References

vavilov

Вавиловский журнал генетики и селекции

Vavilov Journal of Genetics and Breeding

2500-3259

Institute of Cytology and Genetics of Siberian Branch of the RAS

10.18699/VJ16.121

vavilov-519

Research Article

Генетика человека

Human genetics

Ассоциация полиморфизма G/A гена EPAS1 со спортивной и соревновательной успешностью в группе российских борцов

Association of the EPAS1 gene G/A polymorphism with successful performance in a group of Russian wrestlers

Бондарева

Э. А.

Bondareva

E. A.

Bondareva.E@gmail.com

Година

Е. З.

Godina

E. Z.

Научно-исследовательский институт и Музей антропологии им. Д.Н. Анучина Федерального государственного бюджетного образовательного учреждения высшего образования «Московский государственный университет им. М.В. Ломоносова», Москва, РоссияРоссияInstitute and Museum of Anthropology, Lomonosov Moscow State University, Moscow, RussiaRussian Federation

2016

12032016

2012327

2016

Бондарева Э.А., Година Е.З.

Bondareva E.A., Godina E.Z.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://vavilov.elpub.ru/jour/article/view/519

Многими исследователями отмечается перспективность исследования гена EPAS1 как возможного предиктора спортивной успешности в свете его влияния на процессы доставки и потребления кислорода. Несмотря на это, в современной научной литературе данные о влиянии замен EPAS1 на успешность в различных видах спорта крайне малочисленны и противоречивы. Целью настоящего исследования явилось изучение генетического отбора по полиморфной системе гена EPAS1 (rs1867785) в группе спортсменов-мужчин, занимающихся самбо. В рамках исследования были обследованы 312 испытуемых этнических русских в возрасте от 18 до 30 лет. Из них 92 человека представляют контрольную группу не занимающихся спортом и 220 человек – спортсмены, профессионально занимающиеся борьбой самбо. Для каждого испытуемого, участвовавшего в исследовании, был определен генотип по однонуклеотидному полиморфизму G/A гена EPAS1. Анализ частот встречаемости генотипов EPAS1 в группе спортсменов, занимающихся борьбой самбо, и контрольной группе неспортсменов выявил статистически достоверные различия. В группе спортсменов обнаружено увеличение частоты встречаемости генотипов АА и AG гена EPAS1 (χ2 = 8,68; p = 0,01). Таким образом, в целом для группы спортсменов, занимающихся борьбой самбо и достигших достаточно высокого уровня спортивного мастерства, характерно наличие в генотипе минорного А-аллеля гена EPAS1. Отношение шансов (OR), рассчитанное для данной группы, составило OR = 1,800 (95 % CI 1,227–2,641), что свидетельствует о преимуществе спортсменов-носителей А-аллеля гена EPAS1 перед носителями G-аллеля. Для группы единоборцев, достигших наивысшей спортивной квалификации, по сравнению с неспортсменами OR составило 1,990 (95 % CI 1,195–3,313). Полученные данные свидетельствуют о наличии направленного генетического отбора носителей А- аллеля EPAS1 среди борцов самбо.

A large number of studies showed that the gene EPAS1 may serve as a possible predictor of success in sports because of its influence on the processes of oxygen transportation and consumption. However, data concerning the impact of EPAS1 polymorphisms on sports achievements in the modern research literature are very scarce and contradictory. The aim of the present paper was to study genetic selection in the polymorphic system of the EPAS1 gene (rs1867785) in a group of male sambo practitioners. 312 Russian males from 18 to 30 years of age were studied. Of them, 220 were professional athletes and 92 were non-athletes, who served as the control group. The genotype of a single nucleotide G/A polymorphic system of the EPAS1 gene was determined for each participant of the study. Analysis of genotype frequencies revealed statistically significant differences between the two groups. An increase of АА and AG genotype frequencies was revealed in the group of athletes (χ2 = 8.68, p = 0.01). Thus, for sambo practitioners, who reached high levels, the presence of the minor А-allele in the genotypes was typical. The odd ratio (OR) calculated for this group was 1.800 (95 % CI 1.227–2.641), demonstrating that the carriers of the А-allele of the EPAS1 gene had some advantages over the carriers of the G-allele. OR for the highest-rank wrestlers was even higher, 1.990 (95 % CI 1.195–3.313). These results suggest directed genetic selection in the А-allele carriers of the EPAS1 gene among sambo practitioners.

EPAS1полиморфизмгипоксияспортивный отборгенетический отборспортсмены высокой квалификацииборцы самбо.

EPAS1polymorphismhypoxiasports selectiongenetic selectionhigh-rank athletessambo practitioners

References1

Beall C.M., Cavalleri G.L., Deng L., Elston R.C., Gao Y., Knight J., Li C., Li J.C., Liang Y., McCormack M., Montgomery H.E., Pan H., Robbins P.A., Shianna K.V., Tam S.C., Tsering N., Veeramah K.R., Wang W., Wangdui P., Weale M.E., Xu Y., Xu Z., Yang L., Zaman M.J., Zeng C., Zhang L., Zhang X., Zhaxi P., Zheng Y.T. Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. Proc. Natl Acad. Sci. USA. 2010;107(25):11459-11464. DOI 10.1073/pnas.1002443107

Billaut F., Gore C.J., Aughey R.J. Enhancing team-sport athlete performance: is altitude training relevant? Sports Med. 2012;42:751-67. DOI 10.2165/11634050-000000000-00000

Billaut F., Gore C.J., Aughey R.J. Enhancing team-sport athlete performance: is altitude training relevant? Sports Med. 2012;42:751-67. DOI 10.2165/11634050- 000000000-00000

Bouchard C., Rankinen T., Chagnon Y.C., Rice T., Perusse L., Gagnon J., Borecki I., An P., Leon A.S., Skinner J.S., Wilmore J.H., Province M., Rao D.C. Genomic scan for maximal oxygen uptake and its response to training in the HERITAGE Family Study. J. Appl. Physiol. 2000;88:551-559.

Ema M., Taya S., Yokotani N., Sogawa K., Matsuda Y., Fujii-Kuriyama Y. A novel bHLH-PAS factor with close sequence similarity to hypoxia inducible factor 1alpha regulates the VEGF expression and is potentially involved in lung and vascular development. Proc. Natl Acad. Sci. USA. 1997;94:4273-4278.

Ema M., Taya S., Yokotani N., Sogawa K., Matsuda Y., Fujii-Kuriyama Y. A novel bHLH- PAS factor with close sequence similarity to hypoxia inducible factor 1alpha regulates the VEGF expression and is potentially involved in lung and vascular development. Proc. Natl Acad. Sci. USA. 1997;94:4273-4278.

Eynon N., Hanson E.D., Lucia A., Houweling P.J., Garton F., North K. N., Bishop D.J. Genes for elite power and sprint performance: ACTN3 leads the way. Sports Med. 2013;43:803-817. DOI 10.1007/s40279-013-0059-4

Formenti F., Constantin-Teodosiu D., Emmanuel Y., Cheeseman J., Dorrington K.L., Edwards L.M., Humphreys S.M., Lappin T.R., McMullin M.F., McNamara C.J., Mills W., Murphy J.A., O’Connor D. F., Percy M.J., Ratcliffe P.J., Smith T.G., Treacy M., Frayn K.N., Greenhaff P.L., Karpe F., Clarke K., Robbins P.A. Regulation of human metabolism by hypoxia-inducible factor. Proc. Natl Acad. Sci. USA. 2010;107(28):12722-12727. DOI 10.1073/pnas.1002339107

Formenti F., Constantin-Teodosiu D., Emmanuel Y., Cheeseman J., Dorrington K.L., Edwards L.M., Humphreys S.M., Lappin T.R., McMullin M.F., McNamara C.J., Mills W., Murphy J.A., O’Connor D. F., Percy M.J., Ratcliffe P.J., Smith T.G., Treacy M., Frayn K.N., Greenhaff P.L., Karpe F., Clarke K., Robbins P.A. Regulation of human etabolism by hypoxia-inducible factor. Proc. Natl Acad. Sci. USA. 2010;107(28):12722-12727. DOI 10.1073/pnas.1002339107

Ge R.L., Simonson T.S., Cooksey RC., Tanna U., Qin G., Huff C.D., Witherspoon D.J., Xing J., Zhengzhong B., Prchal J.T., Jorde L.B., McClain D.A. Metabolic insight into mechanisms of high-altitude adaptation in Tibetans. Mol. Genet. Metab. 2012;106(2):244-247. DOI 10.1016/j.ymgme.2012.03.003

Giaccia A.J., Simon M.C., Johnson R. The biology of hypoxia: the role of oxygen sensing in development, normal function, and disease. Genes Dev. 2004;18:2183-2194.

Henderson J., Withford-Cave J.M., Duffy D.L., Cole S.J., Sawyer N.A., Gulbin J.P., Hahn A., Trent R.J., Yu B. The EPAS1 gene influences the aerobic-anaerobic contribution in elite endurance athletes. Hum. Genet. 2005;118:416-423.

Kelly K.R., Williamson D.L., Fealy C.E., Kriz D.A., Krishnan R.K., Huang H., Ahn J., Loomis J.L., Kirwan J.P. Acute altitude-induced hypoxia suppresses plasma glucose and leptin in healthy humans. Metabolism. 2010;59(2):200-205. DOI 10.1016/j.metabol.2009.07.014

Kim J.W., Tchernyshyov I., Semenza G.L., Dang C.V. HIF-1-mediated expression of pyruvate dehydrogenase kinase: a metabolic switch required for cellular adaptation to hypoxia. Cell Metab. 2006;3(3): 177-185.

Loboda A., Jozkowicz A., Dulak J. HIF-1 versus HIF-2–is one more important than the other? Vascul. Pharmacol. 2012;56:245-251. DOI 10.1016/j.vph.2012.02.006

Majmundar A.J., Wong W.J., Simon M.C. Hypoxia-inducible factors and the response to hypoxic stress. Mol. Cell. 2010;40:294-309. DOI 10.1016/j.molcel.2010.09.022

Papandreou I., Cairns R.A., Fontana L., Lim A.L., Denko N.C. HIF-1 mediates adaptation to hypoxia by actively downregulating mitochondrial oxygen consumption. Cell Metab. 2006;3(3):187-197.

Scortegagna M., Morris M.A., Oktay Y., Bennett M., Garcia J.A. The HIF family member EPAS1/HIF-2alpha is required for normal hematopoiesis in mice. Blood. 2003;102:1634-1640.

Scortegagna M., Morris M.A., Oktay Y., Bennett M., Garcia J.A. The HIF family member EPAS1/HIF-2alpha is required for normal hematopoiesis in mice. Blood. 2003;102:1634- 1640.

Takeda N., Maemura K., Imai Y., Harada T., Kawanami D., Nojiri T., Manabe I., Nagai R. Endothelial PAS domain protein 1 gene promotes angiogenesis through the transactivation of both vascular endothelial growth factor and its receptor, Flt-1. Circulation Res. 2004; 95:146-153.

Tian H., Hammer R.E., Matsumoto A.M., Russell D.W., McKnight S.L. The hypoxia-responsive transcription factor EPAS1 is essential for catecholamine homeostasis and protection against heart failure during embryonic development. Genes Dev. 1998;12:3320-3324.

Tian H., Hammer R.E., Matsumoto A.M., Russell D.W., McKnight S.L. The hypoxia- responsive transcription factor EPAS1 is essential for catecholamine homeostasis and protection against heart failure during embryonic development. Genes Dev. 1998;12:3320-3324.

Tian H., McKnight S.L., Russell D.W. Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells. Genes Dev. 1997;11:72-82.

Voisin S., Cieszczyk P., Pushkarev V.P., Dyatlov D.A., Vashlyayev B. F., Shumaylov V.A., Maciejewska-Karlowska A., Sawczuk M., Skuza L., Jastrzebski Z., Bishop D.J., Eynon N. EPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes. BMC Genomics. 2014;18(15):382. DOI 10.1186/1471-2164-15-382

Wada T. Transcription factor EPAS1 regulates insulin signaling pathway. Yakugaku Zasshi. 2007;127(1):143-151.

Wada T. Transcription factor EPAS1 regulates insulin signaling pathway. Yakugaku Zasshi. 2007;127(1):143-151

The authors declare that there are no conflicts of interest present.