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Genetic markers and explosive leg-muscle strength in elite Italian soccer players
Abstract
The aim of the present paper was to investigate the relationships between polymorphisms in ACTN3, ACE and BDKRB2 genes, soccer performance, and explosive leg-muscle strength in Italian soccer players.
We examined 42 top-level Italian soccer players (S) and 106 sedentary healthy Italians, as a control group (C). χ2 test was used to look for the difference in genotype distribution of ACTN3, ACE and BDKRB2 between groups. The data were evaluated by forward stepwise multiple regression analysis with the Squat Jump (SJ) and Counter Movement Jump (CMJ) as dependent variables, as well as competition level (CL), ACTN-3, ACE and BDKRB2 genotypes as independent variables.
No significant difference was found between groups for ACE, ACTN-3 and BDKRB2 genotype distributions. Forward stepwise multiple regression analysis suggests a significant relationship between a) SJ vs. CL, ACE, and ACTN-3 and b) CMJ vs. CL. For SJ, the multivariate model combining genotypic data and competition level significantly predicted explosive leg-muscle strength in soccer players and variance explained by the function was 23.92%.
An interaction of two polymorphisms (ACE and ACTN-3) might be able to discriminate quantitative traits crucial for the elite soccer performance, however the contribution of genetic factors to soccer performance is not so high.
... The studies that applied strength-related gene analysis are outlined in Table 2. All studies involved male football players and included the ACTN3 polymorphism [23][24][25][26]. Two studies also included the ACE and BDKRB2 genes [24,25]. ...
... All studies involved male football players and included the ACTN3 polymorphism [23][24][25][26]. Two studies also included the ACE and BDKRB2 genes [24,25]. From the 4 studies that investigated strength, 1 compared the effects of eccentric training on muscle damage in the ACTN3 genotypes [26], 2 assessed leg power and vertical jump performance by polymorphisms [24,25], and 1 compared maximal strength between genotypes [23]. ...
... Two studies also included the ACE and BDKRB2 genes [24,25]. From the 4 studies that investigated strength, 1 compared the effects of eccentric training on muscle damage in the ACTN3 genotypes [26], 2 assessed leg power and vertical jump performance by polymorphisms [24,25], and 1 compared maximal strength between genotypes [23]. ...
Purpose. To systematically review and organise the available literature devoted to the topic of genetics and performance in football. Methods. A systematic search was conducted in accordance with the PRISMA guidelines in Web Articles were screened by using pre-defined selection criteria, and methodological quality was assessed independently by 2 authors. Results. The electronic searches yielded 872 articles, and after the screening process, a total of 38 studies met the eligibility criteria and were subsequently included for review. Conclusions. The reviewed studies identified the most frequently addressed topics in this area of research: (1) performance-related genes; (2) injury-related genes; (3) body composition-related genes; and (4) cardiac adaptations. This area of research is still at an early stage, and there is a need for studies to develop knowledge of genetics and its link with physical, technical, and cognitive performance in football with a view to facilitating talent identification in young players.
... The studies that applied strength-related gene analysis are outlined in Table 2. All studies involved male football players and included the ACTN3 polymorphism [23][24][25][26]. Two studies also included the ACE and BDKRB2 genes [24,25]. ...
... All studies involved male football players and included the ACTN3 polymorphism [23][24][25][26]. Two studies also included the ACE and BDKRB2 genes [24,25]. From the 4 studies that investigated strength, 1 compared the effects of eccentric training on muscle damage in the ACTN3 genotypes [26], 2 assessed leg power and vertical jump performance by polymorphisms [24,25], and 1 compared maximal strength between genotypes [23]. ...
... Two studies also included the ACE and BDKRB2 genes [24,25]. From the 4 studies that investigated strength, 1 compared the effects of eccentric training on muscle damage in the ACTN3 genotypes [26], 2 assessed leg power and vertical jump performance by polymorphisms [24,25], and 1 compared maximal strength between genotypes [23]. ...
Purpose. To systematically review and organise the available literature devoted to the topic of genetics and performance
in football.
Methods. A systematic search was conducted in accordance with the PRISMA guidelines in Web of Science, SPORTDiscus,
and PubMed for original research published before October 2019. The following keywords were entered: ‘Soccer’ OR
‘Football’ AND ‘Genetic’ OR ‘Epigenic’ OR ‘Powergene’ OR ‘Genomic’ OR ‘Genotype’ OR ‘Polymorphism’ OR ‘Genetic marker’.
Articles were screened by using pre-defined selection criteria, and methodological quality was assessed independently by
2 authors.
Results. The electronic searches yielded 872 articles, and after the screening process, a total of 38 studies met the eligibility
criteria and were subsequently included for review.
Conclusions. The reviewed studies identified the most frequently addressed topics in this area of research: (1) performancerelated
genes; (2) injury-related genes; (3) body composition-related genes; and (4) cardiac adaptations. This area of research
is still at an early stage, and there is a need for studies to develop knowledge of genetics and its link with physical, technical,
and cognitive performance in football with a view to facilitating talent identification in young players.
Key words: soccer, talent, heritage, training, performance
... Furthermore, alpha-actinin 3 protein is an important component of sarcomeric Z-line (MacArthur and North 2004) and is related to the generation of contractile force at high speeds (Vincent et al. 2007). Some studies have investigated the frequency of ACTN3 gene polymorphism in soccer athletes (Santiago et al. 2008;Massidda et al. 2012;Pimenta et al. 2012). Few studies have shown associations between ACTN3 polymorphism genotypes with the soccer athletes' performance and those results are not in agreement (Massidda et al. 2012;Pimenta et al. 2012Pimenta et al. , 2013Coelho et al. 2016a). ...
... Some studies have investigated the frequency of ACTN3 gene polymorphism in soccer athletes (Santiago et al. 2008;Massidda et al. 2012;Pimenta et al. 2012). Few studies have shown associations between ACTN3 polymorphism genotypes with the soccer athletes' performance and those results are not in agreement (Massidda et al. 2012;Pimenta et al. 2012Pimenta et al. , 2013Coelho et al. 2016a). ...
... Regarding soccer players, Spanish athletes presented a minor and significant allele frequency in II genotype compared with runners (Juffer et al. 2009). A multiple regression analysis performed by Massidda et al. (2012) suggests that ACE genotypes comprise an important factor during squat jump test in Italian soccer players. However, no significant difference was found in ACE genotype and allele distribution among Brazilian soccer players and control group (Coelho et al. 2016b). ...
This study investigated whether ACTN3 R577X, AMPD1 C34T, I/D ACE and M235T AGT polymorphisms can affect performance tests such as jumping, sprinting and endurance in 220 young male athletes from professional minor league soccer team from São Paulo Futebol Clube, Brazil. I/D ACE and M235T AGT polymorphisms were also analyzed according to cardiac and hemodynamic parameters. Athletes were grouped or not by age. DNA from saliva and Taqman® assays were used for genotyping 220 athletes and the results were associated with performance tests. Ventricle mass, ventricle end-diastolic diameter, end diastolic volume and ejection fraction were assessed by echocardiogram. Arterial pressure, heart rate and oximetry were assessed by a cardioscope. The main results of this study were that athletes who carried RR/RX (ACTN3) and DD (ACE) genotypes presented better performance during jump and sprint tests. On the other hand, athletes with ID/II genotype presented better results during endurance test, while AGT genotypes did not seem to favor the athletes during the evaluated physical tests. CC genotype (AMPD1) only favored the athletes during 10-m sprint test. Although there are environmental interactions influencing performance, the present results suggest that RR/RX ACTN3 and ACE DD genotypes may benefit athletes in activities that require strength and speed, while II ACE genotype may benefit athletes in endurance activities. This information could help coaches to plan the training session in order to improve the athletes' performance.
... [25], [29], [31], [44], [61], [69], [77], [95]- [98], [103], [115], [116], [120], [121], [133], [135], [142], [145] P basketball ...
... [29]- [31], [36], [37], [42], [57], [61], [63], [68], [69], [80], [84], [89], [92], [98], [104], [109], [111], [114]- [116], [135], [142], [144], [145], [149], [172] P speed skating (long dist.) ...
... [26], [30], [31], [34], [38], [39], [41]- [43], [46], [61], [65], [69], [74]- [76], [78], [79], [84], [90], [93], [97], [105], [107], [108], [111], [116], [117], [124]- [126], [144], [146], [149], [150], [158], [161]- [163], [169], [171] E canoeing (long dist.) ...
[BACKGROUND: Le generalità, le metodologie e gli ambiti di ricerca della sportgenomica, disciplina trasversale tra le scienze motorie e la biologia molecolare che si pone l’obiettivo di indagare le interazioni tra corredo cromosomico e fenomeno sportivo.
PROPOSITO: Proporre uno stato dell’arte della sportgenomica in ambito di prestazione di alto livello. Proporre una nuova classificazione degli sport conciliando il modello di prestazione e la componente genetica degli atleti.
METODO: Questa comprende una revisione sistematica della letteratura che ha indagato centocinquanta pubblicazioni scientifiche a partire da cinquemilacinquecentotrentacinque (5.535) titoli scansionati. Queste pubblicazioni risultano dall’inserimento, in quattro banche dati (PubMed, Sport Discus, Scopus, Web of Science) delle combinazioni di keywords scelte (athleticogenomics, sportgenomic, ‘sport and genetic’, genome wide association, single nucleotide polymorphisms, ACTN3 R577X, angiotensin-I converting enzyme, elite performance, top-level performance, elite atlete status, endurance performance, power performance).
RISULTATI: La revisione sistematica della letteratura ha identificato un totale di sessanta (60) sequenze geniche indagate all’interno dei lavori rilevanti. Per quarantacinque (45) di esse si presenta un’associazione tra almeno un allele comune e la performance, endurance o sprint/power, di alto livello, distribuite su sessantasette (67) discipline sportive. In conformità a questo, si è tentato di costruire una nuova classificazione delle discipline sportive in base alla predittività genetica nel raggiungimento dell’alto livello e al modello di prestazione. La formulazione della classificazione è avvenuta sulla base di due criteri: predittività genetica (scarsa, moderata, alta) e modello di prestazione (semplificabile, complesso).
CONCLUSIONE: I risultati sembrano ampliare le conoscenze in materia d’indagine e inquadramento delle discipline sportive nella ricerca del talento e suggeriscono un nuovo approccio allo studio dello stesso. Bisogna indagare profili poligenici specifici per disciplina sportiva in base alle sequenze associate a essa, e non alla categoria di prestazione, sia di endurance sia di sprint/power, alla quale appartiene.]
... have been associated with traits such as explosive muscle strength in human soccer players [9] jumping ability in human athletes [10], athletic endurance in humans [11] and also have SNP annotated on them from the equine genome. ...
... While the results presented herein for age of first TLI are in agreement with previous reports of the COL5A1 gene being associated with tendon and ligament injuries [15,17], the current study is the first to report significant SNP located on the COL5A1 gene in the equine species significantly associated with age of first TLI. Furthermore, this is the first study to identify SNP located on the ATP1A2 gene and the BDKRB2 genes associated with TLI in the equine species as these genes have previously only been described with sports performance in humans [9,11] and osteoarthritis [14]. ...
... Furthermore, SNP located on both the ACE and ATP1A1 genes were reported as significantly (P < 0.1) affecting probability of a lifetime TLI. The current study is the first to report SNP in the equine genome significantly associated with lifetime TLI predisposition as previous work has described the ACE and ATP1A1 genes as being associated with athletic performance in humans and not injury [9,10,13]. ...
Tendon and ligament injuries (TLIs) in the performance horse represent a significant burden to the equine industry. Prevention of these types of injury is a major goal as treatment is often unsuccessful and re-injury common. The objective of the current study was to evaluate a population of athletically trained horses from multiple disciplines for SNP located five candidate genes in association TLIs. A population of 63 performance horses with documented injury history or injury resistance was utilized for the current study. Specifically, the study was comprised of 25 horses of various ages with at least one TLI injury and 33 horses of various ages with no injury history. The five candidate genes selected for evaluation included the Angiotensin 1 converter enzyme gene (ACE), the ATPase alpha 2 peptide gene (ATP1A2) the Bradykinin receptor B2 gene (BDKRB2), the Collagen type 1 alpha 1 gene (COL1A1) and the Colla-gen type 5 alpha 1 gene (COL5A1). Candidate genes in the current study have been previously reported to be associated with jumping ability (ACE), racing ability (ATP1A2), and ligament and tendon injuries (BDKRB2, COL1A1 and COL5A1). A total of 64 single nucleotide polymorphisms (SNP) were selected across all candidate genes (ACE = 11, ATP1A2 = 14, BDKRB2 = 9, COL1A1 = 14, COL5A1 = 16). A mixed model analysis was utilized with independent variables of breed, sex, discipline, and individual SNP marker genotype being analyzed as sources of variation for TLI's. Dependent variables included probability of TLI during the horses lifetime (injured or not injured during lifetime) and age of first TLI injury. Although multiple SNP were significantly associated with probability of lifetime injury and age of first TLI injury in the current study, these SNP and a greater number of candidate genes must be evaluated in larger more diverse populations prior to implementation into selection strategies.
... Considering the role of the above three genes and the proteins encoded by them in building athletic abilities, which are perceived as important for soccer, it seems rational to suppose they could individually or as a combination affect long-term development of soccer players. Although some researchers showed that specific gene variants are associated with performance in soccer [17,18,19], stronger evidence of the influence of these genes on predicting a possible reach in soccer are lacking. Hence, the objective of this study was to investigate the possible differences in genotypes ACTN3 R577X (RR, RX, and XX), ACE (Ins/Ins, Ins/Del and Del/Del) and ADRB3 (Trp/Trp, Trp/Arg and Arg/Arg) between the top-level Croatian soccer players -those that made it to the national soccer team and those that did not. ...
... This agrees only partially with the present results, since the Del/Del genotype is found to be underrepresented in national team members in comparison to non-national team players. It should be stressed that numerous investigations found no differences in the ACE gene allele distribution between soccer players and non-athletic population [17,19,22,25,36]. The discrepancy in results of this study and the above findings might be explained by a different study design and sampling methodology, since this is one of the first studies that compared two groups of thoroughly selected players. ...
Introduction: This study investigated the differences in ACTN3, ACE and ADRB3 variants in top-level soccer players who entered the Croatian National Team and the ones who did not but played for two best Croatian teams. Material and Methods: The buccal swabs were collected from 56 soccer players playing for the Croatian National Team (N = 31) and/or for one of the two most prestigious Croatian soccer clubs (N = 25). Each participant’s genotype was determined by analyzing the single-nucleotide polymorphism. The ACTN3 gene (rs1815739) on chromosome 11 and the ACE (rs1799752) gene on chromosome 17 were determined. Results: No significant differences between the players who entered the national team and the ones who did not were found in ACTN3 R577X (p = 0.437) and ADRB3 (p = 0.202) polymorphism distribution, while the differences existed in ACE (p = 0.044). The significant differences were determined in the “Athletic index” between the national-team and non-national-team players (p = 0.023). Regarding the position, the “Athletic index” was significantly higher only in national team midfielders (2.50 ±1.08 points vs. 1.38 ±1.06; p = 0.034). Conclusion: It seems that the soccer players with a favorable genetic combination on the ACTN3 gene and ACE gene might have had a better chance to enter the National Team.
... Many authors have suggested that the ACTN3 RR genotype was associated with the power-orientated phenotypes of football players (Atabaş et al., 2020;Massidda et al., 2012a;Massidda et al., 2012b;Pimenta et al., 2013;Dionísio et al., 2017). Pimenta et al. (2013) suggested that Brazilian professional players with ACTN3 RR were faster and jumped higher compared to XX players, and that XX players had higher aerobic capacity than RR players. ...
... This study revealed that the ACE and ACTN3 genotypes were not associated with muscle phenotype of Chinese youth football players. Moreover, studies on Italian and Polish athletes found no association between ACE and ACTN3 and physical performance (Massidda et al., 2012a;Massidda et al., 2012b;Myosotis et al., 2015;Orysiak et al., 2018). These results suggest that the ACE and ACTN3 genes may not be the major factor responsible for predisposing individuals to a particular sports event; it also affected by other factors, such as gene-gene interactions. ...
Background
Previous studies have shown controversial relationships between ACE I/D and ACTN3 R577x polymorphisms and athletic performance. Therefore, the aim of this study was to assess athletic performance indicators of Chinese youth male football players with different ACE and ACTN3 gene profiles.
Methods and Materials
This study recruited 73 elite (26 13-year-olds, 28 14-year-olds, and 19 15-year-olds) and 69 sub-elite (37 13-year-olds, 19 14-year-olds, and 13 15-year-olds) and 107 controls (63 13-year-olds, and 44 14-year olds aged 13–15 years, all participants were of Chinese Han origin. We measured height, body mass, thigh circumference, speed, explosive power, repeat sprints ability, and aerobic endurance in elite and sub-elite players. We used single nucleotide polymorphism technology to detect controls elite and sub-elite players’ ACE and ACTN3 genotypes, Chi-squared ( χ ² ) tests were employed to test for Hardy-Weinberg equilibrium. χ ² tests were also used to observe the association between the genotype distribution and allele frequencies between controls and elite and sub-elite players. The differences in parameters between the groups were analyzed using one-way analysis of variance and a Bonferroni’s post-hoc test, with statistical significance set at p ≤ 0.05.
Results
(1) The genotype distribution of the ACE I/D and ACTN3 R577x polymorphisms in controls, elite and sub-elite football players were consistent with Hardy-Weinberg equilibrium, except for the ACE genotype distribution of sub-elite players. (2) The RR and DD genotypes were significantly different between elite and sub-elite players ( p = 0.024 and p = 0.02, respectively). (3) Elite players were more likely to have the RR genotype and less likely to have the DD genotype compared with sub-elite players. (4) Both elite and sub-elite RR players’ Yo-yo intermittent recovery level 1 (YYIR1) running distance was significantly longer than that of RX players ( p = 0.05 and p = 0.025, respectively). However, there was no significantly different in YYIR1 running distance between elite and sub-elite RR players. (5) Elite XX players’ VO 2 max was significantly higher than that of RX and sub-elite players.
Conclusion
These results indicate that ACE I/D and ACTN3 R577x polymorphisms are not associated with muscle power in Chinese elite and sub-elite players. The XX genotype of ACTN3 is associated with the aerobic endurance of elite players.
... Since the ACE D allele is overrepresented in some (though not all) studies of sprint/power-oriented athletes, these findings might suggest that football players tend to have a sprint/power-oriented genotype. On the other hand, three more studies conducted, respectively, on Italian (Massidda et al., 2012), Polish (Cięszczyk et al., 2016a), and Brazilian (Coelho et al., 2016) football players did not find any significant difference in ACE I/D genotype frequency distribution between football players and controls. More research is needed to clarify the role of the ACE I/D polymorphism in football with respect to different playing positions. ...
... Vertical jump performance has also been associated with the ACTN3 polymorphism. In 42 Italian football players (Massidda et al., 2012), a multivariate model combining genotypic data (ACE and ACTN3 polymorphisms) and competition level of the players significantly predicted vertical jump height (measured by SJ and CMJ). Pimenta et al. (2013), studying a cohort of two hundred professional players of Brazilian soccer first division teams, found that individuals of ACTN3 RR and RX genotype presented the higher data in jump tests compared with XX genotypes. ...
Compared to sprint/power and endurance sports, the genetic contribution to success in sports that require a mixture of anaerobic and aerobic qualities has received relatively limited attention. This chapter evaluates research findings on the potential genetic variants influencing the team sports athletic status and the key factors for team sports performance, with particular emphasis on football (soccer) and rugby. Despite the great potential of the genetic studies in team sports and some promising progress recently made, there is very much more yet to be discovered than is understood at present. So far, only 10 genetic markers associated with team sports athlete status have been identified, and replication studies are needed to confirm those associations. In view of the foregoing, large collaborative projects with sound experimental designs (e.g. clearly defined phenotypes, consideration and control of sources of variability, and necessary replications) are needed to improve understanding in this area.
... Exploration of the association between the ACTN3 genotype and the actual anaerobic performance phenotype is important to help trained athletes, especially those in power-oriented sports, to design more suitable individualized training programs. Despite this importance, the WAnT was not employed in the previous studies (7,15) concerning the specific role of the ACTN3 genotype in trained athletes. ...
... However, no association between the ACTN3 R577X genotype and the muscle power results of the WAnT was reported in individuals who were active but not athletes (9,22). On the other hand, Massidda et al. (15) reported that the ACTN3 R577X genotype accounted for 8.0% of the variation in squat-jump performance in elite soccer players. These results suggest that the contribution of the ACTN3 R577X genotype becomes more apparent in competitive athletes, as we had hypothesized. ...
In this study, we investigated whether the ACTN3 R577X polymorphism is associated with muscular power in Japanese collegiate athletes by analyzing the mean and peak power results of a 30-s Wingate Anaerobic Test (WAnT) with respect to the ACTN3 R577X genotype in 253 Japanese athletes (144 men and 109 women). Each athlete performed a 30-s WAnT with a resistance equal to 7.5% of his or her body weight. Genotyping for the ACTN3 R577X (rs1815739) polymorphism was performed using the TaqMan® approach. The ACTN3 R577X genotypes exhibited a Hardy-Weinberg equilibrium distribution in our population. The relative and absolute mean power results of the 30-s WAnT did not differ significantly among the genotypes. However, the relative peak power result of the WAnT was significantly higher in the R-allele-dominant model groups than in the XX group in male but not female athletes. These results suggest that the ACTN3 R allele is associated with the relative peak power during the WAnT in male Japanese collegiate athletes.
... Numerous studies focusing on the investigation of inter-player differences in soccer indicate that genetically, certain factors contribute significantly (Sunje et al., 2021). Especially in determining the differences between professional and amateur soccer players, physical performance tests in the context of sports genetics hold great importance (Massidda et al., 2012). ...
The aim of this study is twofold: (1) to identify differences in certain anaerobic parameters (10m sprint, 30m sprint, anaerobic power, and Illinois agility tests) between professional and amateur soccer players, and (2) to determine whether there is a difference in the ACTN3 gene polymorphism between professional and amateur soccer players. Ultimately, the goal is to reveal which parameters contribute to the differentiation in these two aspects. A total of 133 volunteer soccer players, including 71 professionals and 62 amateurs, participated in the research. DNA extraction from buccal epithelial cells was performed using a commercial kit to determine the genetic background of the athletes, and Real-Time PCR was conducted for genotyping. Statistical analysis of the findings obtained from the test results was performed using the SPSS 23 (SPSS Inc., Chicago, IL, USA) package program. The homogeneity of variance of the data was assessed using the Levene Test, and normal distribution analyses were conducted using the Shapiro-Wilk Test. Chi-square and Mann-Whitney U tests were employed for parameter analysis. The significance level was set at p<0.05. Evaluation of the data in our study revealed no statistically significant difference in ACTN3 rs1815739 gene polymorphism between the groups (p>0.05). However, there is a statistically significant difference in anaerobic parameters (10m sprint, 30m sprint, and anaerobic power) except for the Illinois test (p<0.05). In conclusion, our study found that gene polymorphism is not a differentiating factor between professional and amateur soccer players, but speed (10m and 30m) and anaerobic power parameters are differentiating factors.
... In Italian football players, ACE and ACTN3 genotypes were found to have no significant association with CMJ height but showed associations with SJ (squat jump). Moreover, when combined with the level of competition, these genotypes explained 23.92% of the individual differences [25]. The D allele of the ACE gene has been observed to confer an advantage for high CMJ height in male and female sprint athletes, as well as in female endurance athletes [26]. ...
... Numerous studies focusing on the investigation of inter-player differences in soccer indicate that genetically, certain factors contribute significantly (Sunje et al., 2021). Especially in determining the differences between professional and amateur soccer players, physical performance tests in the context of sports genetics hold great importance (Massidda et al., 2012). ...
Sprint and anaerobic power with the soccer-specific ACTN3 gene: A distintive example. Int. J. Morphol., 42(2):538-548, 2024. SUMMARY: The aim of this study is twofold: (1) to identify differences in certain anaerobic parameters (10m sprint, 30m sprint, anaerobic power, and Illinois agility tests) between professional and amateur soccer players, and (2) to determine whether there is a difference in the ACTN3 gene polymorphism between professional and amateur soccer players. Ultimately, the goal is to reveal which parameters contribute to the differentiation in these two aspects. A total of 133 volunteer soccer players, including 71 professionals and 62 amateurs, participated in the research. DNA extraction from buccal epithelial cells was performed using a commercial kit to determine the genetic background of the athletes, and Real-Time PCR was conducted for genotyping. Statistical analysis of the findings obtained from the test results was performed using the SPSS 23 (SPSS Inc., Chicago, IL, USA) package program. The homogeneity of variance of the data was assessed using the Levene Test, and normal distribution analyses were conducted using the Shapiro-Wilk Test. Chi-square and Mann-Whitney U tests were employed for parameter analysis. The significance level was set at p<0.05. Evaluation of the data in our study revealed no statistically significant difference in ACTN3 rs1815739 gene polymorphism between the groups (p>0.05). However, there is a statistically significant difference in anaerobic parameters (10m sprint, 30m sprint, and anaerobic power) except for the Illinois test (p<0.05). In conclusion, our study found that gene polymorphism is not a differentiating factor between professional and amateur soccer players, but speed (10m and 30m) and anaerobic power parameters are differentiating factors.
... Numerous studies focusing on the investigation of inter-player differences in soccer indicate that genetically, certain factors contribute significantly (Sunje et al., 2021). Especially in determining the differences between professional and amateur soccer players, physical performance tests in the context of sports genetics hold great importance (Massidda et al., 2012). ...
The aim of this study is twofold: (1) to identify differences in certain anaerobic parameters (10m sprint, 30m sprint, anaerobic power, and Illinois agility tests) between professional and amateur football players, and (2) to determine whether there is a difference in the ACTN3 gene polymorphism between professional and amateur football players. Ultimately, the goal is to reveal which parameters contribute to the differentiation in these two aspects. A total of 133 volunteer football players, including 71 professionals and 62 amateurs, participated in the research. DNA extraction from buccal epithelial cells was performed using a commercial kit to determine the genetic background of the athletes, and Real-Time PCR was conducted for genotyping. Statistical analysis of the findings obtained from the test results was performed using the SPSS 23 (SPSS Inc., Chicago, IL, USA) package program. The homogeneity of variance of the data was assessed using the Levene Test, and normal distribution analyses were conducted using the Shapiro-Wilk Test. Chi-square and Mann-Whitney U tests were employed for parameter analysis. The significance level was set at p<0.05. Evaluation of the data in our study revealed no statistically significant difference in ACTN3 rs1815739 gene polymorphism between the groups (p>0.05). However, there is a statistically significant difference in anaerobic parameters (10m sprint, 30m sprint, and anaerobic power) except for the Illinois test (p<0.05). In conclusion, our study found that gene polymorphism is not a differentiating factor between professional and amateur football players, but speed (10m and 30m) and anaerobic power parameters are differentiating factors.
... Many studies explain the positive impact of genetic variants on physical performance in professional or amateur soccer players [19], including speed, power [50], endurance [51], functional muscle strength, and power or agility [52]. Soccer is a sports discipline that requires both endurance and explosive power, such as long runs, jumps, sudden changes of direction, and sprints [53][54][55][56]. ...
Background Current research on athletic performance focuses on genetic variants that contribute significantly
to individuals’ performance. ACTN3 rs1815739 and PPARA-α rs4253778 gene polymorphisms are variants frequently associated with athletic performance among different populations. However, there is limited research examining the pre-and post-test results of some variants of athletic performance in soccer players. Therefore, the presented research is to examine the relationships between the ACTN3 rs1815739 and PPARA-α rs4253778 gene polymorphisms and athletic performance improvement rates in adaptations to six weeks of training in elite soccer players using some athletic performance tests.
Methodology Twenty-two soccer players between the ages of 18 and 35 voluntarily participated in the study.
All participants were actively engaged in a rigorous six-day-a-week training program during the pre-season preparation period. Preceding and following the training program, a battery of diverse athletic performance tests was administered to the participants. Moreover, Genomic DNA was extracted from oral epithelial cells using the Invitrogen DNA isolation kit (Invitrogen, USA), following the manufacturer’s protocol. Genotyping was conducted using real-time PCR. To assess the pre- and post-test performance differences of soccer players, the Wilcoxon Signed Rank test was employed.
Results Upon analyzing the results of the soccer players based on the ACTN3 genotype variable, it was observed that there were no statistically significant differences in the SJ (Squat Jump), 30m sprint, CMJ (Counter Movement Jump), and DJ (Drop Jump) performance tests (p > 0.05). However, a statistically significant difference was identified in the YOYO IRT 2 (Yo-Yo Intermittent Recovery Test Level 2) and 1RM (One Repetition Maximum) test outcomes (YOYO IRT 2: CC, CT, and TT, p = 0.028, 0.028, 0.008, 0.000, respectively; 1RM: CC, CT, and TT, p = 0.010, 0.34, 0.001, respectively). Regarding the PPARA-α genotype variable, the statistical analysis revealed no significant differences in the SJ, 30m sprint, CMJ, and DJ performance tests (p > 0.05). Nevertheless, a statistically significant difference was observed in the YOYO IRT 2 and 1RM test results (YOYO IRT 2: CC, CG p = 0.001, 0.020; 1RM: CC, p = 0.000)
Conclusions The current study demonstrated significant enhancements in only YOYO INT 2 and 1RM test outcomes across nearly all gene variants following the six-day-a-week training program. Other performance tests, such as
the 30m sprint, SJ, CMJ, and DJ tests did not exhibit statistically significant differences. These findings contribute novel insights into the molecular processes involving PPARA-α rs4253778 and ACTN3 rs1815739 that underpin enhancements in endurance (YOYO INT 2) and maximal strength (1RM) aspects of athletic performance. However,
to comprehensively elucidate the mechanisms responsible for the association between these polymorphisms and athletic performance, further investigations are warranted. It is thought that the use of field and genetic analyses together to support each other will be an important detail for athletes to reach high performance.
... It is generally accepted that biomotor abilities of both elite and non-elite athletes could be linked to genetic variation [32][33][34][35][36][37]. For mechanistic explanation of the biomotor abilities, many studies have indicated that the ACTN3 gene was a highly critical candidate gene whose product affected the athletic performance in elite or sub-elite athletes [38][39][40][41]. The decisive role of ACTN3 in high-intensity muscle contractions indicates that ACTN3 R577X polymorphism is the variant linked to the individual performance differentiations in the basketball players [42]. ...
Association of ACTN3 R577X Polymorphism with Elite Basketball Player Status and Training Responses. Abstract: The α-actinin-3 (ACTN3) gene rs1815739 (C/T, R577X) polymorphism is a variant frequently associated with athletic performance among different populations. However, there is limited research on the impact of this variant on athlete status and physical performance in basketball players. Therefore, the aim of this study was twofold: (1) to determine the association of ACTN3 rs1815739 polymorphism with changes in physical performance in response to six weeks of training in elite basketball players using 30 m sprint and Yo-Yo Intermittent Recovery Test Level 2 (IR 2) tests, and (2) to compare ACTN3 genotype and allelic frequencies between elite basketball players and controls. The study included a total of 363 individuals, comprising 101 elite basketball players and 262 sedentary individuals. Genomic DNA was isolated from oral epithelial cells or leukocytes, and genotyping was performed by real-time PCR using KASP genotyping method or by microarray analysis. We found that the frequency of the ACTN3 rs1815739 XX genotype was significantly lower in basketball players compared to controls (10.9 vs. 21.4%, p = 0.023), suggesting that RR/RX genotypes were more favorable for playing basketball. Statistically significant (p = 0.045) changes were observed in Yo-Yo IRT 2 performance measurement tests in basketball players with the RR genotype only. In conclusion, our findings suggest that the carriage of the ACTN3 rs1815739 R allele may confer an advantage in basketball.
... The RR genotype in Brazilian youth and professional players was found to be significantly associated with sprinting speed and explosive power (Pimenta et al., 2013;Coelho et al., 2016;Dionísio et al., 2017). The RR genotype of Italian (Massidda et al., 2012) and Turkish (Atabaş et al., 2020) players was also found to be significantly associated with explosive power. However, Koku et al. (2019) reported that the swing arm vertical jump of European (Caucasians) amateur football players was significantly higher than that of the RR genotype players. ...
The purpose of this study was to investigate the prevalence of ACTN3 polymorphisms in Chinese elite and sub-elite football players aged 13–15 years at different positions. Specifically we explored whether ACTN3 genotypes were linked with athletic performance of elite and sub-elite players at different positions. The RR genotype frequency of elite defenders (p = 0.018) and midfielders (p = 0.008) was significantly higher than that of sub-elite XX genotype in elite players. Furthermore, the R allele frequency of elite defenders (p = 0.003) and midfielders (p = 0.008) was significantly higher than that of sub-elite players. In all subjects, RR players performed faster and exhibited more explosive power than RX or XX players. RR, RX and XX elite players’ 20 m/30 m sprint, 5 × 25-m repeated sprint ability (5 × 25 m RSA), and standing long jump were stronger than sub-elite players, but there was no significant different in aerobic endurance between elite and sub-elite players at different positions. In conclusion, there were significant differences in ACTN3 genotypes and alleles between elite and sub-elite players at different positions, and the RR genotype was significantly associated with power-related athletic performance in Chinese youth football players.
... There are some studies that found a positive relationship between the R allele of this gene and performance (Massidda et al., 2014;Pimenta et al., 2013). However, the study by Ginevičienė et al. (2011) concluded that the X allele has a positive relationship with performance, whereas others do not find any relationship (Garatachea et al., 2014;Massidda et al., 2012). It has also been observed that this gene does not influence the muscle power obtained in a WAnT after an intense session (Hanson et al., 2010) and that the gene does not condition muscle strength or sprint performance of trained women and men again obtained by a WAnT (Norman et al., 2009). ...
Anaerobic performance is decisive in many sports. The Wingate Anaerobic Test (WAnT) is the most widely used test for
the assessment of anaerobic performance to date. Performance in this test is influenced by many variables, including
genetics. The aim of this review is to analyze the genes related to WAnT performance. A detailed search of four databases (Pubmed, Scopus, Web of Science and Cochrane Library) was conducted until February 2022. This literature
search was implemented according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. Nine eligible studies were selected from the 153 records identified. 3 articles for the ACTN3 gene, 2 for AMPD,
one combined ACTN3 and AMPD, 1 article each for PPARA, UCP2 and MCT1. The genes ACTN3 and AMPD seem to
report contradictory literature regarding its influence on WAnT peak power (PP), mean power and fatigue index. The
MCT1 gene seems to have no influence, and the PPARA and UCP2 genes seem to have a positive relationship with PP.
... Similar evidence was documented for VDR polymorphisms (Micheli et al., 2011;Puthucheary et al., 2011). In elite Italian soccer players, an interaction of two polymorphisms (ACE and ACTN3) predicted explosive leg-muscle strength, however, the contribution of genetic factors was only 23.92% (Massidda et al., 2012). ...
Background
Spondyloarthritis (SpA) are the most common group of chronic inflammatory rheumatic diseases affecting about 1.5% of the adult Caucasian population. Low back pain is the most common symptom. The aetiopathogenesis of SpA is multifactorial, with well-known genetic and environmental contributions. Furthermore, muscle properties might also be involved in the pathophysiological process and these could be modulated by the genetic background. Alpha-actinin-3 (ACTN3) and Vitamin D receptor (VDR) genes are well-known genes related with muscle performance. Our aim was to analyze four SNPs of these genes and to evaluate their influence in axial SpA (axSpA) susceptibility, phenotype and muscle properties.
Methods
We performed a pilot study based on case-control approach involving 56 participants: 28 axSpA patients and 28 healthy controls matched by age, gender and levels of physical activity. Clinical, epidemiological and muscle characterization data—muscle physical properties (stiffness, tone, and elasticity), strength, mass, and performance, were collected. Two different muscles were considered for analysis, the Multifidus and Gastrocnemius. Four SNPs of ACTN3 (rs1815739) and VDR (rs2228570, rs731236, and rs7975232), were selected, analyzed and correlated with clinical, epidemiological and muscle characterization data.
Results
In total, 51 individuals (27 axSpA patients and 24 matched controls) were eligible for further genetic analysis, 66.7% being male and with a mean age of 36 years. Muscle physical properties, muscle strength and muscle mass were similar in both groups; however, axSpA patients showed a decrease in muscle performance. None of the studied SNPs were associated with disease susceptibility/phenotype, muscle physical properties, muscle strength or muscle mass. However, ACTN3 rs1815739 and VDR rs2228570 were shown to be associated with muscle performance.
Conclusion
Our results suggest an association between ACTN3 and VDR polymorphisms and muscle performance in axSpA.
... Many studies evaluate the effects of genetic variants on elite (or sub-elite) soccer status [28,65] or different traits that might be advantageous for soccer performance, including speed and power [66], endurance [67], or injury prevention [68]. For a comprehensive overview, current systematic reviews of McAuley et al. (2020) [7] or Sarmento et al. (2020) [69] suggest several gene variants, which can be beneficial for soccer and specifically for playing position in soccer as our findings exhibit. ...
Heritability studies on sport-related traits accepted that endurance, speed, power, and strength abilities include an active genetic predisposition to elite soccer participation. This study evaluates the influence of selected genetic variants on performance in speed, power, and strength laboratory tests on a group of elite soccer players, including their playing position. A ninety-nine male elite soccer players were compared to controls
(n = 107) and tested for quadriceps and hamstrings isokinetic strength at speed 60°/s, 180°/s, and 300°/s, jump performance, and genotypes of ACTN3 (R577X, rs1815739), ACE (I/D, rs1799752), NOS3 (Glu298Asp, rs1799983), AMPD1 (34C/T, rs17602729), UCP2 (Ala55Val, rs660339), BDKRB2 (+9/-9, rs5810761) and IL1RN (VNTR 86-bp). The ACTN3 XX homozygotes in defenders had lower quadriceps and hamstring isokinetic strength
in all tested speeds than ACTN3 RX and RR genotypes (p < 0.05). The ACTN3 RR homozygotes in defenders had higher quadriceps strength in all tested velocities than the RX heterozygotes (p < 0.05). We also found other associations between playing-position in soccer and increased strength of lower limbs for AMPD1 CC and NOS3 Glu/Glu genotypes, and IL1RN*2 allele carriers. Total genetic score regression explained 26% of the variance in jump performance and isokinetic strength. The ACTN3 R allele, NOS3 Glu/Glu genotypes, and IL1RN*2 allele pre-disposed the attackers and defenders playing position in elite soccer, where those positions have higher strength and power measures than midfielders. Midfielders have lower strength and power conditions than other playing positions without relation to strength and power genes.
... Previous studies reported that UCP3 T allele and FTO T-allele carriers ( Bondareva et al., 2016) and NRF2 AG/GG genotypes ( Egorova et al., 2014) were related to the adult elite soccer status in the Eastern European population, which suggests that such multifactorial achievement might have single polymorphism predictors. Besides the whole elite performance status, the conditioning domain has been largely described in terms of genetic predispositions, e.g.: polymorphisms in ACE, and ACTN3 genes can predict squat jump and countermovement jump performance in soccer players ( Massidda et al., 2012;Micheli et al., 2011). In our previous work, we studied the effects of genetic variants on selected parameters in team sport athletes and observed that PPARA CC homozygotes and GDF5 A allele carriers had a better reactive strength index ( Stastny et al., 2019). ...
The incidence of non-contact injuries in youth sport is high and poses significant personal, social and economic burden on players and clubs. In soccer, the most common injuries include injuries of the lower extremities, with the prevailing type of injury being non-contact lower limb injury. This book presents information regarding changes in lower limb injury risk factors when fatigue is present and the role of genetics in injury risk in male youth soccer. As many internal risk factors are modifiable, information presented both in the theoretical part of the book and original research studies focuses on the influence of acute, residual and accumulated fatigue on physiological mechanisms. This information can help sports scientists and coaches understand the age related effects of fatigue on such factors. In practice, this can help coaches monitor fatigue related responses and be able to create efficient training programmes during important periods of growth and maturation. This will help to enhance performance and reduce injury risk during training and match-play in youth male soccer.
... Furthermore, regarding the influence of genetic variants on specific key factors in football performance, published findings are discordant. For example, some authors have found an interaction between polymorphisms and vertical jump height [13,26,29,36], short distance running speed and aerobic capacity [36], while other authors reported no association between genetic markers and quantitative traits of football performance [9]. ...
The aim of this study was to investigate the association between the MCT1 (monocarboxylate transporter 1) A1470T polymorphism and positional roles in a large cohort of professional football players from five different countries. We compared genotype distributions of the MCT1 A1470T polymorphism between football players (n=694) and non-athlete controls (n=781) from Italy, Poland, Lithuania, Ukraine and Malta, and we analyzed the MCT1 genotype distributions with respect to the players’ positions in the field (e. g. forwards, midfielders, defenders and goalkeepers). Genomic DNA was extracted from either buccal epithelium or peripheral blood using a standard protocol. In the pooled cohort of Italian, Polish, Lithuanian and Ukrainian football players, forwards (n=148) were more likely than controls (n=781) to possess the A allele (χ2=7.067, p=0.029, FDR q value 0.116), with a greater likelihood of having the AA genotype compared with the TT genotype (OR=1.97; C.I.=1.07-3.64; p=0.021, FDR q value 0.086). The MCT1 AA genotype was significantly more frequent in forwards then in controls. Further studies are needed to confirm these findings in other professional football player cohorts.
... Variations in the DNA sequence have been associated with athletic performance, 1 response to training, 2,3 and footballrelated phenotypes, such as sprinting and aerobic capacity, 4 jumping, 5,6 and fat-free mass. 7 Recently, we and others showed an association between a few single nucleotide polymorphisms and the susceptibility to develop musculoskeletal injuries, [8][9][10] including anterior cruciate ligament injury 11 in professional football players. ...
Objective:
The ACTN3 R577X gene variant results in the absence of the α-actinin-3 protein in ∼18% of humans worldwide and has been associated with athletic performance and increased susceptibility to eccentric muscle damage. The aim of this study was to investigate the association between ACTN3 R577X variant and indirect muscle disorders/injuries in professional football players.
Design:
A case-control, genotype-phenotype association study.
Intervention:
Two hundred fifty-seven male professional Italian football players (from Serie A, Primavera, Allievi, and Giovanissimi; age = 21.2 ± 5.3 years) and 265 nonathletic controls were recruited for the study. Genomic DNA was extracted using a buccal swab, and the ACTN3 R577X genotype was performed using a PCR method. Structural-mechanical injuries and functional muscle disorders were collected from a subgroup of 169 football players during the period of 2009 to 2014.
Main outcome measure:
We hypothesized that the 577XX genotype would be associated with higher predisposition to muscle injuries (compared with the other genotypes).
Results:
ACTN3 XX (α-actinin-3 deficiency) players had 2.66 higher odds for an injury incidence than their ACTN3 RR counterparts (95% confidence interval [CI]: 1.09-6.63, P = 0.02), whereas RX and RR players had similar injury incidence. Furthermore, ACTN3 XX players had 2.13 higher odds for having a severe injury compared with their RR counterparts (95% CI: 1.25-3.74, P = 0.0054), whereas RX individuals had 1.63 higher odds for having a severe injury compared with the RR players (95% CI: 1.10-2.40, P = 0.015).
Conclusions:
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.
Clinical relevance:
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.
... We also found that 4.6% of variability in the relative peak power in WAnT among male Japanese athletes was due to the ACTN3 R577X genotype [44]. Massidda et al. [42] have reported that the ACTN3 R577X genotype accounts for 8.0% of the variation in squat-jump performance of elite soccer players. In the general population, the ACTN3 R577X polymorphism is responsible for 1-2% of the variation in muscle strength [37,43]. ...
Training variants (type, intensity, and duration of exercise) can be selected according to individual aims and fitness assessment. Recently, various methods of resistance and endurance training have been used for muscle hypertrophy and VO2max improvement. Although several genetic variants are associated with elite athletic performance and muscle phenotypes, genetic background has not been used as variant for physical training. ACTN3 R577X is a well-studied genetic polymorphism. It is the only genotype associated with elite athletic performance in multiple cohorts. This association is strongly supported by mechanistic data from an Actn3-knockout mouse model. In this review, possible guidelines are discussed for effective utilization of ACTN3 R577X polymorphism for physical training.
... Santiago et al. [19] examined the frequency of this ACTN3 genotype in 60 top-level professional Spanish soccer players, showing that the percentage distributions of 577RR and 577RX genotypes (48.3% and 36.7%) were significantly higher and lower, respectively, than those in controls (n = 123; 28.5% and 53.7%) or endurance athletes (n = 52; 26.5% and 52%) (p = 0.041). In a previous study [20], we did not find a significant difference in top-level soccer players' (n = 42) jump performance among the various genotypes. ...
Background: The ACTN3 gene may influence performance in team sports, in which sprint action and high-speed movements, regulated by the anaerobic energy system, are crucial to the ultimate success of a match. The aim of this study was to determine the association between the ACTN3 R577X (rs1815739) polymorphism and elite team sport athletic status in Italian male athletes.
Methods: We compared the genotype and allele frequency of the ACTN3 R577X polymorphism between team sport athletes (n = 75), endurance athletes (n = 40), sprint/power athletes (n = 64), and non-athletic healthy controls (n = 192) from Italy. Genomic DNA was collected using a buccal swab. Extraction was performed according to the manufacturer’s directions provided with a commercially available kit (Qiagen S.r.l., Milan, Italy).
Results: Team sport athletes showed a lower frequency of the 577RR genotype compared to the 577XX genotype than sprint/power athletes (p = 0.044). However, the ACTN3 R577X polymorphism was not associated with team sport athletic status compared to endurance athletes and non-athletic controls.
Conclusions: Our results agree with a recent large-scale study involving athletes from Spain, Poland, and Russia.
The ACTN3 R577X polymorphism was not associated with team sport athletic status compared to endurance athletes and non-athletic controls.
... In addition, a number of previous studies have suggested associations between certain genetic markers and the susceptibility of players to injury and performance while participating in sport (20,21). Thus, the performance of professional football players and their susceptibility to injury may be influenced by genetic factors (22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34). ...
The aim of the present study was to investigate the association between vitamin D receptor (VDR) gene polymorphisms and musculoskeletal injury (MI) in elite football players. In total, 54 male professional football players were recruited from an official Italian professional championship team between 2009 and 2013. The cohort was genotyped for the ApaI, BsmI and FokI polymorphisms and MI data were collected over four football seasons. No significant differences were identified among the genotypes in the incidence rates
or severity of MI (P=0.254). In addition, no significant associations were observed between VDR polymorphisms and MI phenotypes (P=0.460). However, the results of the casewise multiple regression analysis indicated that the ApaI genotypes accounted for 18% of injury severity (P=0.002). Therefore,
while the BsmI and FokI polymorphisms did not appear to be associated with the severity or incidence of MI, the ApaI genotypes may have influenced the severity of muscle injury in top-level football players.
... Santiago et al. [19] examined the frequency of this ACTN3 genotype in 60 top-level professional Spanish soccer players, showing that the percentage distributions of 577RR and 577RX genotypes (48.3% and 36.7%) were significantly higher and lower, respectively, than those in controls (n = 123; 28.5% and 53.7%) or endurance athletes (n = 52; 26.5% and 52%) (p = 0.041). In a previous study [20], we did not find a significant difference in top-level soccer players' (n = 42) jump performance among the various genotypes. ...
Background: The ACTN3 gene may influence performance in team sports, in which sprint action and high-speed movements, regulated by the anaerobic energy system, are crucial to the ultimate success of a match. The aim of this study was to determine the association between the ACTN3 R577X (rs1815739) polymorphism and elite team sport athletic status in Italian male athletes.
Methods: We compared the genotype and allele frequency of the ACTN3 R577X polymorphism between team sport athletes (n = 75), endurance athletes (n = 40), sprint/power athletes (n = 64), and non-athletic healthy controls (n = 192) from Italy. Genomic DNA was collected using a buccal swab. Extraction was performed according to the manufacturer’s directions provided with a commercially available kit (Qiagen S.r.l., Milan, Italy).
Results: Team sport athletes showed a lower frequency of the 577RR genotype compared to the 577XX genotype than sprint/power athletes (p = 0.044). However, the ACTN3 R577X polymorphism was not associated with team sport athletic status compared to endurance athletes and non-athletic controls.
Conclusions: Our results agree with a recent large-scale study involving athletes from Spain, Poland, and Russia.
The ACTN3 R577X polymorphism was not associated with team sport athletic status compared to endurance athletes and non-athletic controls.
... We studied six genetic polymorphisms (ACTN-3, ACE, BDKRB2, VDR-FokI, VDR-ApaI, VDR-BsmI) ( Table 1) associated with sprint/power performance, muscular strength and anaerobic phenotypes required for soccer performance [7][8][9][10][11][12][13][14][15][16][17][18][19][20] . When selecting these genetic markers, we looked for candidate genes associated with the ability of muscles to generate fast contractions because such contractions are required for the acceleration and jumping performed by soccer players 20 . ...
Purpose:
The aim of the current study was to construct a genetic model with a new algorithm for predicting athletic-performance variability based on genetic variations.
Methods:
The influence of 6 polymorphisms (ACE, ACTN-3, BDKRB2, VDR-ApaI, VDR-BsmI, and VDR-FokI) on vertical jump was studied in top-level male Italian soccer players (n = 90). First, the authors calculated the traditional total genotype score and then determined the total weighting genotype score (TWGS), which accounts for the proportion of significant phenotypic variance predicted by the polymorphisms. Genomic DNA was extracted from saliva samples using a standard protocol. Genotyping was performed using polymerase chain reaction (PCR).
Results:
The results obtained from the new genetic model (TWGS) showed that only 3 polymorphisms entered the regression equation (ACTN-3, ACE, and BDKRB2), and these polymorphisms explained 17.68-24.24% of the vertical-jump variance. With the weighting given to each polymorphism, it may be possible to identify a polygenic profile that more accurately explains, at least in part, the individual variance of athletic-performance traits.
Conclusions:
This model may be used to create individualized training programs based on a player's genetic predispositions, as well as to identify athletes who need an adapted training routine to account for individual susceptibility to injury.
The demand for creativity in team sports, and specifically in a highly unpredictable activity such as soccer, has generated great interest from academics and practitioners. Creative players can bring the unforeseeable into the game that can allow teams to keep an edge over their opponents and is considered a key element of performance. Current theoretical approaches highlight that nur- turing creativity in soccer should be encouraged throughout youth developmental stages; thus, practitioners must create an enriching and supportive environment for creativity to thrive. The development of creativity comprises long-term work on the part of the young player, coupled with the corresponding planning, implementation, and patience from practitioners. As such, the first part of this chapter frames the concept and presents comprehensive frameworks (e.g., the Tactical Creativity Approach, Memmert, 2013; Creativity Developmental Framework, Santos et al., 2016) to aid creative play to flourish. The second part of this chapter provides a detailed description of small-sided games and movement variability features to encourage exploratory be- haviour and complement soccer training tasks. Moreover, in this section, an overview of current evidence-based interventions is centrally discussed. The third part of this chapter offers a review across creativity training programmes, such as Skills4Genius (Santos et al., 2017) and The Crea- tive Soccer Platform (Rasmussen & Østergaard, 2016), to provide further guidance and strategies for soccer practitioners to design for creativity developmental outcomes. Lastly, in order to ad- vance this field of practice, considerations for researchers and practitioners are outlined.
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.
Modern competitive sport has evolved so much that athletes would go to great extremes to develop themselves into champions; medicine has also evolved to the point that many genetic elements have been identified to be associated with specific athletic traits, and genetic alterations are also possible. The current review examines the published literature and looks at three important factors: genetic polymorphism influencing sporting ability, gene doping and genetic tendency to injury. The ACTN3 gene has an influence on type II muscle fibres, with the R allele being advantageous to power sports like sprinting and the XX genotype being associated with lower muscle strength and sprinting ability. The ACE gene polymorphisms are associated with cardio-respiratory efficiency and could influence endurance athletes. Many other genes are being looked at, with specific focus on those that are potentially related to enhancement of athletic ability. Recognition of these specific gene polymorphisms brings into play the concept of genetic engineering in athletes, which constitutes gene doping and is outlawed. This has the potential to develop into the next big threat in elite sports; gene doping could have dangerous and even fatal outcomes, as the knowledge of gene therapy is still in its infancy. Genetic predisposition to injury is also being identified; recent publications have increased the awareness of gene polymorphisms predisposing to injuries of ligaments and tendons due to influence on collagen structure and extracellular matrix. Ongoing work is looking at identifying the same genes from different races and different sexes to see if there are quantitative racial or sexual differences. All of the above have led to serious ethical concerns; in the twenty-first century some sports associations and some countries are looking at genetic testing for their players. Unfortunately, the science is still developing, and the experience of its application is limited worldwide. Nevertheless, this field has caught the imagination of both the public and the sportsperson, and hence the concerned doctors should be aware of the potential problems and current issues involved in understanding genetic traits and polymorphisms, genetic testing and genetic engineering.
PURPOSE The purpose of this study is to investigate the relations among ACTN-3 polymorphism (RR, RX, XX), G-tolerance (breath cycle) at 9 G-test (15 seconds), and body compositions for F-15/16 pilots’ selection, plane deployment and safe service. METHODS 21 male F-15/16 pilots (29.3±1.00 years, 173.5±6.3 cm, 78.6±10.97 kg) voluntarily participated (ASMC-17-IRB-009). ACTN-3 polymorphism (RR, RX, XX) were analyzed from venous blood 3 mL. Participants did G-test (9 G, 15 seconds) for measuring G-tolerance from mean breath cycle (second) and measured body compositions (height [cm], weight [kg], muscle mass [kg], fat [kg], %), BMI [kg/m2]). Using SPSS 19.0 (for windows), G-tolerance and body compositions were analyzed by ACTN-3 polymorphism and correlations between G-tolerance and body compositions were analyzed. RESULTS ACTN-3 polymorphism showed, 6 ‘RR’, 10 ‘RX’, 5 ‘XX’. There was no significance in G-tolerance and body compositions by ACTN-3 polymorphism, in correlation between G-tolerance and body compositions. But, ‘RR’ could be inferred predominant in G-tolerance from longest mean breath cycle. In G-tolerance, muscle mass showed positive and fat showed negative trend. Pilots’ mean BMI was judged as obesity. CONCLUSIONS By ACTN-3 polymorphism, no significance was showed in G-tolerance and body compositions at high G-test (9 G, 15 seconds). For proving ‘RR’s predominant possibility, more participants and long G-test time are needed. From muscle mass’ positive and fat’s negative trend with G-tolerance, and pilots’ obesity, body composition management education is needed.
The aim of the present study was to investigate the association between vitamin D receptor (VDR) gene polymorphisms and musculoskeletal injury (MI) in elite football players. In total, 54 male professional football players were recruited from an official Italian professional championship team between 2009 and 2013. The cohort was genotyped for the ApaI, BsmI and FokI polymorphisms and MI data were collected over four football seasons. No significant differences were identified among the genotypes in the incidence rates or severity of MI (P=0.254). In addition, no significant associations were observed between VDR polymorphisms and MI phenotypes (P=0.460). However, the results of the casewise multiple regression analysis indicated that the ApaI genotypes accounted for 18% of injury severity (P=0.002). Therefore, while the BsmI and FokI polymorphisms did not appear to be associated with the severity or incidence of MI, the ApaI genotypes may have influenced the severity of muscle injury in top-level football players.
Functional R577X (rs.1815739) and ID (rs.5186) polymorphisms in the alpha-actinin-3 ( ACTN3) and the angiotensin converting enzyme (ACE) genes, respectively, have been associated with sprint performance. The aim of this study was to determine their effect on sprint performance among 81 Israeli sprinters and 240 healthy controls. Results revealed that the ACE II genotype+ ACTN3 R allele (P=0.003 for sprinters vs. controls), and the ACTN3 RR genotype +ACE I allele (P=0.001 for sprinters vs. controls) might be the genotype for sprinters. In the whole cohort the probability of ACTN3 RR genotype+ ACE I allele being a sprinter (odds ratio 2.67, 95% confidence interval 1.45-4.93) and of ACE II genotype+ ACTN3 R allele being a sprinter (odds ratio 3.57, 95% confidence interval 1.78-7.15) was significantly higher than that in the controls. In conclusion, the above data suggest that ACE ID/ ACTN3 R577X genotype combination is associated with sprint ability. However, ACE ID/ ACTN3 R577X genotype combination is not related to the level of performance.
Endurance and power performance capacities show much interindividual variation, even among well trained athletes. In the past few years the research was focus on the analysis of the relationship between physiology, biochemistry and genetics in the field of physical exercise, investigating on the inheritance of some traits of performance, on the genetic and molecular basis of training adaptation and on the different indicators of performance.Recently, several studies have shown evidence of the important role of gene polymorphisms in athletic performance. Genetic analysis can be considered a crucial predictive factor only when the gene under scrutiny has a strong influence in a specific physiological pathway or when physiological tests are weakly predictive of adult performance. It is noteworthy that genetic association studies must always be interpreted with caution, for several reasons. It is necessary to verify if the association is attributable to chance or is a false positive result. The association between gene and performance phenotype could even be a consequence of a lack of homogeneity in the genetic substrate of the samples under scrutiny, which could be from different ethnic groups. The number of genes potentially correlated with sport performance is increasing steadily: today it includes 165 autosomal genes and five on the X chromosome. Moreover, there are 17 mitochondrial DNA (mtDNA) genes in which sequence variants influence both fitness and performance phenotypes. Here we review some of the most studied genes on autosomes and in mtDNA that are correlated with potential performance or fitness phenotypes.
Human physical performance is strongly influenced by genetic factors. A variation in the structure of the human angiotensin I-converting enzyme (ACE) gene has been reported in which the insertion (I) variant is associated with lower ACE levels than the deletion (D) gene. We have previously reported that the I variant was associated with improved endurance performance in high-altitude mountaineers and British Army recruits. We now examine this genotype distribution in 91 British Olympic-standard runners (79 Caucasians). DNA was extracted from the buccal cells contained in 10 ml of saline mouthwash donated by the subjects, and the I and D variants of the ACE gene were identified by PCR amplification of the polymorphic region. There was an increasing frequency of the I allele with distance run [0.35, 0.53, and 0.62 for </=200 m (n = 20), 400-3,000 m (n = 37), and >/=5,000 m (n = 34), respectively; P = 0.009 for linear trend]. Among 404 Olympic-standard athletes from 19 other mixed sporting disciplines (in which endurance performance was not necessarily a key factor), the I allele did not differ significantly from that found in control subjects: 0.50 vs. 0.49 (P = 0.526). These results support a positive association of the I allele with elite endurance performance.
Several studies have reported that the insertion (I) allele of the angiotensin-converting enzyme (ACE) I/deletion (D) polymorphism is associated with enhanced responsiveness to endurance training and is more common in endurance athletes than in sedentary controls. We tested the latter hypothesis in a cohort of 192 male endurance athletes with maximal oxygen uptake >/=75 ml. kg(-1). min(-1) and 189 sedentary male controls. The ACE ID polymorphism in intron 16 was typed with the three-primer polymerase chain reaction method. Both the genotype (P = 0.214) and allele (P = 0.095) frequencies were similar in the athletes and the controls. Further analyses in the athletes revealed no excess of the I allele among the athletes within the highest quartile (> 80 ml. kg(-1). min(-1)) or decile (>83 ml. kg(-1). min(-1)) of maximal oxygen uptake. These data from the GENATHLETE cohort do not support the hypothesis that the ACE ID polymorphism is associated with a higher cardiorespiratory endurance performance level.
A polymorphism of the human angiotensin-1-converting enzyme (ACE) gene has been identified in which the presence (insertion, I allele) of a 287-bp fragment rather than the absence (deletion, D allele) is associated with lower ACE activity. Several recent studies have shown an association of the I allele with endurance performance, it being found with excess frequency in elite distance runners, rowers and mountaineers. Other workers using heterogeneous cohorts of athletes from mixed sporting disciplines have found no such association. An increasing linear trend of I allele frequency with the distance run amongst Olympic runners and an excess of the D allele amongst sprinters led us to examine whether the ratio of I and D alleles in swimmers competing over different distances would also vary. Swimmers (n=120) from the European and Commonwealth championships and an American college team had their ACE genotype determined and their gene and allele frequencies compared with several control groups, the most closely age-matched of which were 1,248 military recruits. Of the 103 Caucasians, there was a significant excess of the D allele compared with this control group only in the truly elite swimmers of the European and Commonwealth championships (P=0.004). This association remained in those competing over shorter distances (P=0.005 for 400 m and below) but not in the longer events. These findings were confirmed in three further large control groups. A population association study testing whether a genetic marker (the ACE I/D polymorphism) occurs more frequently in cases (elite athletes) than in controls therefore requires a homogeneous cohort of subjects from the same sporting discipline.
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Accumulating evidence suggests that athletic performance is strongly influenced by genetic variation. One such locus of influence is the gene for angiotensin-I converting enzyme (ACE), which exhibits a common variant [ACE insertion (I)/deletion (D)]. ACE can drive formation of vasoconstrictor ANG II but preferentially degrades vasodilator bradykinin. The ACE I allele is associated with higher kinin activity. A common gene variant in the kinin beta(2) receptor (B(2)R) exists: the -9 as opposed to +9 allele is associated with higher receptor mRNA expression. We tested whether this variant was associated with the efficiency of muscular contraction [delta efficiency (DE)] in 115 healthy men and women, or with running distance among 81 Olympic standard track athletes. We further sought evidence of biological interaction with ACE I/D genotype. DE was highly significantly associated with B(2)R genotype (23.84 +/- 2.41 vs. 24.25 +/- 2.81 vs. 26.05 +/- 2.26% for those of +9/+9 vs. +9/-9 vs. -9/-9 genotype; n = 25, 61, and 29, respectively; P = 0.0008 for ANOVA adjusted for sex). There was evidence for interaction with ACE I/D genotype, with individuals who were ACE II, with B(2)R -9/-9 having the highest DE at baseline. The ACE I/B(2)R -9 "high kinin receptor activity" haplotype was significantly associated with endurance (predominantly aerobic) event among elite athletes (P = 0.003). These data suggest that common genetic variation in the B(2)R is associated with efficiency of skeletal muscle contraction and with distance event of elite track athletes and that at least part of the associations of ACE and fitness phenotypes is through elevation of kinin activity.
High-speed actions are known to impact soccer performance and can be categorized into actions requiring maximal speed, acceleration, or agility. Contradictory findings have been reported as to the extent of the relationship between the different speed components. This study comprised 106 professional soccer players who were assessed for 10-m sprint (acceleration), flying 20-m sprint (maximum speed), and zigzag agility performance. Although performances in the three tests were all significantly correlated (p < 0.0005), coefficients of determination (r(2)) between the tests were just 39, 12, and 21% for acceleration and maximum speed, acceleration and agility, and maximum speed and agility, respectively. Based on the low coefficients of determination, it was concluded that acceleration, maximum speed, and agility are specific qualities and relatively unrelated to one another. The findings suggest that specific testing and training procedures for each speed component should be utilized when working with elite players.
Differences in ACTN3 (alpha-actinin 3) genotypes have been reported among endurance and power athletes. Elite athletic performance in endurance sports should also depend on mitochondrial oxidative phosphorylation (OXPHOS) that produces ATP for muscle metabolism. We determined mitochondrial DNA (mtDNA) and ACTN3 genotypes in Finnish elite endurance (n = 52) and sprint (n = 89) athletes, and found that the frequencies of mtDNA haplogroups differed significantly between the two groups. Most notably, none of the endurance athletes belonged to haplogroup K or subhaplogroup J2, both of which have previously been associated with longevity. The frequency of ACTN3 XX genotype was higher and that of RR was lower among Finnish endurance athletes, and, in addition, none of the top Finnish sprinters had the XX genotype. Lack of mtDNA haplogroup K and subhaplogroup J2 among elite endurance athletes suggests that these haplogroups are 'uncoupling genomes'. Such genomes should not be beneficial to endurance-type athletic performance but should be beneficial to longevity, since uncoupling of OXPHOS reduces the production of ATP, reduces the release of reactive oxygen species and generates heat.
alpha-Actinin-3 is a Z-disc structural protein found only in type II muscle fibers. The X allele of the R577X polymorphism in the ACTN3 gene results in a premature stop codon and alpha-actinin-3 deficiency in XX homozygotes. Associations between the R577X polymorphism and the muscle-power performance of elite athletes have been described earlier. About 45% of the fiber type proportions are determined by genetic factors. The ACTN3 variant could be one of the contributing genes in the heritability of fiber type distribution through its interaction with calcineurin. The aim of this study was to quantify the association between the polymorphism and muscle fiber type distribution and fast-velocity knee extension strength. Ninety healthy young men (18-29 y) were genotyped for ACTN3 R577X. Knee extensor strength was measured isometrically (45 degrees ) and at different dynamic velocities (100-300 degrees /s) on a programmable dynamometer. Twenty-two XX and twenty-two RR subjects underwent a biopsy of the right vastus lateralis muscle. Fiber type composition was determined by immunohistochemistry. Homozygotes for the R allele show significantly higher relative dynamic quadriceps torques at 300 degrees /s, compared with XX carriers (P < 0.05). Fiber type characteristics differed significantly between the two genotype groups. The percentage surface and number of type IIx fibers were greater in the RR than the XX genotype group (P < 0.05), and alpha-actinin-3 protein content is systematically higher in type IIx compared with type IIa fibers (staining intensity ratio IIx to IIa = 1.17). This study shows that the mechanism, by which the ACTN3 polymorphism has its effect on muscle power, might rely on a control function of fiber type proportions.
The angiotensin converting enzyme (ACE) polymorphism is the most studied genetic marker in the field of human performance. There is a continuing debate in the literature regarding the possible association of ACE genotypes and elite athletic status. In fact, despite recent studies having identified no significant associations in athletes from mixed sporting disciplines, other researchers suggest that the insertion (I) variant may be associated with elite endurance performance, and the deletion (D) variant can be over-represented among elite sprinters. The purpose of the present study was to determine, for the first time, the association between the ACE genotypes and sprint athlete status among elite Italian gymnasts. To test this hypothesis, we assessed 33 elite Italian gymnasts (17 males, 16 females) and a control group of 53 (31 males, 22 females) unrelated sedentary individuals. DNA was extracted from each participant using a buccal swab and the ACE I/D polymorphism was determined using PCR while different amplified fragments were detected by electrophoresis using agarose gel and ethidium bromide staining. The ACE genotypes and allele frequencies among gymnasts (DD, ID, II=0.39, 0.48, 0.12, respectively; D allele=0.64) were not significantly different from those of Italian sedentary controls (DD, ID, II=0.39, 0.45, 0.15, respectively; D allele=0.62). However, the frequencies of our control group were similar to those observed in a sample of Italian sedentary individuals, and different to those of the general Caucasian population reported by other authors. Furthermore, the frequencies of our control group did not differ from those reported in other association studies involving elite sprint athletes. Our results suggest a lack of association between the ACE I/D polymorphism and elite gymnastics performance in Italians.
Environmental stimuli interact with common genetic variants to determine individual characteristics including physical performance: 80% of variation in arm eccentric flexor strength and grip strength may be genetically determined. However, many physical characteristics and physiological processes determine physical performance, and each is regulated by a large number of genes: strong genetic influences on maximum exertional oxygen uptake, heart size, lean mass, skeletal muscle growth, and bone mineral density have all been described. To date few variants strongly influencing global performance have been identified. One such is the presence (Insertion, I allele) rather than absence (Deletion, D allele) of a DNA segment in the gene encoding angiotensin-converting enzyme (ACE): The I allele has been associated with fatigue resistance/endurance, and the D-allele with strength gain.
A simple test for the measurement of mechanical power during a vertical rebound jump series has been devised. The test consists of measuring the flight time with a digital timer (0.001 s) and counting the number of jumps performed during a certain period of time (e.g., 15–60 s). Formulae for calculation of mechanical power from the measured parameters were derived. The relationship between this mechanical power and a modification of the Wingate test (r=0.87, n=12 ) and 60 m dash (r=0.84, n=12 ) were very close. The mechanical power in a 60 s jumping test demonstrated higher values (20 WkgBW–1) than the power in a modified (60 s) Wingate test (7 WkgBW–1) and a Margaria test (14 WkgBW–1). The estimated powers demonstrated different values because both bicycle riding and the Margaria test reflect primarily chemo-mechanical conversion during muscle contraction, whereas in the jumping test elastic energy is also utilized. Therefore the new jumping test seems suitable to evaluate the power output of leg extensor muscles during natural motion. Because of its high reproducibility (r=0.95) and simplicity, the test is suitable for laboratory and field conditions.
This review of the exercise genomics literature emphasizes the strongest articles published in 2010 as defined by sample size, quality of phenotype measurements, quality of the exercise program or physical activity exposure, study design, adjustment for multiple testing, quality of genotyping, and other related study characteristics. One study on voluntary running wheel behavior was performed in 448 mice from 41 inbred strains. Several quantitative trait loci for running distance, speed, and duration were identified. Several studies on the alpha-3 actinin (ACTN3) R577X nonsense polymorphism and the angiotensin-converting enzyme (ACE) I/D polymorphism were reported with no clear evidence for a joint effect, but the studies were generally underpowered. Skeletal muscle RNA abundance at baseline for 29 transcripts and 11 single nucleotide polymorphisms (SNPs) were both found to be predictive of the V˙O2max response to exercise training in one report from multiple laboratories. None of the 50 loci associated with adiposity traits are known to influence physical activity behavior. However, physical activity seems to reduce the obesity-promoting effects of at least 12 of these loci. Evidence continues to be strong for a role of gene-exercise interaction effects on the improvement in insulin sensitivity after exposure to regular exercise. SNPs in the cAMP-responsive element binding position 1 (CREB1) gene were associated with training-induced HR response, in the C-reactive protein (CRP) gene with training-induced changes in left ventricular mass, and in the methylenetetrahydrofolate reductase (MTHFR) gene with carotid stiffness in low-fit individuals. We conclude that progress is being made but that high-quality research designs and replication studies with large sample sizes are urgently needed.
We investigated the association of the angiotensin converting enzyme gene (ACE) insertion/deletion (I/D) polymorphism, alone or in combination with the α-actinin-3 gene (ACTN3) R577X polymorphism, with jumping (vertical squat and counter-movement jump tests) and sprint ability (30 m dash) in non-athletic, healthy young adults [N = 281 (214 male), mean (SD) age 21 (2) years]. We did not observe any effect of the ACE I/D polymorphism on study phenotypes. We repeated the analyses separately in men and women and the results did not materially change. Likewise, the mean estimates of the study phenotypes were similar in subjects with the genotype combinations ACE II + ID and ACTN3 XX or ACE DD and ACTN3 RR + RX. We found no association between the ACE DD and ACTN3 RR + RX genotype combination and performance (≥90th of the sex-specific percentile). In summary, though the ACE I/D polymorphism is a strong candidate to modulate some exercise-related phenotypes or athletic performance status, this polymorphism, alone or in combination with the ACTN3 R577X polymorphism, does not seem to exert a major influence in the muscle 'explosive' power of young healthy adults, as assessed during multi-joint exercise tests.
We examined the association of R577X polymorphism (rs1815739) in the α-actinin-3 (ACTN3) gene with "explosive" leg muscle power performance in a group of male and female elite volleyball players (n=66, 31 men, 35 women) and in a group of non-athletic male and female young adults (n=334, 243 men, 91 women). We assessed power performance by means of the vertical squat and counter-movement jump tests. We also determined whether the genotypic frequencies of the ACTN3 R577X genotypes differed between groups. We did not observe any effect of the ACTN3 R577X polymorphism on study phenotypes in both groups, regardless of gender (all P>0.05). Genotype frequencies were similar between volleyball and control groups (P=0.095). Moreover, we did not find an association between the ACTN3 R577X polymorphism and the likelihood of being an elite volleyball player using the dominant (RR vs RX+XX) and the recessive model (RR+RX vs XX). In summary, these findings suggest that the ACTN3 R577X polymorphism does not influence explosive leg muscle power in elite volleyball players.
An annual review publication of the most significant articles in exercise, fitness, and performance genomics begins with this article, which covers 2 yr, 2008 and 2009. The review emphasizes the strongest articles as defined by sample size, quality of phenotype measurements, quality of the exercise program or physical activity exposure, study design, adjustment for multiple testing, quality of genotyping, and other related study characteristics. With this avowed focus on the highest quality articles, only a small number of published articles are reviewed. Among the most significant findings reported here are a brief overview of the first genome-wide association study of the genetic differences between exercisers and nonexercisers. In addition, the latest results on the actinin alpha 3 (ACTN3) R577X nonsense polymorphism are reviewed, emphasizing that no definitive conclusion can be reached at this time. Recent studies that have dealt with mitochondrial DNA haplogroups and endurance performance are described. Published reports indicating that physical activity may attenuate the effect of the fat mass and obesity associated (FTO) gene risk allele on body mass index are reviewed. Articles that have tested the contributions of specific genes to the response of glucose and insulin metabolism traits to regular exercise or physical activity level are considered and found to be generally inconclusive at this stage. Studies examining ethnic differences in the response of blood lipids and lipoproteins to exercise training cannot unequivocally relate these to apolipoprotein E (APOE) genotypes. Hemodynamic changes with exercise training were reported to be associated to sequence variation in kinesin heavy chain (KIF5B), but no replication study is available as of yet. We conclude from this first installment that exercise scientists need to prioritize high-quality research designs and that replication studies with large sample sizes are urgently needed.
Using the model originally developed by Williams and Folland (J Physiol 586: 113-121, 2008), we determined 1) a "total genotype score" (TGS, from the accumulated combination of the 6 polymorphisms, with a maximum value of "100" for the theoretically optimal polygenic score) in a group of elite power athletes, endurance athletes, and nonathletic controls, and 2) the probability for the occurrence of Spanish individuals with the "perfect" power-oriented profile (i.e., TGS = 100). We analyzed six polymorphism that are candidates to explain individual variations in elite power athletic status or power phenotypes (ACE I/D, ACTN3 R577X, AGT Met235Thr, GDF-8 K153R, IL6 -174 G/C, and NOS3 -786T>C) in 53 elite track and field power athletes (jumpers, sprinters), 100 nonathletic controls, and 100 elite endurance athletes (distance runners and road cyclists) (all Spanish Caucasian males). The mean TGS was significantly higher in power athletes (70.8 +/- 17.3) compared with endurance athletes (60.4 +/- 15.9; P < 0.001) and controls (63.3 +/- 13.2; P = 0.012), whereas it did not differ between the latter two groups (P = 0.366). A total of five power athletes (9.4%, all sprinters) had a theoretically "optimal" TGS of 100 vs. 0 subjects in the other two groups. The probability of a Spanish individual possessing a theoretically optimal polygenic profile for up to the six candidate polymorphisms we studied was very small, i.e., approximately 0.2% (or 1 in 500 Spanish individuals). We have identified a polygenic profile that allows us, at least partly, to distinguish elite power athletes from both endurance athletes and nonathletic population.
The angiotensin-converting enzyme (ACE) and the alpha-actinin-3 (ACTN3) genes are two of the most studied "performance genes" and both have been associated with sprint/power phenotypes and elite performance.
To investigate the association between the ACE and the ACTN3 genotypes and sprint athlete status in elite Jamaican and US African American sprinters.
The ACTN3 R577X and the ACE I/D and A22982G (rs4363) genotype distributions of elite Jamaican (J-A; N = 116) and US sprinters (US-A; N = 114) were compared with controls from the Jamaican (J-C; N = 311) and US African American (US-C; N = 191) populations. Frequency differences between groups were assessed by exact test.
For ACTN3, the XX genotype was found to be at very low frequency in both athlete and control cohorts (J-C = 2%, J-A = 3%, US-C = 4%, US-A = 2%). Athletes did not differ from controls in ACTN3 genotype distribution (J, P = 0.87; US, P = 0.58). Similarly, neither US nor Jamaican athletes differed from controls in genotype at ACE I/D (J, P = 0.44; US, P = 0.37). Jamaican athletes did not differ from controls for A22982G genotype (P = 0.28), although US sprinters did (P = 0.029), displaying an excess of heterozygotes relative to controls but no excess of GG homozygotes (US-C = 22%, US-A = 18%).
Given that ACTN3 XX genotype is negatively associated with elite sprint athlete status, the underlying low frequency in these populations eliminates the possibility of replicating this association in Jamaican and US African American sprinters. The finding of no excess in ACE DD or GG genotypes in elite sprint athletes relative to controls suggests that ACE genotype is not a determinant of elite sprint athlete status.
We determined whether the polygenic profile computed with seven candidate polymorphisms (i.e., ACE, ACTN3, AMPD1, CKMM, HFE, GDF-8 and PPARGC1A) for endurance performance is different in 39 world-class and 15 national-class Spanish (Caucasian) lightweight rowers. The second purpose was to examine the impact of possessing a "preferable" polygenic profile on the sport success in terms of the number of medals won in World and National Championships. Finally, we also compared the polygenic profile of world- and national-class Spanish rowers with that of the general Spanish population. The polygenic profile did not differ between groups of rowers. We did not observe an association between having a preferable polygenic profile and medals won in World and National Championships. Finally, we observed that rowers tend to have a more "favorable" polygenic profile than the general Spanish population. These findings argue against the idea that genetic endowment differentiates athletic champions from elite, yet less accomplished athletes. In contrast, we cannot discard the fact that, overall, elite athletes are endowed with a more "favorable" polygenic profile than the general population.
The ACTN3 (R577X) gene encodes for a structural protein that is exclusively expressed in the Z-disc of type II muscle fibers. Homozygosis (577XX) for the stop codon in the ACTN3 polymorphism results in alpha-actinin-3 complete deficiency. Previous studies have shown low frequencies of the ACTN3 XX genotype in elite sprinters compared to the general population. This study tests 35 Italian elite gymnasts and 53 controls. ACTN3 XX genotype (2.8% vs. 18.8%; p < 0.04) and X allele (27.1% vs. 43.3%; p < 0.04) frequencies were significantly lower in gymnasts compared to controls. The ACTN3 XX genotype was underrepresented in female and male gymnasts compared to controls, but was only significant for males (male: 0% vs. 16.1%, p < 0.04; female: 5.5% vs. 22.7%, p = 0.39). These results suggest that alpha-actinin-3 is beneficial to skeletal muscle function in generating forceful contractions at high velocity. In conclusion, our results associated the ACTN3 R577X polymorphism with male and possibly female elite gymnastic performance.
We analysed seven genetic polymorphisms that are candidates to explain individual variations in human endurance phenotypic traits, at least in Caucasian people (ACE Ins/Del, ACTN3 Arg577Ter, AMPD1 Gln12Ter, CKMM 1170 bp/985 + 185 bp, HFE His63Asp, GDF-8 Lys153Arg and PPARGC1A Gly482Ser) in 46 world-class endurance athletes and 123 controls (all Spanish Caucasians). Using the model developed by Williams & Folland we determined (1) the 'total genotype score' (TGS, from the accumulated combination of the seven polymorphisms, with a maximum value of '100' for the theoretically optimal polygenic score) in the non-athlete (control) group, in the athlete group and in the total Spanish population, and (2) the probability for the occurrence of Spanish individuals with the 'perfect' polygenic endurance profile (i.e. TGS = 100). The probability of a Spanish individual possessing a theoretically optimal polygenic profile for up to the seven candidate genetic polymorphisms we studied was very small, i.e. approximately 0.07% (or 1 in 1351 Spanish individuals). The mean TGS was higher in athletes (70.22 +/- 15.58) than in controls (62.43 +/- 11.45) and also higher than predicted for the total Spanish population (60.80 +/- 12.1), suggesting an overall more 'favourable' polygenic profile in the athlete group. However, only three of the best Spanish endurance athletes (who are also amongst the best in the world) had the best possible score for up to six genes and none of them had the optimal profile. Other polymorphisms yet undiscovered as well as several factors independent of genetic endowment may explain why some individuals reach the upper end of the endurance performance continuum.
Using the forearm technique, the effect of bradykinin on muscular blood flow and glucose uptake in healthy man in the postabsorptive state (n = 8) was studied at different doses of an intra-arterial infusion of bradykinin (2.5-150 ng/min). The blood flow of the forearm was increased dose-dependently from basal 2.8 +/- 0.3 up to 14.7 +/- 2.8 ml/(100 g X min). At lower bradykinin concentrations (2.5-25 ng/min), muscular glucose uptake was raised parallel to the increased blood flow from basal 0.71 +/- 0.30 to 2.93 +/- 0.50 mumol/(100 g X min). However, at higher doses (50-150 ng/min) glucose uptake was decreased again. Thus, the greatest metabolic effect of bradykinin was seen at a calculated bradykinin concentration of approximately 1 X 10(-9)M in the blood.
Skeletal muscle glucose metabolism appears to be regulated by locally derived factors as well as by systemically circulating hormones. Local factors may be particularly important during exercise, when substrate demand can increase rapidly. Numerous studies in perfused limbs suggest that the kallikrein-kinin system may participate in the regulation of substrate delivery and utilization by skeletal muscle. Evidence also suggests that kinins mediate the increase in insulin sensitivity after administration of converting enzyme inhibitors. Tissue kallikrein has been isolated and purified from rat skeletal muscles, and its level is highest in muscle with high oxidative activity. In other tissues, kallikrein synthesis is under the influence of insulin. It has not been possible to demonstrate effects of kallikrein or kinins on glucose metabolism in isolated skeletal muscle or cardiocytes. Therefore modulation of glucose metabolism by kallikrein or kinins may only be observed in intact perfused tissues or organs.
The B2-bradykinin receptor gene has been proposed as one of the candidate genes involved in the complex genetic underpinnings of common chronic disorders such as hypertension, ischemic heart disease or allergic asthma. Suitable genetic markers are needed to study these hypotheses. Therefore, it was our aim to identify polymorphic sites in the B2-receptor gene. Up to now, we characterized four polymorphisms: one in the promoter region and three other ones in each of the exons. Possible biological consequences are delineated and preliminary results of allele specific different biological action are shown.
ACE inhibitors potentiate kinin-nitric oxide (NO)-dependent coronary vascular dilation, and NO can modulate myocardial oxygen consumption. Whether ACE inhibitors also affect myocardial O2 consumption has not been established.
Production of nitrite, a metabolite of NO in aqueous solution, in coronary microvessels and O2 consumption in myocardium were quantified with the use of in vitro tissue preparations, the Greiss reaction, and a Clark-type O2 electrode. In coronary microvessels, kininogen (the precursor of kinin; 10 micrograms/mL) and three ACE inhibitors (captopril, enalaprilat, or ramiprilat; 10(-8) mol/L) increased nitrite production from 76 +/- 6 to 173 +/- 15, 123 +/- 12, 125 +/- 12, and 153 +/- 12 pmol/mg, respectively (all P < .05). In myocardium, kininogen (10 micrograms/mL) and captopril, enalaprilat, or ramiprilat (10(-4) mol/L) reduced cardiac O2 consumption by 41 +/- 2%, 19 +/- 3%, 25 +/- 2%, and 35 +/- 2%, respectively. The changes in both nitrite release and O2 consumption in vitro were blocked by N omega-nitro-L-arginine methyl ester or N omega-nitro-L-arginine, inhibitors of endogenous NO formation. The effects were also blocked by HOE 140, which blocks the bradykinin B2-kinin receptor, and serine protease inhibitors, which inhibit local kinin formation.
Our data indicate that stimulation of local kinin formation by use of a precursor for kinin formation or inhibition of kinin degradation by use of ACE inhibitors increases NO formation and is important in the control of cardiac O2 consumption. Vasodilation and control of myocardial O2 consumption by NO may contribute importantly to the therapeutic actions of ACE inhibitors in cardiac disease states.
Angiotensin-converting-enzyme (ACE) activity regulates left-ventricular growth. The deletion (D), rather than the insertion (I), ACE gene variant is associated with increased ACE activity and kinin degradation, and the absence (-) rather than the presence (+) of a 9 bp deletion in the gene encoding the bradykinin 2 receptor (B2BKR) is associated with greater gene expression. We determined the ACE and B2BKR genotype of 109 male army recruits, and measured their physiological left-ventricular growth response to a 10-week physical training programme. Mean left-ventricular growth was 15.7 g (SE 3.5) in those with ACE genotype D/D and B2BKR genotype +9/+9, but -1.37 g (4.1) in those with ACE genotype I/I and B2BKR genotype -9/-9 (p=0.003 for trend across genotypes). These results suggest that kinins regulate left-ventricular growth, mediating some of the effects of ACE in this regard.
Bradykinin is known to cause vasodilatation in resistance vessels and may, together with adenosine, be an important regulator of tissue blood flow during exercise. Whether tissue concentrations of bradykinin change with exercise in skeletal muscle and tendon-related connective tissue has not yet been established. Microdialysis (molecular mass cut-off 5 kDa) was performed simultaneously in calf muscle and peritendinous Achilles tissue at rest and during 10 min periods of incremental (0.75 W, 2 W, 3.5 W and 4.75 W) dynamic plantar flexion exercise in 10 healthy individuals (mean age 27 years, range 22-33 years). Interstitial bradykinin and adenosine concentrations were determined using an internal reference to determine relative recovery ([2,3,prolyl-3,4-(3)H(N)]-bradykinin and [2-(3)H]-adenosine). Bradykinin and adenosine recovery were closely related and in the range of 30-50 %. The interstitial concentration of bradykinin rose in response to exercise both in skeletal muscle (from 23.1 +/- 4.9 nmol l(-1) to 110.5 +/- 37.9 nmol l(-1); P < 0.05) and in the peritendinous tissue (from 27.7 +/- 7.8 nmol l(-1) to 105.0 +/- 37.9 nmol l(-1); P < 0.05). In parallel, the adenosine concentration increased both in muscle (from 0.48 +/- 0.07 micromol l(-1) to 1.59 +/- 0.35 micromol l(-1); P < 0.05) and around the tendon (from 0.33 +/- 0.03 micromol l(-1) to 0.86 +/- 0.16 micromol l(-1); P < 0.05). In conclusion, the data show that muscular activity increases the interstitial concentrations of bradykinin and adenosine in both skeletal muscle and the connective tissue around its adjacent tendon. These findings support a role for bradykinin and adenosine in exercise-induced hyperaemia in skeletal muscle and suggest that bradykinin and adenosine are potential regulators of blood flow in peritendinous tissue.
The I allele of the angiotensin I-converting enzyme (ACE) gene is associated with lower ACE activity and endurance performance; an excess occurs in elite distance runners, rowers, and mountaineers, perhaps secondary to enhanced muscle efficiency. Conversely, the D allele is associated with training-related strength gain and elite power-oriented performance secondary to increased ACE and angiotensin II, a growth factor.
A local renin-angiotensin system (RAS) may be suggested by evidence of gene expression of RAS components within the tissue as well as physiological responsiveness of this gene expression. This review will focus on the evidence supporting the existence of the constituent elements of a physiologically functional paracrine muscle RAS. The effect of local skeletal muscle RAS on human exercise performance will be explored via its relation with pharmacological intervention and genetic studies. The most likely configuration of the muscle RAS is a combination of in situ synthesis and uptake from the circulation of RAS components. A reduction in angiotensin-converting enzyme (ACE) activity reverses the decline in physical performance due to peripheral muscle factors in those with congestive heart failure and may halt or slow decline in muscle strength in elderly women. Genetic studies suggest that increased ACE and angiotensin II (Ang II) mediate greater strength gains perhaps via muscle hypertrophy whereas lower ACE levels and reduced bradykinin (BK) degradation mediate enhanced endurance performance perhaps via changes in substrate availability, muscle fibre type and efficiency.
Human physical performance is influenced by genetic factors. A variation in the human angiotensin I-converting enzyme (ACE) gene has been identified, in which the insertion (I) variant may be associated with elite endurance performance, and the deletion (D) variant seems overrepresented amongst elite sprinters and short-distance swimmer status. We might thus anticipate I-allele frequency to be elevated amongst swimmers competing over very much greater distances, and have examined this hypothesis. Thirty-five truly elite very-long-distance swimmers were classified as better at 1- to 10-km distances (n=19, SLD group) or those best at 25-km races (n=16, LLD group). Genotype frequencies (II versus ID versus DD) differed between the two groups: 6% versus 47% versus 47% for SLD, and 18.8% versus 75% versus 6.2% for LLD (P=0.01). I-allele frequency was 0.29 for the shorter distance swimmers, and 0.59 for the 25 km group. These data are consistent with an association of ACE I allele with longer distance swimming, and the ACE D allele with swimming shorter distances.
The alpha-actinins are an ancient family of actin-binding proteins that play structural and regulatory roles in cytoskeletal organisation and muscle contraction. alpha-actinin-3 is the most-highly specialised of the four mammalian alpha-actinins, with its expression restricted largely to fast glycolytic fibres in skeletal muscle. Intriguingly, a significant proportion ( approximately 18%) of the human population is totally deficient in alpha-actinin-3 due to homozygosity for a premature stop codon polymorphism (R577X) in the ACTN3 gene. Recent work in our laboratory has revealed a strong association between R577X genotype and performance in a variety of athletic endeavours. We are currently exploring the function and evolutionary history of the ACTN3 gene and other alpha-actinin family members. The alpha-actinin family provides a fascinating case study in molecular evolution, illustrating phenomena such as functional redundancy in duplicate genes, the evolution of protein function, and the action of natural selection during recent human evolution.
Kinins are key pro-inflammatory peptides that exhibit mitogenic effects in tissue-specific cellular systems. Since the life span of the keratinocyte is regulated by receptors that control proliferation and differentiation, and since both processes are affected during wound healing, we have examined the consequence of kinin B2 receptors (B2R) activation in cultured human keratinocytes. Stimulation of keratinocytes by Lys-bradykinin (LBK) induced a rapid and sustained phosphorylation of 42/44 mitogen-activated protein kinase (MAPK) that translocated to the nucleus, and decreased only after 120 min of stimulation. Kinin B1 and B2 receptor (B1R and B2R) antagonists showed that phosphorylation was mainly because of B2R activation. The GF109203X inhibitor almost completely abolished the effect of LBK, suggesting the involvement of protein kinase C in the signal cascade. MAPK phosphorylation was partially dependent on epidermal growth factor receptor transactivation as assessed by the selective inhibitor, AG1478. LBK stimulation did not result in cell proliferation, but produced a rapid c-Fos expression, nuclear translocation of nuclear factor-kappaB, and a moderated (pro)filaggrin synthesis, indicating that it may modulate cell differentiation. Our results support the view that kinins may affect the life span of human keratinocytes and highlight the importance that kinin peptides may have in the pathogenesis and/or progression of skin diseases.
The authors studied the frequency distribution of alpha-actinin-3 (ACTN3) R577X genotypes in 60 top-level professional soccer players. The results were compared with those of 52 elite endurance athletes and 123 sedentary controls. The per cent distribution of RR and RX genotypes in soccer players (48.3% and 36.7%) was significantly higher and lower, respectively, than controls (28.5% and 53.7%) and endurance athletes (26.5% and 52%) (p = 0.041). Although there are notable exceptions, elite soccer players tend to have the sprint/power ACTN3 genotype.
The study of genetic influence in the making of an Olympic champion is still in its nascence, but recent work has provided findings regarding the association of the ACTN3 gene on athletic performance. The aim of this study was to examine genetic differences among elite Greek track and field athletes by analysing a mononucleotide polymorphism in exon 15 of the ACTN3 gene. Results showed that ACTN3 genotype and allele frequencies in the top power-oriented athletes were statistically significantly different from those in a representative random sample of the Greek population: the frequency of the RR ACTN3 genotype in power-oriented athletes vs. the general population was 47.94 % vs. 25.97 %. This result was even more prominent for comparison of the subgroup of sprinters to controls. The results suggest an overall strong association between the presence of the RR genotype and elite power performance.
Human physical capability is influenced by many environmental and genetic factors, and it is generally accepted that physical capability phenotypes are highly polygenic. However, the ways in which relevant polymorphisms combine to influence the physical capability of individuals and populations are unknown. Initially, the literature was searched to identify associations between 23 genetic polymorphisms and human endurance phenotypes. Next, typical genotype frequencies of those polymorphisms in the general population were obtained from suitable literature. Using probability calculations, we found only a 0.0005% chance of a single individual in the world having the 'preferable' form of all 23 polymorphisms. As the number of DNA variants shown to be associated with human endurance phenotypes continues to increase, the probability of any single individual possessing the 'preferable' form of each polymorphism will become even lower. However, with population turnover, the chance of such genetically gifted individuals existing increases. To examine the polygenic endurance potential of a human population, a 'total genotype score' (for the 23 polymorphisms) was calculated for each individual within a hypothetical population of 1000 000. There was considerable homogeneity in terms of genetic predisposition to high endurance potential, with 99% of people differing by no more than seven genotypes from the typical profile. Consequently, with population turnover world and Olympic records should improve even without further enhancement of environmental factors, as more 'advantageous' polygenic profiles occasionally, though rarely, emerge. More broadly, human potential appears limited by the similarity of polygenic profiles at both the 'elite sport' and 'chronic disorder' ends of the performance continuum.
Strength training and kick performance in soccer players ACTN3 (R577X) genotype is associated with fiber type distribution
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- J Cabri
- W Dufour
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- A Lees
- M K Davids
De Proft E, Cabri J, Dufour W, Clarys J. Strength training and kick performance in soccer players. In: Reilly T, Lees A, Davids K, energy, whichputte M, Hespel P et al. ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics 2007;32:58-63.
A comparative study of explosive leg strength in elite and non-elite young soccer players
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Garganta J, Maia J, Silva R, Natal A. A comparative study of explosive leg strength in elite and non-elite young soccer players. J Sports
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- De K Bock
- Ramaekers M Van
- Van Leem-M I N E R V A M E D I C A C O P Y R I G H T ® E Eede
Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leem-M I N E R V A M E D I C A C O P Y R I G H T ® This document is protected by international copyright laws. No additional reproduction is authorized. It is permitted for personal use to download and save only one file
—The project was financed by Regione Autonoma della Sardegna, by means of Master and Back Programme 2008 - Post Doc Research of Myosotis Massidda, PhD)
- Funding
Funding.—The project was financed by Regione Autonoma della Sardegna, by means of Master and Back Programme 2008 - Post Doc Research of Myosotis Massidda, PhD).
Strength training and kick performance in soccer players
- De Proft
- E Cabri
- J Dufour
- W Clarys
- J Reilly
- T Lees
- A Davids
De Proft E, Cabri J, Dufour W, Clarys J. Strength training and kick
performance in soccer players. In: Reilly T, Lees A, Davids K,
THE JOURNAL OF SPORTS MEDICINE AND PHYSICAL FITNESS
June 2012
Science and Football. London: E & FN Spon
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Murphy WJ, editors. Science and Football. London: E & FN Spon;
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