94, no. 9, p. 4273.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Tian, H., McKnight, S.L., and Russell, D.W., Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells, Genes Dev., 1997, vol. 11, no. 1, p. 72.

    Article  CAS  PubMed  Google Scholar 

  6. Giaccia, A.J., Simon, M.C., and Johnson, R., The biology of hypoxia: the role of oxygen sensing in development, normal function, and disease, Genes Dev., 2004, vol. 18, no. 18, p. 2183.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Takeda, N., Maemura, K., Imai, Y., et al., Endothelial PAS domain protein 1 gene promotes angiogenesis through the transactivation of both vascular endothelial growth factor and its receptor, Flt-1, Circ. Res., 2004, vol. 95, p. 146.

    Article  CAS  PubMed  Google Scholar 

  8. Loboda, A., Jozkowicz, A., and Dulak, J., HIF-1 versus HIF-2-is one more important than the other?, Vasc. Pharmacol., 2012, vol. 56, nos. 5–6, p. 245.

    Article  CAS  Google Scholar 

  9. Henderson, J., Withford-Cave, J.M., Duffy, D.L., et al., The EPAS1 gene influences the aerobic-anaerobic contribution in elite endurance athletes, Hum. Genet., 2005, vol. 118, nos. 3–4, p. 416.

    Article  CAS  PubMed  Google Scholar 

  10. Voisin, S., Cieszczyk, P., Pushkarev, V.P., et al., EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes, BMC Genomics, 2014, vol. 15, p. 382.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Eynon, N., Hanson, E.D., Lucia, A., et al., Genes for elite power and sprint performance: ACTN3 leads the way, Sports Med., 2013, vol. 43, no. 9, p. 803.

    Article  PubMed  Google Scholar 

  12. Bouchard, C., Rankinen, T., Chagnon, Y.C., et al., Genomic scan for maximal oxygen uptake and its response to training in the HERITAGE Family Study, J. Appl. Physiol., 2000, vol. 88, no. 2, p. 551.

    CAS  PubMed  Google Scholar 

  13. Beall, C.M., Cavalleri, G.L., Deng, L., et al., Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders, Proc. Natl. Acad. Sci. U.S.A., 2010, vol. 107, no. 25, p. 11459.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Tian, H., Hammer, R.E., Matsumoto, A.M., et al., The hypoxia-responsive transcription factor EPAS1 is essential for catecholamine homeostasis and protection against heart failure during embryonic development, Genes Dev., 1998, vol. 12, no. 21, p. 3320.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Scortegagna, M., Morris, M.A., Oktay, Y., et al., The HIF family member EPAS1/HIF-2alpha is required for normal hematopoiesis in mice, Blood, 2003, vol. 102, no. 5, p. 1634.

    Article  CAS  PubMed  Google Scholar 

  16. Kelly, K.R., Williamson, D.L., Fealy, C.E., et al., Acute altitude-induced hypoxia suppresses plasma glucose and leptin in healthy humans, Metabolism, 2010, vol. 59, no. 2, p. 200.

    Article  CAS  PubMed  Google Scholar 

  17. Ge, Ri-Li., Simonson, T.S., Cooksey, R.C., et al., Metabolic insight into mechanisms of high-altitude adaptation in Tibetans, Mol. Genet. Metab., 2012, vol. 106, no. 2, p. 244.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Papandreou, I., Cairns, R.A., Fontana, L., et al., HIF1 mediates adaptation to hypoxia by actively downregulating mitochondrial oxygen consumption, Cell Metab., 2006, vol. 3, no. 3, p. 187.

    Article  CAS  PubMed  Google Scholar 

  19. Kim, J.W., Tchernyshyov, I., Semenza, G.L., and Dang, C.V., HIF-1-mediated expression of pyruvate dehydrogenase kinase: a metabolic switch required for cellular adaptation to hypoxia, Cell Metab., 2006, vol. 3, no. 3, p. 177.

    Article  PubMed  Google Scholar 

  20. Formenti, F., Constantin-Teodosiu, D., Emmanuel, Y., et al., Regulation of human metabolism by hypoxiainducible factor, Proc. Natl. Acad. Sci. U.S.A., 2010, vol. 107, no. 28, p. 12722.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Correspondence to E. A. Bondareva.

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Original Russian Text © E.A. Bondareva, A.N. Bleer, E.Z. Godina, 2016, published in Fiziologiya Cheloveka, 2016, Vol. 42, No. 3, pp. 120–124.

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Bondareva, E.A., Bleer, A.N. & Godina, E.Z. Search for associations between G/A polymorphism of the EPAS1 gene and the maximal oxygen consumption in Russian athletes. Hum Physiol 42, 335–338 (2016). https://doi.org/10.1134/S0362119716010047

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  • DOI: https://doi.org/10.1134/S0362119716010047

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