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In recent years there has been a great progress in molecular biology techniques, which has facilitated the researches on influence of genetics on human performance. There are specific regions of DNA that can vary between individuals. Such variations (i.e., polymorphisms) may, in part, explain why some individuals have differentiated responses to ce...
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Context 1
... traits that are relevant to sports performance are quantitative, meaning that they are possible to be measured and quanti ed. Some examples of quantitative traits that are relevant to physical performance are: body composition, aerobic power and muscle strength. In some cases, the nal outcome of sport performance can also be a quantitative trait. For examples, swimming distance times, running races, jumps, throws and all other sports in which nal performance is quantii able can be considered quantitative traits. In other cases, however, sports performance "per se" is not a quantitative trait. is is the case of unpredictable sports, such as team sports, individual sports that depend on natures' conditions (e.g., sur ng and sailing) and individual sports that depend on opponents' actions (e.g., combat sports). eoretically, some performance- relevant quantitative traits are strongly in uence by genetic factors, which is also the case of some "predictable sports" (FIGURE 1). On the other hand, other traits as well as "unpredictable sports" are less inn uenced by genetic factors (FIGURE 1) and, therefore, genotype-phenotype relationships are less likely to be established. is must be kept in mind when performing association studies, as latter discussed in this review. Over the past 15 years, there has been a great e ort to identify, at the molecular level, variations in DNA sequence that may contribute to sports performance or to any trait that is relevant to sport performance, so-called genotype-phenotype correlations. However, in complex polygenic multifactorial traits, genotype- phenotype correlations are often elusive and di cult to be clearly identii ...
Context 2
... traits that are relevant to sports performance are quantitative, meaning that they are possible to be measured and quanti ed. Some examples of quantitative traits that are relevant to physical performance are: body composition, aerobic power and muscle strength. In some cases, the nal outcome of sport performance can also be a quantitative trait. For examples, swimming distance times, running races, jumps, throws and all other sports in which nal performance is quantii able can be considered quantitative traits. In other cases, however, sports performance "per se" is not a quantitative trait. is is the case of unpredictable sports, such as team sports, individual sports that depend on natures' conditions (e.g., sur ng and sailing) and individual sports that depend on opponents' actions (e.g., combat sports). eoretically, some performance- relevant quantitative traits are strongly in uence by genetic factors, which is also the case of some "predictable sports" (FIGURE 1). On the other hand, other traits as well as "unpredictable sports" are less inn uenced by genetic factors (FIGURE 1) and, therefore, genotype-phenotype relationships are less likely to be established. is must be kept in mind when performing association studies, as latter discussed in this review. Over the past 15 years, there has been a great e ort to identify, at the molecular level, variations in DNA sequence that may contribute to sports performance or to any trait that is relevant to sport performance, so-called genotype-phenotype correlations. However, in complex polygenic multifactorial traits, genotype- phenotype correlations are often elusive and di cult to be clearly identii ...
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Citations
... The predominant etiology of sports-related injuries is overuse injuries, resulting from repetitive stress and micro-traumas, sometimes culminating in severe traumatic injuries (Tarnowski et al. 2022). Genetic information has been shown to be associated with performance-related effects of sports training and predisposition to injuries (Guilherme et al. 2014, Ginevicien et al. 2022, Pfab et al. 2023). ...
Elite sports have become increasingly professionalized and personalized, with soccer players facing a high number of games per season. This trend presents significant challenges in optimizing training for peak performance and requires rigorous monitoring of athletes to prevent overload and reduce injury risks. The emerging field of epigenetic clocks offers promising new pathways for developing useful biomarkers to enhance training management. This study investigates the effects of intense physical activity on epigenetic age markers in professional soccer players. We analyz DNA methylation data from saliva samples collected before and after physical acctivity. Vigorous physical activity was found to have a rejuvenating effect on epigenetic clocks with significant decreases in DNAmGrimAge2 and DNAmFitAge observed immediately after games. Among player subgroups, midfielders exhibited the most substantial epigenetic rejuvenation effect following games. In addition, the study suggests a potential link between DNA methylation patterns and injury occurrence. Overall, our study suggests that DNA methylation based biomarkers may have applications in monitoring athlete performance and managing physical stress.
... Sports performance is recognized as a multifaceted and complex phenotype influenced by a variety of factors (Guilherme et al., 2014;Wang et al., 2013;Williams & Folland, 2008). Therefore, it is essential to acknowledge the role of numerous genetic polymorphisms, each contributing modestly to variations in performance (Guilherme et al., 2018;Wang et al., 2013;Williams & Folland, 2008). ...
The Relative Age Effect (RAE) suggests older athletes within an annual cohort have advantages over their younger peers. We hypothesized that younger athletes could overcome these disadvantages through favorable α-actinin-3 (ACTN3) and angiotensin converting enzyme (ACE) polymorphisms. This study aimed to: 1) examine RAE prevalence among Brazilian football players; 2) investigate the distribution of the ACTN3 and ACE polymorphisms; and 3) explore the association between polymorphisms and RAE across competitive levels and positions. The sample included 627 male players from first-division Brazilian teams in four age categories: U15 (n = 172), U17 (n = 166), U20 (n = 161), and Professionals (n = 128). A control group was established using data from the general Brazilian population documented in previous studies. Results showed RAE presence across all competitive levels and positions. Players with the ACTN3 R allele, especially the RR genotype, had the strongest associations with football players, particularly among defenders. On the other hand, the distribution of ACE polymorphism was not significantly different between controls and players, except in the U17 category, where the I/I genotype was more common. Relatively older players had higher total genotype scores than younger counterparts in the overall sample and defender subgroups. In conclusion, RAE is prevalent among Brazilian football players, with older athletes benefiting from favorable ACTN3 and ACE polymorphisms, contrary to our initial hypothesis.
... A 2011 meta-analysis of nine European cohorts, as well as a 2013 meta-analysis of fifteen studies, observed no significant association between the ACTN3 X/X genotype and endurance status in elite athletes (Alfred et al., 2011;Ma et al., 2013). However, several studies included in both meta-analyses were composed of aerobic disciplines of varying distances and durations in the endurance group, which is an interesting and widely accepted approach but may not work for all genes and variants (Guilherme et al., 2014). A recent meta-analysis was performed, including only long-distance runners (≥5000 m) and road cyclists, also a long-distance event and the ACTN3 X/X genotype was associated with endurance status in elite athletes (Konopka et al., 2022). ...
... There are a limited number of high-level athletes per population, which makes it difficult to collect large cohorts of athletes; however, the comparison between homogeneous groups (and the widest possible) is important for detecting true evidence of an association test (Guilherme et al., 2014). In general, small sample sizes can provide imprecise estimates, insufficient statistical power and increased false negative rates. ...
... However, it was not possible to stratify the analyses by sport discipline. It is important to note that in the absence of the possibility of increasing the athlete group, it is essential to have a well-representative control group (Guilherme et al., 2014). We were only able to achieve sufficient statistical power due to the use of a single group of long-distance athletes and a larger control group. ...
Introduction
The phenotypic consequences of the p.Arg577Ter variant in the α‐actinin‐3 ( ACTN3 ) gene are suggestive of a trade‐off between performance traits for speed and endurance sports. Although there is a consistent association of the c.1729C allele (aka R allele) with strength/power traits, there is still a debate on whether the null allele (c.1729T allele; aka X allele) influences endurance performance. The present study aimed to test the association of the ACTN3 p.Arg577Ter variant with long‐distance endurance athlete status, using previously published data with the Brazilian population.
Methods
Genotypic data from 203 long‐distance athletes and 1724 controls were analysed in a case–control approach.
Results
The frequency of the X allele was significantly higher in long‐distance athletes than in the control group (51.5% vs. 41.4%; p = 0.000095). The R/X and X/X genotypes were overrepresented in the athlete group. Individuals with the R/X genotype instead of the R/R genotype had a 1.6 increase in the odds of being a long‐distance athlete ( p = 0.012), whereas individuals with the X/X genotype instead of the R/R genotype had a 2.2 increase in the odds of being a long‐distance athlete ( p = 0.00017).
Conclusion
The X allele, mainly the X/X genotype, was associated with long‐distance athlete status in Brazilians.
... Sport success is a very complex and multifactorial phenomenon that depends on a wide variety of factors such as opportunities for talent development, financial support, quality of training, physical capacities and fitness, nutrition, history of injuries, anthropometric and genetic characteristics, among many others (Tucker & Collins, 2012;Guilherme et al., 2014). Whilst the search for a single formula that would lead one to excel in sport is almost certainly an effort in vain, the physical and physiological attributes that are necessary to perform at the elite level in a given sport have been extensively studied and, to some extent, determined in several modalities. ...
In strength and power sports, an optimal development of muscle strength, power, and speed, as well as optimal body composition, is key for performance and competitive success. Additionally, the ability to perform and sustain high-intensity exercise, either in a single bout or in multiple bouts separated by short resting intervals, is also determinant to success in a wide variety of strength and power sports. The optimal development of these capacities depends on multiple factors, with adequate training stimuli and nutritional support being two cornerstones to success. This article presents an overview of the physiology underpinning high-intensity, short-duration exercises, and discusses training methods for developing muscle strength and power, and for promoting muscle growth. Nutritional strategies, as well as supplements to aid training performance, recovery, and competition performance are discussed, with focus on high-intensity exercises, strength, and power sports.
... In studies such as twin studies and familial studies, researchers can predict some performance-related data such as muscle fiber type distribution, bone density, aerobic capacity, and anerobic capacity. [1] These results suggest that performance-enhancing polymorphisms can enhance athletic performance when inherited. ...
... Therefore, genetics are likely the primary limiting factor in the pursuit of athletic performance (Figure 1.) It is widely accepted that any individual who is dedicated to an organized training system can improve athletic performance (5). However, not all individuals may reach the upper echelon of athletic performance based on their genetic profile, regardless of dedication to years of a highly organized training system (5). ...
... It is widely accepted that any individual who is dedicated to an organized training system can improve athletic performance (5). However, not all individuals may reach the upper echelon of athletic performance based on their genetic profile, regardless of dedication to years of a highly organized training system (5). Numerous interdependent physiological and biochemical systems must function optimally to allow for peak performance, indicating that it is highly unlikely that a single gene is associated with superior athletic performance (6). ...
Topics in Exercise Science and Kinesiology Volume 4: Issue 1, Article 3, 2023. Achieving peak performance in sports is a multifactorial phenomenon that spans several scientific disciplines. The optimization of human performance requires a comprehensive and systematic assessment that identifies potential performance-inhibiting factors. The result of such analysis allows for more individualized and accurate evaluation, athlete monitoring, and training interventions. Thus, there is a need for a multidisciplinary model of peak performance to guide practitioners when conducting a comprehensive analysis. The purpose of this manuscript is to provide a brief but practical vade mecum for practitioners to consider in the development of a training system while pursuing peak athletic performance.
... collaboration on this scale may also exacerbate the heterogeneity of athlete samples in terms of factors such as competitive playing level, sport discipline, geographic ancestry, on-field playing position, sex, chronological age, maturity status, and phenotype measurement. Cohort homogeneity is vitally important in sports genomic research, as each of these factors can have a confounding influence on genotype-phenotype associations(Guilherme et al., 2014;Mattsson et al., 2016;Tanisawa et al., 2020).Bringing cohorts together from different countries also requires researchers to carefully consider what criteria should be used to categorise athletes into competitive groups (e.g., elite, sub-elite, non-elite). Sports differ in terms of popularity and development across nations, so the performance level of athletes will need to beassessed relative to the competition pool both inside and outside their own country (McAuley, Baker, & Kelly, 2022; McKay et al., 2022). ...
Current scientific evidence does not support the implementation of genetic tests to enhance the processes of talent identification and development systems. Regardless of this consensus, it appears likely that sport stakeholders will continue using genetic tests. This paper aimed to provide practitioners with some best practice guidelines if implementing genetic testing within their organisations. First, we assess the growth and perceived flaws of direct-to-consumer genetic testing companies targeted towards sport. The sports genomic literature is then summarised to demonstrate the lack of established genetic associations with sporting phenotypes and the prevalent limitations that exist in this field of research. Following this, examples are presented suggesting some stakeholders in sport have already used genetic tests to screen for variants associated with performance phenotypes, while the potential appeal of genetic information to sport stakeholders is also discussed. The value of increased genetic literacy (i.e., enhanced education/understanding of genetic information) is then considered, as well as the promotion of talent inclusion (i.e., using genetic tests to include or retain athletes rather than for de-selection and exclusion purposes). To conclude, we offer practitioners several recommendations and best practice guidelines with regards to the implementation of genetic testing in sport.
... Evidências indicam a relação de alguns polimorfismos de DNA tanto esportes individuais como esportes coletivos (Guilherme et al., 2014;Farias et al.,2017) Desta forma, a análise dessa relação tem sido empregada como uma perspectiva para entender como o genótipo se manifestação sobre o fenótipo influenciando no perfil atlético (Guilherme et al., 2014), nas características de certas modalidades ou provas de curta duração com alta exigência da força muscular, quanto em provas de longa duração, dependentes exclusivamente do metabolismo aeróbio (Jacques et al., 2017) e nos níveis de rendimento esportivo (D'isanto et al., 2019). No Brasil foram catalogados 23 genes capazes de influenciar o fenótipo do atleta Brasileiro de alto rendimento entre eles a proteína alfa-actinina-3 (ACTN3) (Rodrigues & Fillus, 2015) O gene ACTN3 está presente no cromossomo 11q13-q14 com duas versões a selvagem (577R) e a mutante (577x), com três probabilidades nas situações de hereditariedade, os genótipos RR, RX ou XX, sendo que o genótipo XX determina a não produção de ACTN3 (Massidda et al., 2014;Seto et al., 2013). ...
... Evidências indicam a relação de alguns polimorfismos de DNA tanto esportes individuais como esportes coletivos (Guilherme et al., 2014;Farias et al.,2017) Desta forma, a análise dessa relação tem sido empregada como uma perspectiva para entender como o genótipo se manifestação sobre o fenótipo influenciando no perfil atlético (Guilherme et al., 2014), nas características de certas modalidades ou provas de curta duração com alta exigência da força muscular, quanto em provas de longa duração, dependentes exclusivamente do metabolismo aeróbio (Jacques et al., 2017) e nos níveis de rendimento esportivo (D'isanto et al., 2019). No Brasil foram catalogados 23 genes capazes de influenciar o fenótipo do atleta Brasileiro de alto rendimento entre eles a proteína alfa-actinina-3 (ACTN3) (Rodrigues & Fillus, 2015) O gene ACTN3 está presente no cromossomo 11q13-q14 com duas versões a selvagem (577R) e a mutante (577x), com três probabilidades nas situações de hereditariedade, os genótipos RR, RX ou XX, sendo que o genótipo XX determina a não produção de ACTN3 (Massidda et al., 2014;Seto et al., 2013). ...
Endereço para correspondência: ozanildo@bol.com.br RESUMO Evidências apontam os fatores genéticos com uma significativa participação no talento, traços e desempenho atlético. Com o avanço da tecnologia do sequenciamento do DNA cientista ficaram mais próximos de certos polimorfismos genéticos que contribuem para identificar certas características relacionadas com a modalidades desportiva e o perfil de seus praticantes. O objetivo desta revisão foi identificar a correlação da genotipagem da ACTN3 no desempenho dos atletas Brasileiros de elite. Através de uma revisão de 115 artigos originais e revisados, com um total de 08 artigos selecionados sendo: 01 artigo da modalidade de natação, 04 artigos envolvendo atletas de futebol, 02 artigos investigando os atletas de corridas de longa duração e 01 artigo de luta de combate (MMA) numa amostra de 783 atletas. Os resultados registraram uma maior correlação dos genótipos RR, RX influenciando nas modalidades de força/potência e o genótipo XX associado as modalidades com o fenótipo de resistência, mas não ficou claro a participação do polimorfismo da ACTN3 nos diversos fatores associados aos níveis de desempenho destes atletas. Portanto, o polimorfismo da ACTN3 como marcador genético pode ser instrumento para o aperfeiçoamento da performance desportiva dos atletas brasileiros. Entretanto, precisamos de uma maior quantidade de estudos para consolidar esses resultados. PALAVRAS-CHAVE: Genotípo. ACTN3. Gene. Atletas Brasileiros. ABSTRACT Evidence points to genetic factors having a significant role in athletic talent, traits, and performance. With the advance of the DNA sequencing technology scientists became closer to certain genetic polymorphisms that contribute to identify certain characteristics related to sports modalities and the profile of its practitioners. The objective of this review was to identify the correlation of ACTN3 genotyping in the performance of elite Brazilian athletes. Through a review of 115 original and reviewed articles, with a total of 08 articles selected, being: 01 article of the swimming modality, 04 articles involving soccer athletes, 02 articles investigating long distance running athletes and 01 article of combat fighting (MMA) in a sample of 783 athletes. The results registered a higher correlation of the RR, RX genotypes influencing the strength/power modalities and the XX genotype associated to modalities with the endurance phenotype, but it was not clear the participation of the ACTN3 polymorphism in the several factors associated to the performance levels of these athletes. Therefore, the ACTN3 polymorphism as a genetic marker may be a tool to improve the sport performance of Brazilian athletes. However, we need a larger number of studies to consolidate these results.
... The construction of DNA and the placement of sequences differ from individual to individual. The aforementioned differences between individuals cause different levels of responses to internal and external stimuli (training loads, training adaptation, environmental adaptation, diet type, ratio or composition of muscle fibers, blood pressure level, etc.), (7). DNA molecules are genetic determinants of biological properties. ...
... This type of change is called a single nucleotide polymorphism (SNP) or point mutation. The differences or changes that occur in this context depend on the prevalence in the population and the effect on the phenotype (appearance), (7,8,9). ...
... At the end of such changes, new generations (mutants) with different genotypes and phenotypes are formed from cells that divide and multiply (3,4). While gene expression is influenced by multiple environmental factors, genetic predisposition is a critical factor in the development of athletic performance and is characterized by multiple gene polymorphisms (7,9,10). Although all the sequences in the DNA strands are encoded (encrypted), approximately 95% of the genome plays a fundamental physiological role. ...
Genetic features (genome) to be passed down from generation to generation are encoded in DNA sequences. The construction of DNA and the placement of sequences differ from individual to individual. The differences between individuals cause different levels of responses to internal and external stimuli (training loads, training adaptation, environmental adaptation, diet type, composition of muscle fibers, blood pressure level, etc.). To date, only 20 of the more than 200 genes predicted to be associated with athletic performance are thought to affect high-level athletic performance. It has been observed that genetic characteristics are significantly affected by factors arising from environmental interactions and lifestyle, and that physical performance differences between individuals are directly related to exercise or lifestyle. So many foreign factors come together on a sports event, even if one competitor is considered superior to another, the result is almost always doubtful. It is obvious that ideal genes probably drive an athlete to greatness, and at the same time, these good genes do not guarantee a result.
... The relationship between ACE genotype and sportive execution (speed, power, strength and endurance) has been emphatically assessed in numerous of the considers conducted so distant [24,25]. Up to present, some considered on the subject range has completely clarified the relationship between gene and strength endurance development. ...
... It is generally defined as the capacity or ability of muscle groups to perform repeated contractions against a load [26]. Speed and endurance and the ability of muscles or vitality frameworks to resist physical exertion, such as lactate threshold training [24] for a maximum of 2 min, determine the level of strength endurance that reveals military capability . Military disciplines make it nearly impossible for a warrior to be both very fast and able to resist long-term endeavors simultaneously [22][23][24][25][26][27]. ...
... Speed and endurance and the ability of muscles or vitality frameworks to resist physical exertion, such as lactate threshold training [24] for a maximum of 2 min, determine the level of strength endurance that reveals military capability . Military disciplines make it nearly impossible for a warrior to be both very fast and able to resist long-term endeavors simultaneously [22][23][24][25][26][27]. ...
Background
The aim of this study is to determine the effect of ACE gene polymorphism on the parameters studied (push-up & sit-up) in a long-term study, which has been carried out for many years and to find out whether the differences in ACE gene's metabolism due to the influence of parameters such as outside impacts and lifestyle (active or sedentary life) have a role in the development of strength endurance or not.
Main text
59 male army officers made up the research team. A follow-up study of strength endurance (push-up and sit-up) test was conducted in the gym. The exam took two minutes to complete, and each application was tested separately. In both 2004 and 2019, persons with genotype ID had the best mean sit-up and push-up outcomes, followed by participants with genotype DD, and finally participants with genotype II ( P 0.05). Compared to the original rates in 2004, all genotype groups showed a significant reduction in push-up and sit-up scores in the test.
Conclusion
The findings of this study may reveal if strength and lifestyle choices affect the metabolic implications of the genetic polymorphism in the body. Particular varieties actuated by genes, on either hand, don’t result in significant improvements without any changes in individuals’ practices or ways of living, as per the conclusions.
