Effect of ACTN3 Genotype on Sports Performance, Exercise-Induced Muscle Damage, and Injury Epidemiology

Baltazar‐Martins, Gabriel; Gutiérrez-Hellín, Jorge; Aguilar-Navarro, Millán; Ruíz-Moreno, Carlos; Moreno-Pérez, Víctor; López-Samanés, Álvaro; Domínguez, Raúl; Coso, Juan Del

doi:10.3390/sports8070099

Cited by 27 publications

(22 citation statements)

References 80 publications

(99 reference statements)

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“…Independent studies, however, failed to demonstrate a significant association between the XX variant and extreme endurance performance [46][47][48]. Finally, this study does not demonstrate the influence of the ACE and ACTN3 genes on the risk of injury in athletes.…”

Section: Accepted Manuscriptcontrasting

confidence: 75%

Genetic Profile in Genes Associated with Sports Injuries in Elite Endurance Athletes

2022

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Injuries are a complex trait that can stem from the interaction of several genes. The aim of this research was to examine the relationship between muscle performance-related genes and overuse injury risk in elite endurance athletes, and to examine the feasibility of determining a total genotype score that significantly correlates with injury. A cohort of 100 elite endurance athletes (50 male and 50 female) was selected. AMPD1 (rs17602729), ACE (rs4646994), ACTN3 (rs1815739), CKM (rs8111989) and MLCK ([rs2849757] and [rs2700352]) polymorphisms was genotyped by using real-time polymerase chain reaction (real time-PCR). Injury characteristics during the athletic season were classified following the Consensus Statement for injuries evaluation. The mean total genotype score (TGS) in non-injured athletes (68.263±13.197 arbitrary units [a.u.]) were different from that of injured athletes (50.037±17.293 a.u., p<0.001). The distribution of allelic frequencies in the AMPD1 polymorphism was also different between non-injured and injured athletes (p<0.001). There was a TGS cut-off point (59.085 a.u.) to discriminate non-injured from injured athletes with an Odds Ratio of 7.400 (95%CI 2.548-21.495, p<0.001). TGS analysis appears to correlate with elite endurance athletes at higher risk for injury. Further study may help to develop this as one potential tool to help predict injury risk in this population.

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Section: Accepted Manuscriptcontrasting

confidence: 75%

Genetic Profile in Genes Associated with Sports Injuries in Elite Endurance Athletes

2022

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“…The presence of α-actinin-3 has a globally beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity, related to increased sprint performance. Independent studies, however, failed to demonstrate a significant association between this ACTN3 polymorphism and ultra-endurance performance (Lucia et al 2006 ; Houweling et al 2018 ; Baltazar-Martins et al 2020 ).…”

Section: Sports Performancementioning

confidence: 99%

Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing

et al. 2022

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The impact of genetics on physiology and sports performance is one of the most debated research aspects in sports sciences. Nearly 200 genetic polymorphisms have been found to influence sports performance traits, and over 20 polymorphisms may condition the status of the elite athlete. However, with the current evidence, it is certainly too early a stage to determine how to use genotyping as a tool for predicting exercise/sports performance or improving current methods of training. Research on this topic presents methodological limitations such as the lack of measurement of valid exercise performance phenotypes that make the study results difficult to interpret. Additionally, many studies present an insufficient cohort of athletes, or their classification as elite is dubious, which may introduce expectancy effects. Finally, the assessment of a progressively higher number of polymorphisms in the studies and the introduction of new analysis tools, such as the total genotype score (TGS) and genome-wide association studies (GWAS), have produced a considerable advance in the power of the analyses and a change from the study of single variants to determine pathways and systems associated with performance. The purpose of the present study was to comprehensively review evidence on the impact of genetics on endurance- and power-based exercise performance to clearly determine the potential utility of genotyping for detecting sports talent, enhancing training, or preventing exercise-related injuries, and to present an overview of recent research that has attempted to correct the methodological issues found in previous investigations.

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“…In sport, the ACTN3 R577X polymorphism is one of the most investigated genetic variations, as several investigations have found that XX athletes are underrepresented in elite power-oriented athletes [ 2 , 10 , 11 ]. Although the exact phenotype(s) that cause(s) the underrepresentation of XX in power sport are/is not fully identified, the lower physical performance in sprint activities [ 12 ], the higher values of exercise-induced muscle damage [ 13 ] and a higher tendency for muscle injuries in XX, in comparison to RR athletes [ 14 ] may partially contribute.…”

Section: Introductionmentioning

confidence: 99%

Association of the ACTN3 rs1815739 Polymorphism with Physical Performance and Injury Incidence in Professional Women Football Players

Coso

Rodas

Buil³

et al. 2022

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The p.R577X polymorphism (rs1815739) in the ACTN3 gene causes individuals with the 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, in comparison with RR and RX athletes who produce a functional α-actinin-3 in their fast-twitch fibers. This investigation aimed to determine the influence of the ACTN3 R577X polymorphism on physical performance and injury incidence of players competing in the women’s Spanish first division of football (soccer). Using a cross-sectional experiment, football-specific performance and epidemiology of non-contact football-related injuries were recorded in a group of 191 professional football players. ACTN3 R577X genotype was obtained for each player using genomic DNA samples obtained through buccal swabs. A battery of physical tests, including a countermovement jump, a 20 m sprint test, the sit-and-reach test and ankle dorsiflexion, were performed during the preseason. Injury incidence and characteristics of non-contact injuries were obtained according to the International Olympic Committee (IOC) statement for one season. From the study sample, 28.3% of players had the RR genotype, 52.9% had the RX genotype, and 18.8% had the XX genotype. Differences among genotypes were identified with one-way analysis of variance (numerical variables) or chi-square tests (categorical variables). Jump height (p = 0.087), sprint time (p = 0.210), sit-and-reach distance (p = 0.361), and dorsiflexion in the right (p = 0.550) and left ankle (p = 0.992) were similar in RR, RX, and XX football players. A total of 356 non-contact injuries were recorded in 144 football players while the remaining 47 did not sustain any non-contact injuries during the season. Injury incidence was 10.4 ± 8.6, 8.2 ± 5.7, and 8.9 ± 5.3 injuries per/1000 h of football exposure, without differences among genotypes (p = 0.222). Injury rates during training (from 3.6 ± 3.7 to 4.8 ± 2.1 injuries per/1000 h of training exposure, p = 0.100) and match (from 47.8 ± 9.5 to 54.1 ± 6.3 injuries per/1000 h of match exposure, p = 0.209) were also similar in RR, RX, and XX football players. The ACTN3 genotype did not affect the mode of onset, the time needed to return to play, the type of injury, or the distribution of body locations of the injuries. In summary, women football players with different genotypes of the p.R577X ACTN3 polymorphism had similar values of football-specific performance and injury incidence. From a practical perspective, the ACTN3 genotyping may not be useful to predict performance or injury incidence in professional women football players.

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Effect of ACTN3 Genotype on Sports Performance, Exercise-Induced Muscle Damage, and Injury Epidemiology

Cited by 27 publications

References 80 publications

Genetic Profile in Genes Associated with Sports Injuries in Elite Endurance Athletes

Genetic Profile in Genes Associated with Sports Injuries in Elite Endurance Athletes

Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing

Association of the ACTN3 rs1815739 Polymorphism with Physical Performance and Injury Incidence in Professional Women Football Players

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