Error message

Deprecated function: The each() function is deprecated. This message will be suppressed on further calls in i18n_book_navigation_set_breadcrumb() (line 212 of /home/c/coderteam/sciencesport.ru/public_html/sites/all/modules/i18n_book_navigation/i18n_book_navigation.module).

Genetic testing in exercise and sport - have direct-to-consumer genetic tests come of age?


А.Г. Уильямс
Центр геномных исследований физических упражнений, двигательной деятельности и здоровья Институт исследований двигательной деятельности Манчестерский метрополитанский университет г. Кру, Великобритания
A.G.Williams@mmu.ac.uk
Образовательная организация: Центр геномных исследований физических упражнений, двигательной деятельности и здоровья Институт исследований двигательной деятельности Манчестерский метрополитанский университет г.Кру, Великобритания
С.М. Хеффернан
Центр геномных исследований физических упражнений, двигательной деятельности и здоровья Институт исследований двигательной деятельности Манчестерский метрополитанский университет г. Кру, Великобритания

Образовательная организация: Центр геномных исследований физических упражнений, двигательной деятельности и здоровья Институт исследований двигательной деятельности Манчестерский метрополитанский университет г.Кру, Великобритания
С.Х. Дэй

S.H.Day@mmu.ac.uk
Образовательная организация: Центр геномных исследований физических упражнений, двигательной деятельности и здоровья Институт исследований двигательной деятельности Манчестерский метрополитанский университет г.Кру, Великобритания

Ключевые слова: sport, athlete, exercise, genetic test, consumers.

Аннотация: The general consensus amongst sport and exercise genetics researchers is that genetic tests based on current knowledge have little or no role to play in talent identification or the individualised prescription of training to maximise performance or minimise injury risk. Despite this, genetic tests related to sport and exercise are widely available on a commercial basis. This study assessed commercially-available genetic tests related to sport and exercise currently marketed via the internet. Twenty-two companies were identified as providing direct-to-consumer (DTC) genetic tests marketed in relation to human sport or exercise performance or injury. The most commonly-tested variant was the R577X SNP in the ACTN3 gene, tested by 85% of the 13 companies that appear to present information about their genetic tests on websites - which corresponds with our assessment that ACTN3 R577X is currently the polymorphism with the strongest scientific evidence in support of an association with sport and exercise phenotypes. 54% of companies that present information about their genetic tests used panels of 2-21 variants, including several with very limited supporting scientific evidence. 46% of companies tested just a single variant, with very low ability to explain complex sport and exercise phenotypes. It is particularly disappointing that 41% of companies offering DTC genetic tests related to exercise and sport did not appear to state publicly the genetic variants they assess, making scrutiny by academic scholars and consumers impossible. Companies offering DTC genetic tests related to sport and exercise should ensure that they are responsible in their activities.

Список литературы:

1. Ahmetov, I.I. Druzhevskaya, A.M., Lyubaeva, E.V., Popov, D.V., Vinogradova, O.L., Williams, A.G. (2011) The dependence of preferred competitive racing distance on muscle fibre type composition and ACTN3 genotype in speed skaters. Exp Physiol 96:1302-1310.

2. Ahmetov, 1.1., Fedotovskaya, O.N. (2012) Sports genomics: Current state of knowledge and future directions. Cell Mol Exerc Physiol 1:e1 1-24.

3. Ahmetov, I.I., Williams, A.G., Popov, D.V., Lyubaeva, E.V., Hakimullina, A.M., Fedotovskaya, O.N. et al (2009) The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes. Hum Genet 26:751-761.

4. Bouchard, C. (2011) Overcoming barriers to progress in exercise genomics. Exerc Sport Sci Rev 39:212-217.

5. Bouchard, C., An, P., Rice, T., Skinner, J.S., Wilmore, J.H., Gagnon, J. et al (1999) Familial aggregation of VO2max response to exercise training: results from the HERITAGE Family Study. J Appl Physiol 87:1003-1008.

6. Bouchard, C., Daw, E.W., Rice, T., Perusse, L., Gagnon, J., Province, M.A. et al (1998) Familial resemblance for VO2max in the sedentary state: the HERITAGE family study. Med Sci Sports Exerc 30:252-258.

7. Bouchard, C., Malina RM, Perusse L (1997) Genetics of Fitness and Physical Performance. Human Kinetics, Chicago, IL.

8. Bouchard, C., Sarzynski, MA, Rice TK, Kraus WE, Church TS, Sung YJ et al (2011) Genomic predictors of maximal oxygen uptake response to standardized exercise training programs. J Appl Physiol 110:1160-1170.

9. Bouchard, C., Simoneau, J.A., Lortie, G., Boulay, M.R., Marcotte, M., Thibault MC (1986) Genetic effects in human skeletal muscle fiber type distribution and enzyme activities. Can J Physiol Pharmacol 64:12451251.

10. Bray, M.S., Hagberg, J.M., Perusse, L., Rankinen, T., Roth, S.M., Wolfarth, B. et al (2009) The human gene map for performance and health-related fitness phenotypes: the 2006-2007 update. Med Sci Sports Exerc 41:35-73.

11. de la Chapelle, A., Traskelin, A.L., Juvonen, E. (1993) Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci U S A 90:4495-4499.

12. de Moor, M.H., Spector, T.D., Cherkas, L.F., Falchi, M., Hottenga, JJ., Boomsma, D.I. et al (2007) Genome-wide linkage scan for athlete status in 700 British female DZ twin pairs. Twin Res Hum Genet 10:812-820. 14 Doring F, Onur S, Fischer A, Boulay MR, Perusse L, Rankinen Tet al (2010) A common haplotype and the Pro582Ser polymorphism of the hypoxia-inducible factor-1alpha (HIF1A) gene in elite endurance athletes. J Appl Physiol 108:1497-1500.

13. Eynon, N., Hanson, E.D., Lucia, A., Houweling, PJ., Garton, F., North, K.N. et al (2013) Genes for elite power and sprint performance: ACTN3 leads the way. Sports Med.doi: 10.1007/s40279-40013-40059-40274.

14. Hughes, D.C., Day, S.H., Ahmetov, I.I., Williams, A.G. (2011) Genetics of muscle strength and power: Polygenic profile similarity limits skeletal muscle performance. J Sports Sci 29:1425-1434.

15. Lander, E.S. (2011) Initial impact of the sequencing of the human genome. Nature 470:187-197.

16. Ma, F., Yang, Y., Li, X., Zhou, F., Gao, C., Li, M. et al (2013) The association of sport performance with ACE and ACTN3 genetic polymorphisms: a systematic review and meta-analysis. PLoS ONE 8:e54685.

17. Peeters, M.W., Thomis, M.A., Loos, RJ., Derom, C.A., Fagard, R., Claessens, A.L. et al (2007) Heritability of somatotype components: a multivariate analysis. Int J Obes (Lond) 31:1295-1301.

18. Perusse, L., Rankinen, T., Hagberg, J.M., Loos, RJ., Roth, S.M., Sarzynski, MA et al (2013) Advances in exercise, fitness, and performance genomics in 2012. Med Sci Sports Exerc 45:824-831.

19. Pitsiladis, Y., Wang, G., Wolfarth, B., Scott, R., Fuku, N., Mikami, E. et al (2013) Genomics of elite sporting performance: what little we know and necessary advances. Br J Sports Med 47:550-555.

20. Ruiz, J.R., Arteta, D., Buxens, A., Artieda, M., Gomez-Gallego, F., Santiago, C. et al (2010) Can we identify a power-oriented polygenic profile? J Appl Physiol 108:561-566.

21. Ruiz, J.R., Gomez-Gallego, F., Santiago, C., Gonzalez-Freire, M., Verde, Z., Foster, C. et al (2009) Is there an optimum endurance polygenic profile? J Physiol 587:1527-1534.

22. Schuelke, M., Wagner, K.R., Stolz. L.E., Hubner, C., Riebel, T., Komen, W. et al (2004) Myostatin mutation associated with gross muscle hypertrophy in a child. N Engl J Med 350:2682-2688.

23. Simoneau, J.A., Bouchard, C. (1995) Genetic determinism of fiber type proportion in human skeletal muscle. Faseb J 9:1091-1095.

24. Spurway, N., Wackerhage, H. (2006) Genetics and molecular biology of muscle adaptation. Churchill Livingstone Elsevier, London.

25. Wagner, J.K., Royal, C.D. (2012) Field of genes: An investigation of sports-related genetic testing. J Pers Med 2:119-137.

26. Williams, A.G., Folland, J.P. (2008) Similarity of polygenic profiles limits the potential for elite human physical performance. J Physiol 586:113-121.

27. Williams, A.G., Rayson, M.P., Jubb, M., World, M., Woods, D.R., Hayward, M. et al (2000) The ACE gene and muscle performance. Nature 403:614. 15

28. Yang, N., MacArthur, D.G., Gulbin, J.P., Hahn, A.G., Beggs, A.H., Easteal S et al (2003) ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet 73:627-631.

29. Zhai, G., Ding, C., Stankovich, J., Cicuttini, F., Jones,G. (2005) The genetic contribution to longitudinal changes in knee structure and muscle strength: a sibpair study. Arthritis Rheum 52:2830-2834.

Сведения об авторах:

А.Г. Уильямс - Центр геномных исследований физических упражнений, двигательной деятельности и здоровья Институт исследований двигательной деятельности Манчестерский метрополитанский университет г. Кру, Великобритания

С.М. Хеффернан - Центр геномных исследований физических упражнений, двигательной деятельности и здоровья Институт исследований двигательной деятельности Манчестерский метрополитанский университет г. Кру, Великобритания

С.Х. Дэй - Центр геномных исследований физических упражнений, двигательной деятельности и здоровья Институт исследований двигательной деятельности Манчестерский метрополитанский университет г. Кру, Великобритания

Показать полный текст