Relationship of ACTN3 R577X gene to flexibility and range of motion: Implications in sports injuries
Abstract
The objective was to analyze the evidence focused on the relationship of the ACTN3 R577X gene with flexibility and joint motion ranges and its influence on sports injuries. A systematic review of the literature was carried out applying the guidelines established in the PRISMA statement on the association of the ACTN3 gene with flexibility and joint range of motion. The search on PubMed, Scopus, SPORTDiscus and Google Scholar included original studies available in full text from January 2014. Deficiency of alpha-actinin-3 (Genotype XX) represented significantly greater flexibility and range of motion in most studies. In addition, it is associated with lower muscle stiffness. A relationship between ACTN R577X and muscle stiffness is evident, where the RR genotype would represent a greater risk of injury in sports that require high flexibility. The genetic component could be considered in injury prevention programs.
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References
Alvarez-Romero, J., Voisin, S., Eynon, N., & Hiam, D. (2021). Mapping Robust Genetic Variants Associated with Exercise Responses. International Journal of Sports Medicine, 42(1), 3–18. https://doi.org/10.1055/a-1198-5496
Arroyo Moya, W. (2020). Genética y fútbol: asociación de los polimorfismos genéticos ACTN3 y ACE-I/D en jugadores de fútbol: Revisión literaria (Genetic and soccer: association of ACTN3 and ACE-I/D genetic polymorphisms in soccer players: Literary review). Retos, 39, 1–12. https://doi.org/10.47197/retos.v0i39.79347
Blanchard, A., Ohanian, V., & Critchley, D. (1989). The structure and function of α-actinin. Journal of Muscle Research & Cell Motility, 10(4), 280–289. https://doi.org/10.1007/BF01758424
Bray, M. S., Hagberg, J. M., Perusse, L., Rankinen, T., & Roth, S. M., Wolfarth, B., & Bouchard, C. (2009). The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2006-2007 Update. Medicine & Science in Sports & Exercise, 41(1). https://doi.org/10.1249/MSS.0b013e3181844179
Castro-ferreira, R., Fontes-carvalho, R., Falcão-pires, I., & Leite-moreira, A. F. (2011). Papel de la Titina en la Modulación de la Función Cardíaca y sus Implicaciones Fisiopatológicas. Arquivos Brasileiros de Cardiologia, 96(4), 332–339. https://doi.org/10.1590/S0066-782X2011005000023
Corbin, C. B. (1984). Flexibility. Clinics in Sports Medicine, 3(1), 101–117.
De Moor, M. H. M., Spector, T. D., Cherkas, L. F., Falchi, M., Hottenga, J. J., Boomsma, D. I., & de Geus, E. J. C. (2007). Genome-Wide Linkage Scan for Athlete Status in 700 British Female DZ Twin Pairs. Twin Research and Human Genetics, 10(6), 812–820. https://doi.org/10.1375/twin.10.6.812
Del Coso, J., Moreno, V., Gutiérrez-Hellín, J., Baltazar-Martins, G., Ruíz-Moreno, C., Aguilar-Navarro, M., Lara, B., & Lucía, A. (2019). ACTN3 R577X Genotype and Exercise Phenotypes in Recreational Marathon Runners. Genes, 10(6). https://doi.org/10.3390/genes10060413
Faber, I. R., Bustin, P. M. J., Oosterveld, F. G. J., Elferink-Gemser, M. T., & Nijhuis-Van der Sanden, M. W. G. (2016). Assessing personal talent determinants in young racquet sport players: a systematic review. Journal of Sports Sciences, 34(5), 395–410. https://doi.org/10.1080/02640414.2015.1061201
García-Pinillos, F., Ruiz-Ariza, A., Moreno del Castillo, R., & Latorre-Román, P. Á. (2015). Impact of limited hamstring flexibility on vertical jump, kicking speed, sprint, and agility in young football players. Journal of Sports Sciences, 33(12), 1293–1297. https://doi.org/10.1080/02640414.2015.1022577
Kikuchi, N., Tsuchiya, Y., Nakazato, K., Ishii, N., & Ochi, E. (2018). Effects of the ACTN3 R577X Genotype on the Muscular Strength and Range of Motion Before and After Eccentric Contractions of the Elbow Flexors. International Journal of Sports Medicine, 39(2), 148–153. https://doi.org/10.1055/s-0043-120762
Kikuchi, N., Zempo, H., Fuku, N., Murakami, H., Sakamaki-Sunaga, M., Okamoto, T., Nakazato, K., & Miyachi, M. (2017). Association between ACTN3 R577X Polymorphism and Trunk Flexibility in 2 Different Cohorts. International Journal of Sports Medicine, 38(5), 402–406. https://doi.org/10.1055/s-0042-118649
Kim, J. H., Jung, E. S., Kim, C.-H., Youn, H., & Kim, H. R. (2014). Genetic associations of body composition, flexibility and injury risk with ACE, ACTN3 and COL5A1 polymorphisms in Korean ballerinas. Journal of Exercise Nutrition and Biochemistry, 18(2), 205–214. https://doi.org/10.5717/jenb.2014.18.2.205
Law, M., Stewart, D., Pollock, N., Letts, L., Bosch, J., & Westmorland, M. (1998). Critical Review Form - Quantitative Studies. McMaster University. https://healthsci.mcmaster.ca/srs/research/evidence-based-practice-research-group
Ma, F., Yang, Y., Li, X., Zhou, F., Gao, C., Li, M., & Gao, L. (2013). The association of sport performance with ACE and ACTN3 genetic polymorphisms: a systematic review and meta-analysis. PloS One, 8(1), e54685. https://doi.org/10.1371/journal.pone.0054685
Massidda, M., Miyamoto, N., Beckley, S., Kikuchi, N., & Fuku, N. (2019). Chapter Thirteen - Genetics of flexibility (D. Barh & I. I. B. T.-S. Ahmetov Exercise, and Nutritional Genomics, Eds.; pp. 273–293). Academic Press. https://doi.org/https://doi.org/10.1016/B978-0-12-816193-7.00013-0
Mills, M., Yang, N., Weinberger, R., vander Woude, D. L., Beggs, A. H., Easteal, S., & North, K. (2001). Differential expression of the actin-binding proteins, α-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. Human Molecular Genetics, 10(13), 1335–1346. https://doi.org/10.1093/hmg/10.13.1335
Miyamoto, N., Miyamoto-Mikami, E., Hirata, K., Kimura, N., & Fuku, N. (2018). Association analysis of the ACTN3 R577X polymorphism with passive muscle stiffness and muscle strain injury. Scandinavian Journal of Medicine and Science in Sports, 28(3), 1209–1214. https://doi.org/10.1111/sms.12994
Miyamoto-Mikami, E., Zempo, H., Fuku, N., Kikuchi, N., Miyachi, M., & Murakami, H. (2018). Heritability estimates of endurance-related phenotypes: A systematic review and meta-analysis. Scandinavian Journal of Medicine & Science in Sports, 28(3), 834–845. https://doi.org/10.1111/sms.12958
Moher, D., Liberati, A., Tetzlaff, J., & Altman, D. G. (2009). Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. BMJ, 339, b2535. https://doi.org/10.1136/bmj.b2535
Morucci, G., Punzi, T., Innocenti, G., Gulisano, M., Ceroti, M., & Pacini, S. (2014). New Frontiers in Sport Training: Genetics and Artistic Gymnastics. The Journal of Strength & Conditioning Research, 28(2). https://doi.org/10.1519/JSC.0b013e31829aad65
Pickering, C., & Kiely, J. (2017). ACTN3: More than Just a Gene for Speed. Frontiers in Physiology, 8, 1080. https://doi.org/10.3389/fphys.2017.01080
Seto, J. T., Lek, M., Quinlan, K. G. R., Houweling, P. J., Zheng, X. F., Garton, F., MacArthur, D. G., Raftery, J. M., Garvey, S. M., Hauser, M. A., Yang, N., Head, S. I., & North, K. N. (2011). Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling. Human Molecular Genetics, 20(15), 2914–2927. https://doi.org/10.1093/hmg/ddr196
Tharabenjasin, P., Pabalan, N., & Jarjanazi, H. (2019). Association of the ACTN3 R577X (rs1815739) polymorphism with elite power sports: A meta-analysis. PloS One, 14(5), e0217390. https://doi.org/10.1371/journal.pone.0217390
Toursel, T., Stevens, L., Granzier, H., & Mounier, Y. (2002). Passive tension of rat skeletal soleus muscle fibers: effects of unloading conditions. Journal of Applied Physiology, 92(4), 1465–1472. https://doi.org/10.1152/japplphysiol.00621.2001
Villaquiran-Hurtado, A., Molano-Tobar, N. J., Portilla-Dorado, E., & Tello, A. (2020). Flexibilidad, equilibrio dinámico y estabilidad del core para la prevención de lesiones en deportistas universitarios. Universidad y Salud, 22(2), 148–156. https://doi.org/10.22267/rus.202202.186
Yang, N., MacArthur, D. G., Gulbin, J. P., Hahn, A. G., Beggs, A. H., Easteal, S., & North, K. (2003). ACTN3 genotype is associated with human elite athletic performance. The American Journal of Human Genetics, 73(3), 627–631. https://doi.org/10.1086/377590
Zempo, H., Miyamoto-Mikami, E., Kikuchi, N., Fuku, N., Miyachi, M., & Murakami, H. (2017). Heritability estimates of muscle strength-related phenotypes: A systematic review and meta-analysis. Scandinavian Journal of Medicine & Science in Sports, 27(12), 1537–1546. https://doi.org/10.1111/sms.12804
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1. The Publication Service of the University of Murcia (the publisher) has the Publication Rights (Copyright) to the published papers and works, and favors and permits the reusing of the same under the license indicated in point 2.
© Servicio de Publicaciones, Universidad de Murcia, 2013
2. The papers and works are to be published in the digital edition of the Journal under the license Creative Commons Reconocimiento-No Comercial-Sin Obra Derivada 3.0 España (legal text). The copying, using, spreading, transmitting and publicly displaying of the papers, works or publication are permitted as long as: i) the authors and original sources (Journal, publisher and URL of the publication) are quoted; ii) it is not used for commercial benefit; iii) the existence and specifications of this users license are mentioned.
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