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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
... 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.
... 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. ...
... Athletic performance and exercise-related injuries are multifactorial events resulting from extrinsic environmental factors and intrinsic factors such as genetic predisposition (Collins, 2009;Guilherme et al., 2014). The use of gene profiling techniques could be profitable to individually optimize training contents and to positively influence athletic performance (Pruna et al., 2016). ...
... For example, genes influence factors such as muscle fiber composition or the activity of aerobic and anaerobic enzymes. Moreover, genes and polymorphisms also predispose muscle strength or flexibility and the metabolic energy supply of an athlete (Guilherme et al., 2014). Therefore, a key role in athletic performance can be ascribed to these genetic factors, as their effectiveness can play a crucial role, especially in the elite sector (Posthumus and Collins, 2016). ...
... Several genetic polymorphisms related to athletic performance have been detected (Ahmetov et al., 2016). The genetic contribution to performance-related factors can be determined by quantitative traits (Guilherme et al., 2014). These include, for example, the muscle fiber type distribution or muscle strength, but also outcome parameters of performance, such as running time. ...
The aim of this systematic review was to assess the effects of genetic variations and polymorphisms on endurance performance, muscle strength and injury susceptibility in competitive sports. The electronic databases PubMed and Web of Science were searched for eligible studies. The study quality was assessed using the RoBANS tool. Studies were included if they met the following criteria: (1) human study in English or German; (2) published in the period 2015–2019; (3) investigation of an association between genetic variants and endurance performance and/or muscle strength and/or endurance/strength training status as well as ligament, tendon, or muscle injuries; (4) participants aged 18–60 years and national or international competition participation; (5) comparison with a control group. Nineteen studies and one replication study were identified. Results revealed that the IGF-1R 275124 A>C rs1464430 polymorphism was overrepresented in endurance trained athletes. Further, genotypes of PPARGC1A polymorphism correlated with performance in endurance exercise capacity tests in athletes. Moreover, the RR genotype of ACTN3 R577X polymorphism, the C allele of IGF-1R polymorphism and the gene variant FTO T>A rs9939609 and/or their AA genotype were linked to muscle strength. In addition, gene variants of MCT1 (T1470A rs1049434) and ACVR1B (rs2854464) were also positively associated with strength athletes. Among others, the gene variants of the MMP group (rs591058 and rs679620) as well as the polymorphism COL5A1 rs13946 were associated with susceptibility to injuries of competitive athletes. Based on the identified gene variants, individualized training programs for injury prevention and optimization of athletic performance could be created for competitive athletes using gene profiling techniques.
... Fizinis pajėgumas yra daugiaveiksnis paveldimas požymis, kuris yra nulemtas daugelio aplinkos (pvz.: treniruotės, mityba, motyvacija, šeimos ir trenerių įtaka) ir vidinių veiksnių (pvz.: genetinės, psichologinės ir fiziologinės savybės, motorinė funkcija) bei sąveikos tarp jų (Guilherme et al., 2014). Genetinės savybės daro didelę įtaką tokiems fizinio pajėgumo komponentams kaip jėga, greitis, ištvermė ir kūno morfologija (Ahmetov et al., 2012). ...
... Future studies must also follow the latest genomic studies and training recommendations. All experimental approaches including case studies, cross-sectional studies, and intervention studies must be implemented to demonstrate the relationship between human physical performance and ACE I/D gene polymorphism [119]. To ensure accurate and objective genetic evaluation, the genotype distributions of the ACE I/D gene polymorphism examined must be in Hardy Weinberg equilibrium. ...
Angiotensin-converting enzyme (ACE) gene has been reported to be one of the candidate genes for endurance performance. The ACE gene insertion/deletion (I/D) polymorphism (rs4646994) is responsible for the variation in the ACE plasma level. The insertion (I allele) of ACE I/D gene polymorphism decreases the level of ACE plasma, thus reducing skeletal muscle vasoconstriction. Skeletal muscle vasoconstriction increases oxygenated blood supply to working muscles for endurance performance. On the other hand, the D allele of ACE I/D gene polymorphism increases the level of ACE plasma, leading to skeletal muscle hypertrophy. Therefore, the D allele may be helpful for strength or power performance. However, evidence for the involvement of these alleles in improving endurance performance and muscle strength is inconsistent and warrants further studies. These inconsistencies may be attributed to the small sample size and the potential causes of the racial and ethnic differences used in the previous studies. Therefore, this brief review reported a summary of the current literature on the association of the ACE I/D gene polymorphism on human physical performance across populations. The findings of this review may serve as a reliable platform and guidance for future research to provide a better understanding of the potential role of this variant on human physical performance concerning ethnicity.
... This virtual potential, when developed thought training, transforms into capacities that enhance performance. The studies (Guilherme, 2014) showed that in a particular sport, the presence of specific polymorphisms may contribute to high levels of performance and several polymorphisms have been associated with athletic phenotypes. The authors concluded that the analysis is more complicated than explaining the performance only bases on genes, but genetics is only one out of many contributing factors to the athletic performance. ...
To enhance the Romanian climbers’ performance, an intervention on the tactical and psychological components of the training is needed. We believe that this intervention should be made from a young age. The objective of this paper is to highlight the current training models for sports climbing in the literature and provide a critical analysis on them, so that we can define some project-programmes for the training of young climbers. The systematic review of the literature has identified that the variables most correlated with climbing performance are: mental characteristics (personality traits, temperament, locus of control and tactics), technical characteristics (coordination and technical abilities) and physical characteristics (flexibility, fitness and efficiency). We have also observed how efficient some practical and methodological approaches are in climbing training.
... Since then, several studies have been conducted to elucidate the gene-gene and geneenvironment interactions that contribute to sportrelated phenotypes contributing to elite performance status (4)(5)(6)(7)(8). In fact, sports performance is a complex multifactorial phenomenon governed by several intrinsic factors such as genetic polymorphism, psychomotor skills, physical fitness that are greatly influenced by extrinsic factors such as diet, training and health status (9)(10)(11). ...
... Although the association of most genetic variants with sports performance has weak scientific background, their presence in an individual either alone or in combination predisposes towards an increased chance of success in power or endurance performance (127). Nevertheless, it should be highlighted here that each individual polymorphism has only limited contribution to an elite athlete status and if considered alone may result in inadequate predicting of potential elite athlete phenotype (11,127).Consequently genetic tests based on one or few genetic markers lack scientific backing for prescription of personalised exercise and sports training. Therefore considering a polygenic profile of various polymorphic variants encoding diversified products involved in wide variety of cellular processes and pathways becomes crucial for accurate talent identification (128). ...
... Therefore considering a polygenic profile of various polymorphic variants encoding diversified products involved in wide variety of cellular processes and pathways becomes crucial for accurate talent identification (128). Besides that, the identification of large numbers of SNPs affecting a given trait and then combining them into a TGS model for that trait, would probably improve the predictive precision of genetic evidence (11). ...
Genetic variants may contribute to confer elite athlete status. However, this does not mean that a person with favourable genetic traits would become a champion because multiple genetic interactions and epigenetic contributions coupled with confounding environmental factors shape the overall phenotype. This opens up a new area in sports genetics with respect to commercial genetic testing. The analysis of genetic polymorphisms linked to sport performance would provide insights into the potential of becoming an elite endurance or power performer. This mini-review aims to highlight genetic interactions that are associated with performance phenotypes and their potentials to be used as markers for talent identification and trainability.
