Effect of <i>ACTN3</i> R577X Genotype on Injury Epidemiology in Elite Endurance Runners

The p.R577X polymorphism (rs1815739) in the <i>ACTN3</i> gene causes individuals with the <i>ACTN3</i> XX genotype to be deficient in functional α-actinin-3. Previous investigations have found that XX athletes are more prone to suffer non-contact muscle injuries. This investi...

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Main Authors: Jorge Gutiérrez-Hellín, Gabriel Baltazar-Martins, Millán Aguilar-Navarro, Carlos Ruiz-Moreno, Jesús Oliván, Juan Del Coso
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/12/1/76
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author Jorge Gutiérrez-Hellín
Gabriel Baltazar-Martins
Millán Aguilar-Navarro
Carlos Ruiz-Moreno
Jesús Oliván
Juan Del Coso
author_facet Jorge Gutiérrez-Hellín
Gabriel Baltazar-Martins
Millán Aguilar-Navarro
Carlos Ruiz-Moreno
Jesús Oliván
Juan Del Coso
author_sort Jorge Gutiérrez-Hellín
collection DOAJ
description The p.R577X polymorphism (rs1815739) in the <i>ACTN3</i> gene causes individuals with the <i>ACTN3</i> XX genotype to be deficient in functional α-actinin-3. Previous investigations have found that XX athletes are more prone to suffer non-contact muscle injuries. This investigation aimed to determine the influence of the <i>ACTN3</i> R577X polymorphism in the injury epidemiology of elite endurance athletes. Using a cross-sectional experiment, the epidemiology of running-related injuries was recorded for one season in a group of 89 Spanish elite endurance runners. <i>ACTN3</i> R577X genotype was obtained for each athlete using genomic DNA samples. From the study sample, 42.7% of athletes had the RR genotype, 39.3% had the RX genotype, and 18.0% had the XX genotype. A total of 96 injuries were recorded in 57 athletes. Injury incidence was higher in RR runners (3.2 injuries/1000 h of running) than in RX (2.0 injuries/1000 h) and XX (2.2 injuries/1000 h; <i>p</i> = 0.030) runners. RR runners had a higher proportion of injuries located in the Achilles tendon, RX runners had a higher proportion of injuries located in the knee, and XX runners had a higher proportion of injuries located in the groin (<i>p</i> = 0.025). The <i>ACTN3</i> genotype did not affect the mode of onset, the severity, or the type of injury. The <i>ACTN3</i> genotype slightly affected the injury epidemiology of elite endurance athletes with a higher injury rate in RR athletes and differences in injury location. However, elite <i>ACTN3</i> XX endurance runners were not more prone to muscle-type injuries.
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spelling doaj.art-e32c701c27824de48539a972dcd6d7ec2023-12-03T12:31:24ZengMDPI AGGenes2073-44252021-01-011217610.3390/genes12010076Effect of <i>ACTN3</i> R577X Genotype on Injury Epidemiology in Elite Endurance RunnersJorge Gutiérrez-Hellín0Gabriel Baltazar-Martins1Millán Aguilar-Navarro2Carlos Ruiz-Moreno3Jesús Oliván4Juan Del Coso5Faculty of Health Sciences, Francisco de Vitoria University, 28223 Pozuelo de Alarcón, SpainExercise Physiology Laboratory, Camilo José Cela University, 28692 Villanueva de la Cañada, SpainFaculty of Health Sciences, Francisco de Vitoria University, 28223 Pozuelo de Alarcón, SpainExercise Physiology Laboratory, Camilo José Cela University, 28692 Villanueva de la Cañada, SpainFaculty of Physical Activity and Sport Sciences, Technical University of Madrid, 28040 Madrid, SpainCentre for Sport Studies, Rey Juan Carlos University, 28933 Fuenlabrada, SpainThe p.R577X polymorphism (rs1815739) in the <i>ACTN3</i> gene causes individuals with the <i>ACTN3</i> XX genotype to be deficient in functional α-actinin-3. Previous investigations have found that XX athletes are more prone to suffer non-contact muscle injuries. This investigation aimed to determine the influence of the <i>ACTN3</i> R577X polymorphism in the injury epidemiology of elite endurance athletes. Using a cross-sectional experiment, the epidemiology of running-related injuries was recorded for one season in a group of 89 Spanish elite endurance runners. <i>ACTN3</i> R577X genotype was obtained for each athlete using genomic DNA samples. From the study sample, 42.7% of athletes had the RR genotype, 39.3% had the RX genotype, and 18.0% had the XX genotype. A total of 96 injuries were recorded in 57 athletes. Injury incidence was higher in RR runners (3.2 injuries/1000 h of running) than in RX (2.0 injuries/1000 h) and XX (2.2 injuries/1000 h; <i>p</i> = 0.030) runners. RR runners had a higher proportion of injuries located in the Achilles tendon, RX runners had a higher proportion of injuries located in the knee, and XX runners had a higher proportion of injuries located in the groin (<i>p</i> = 0.025). The <i>ACTN3</i> genotype did not affect the mode of onset, the severity, or the type of injury. The <i>ACTN3</i> genotype slightly affected the injury epidemiology of elite endurance athletes with a higher injury rate in RR athletes and differences in injury location. However, elite <i>ACTN3</i> XX endurance runners were not more prone to muscle-type injuries.https://www.mdpi.com/2073-4425/12/1/76athletic performanceexercise-related injurysingle nucleotide polymorphismtrack and field athleteα-actinin-3 deficiency
spellingShingle Jorge Gutiérrez-Hellín
Gabriel Baltazar-Martins
Millán Aguilar-Navarro
Carlos Ruiz-Moreno
Jesús Oliván
Juan Del Coso
Effect of <i>ACTN3</i> R577X Genotype on Injury Epidemiology in Elite Endurance Runners
Genes
athletic performance
exercise-related injury
single nucleotide polymorphism
track and field athlete
α-actinin-3 deficiency
title Effect of <i>ACTN3</i> R577X Genotype on Injury Epidemiology in Elite Endurance Runners
title_full Effect of <i>ACTN3</i> R577X Genotype on Injury Epidemiology in Elite Endurance Runners
title_fullStr Effect of <i>ACTN3</i> R577X Genotype on Injury Epidemiology in Elite Endurance Runners
title_full_unstemmed Effect of <i>ACTN3</i> R577X Genotype on Injury Epidemiology in Elite Endurance Runners
title_short Effect of <i>ACTN3</i> R577X Genotype on Injury Epidemiology in Elite Endurance Runners
title_sort effect of i actn3 i r577x genotype on injury epidemiology in elite endurance runners
topic athletic performance
exercise-related injury
single nucleotide polymorphism
track and field athlete
α-actinin-3 deficiency
url https://www.mdpi.com/2073-4425/12/1/76
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