ACTN3 R577X Polymorphism Is Associated With the Incidence and Severity of Injuries in Professional Football Players

Massidda, Myosotis; Voisin, Sarah; Culigioni, Claudia; Piras, Francesco; Cugia, Paolo; Yan, Xu; Eynon, Nir; Calò, Carla Maria

doi:10.1097/jsm.0000000000000487

Cited by 59 publications

(92 citation statements)

References 29 publications

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“…In this case, the likelihood of sustaining a muscle injury was higher in XX endurance runners than in their RR and RX counterparts (Fig 1). The same findings were observed for sudden-onset injuries in elite soccer players [19,20]. This outcome may suggest a lower capacity of α-actinin-3 deficient individuals (i.e., XX genotype) to resist muscle strain during sport-related activities.…”

Section: Discussionsupporting

confidence: 74%

“…In soccer, players with the XX genotype were more prone to suffer non-contact musculoskeletal soft-tissue injuries than players with the RR or the RX genotype [19,20], although this association has not been found in runners. In contrast, other investigations have found that Rallele athletes had an increased likelihood of suffering non-contact muscle injuries during Jose Cela University.…”

Section: Introductionmentioning

confidence: 92%

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Influence of the ACTN3 R577X genotype on the injury epidemiology of marathon runners

et al. 2020

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A common single nucleotide polymorphism in the ACTN3 gene might result in the complete deficiency of α-actinin-3 (i.e., XX genotype). It has been found that ACTN3 XX individuals have several traits related to lessened muscle performance. This study aimed to determine the influence, if any, of ACTN3 genotypes on injury incidence of marathoners during the year preceding to participating in a competitive marathon race. Using a cross-sectional experimental design, the type and conditions of sports injuries were documented for one year in a group of 139 marathoners. Injuries were recorded following a consensus statement on injuries in Athletics. Afterward, ACTN3 genotyping was performed, and injury epidemiology was compared among RR, RX, and XX genotypes. The distribution of the RR/RX/XX genotypes was 28.8/42.8/23.5%, respectively. A total of 67 injuries were recorded. The frequency of marathoners that reported any injury during the previous year was not different across the genotypes (55.0/38.8/40.6%, P = 0.241). Although the overall injury incidence was not different among genotypes (2.78/1.65/1.94 injuries/1000 h of running, P = 0.084), the likelihood of suffering an injury was higher in RR than in RX (OR = 1.93: 95%CI = 0.87-4.30), and higher than in XX (OR = 1.79: 0.70-4.58). There was no difference in the conditions, severity, body location, time of year, or leading cause of injury among genotypes. However, XX presented a higher frequency of sudden-onset injuries (P = 0.024), and the OR for muscle-type injuries was 2.0 (0.51-7.79) times higher compared to RR runners. Although XX marathoners did not have a higher overall incidence of injury, the OR in these runners for muscle-type injuries was superior to RR and RX runners. The likelihood of suffering a muscle injury, especially with a sudden-onset, was twice in XX than in RR endurance runners.

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Section: Discussionsupporting

confidence: 74%

Section: Introductionmentioning

confidence: 92%

Influence of the ACTN3 R577X genotype on the injury epidemiology of marathon runners

et al. 2020

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“…For athletes whose genetic profile has been determined, the training program or recovery periods throughout a competition could be adapted [3,16,19,43]. A higher susceptibility to muscle microtrauma in humans after eccentric exercise has been identified in ACTN3-XX individuals [18], including football players [21,30] This ACTN3-XX propensity to muscle stress has not been confirmed by other studies [6], particularly those involving an animal model [5].…”

Section: Discussionmentioning

confidence: 99%

“…These studies suggest that identifying the genetic profile of athletes, as performed in the present study, should be considered a benefit to the sports environment, especially because recent scientific evidence supports that the ACTN3 R577X polymorphism is associated with the incidence and severity of muscle injuries in professional football players. Players with the ACTN3 577XX genotype have higher odds of having muscle injuries than their RR counterparts [21].…”

Section: Introductionmentioning

confidence: 94%

Evidence for a Role of ACTN3 R577X Polymorphism in Football Player’s Career Progression

et al. 2018

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The aim was to investigate a possible role of the ACTN3 R577X polymorphism in a Brazilian football player’s career progression. 2 questions were formulated: 1. Does ACTN3 polymorphism affect the probability of an individual being a professional football player? 2. Does this polymorphism affect the progression of the athlete throughout his career? The study included 353 players from first division Brazilian football clubs in the following categories: under-14 (U-14), U-15, U-17, U-20, and professional (PRO). The control group (CON) was composed of 100 healthy non-athletes. The chi-squared test was used to assess differences between the allele and genotype frequencies. Comparing football categories, the XX genotype was less frequent among professional players than in the U-20 (p<0.05) or the U-15 category (p<0.05). The RX genotype also presented more frequently in the PRO category than the U-14 category (p<0.05). Moreover, a trend towards a higher frequency of the RX genotype and a lower frequency of the XX genotype was observed in the professional category compared to U-20. These results suggest that the genotype in the ACTN3 polymorphism affects the probability of a football player progressing throughout his career and becoming professional, meaning that playing football selects against the ACTN3 XX genotype.

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“…Actn3 KO mice, that show an increased susceptibility to damage following stretch induced muscle damage (Seto et al, 2011). Similar studies have examined the effects of ACTN3 R577X in athletes (Myosotis et al, 2017) and the general population. However, further research is currently ongoing to assess the role of -actinin-3 in muscle repair and remodeling.…”

Section: Mechanistic Insights From the Mouse Model Of -Actinin-3 Defimentioning

confidence: 96%

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease

et al. 2018

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A common null polymorphism in the ACTN3 gene (rs1815739:C>T) results in replacement of an arginine (R) with a premature stop codon (X) at amino acid 577 in the fast muscle protein α‐actinin‐3. The ACTN3 p.Arg577Ter allele (aka p.R577* or R577X) has undergone positive selection, with an increase in the X allele frequency as modern humans migrated out of Africa into the colder, less species‐rich Eurasian climates suggesting that the absence of α‐actinin‐3 may be beneficial in these conditions. Approximately 1.5 billion people worldwide are completely deficient in α‐actinin‐3. While the absence of α‐actinin‐3 influences skeletal muscle function and metabolism this does not result in overt muscle disease. α‐Actinin‐3 deficiency (ACTN3 XX genotype) is constantly underrepresented in sprint/power performance athletes. However, recent findings from our group and others suggest that the ACTN3 R577X genotype plays a role beyond athletic performance with effects observed in ageing, bone health, and inherited muscle disorders such as McArdle disease and Duchenne muscle dystrophy. In this review, we provide an update on the current knowledge regarding the influence of ACTN3 R577X on skeletal muscle function and its potential biological and clinical implications. We also outline future research directions to explore the role of α‐actinin‐3 in healthy and diseased populations.

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ACTN3 R577X Polymorphism Is Associated With the Incidence and Severity of Injuries in Professional Football Players

Abstract: Discovering the complex relationship between gene variants and muscle injuries may assist coaches, physiologists, and the medical community to development tailored injury prevention program for football players, which could provide a new edge for successful competition.

Cited by 59 publications

References 29 publications

Influence of the ACTN3 R577X genotype on the injury epidemiology of marathon runners

Influence of the ACTN3 R577X genotype on the injury epidemiology of marathon runners

Evidence for a Role of ACTN3 R577X Polymorphism in Football Player’s Career Progression

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease

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