Association between ACTN3 R577X genotype and risk of non-contact injury in trained athletes: A systematic review

Zouhal, Hassane; Coso, Juan Del; Jayavel, Ayyappan; Tourny, Claire; Ravé, Guillaume; Jebabli, Nidhal; Clark, Cain C. T.; Barthélémy, Benjamin; Hackney, Anthony C.; Abderrahman, Abderraouf Ben

doi:10.1016/j.jshs.2021.07.003

Cited by 11 publications

(13 citation statements)

References 49 publications

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“…The c.1729C>T polymorphism of the ACTN3 gene is a highly conserved component of the contractile machinery in fast skeletal muscle fibers in mammals ( Lippi et al, 2010 ; Eynon, Hanson, Lucia, Houweling, Garton, North and Bishop 2013 ), with the CC genotype present among elite power athletes, whereas the TT genotype, associated with complete ACTN3 deficiency, is more prevalent among elite endurance athletes, such as marathon runners and cyclists ( Yang et al, 2003 ). The ACTN3 gene has been extensively studied and associated with injuries in elite athletes ( Del Coso et al, 2019 ; Zouhal et al, 2021 ) in athletics ( Moreno et al, 2020 ; Gutiérrez-Hellín et al, 2021 ), ballerinas ( Kim et al, 2014 ) and especially in soccer ( Coelho, Pimenta, Rosse, de Castro, Becker, de Oliveira, Carvalho and Garcia 2018 ; Clos, Pruna, Lundblad, Artells and Esquirol Caussa 2019 ; Massidda, Voisin, Culigioni, Piras, Cugia, Yan, Eynon and Calò 2019 ; Rodas et al, 2021 ). Although these studies suggest that the TT genotype (erroneously referred to as the XX genotype ( Dunnen et al, 2016 )) is associated with an increased risk of injury, there is still conflicting data, and this gene has not been shown to have a direct link to sports injuries.…”

Section: Discussionmentioning

confidence: 99%

Genetic profile in genes associated with muscle injuries and injury etiology in professional soccer players

et al. 2022

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Many causes define injuries in professional soccer players. In recent years, the study of genetics in association with injuries has been of great interest. The purpose of this study was to examine the relationship between muscle injury-related genes, injury risk and injury etiology in professional soccer players. In a cross-sectional cohort study, one hundred and twenty-two male professional football players were recruited. AMPD1 (rs17602729), ACE (rs4646994), ACTN3 (rs1815739), CKM (rs8111989) and MLCK (rs2849757 and rs2700352) polymorphisms were genotyped by using Single Nucleotide Primer Extension (SNPE). The combined influence of the six polymorphisms studied was calculated using a total genotype score (TGS). A genotype score (GS) of 2 was assigned to the “protective” genotype for injuries, a GS of 1 was assigned to the heterozygous genotype while a GS of 0 was assigned to the “worst” genotype. Injury characteristics and etiology during the 2021/2022 season were classified following a Consensus Statement for injuries recording. The distribution of allelic frequencies in the AMPD1 and MLCK c.37885C>A polymorphisms were different between non-injured and injured soccer players (p < 0.001 and p = 0.003, respectively). The mean total genotype score (TGS) in non-injured soccer players (57.18 ± 14.43 arbitrary units [a.u.]) was different from that of injured soccer players (51.71 ± 12.82 a.u., p = 0.034). There was a TGS cut-off point (45.83 a.u.) to discriminate non-injured from injured soccer players. Players with a TGS beyond this cut-off had an odds ratio of 1.91 (95%CI: 1.14–2.91; p = 0.022) to suffer an injury when compared with players with lower TGS. In conclusion, TGS analysis in muscle injury-related genes presented a relationship with professional soccer players at increased risk of injury. Future studies will help to develop this TGS as a potential tool to predict injury risk and perform prevention methodology in this cohort of football players.

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Section: Discussionmentioning

confidence: 99%

Genetic profile in genes associated with muscle injuries and injury etiology in professional soccer players

et al. 2022

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“…The assumption that the ACTN3 XX genotype may produce a deleterious effect on sports performance is supported by several investigations that have reported some potentially negative phenotypes in XX athletes, when compared to RR or R-allele carriers (see these reviews for a more profound analysis [ 1 , 2 , 14 ]). Briefly, XX athletes may have less muscle strength [ 30 ]; lower sprint capacity [ 12 ]; higher levels of muscle damage after endurance activities, such as marathons [ 8 ] and half Ironman events [ 31 ] or eccentric training [ 32 ]; and higher probability of muscle injury in team sports [ 18 , 19 ] and endurance sports [ 33 ].…”

Section: Discussionmentioning

confidence: 99%

“…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. Among the power-oriented sports, football (soccer) is an ideal scenario to investigate the ACTN3 R577X polymorphism as football is a “power/’explosive” sport and is characterized by the repetition of high-intensity actions, such as sudden accelerations, decelerations, sprints, changes of direction, jumping, and landings [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

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

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Rodas

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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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“…Future studies in a larger sample and with more complex genetic testing (i. e., more genetic variants to produce the calculation of a total genotype score) will be necessary to better understand the role of genetics in injury epidemiology in football. Last, the current investigation includes the study of only one polymorphism in the CKM gene while there are previous investigations suggesting that variations in other genes such as the ACTN3 , ACE or MCT1 12 13 14 15 can affect injury incidence while variants in the IGF2, CCL2 and ELN may affect the degree of injury and the recovery time 28 . Therefore, future investigation with a polygenic approach may be helpful to understand if the possession of several genotypes associated to a higher injury incidence produces an additive or synergistic effect in the likelihood of injury in elite football players .…”

Section: Discussionmentioning

confidence: 99%

“…In this context, the GG or G allele may offer some benefits as they may be associated with a higher performance in short-term all-out contractions. In fact, there are previous investigations indicating that some polymorphisms, such as the CC genotype in the ACTN3 rs1815739 polymorphism (also known as the c.1729C > T) [12,13], the II in the ACE rs4341 polymorphism (also known as the I/D) [14] or the AA in the MCT1 rs1049434 polymorphism (also known as the c.1470 A > T) [15] are associated with higher muscle injury incidence in elite football players. These latter studies sustain the idea that genotype variations in one single nucleotide polymorphism may induce a higher likelihood of muscle injury in high-performance football players.…”

Section: Association Of the Ckm Rs8111989 Polymorphism With Injury Ep...mentioning

confidence: 99%

Association of the CKM rs8111989 Polymorphism with Injury Epidemiology in Football Players

et al. 2022

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The influence of the rs8111989 polymorphism in the muscle-specific creatine kinase gene (CKM) on injury incidence is unknown. The aim was to investigate CKM polymorphism on injury incidence in high-performance football players. A cohort of 109 high-performance players was genotyped by using saliva samples. Injury incidence was similar in players with the GG, GA, and AA genotypes and did not modify incidence during training or match exposure (p=0.583 and p=0.737 respectively). GG players had a higher frequency of slight-severity injuries (60.0 vs. 10.2 vs. 24.2%, p<0.001), while GA players had a higher frequency of severe injuries (16.7 vs. 30.8 vs. 10.0%, p=0.021). GA players also had a higher frequency of muscle tears (34.8 vs. 59.0 vs. 20.0%, p<0.001). Muscle contracture was a more frequent injury in players with the GG genotype (40.0%, p<0.001). G allele carriers had lower frequencies of gradual-onset injuries (4.1 vs. 16.7%, p=0.035) and recurrent injuries (6.1 vs. 16.7%, p=0.003) than AA players. A allele carriers had higher frequency of severe injuries (10.0 vs. 21.9%, p=0.044) than GG players. Genotypes in the CKM rs8111989 polymorphism did not affect injury incidence in high-performance football players. Players with the GA genotype were more prone to severe injuries and muscle tears when compared to GG and AA players.

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Association between ACTN3 R577X genotype and risk of non-contact injury in trained athletes: A systematic review

Cited by 11 publications

References 49 publications

Genetic profile in genes associated with muscle injuries and injury etiology in professional soccer players

Genetic profile in genes associated with muscle injuries and injury etiology in professional soccer players

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

Association of the CKM rs8111989 Polymorphism with Injury Epidemiology in Football Players

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