Genetic association between ACTN3 polymorphism and risk of non-acute ankle sprain

Qi, Bao; Liu, J Q; Liu, G L

doi:10.4238/gmr15048962

Cited by 9 publications

(10 citation statements)

References 23 publications

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“…Focusing on sporting injuries, the general consensus from the studies found is that the X allele increased the risk of ankle injuries (Kim et al, 2014 ; Shang et al, 2015 ; Qi et al, 2016 ) and general sporting injury (Massidda et al, 2017 ). Again, this information could guide training interventions.…”

Section: Discussionmentioning

confidence: 99%

“…Specifically, Deuster et al ( 2013 ) found that XX genotypes were almost three times more likely to be ER patients than R allele carriers. Qi et al ( 2016 ) reported a significantly lower frequency of the RR genotype in a group of ankle sprain patients vs. controls. Kim et al ( 2014 ) found that XX genotypes were 4.7 times more likely to suffer an ankle injury than R allele carriers in their cohort of ballerinas.…”

Section: Actn3 As a Modulator Of Exercise-associated Injury mentioning

confidence: 99%

“…We found six studies examining the association between ACTN3 genotype and sports injury risk (Table 3 ). Three of these examined ankle sprains (Kim et al, 2014 ; Shang et al, 2015 ; Qi et al, 2016 ), with one each for non-contact injuries (Iwao-Koizumi et al, 2015 ), professional soccer players (Massidda et al, 2017 ), and exertional rhabdomyolysis (ER) (Deuster et al, 2013 ). Whilst ER is strongly related to increased CK following exercise (Clarkson and Ebbeling, 1988 ; Brancaccio et al, 2010 ), because it requires medical treatment we classified it as an injury.…”

Section: Actn3 As a Modulator Of Exercise-associated Injury mentioning

confidence: 99%

“…Whilst ER is strongly related to increased CK following exercise (Clarkson and Ebbeling, 1988 ; Brancaccio et al, 2010 ), because it requires medical treatment we classified it as an injury. Of these papers, five reported a protective effect of the R allele and/or the RR genotype against injury (Deuster et al, 2013 ; Kim et al, 2014 ; Shang et al, 2015 ; Qi et al, 2016 ; Massidda et al, 2017 ). Specifically, Deuster et al ( 2013 ) found that XX genotypes were almost three times more likely to be ER patients than R allele carriers.…”

Section: Actn3 As a Modulator Of Exercise-associated Injury mentioning

confidence: 99%

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ACTN3: More than Just a Gene for Speed

2017

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Over the last couple of decades, research has focused on attempting to understand the genetic influence on sports performance. This has led to the identification of a number of candidate genes which may help differentiate between elite and non-elite athletes. One of the most promising genes in that regard is ACTN3, which has commonly been referred to as “a gene for speed”. Recent research has examined the influence of this gene on other performance phenotypes, including exercise adaptation, exercise recovery, and sporting injury risk. In this review, we identified 19 studies exploring these phenotypes. Whilst there was large variation in the results of these studies, as well as extremely heterogeneous cohorts, there is overall a tentative consensus that ACTN3 genotype can impact the phenotypes of interest. In particular, the R allele of a common polymorphism (R577X) is associated with enhanced improvements in strength, protection from eccentric training-induced muscle damage, and sports injury. This illustrates that ACTN3 is more than just a gene for speed, with potentially wide-ranging influence on muscle function, knowledge of which may aid in the future personalization of exercise training programmes.

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Section: Discussionmentioning

confidence: 99%

Section: Actn3 As a Modulator Of Exercise-associated Injury mentioning

confidence: 99%

Section: Actn3 As a Modulator Of Exercise-associated Injury mentioning

confidence: 99%

Section: Actn3 As a Modulator Of Exercise-associated Injury mentioning

confidence: 99%

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ACTN3: More than Just a Gene for Speed

2017

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“…different sports-activities [21] and they have increased passive lower leg stiffness compared to XX counterparts [22] that might predispose to overuse injuries, especially in amateur endurance runners [23]. The most consistent finding has been the positive association between the XX genotype and ankle injuries [24][25][26] that suggests a negative impact of the XX genotype on joint and ligament injuries.…”

Section: Introductionmentioning

confidence: 99%

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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More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

et al. 2018

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A common null polymorphism (rs1815739; R577X) in the gene that codes for α-actinin-3 (ACTN3) has been related to different aspects of exercise performance. Individuals who are homozygous for the X allele are unable to express the α-actinin-3 protein in the muscle as opposed to those with the RX or RR genotype. α-actinin-3 deficiency in the muscle does not result in any disease. However, the different ACTN3 genotypes can modify the functioning of skeletal muscle during exercise through structural, metabolic or signalling changes, as shown in both humans and in the mouse model. Specifically, the ACTN3 RR genotype might favour the ability to generate powerful and forceful muscle contractions. Leading to an overall advantage of the RR genotype for enhanced performance in some speed and power-oriented sports. In addition, RR genotype might also favour the ability to withstand exercise-induced muscle damage, while the beneficial influence of the XX genotype on aerobic exercise performance

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Genetic association between ACTN3 polymorphism and risk of non-acute ankle sprain

Cited by 9 publications

References 23 publications

ACTN3: More than Just a Gene for Speed

ACTN3: More than Just a Gene for Speed

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

More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries

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