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Genetic Profiles and Prediction of the Success of Young Athletes' Transition from Middle- to Long-Distance Runs: An Exploratory Study
Abstract
The aim of the study was to assess whether an aerobic-favoring genetic profile can predict the success of a shift from middle- to long-distance running. Thirteen elite middle-distance runners were divided into successful and non-successful groups in their shift toward long distance runs. All the runners began their training program at the age of 14-15, and after 6-7 years changed focus and adjusted their training program to fit longer running distances. The participants' personal records in the longer events were set at the age of 25-27, about 3-5 years after the training re-adjustment took place. The endurance genetic score based on nine polymorphisms was computed as the Endurance Genetic Distance Score (EGDS9). The Power Genetic Distance Score (PGDS5) was computed based on five power-related genetic polymorphisms. The mean EGDS9 was significantly higher among the successful group than the non-successful group (37.1 and 23.3, respectively, p<0.005, effect size 0.75), while the mean PGDS5 was not statistically different between the two groups (p=0.13). Our findings suggest the possible use of genetic profiles as an added tool for determining appropriate competitive transition and specialization in young athletes involved in early phases of talent development.
... 7 In athletics, this topic has been widely investigated by researchers, [8][9][10] specially to develop models and tools that enable greater accuracy and success in identifying talent. [11][12][13][14][15] At school, however, no models are found to estimate the potential of children for athletics. ...
Introduction
Talent detection is a dynamic and multifactorial process that must start at school.
Objective
Create a mathematical model for evaluating the sporting potential of schoolchildren for athletics in speed, throwing, and endurance events and to test its psychometric properties.
Methods
2871 schoolchildren of both sexes, from 11 to 17 years old, from a military school participated. Between 2015 and 2019, students were submitted to a multidimensional battery of tests containing anthropometric, physical-motor, psychological, socio-environmental, maturational, and performance indicators. In addition, ten teachers evaluated the students regarding the intangibles aspects of their sporting potential and the expectation of future success during this period. Adopting analytical and heuristic procedures, the Gold Score Athletics was created – linear, hybrid (tests + coaches´ eye), and weighted index, according to each indicator's importance, depending on the event type.
Results
In the model validation sample (n = 1384), 13.9%, 16.6%, and 11.7% of boys and 10.9%, 10.1%, and 9.1% of girls were classified as high potential (Gold Score ≥ 60) for speed, throwing and endurance events, respectively. Internal consistency (r = 0.76 to 0.82) and diagnostic stability were high (r = 0.72 to 0.81). The Gold Score Athletics for sprinters, throwers, and long-distance runners, both for boys and girls, was higher in students selected for a national competition when compared to those not selected (p < 0.001; d: 0.95 a 1.44) – construct validity – and higher in medalists in an athletics competition, held two years after diagnosis, when compared to non-medalists (p < 0.05; d: 0.62 a 1.87) – predictive validity.
Conclusion
The Gold Score Athletics is a valid and reliable scientific model for evaluating the sport's potential of schoolchildren, being useful in the talents detection for Athletics. Level of Evidence II; Diagnostic study.
Keywords:
Track and Field; Physical Fitness; Statistics
... 7 No atletismo, este tema tem sido amplamente investigado pelos pesquisadores, [8][9][10] especialmente para desenvolver modelos e ferramentas que possibilitem maior precisão e sucesso na identificação de talentos. [11][12][13][14][15] Na escola, porém, não são encontrados modelos para estimar o potencial das crianças para o atletismo. ...
Introduction
Talent detection is a dynamic and multifactorial process that must start at school.
Objective
Create a mathematical model for evaluating the sporting potential of schoolchildren for athletics in speed, throwing, and endurance events and to test its psychometric properties.
Methods
2871 schoolchildren of both sexes, from 11 to 17 years old, from a military school participated. Between 2015 and 2019, students were submitted to a multidimensional battery of tests containing anthropometric, physical-motor, psychological, socio-environmental, maturational, and performance indicators. In addition, ten teachers evaluated the students regarding the intangibles aspects of their sporting potential and the expectation of future success during this period. Adopting analytical and heuristic procedures, the Gold Score Athletics was created – linear, hybrid (tests + coaches´ eye), and weighted index, according to each indicator's importance, depending on the event type.
Results
In the model validation sample (n = 1384), 13.9%, 16.6%, and 11.7% of boys and 10.9%, 10.1%, and 9.1% of girls were classified as high potential (Gold Score ≥ 60) for speed, throwing and endurance events, respectively. Internal consistency (r = 0.76 to 0.82) and diagnostic stability were high (r = 0.72 to 0.81). The Gold Score Athletics for sprinters, throwers, and long-distance runners, both for boys and girls, was higher in students selected for a national competition when compared to those not selected (p < 0.001; d: 0.95 a 1.44) – construct validity – and higher in medalists in an athletics competition, held two years after diagnosis, when compared to non-medalists (p < 0.05; d: 0.62 a 1.87) – predictive validity.
Conclusion
The Gold Score Athletics is a valid and reliable scientific model for evaluating the sport's potential of schoolchildren, being useful in the talents detection for Athletics. Level of Evidence II; Diagnostic study.
Keywords:
Track and Field; Physical Fitness; Statistics
... Some studies have attempted to use the total genotype score (TGS) for the accurate prediction of athletic status and performance [4][5][6][7]. Ben-Zaken et al. created two polygenetic scores for endurance (endurance genetic distance score: EGDS, two and five polymorphisms) and power (power genetic distance score: PGDS, two and five polymorphisms) in related athletes and compared them with those of endurance and power athletes [5]. The PGDS2 and PGDS5 scores of power-speed athletes are significantly higher than their EGDS2 and EGDS5 scores and the PGDS2 and PGDS5 scores of controls. ...
This study aimed to investigate the relationship between power-oriented genetic polymorphisms and weightlifting status, create a total genotype score (TGS), and validate the association between TGS models and power-oriented athletes. First, 192 weightlifters and 416 controls were studied, and 12 polymorphisms that have previously been associated with strength, power status, and phenotype were genotyped using the TaqMan SNP genotyping assay. We calculated the TGS for the 12 polymorphisms using a PWM (power-oriented whole model) and for 6 of them using a WRM (weightlifting-related model) based on a case–control study. Second, the TGS of the WRM was compared for 177 strength and power athletes and 416 controls. There was no significant difference in the PWM score between weightlifters and the controls. Weightlifters and elite weightlifters had higher WRM scores than the controls. However, the WRM score had no association with weightlifting performance. There was no significant difference in the WRM between power-oriented athletes and the controls. Our study was able to create a TGS model for weightlifters based on case–control results. However, the TGS model could not be applied to other power-oriented athletes.
... Based on a genetic algorithm proposed by Williams and Folland [36], TGS can range from 0 to 100 and represents the number of 'preferable' genotypes an individual possesses for the phenotype in question. Previous hypothetical and experimental TGS studies indicate that athletes have higher TGS scores, thus possessing more 'preferable' polygenic profiles than non-athletes for performance, injury and potential disease [36][37][38][39][40][41][42][43][44][45]. The potential applications of this approach to concussion are attractive but have not yet been explored. ...
Due to the high-velocity collision-based nature of elite rugby league and union, the risk of sustaining a concussion is high. Occurrence of and outcomes following a concussion are probably affected by the interaction of multiple genes in a polygenic manner. This study investigated whether suspected concussion-associated polygenic profiles of elite rugby athletes differed from non-athletes and between rugby union forwards and backs. We hypothesised that a total genotype score (TGS) using eight concussion-associated polymorphisms would be higher in elite rugby athletes than non-athletes, indicating selection for protection against incurring or suffering prolonged effects of, concussion in the relatively high-risk environment of competitive rugby. In addition, multifactor dimensionality reduction was used to identify genetic interactions. Contrary to our hypothesis, TGS did not differ between elite rugby athletes and non-athletes (p ≥ 0.065), nor between rugby union forwards and backs (p = 0.668). Accordingly, the TGS could not discriminate between elite rugby athletes and non-athletes (AUC ~0.5), suggesting that, for the eight polymorphisms investigated, elite rugby athletes do not have a more ‘preferable’ concussion-associated polygenic profile than non-athletes. However, the COMT (rs4680) and MAPT (rs10445337) GC allele combination was more common in rugby athletes (31.7%; p < 0.001) and rugby union athletes (31.8%; p < 0.001) than non-athletes (24.5%). Our results thus suggest a genetic interaction between COMT (rs4680) and MAPT (rs10445337) assists rugby athletes in achieving elite status. These findings need exploration vis-à-vis sport-related concussion injury data and could have implications for the management of inter-individual differences in concussion risk.
... 112 Use of genetic profiles both for injury risk stratification as well as optimization of physical performance have already been described. [113][114][115][116][117] As the availability, accuracy, and cost of these genetic assessments continue to improve, genetic screening may soon become a routine component of a complete clinical evaluation. Further population-based studies to identify elastic fiber genetic loci associated with increased risk of sustaining an acute injury or developing a degenerative condition will guide prophylactic measures. ...
Elastic fibers are an essential component of the extracellular matrix of connective tissues. The focus of both clinical management and scientific investigation of elastic fiber disorders has centered on the cardiovascular manifestations due to their significant impact on morbidity and mortality. As such, current understanding of the orthopaedic conditions experienced by these patients is limited. The musculoskeletal implications of more subtle elastic fiber abnormalities, whether due to allelic variants or age‐related tissue degeneration, are also not well understood. Recent advances have begun to uncover the effects of elastic fiber deficiency on tendon and ligament biomechanics; future research must further elucidate mechanisms governing the role of elastic fibers in these tissues. Identification of population‐based genetic variations in elastic fibers will also be essential. Minoxidil administration, modulation of protein expression with micro‐RNA molecules, and direct injection of recombinant elastic fiber precursors have demonstrated promise for therapeutic intervention, but further work is required prior to consideration for orthopaedic clinical application. This review provides an overview of the role of elastic fibers in musculoskeletal tissue, summarizes current knowledge of the orthopaedic manifestations of elastic fiber abnormalities, and identifies opportunities for future investigation and clinical application.
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... Overall, a higher TGS score increased the odds ratio (OR) of the individual becoming an athlete, suggesting that the TGS could be used as an additional tool to detect sporting talent. The usefulness of this approach to predict training response or athletic success is quite attractive (Ben-Zaken, Meckel, Lidor, Nemet, & Eliakim, 2013;Pickering, Kiely, Suraci, & Collins, 2018); however, its accuracy may not be enough to detect all potential individuals . ...
The purpose of the present study was to explore the ability of the total genotype score (TGS) for evaluation of the polygenic profile of elite athletes. Data from a Brazilian athlete cohort were used in this study, which included 368 athletes and 818 nonathletes. The TGS targeted to power athletes was computed using from two to 10 associated polymorphisms. In all models, the power group showed a higher TGS mean compared to the nonathlete group. In particular, scores using more associated polymorphisms showed stronger differences (P < 0.0001). Moreover, the more polymorphisms included in the score, the greater its discriminatory power. The frequency distribution of individuals according to the TGS computed using 10 associated polymorphisms showed that both the power group and the replication group were overrepresented in scores ≥60.0 (P < 0.0075). Individuals with a score ≥60.0 had an increased odds ratio (OR) of being an elite athlete compared to the nonathlete group (OR > 2.03; P < 0.006), although there were athletes with TGS values ranging from 15.0 to 90.0. By setting 60.0 as the cutoff point, the sensitivity and specificity of the TGS was approximately 30% and 82.5%, respectively. In conclusion, the TGS computed using 10 associated polymorphisms proved to be effective in discriminating the target athlete group, but with limited accuracy as evidenced by its sensitivity rate.
... It is well known that aerobic and anaerobic abilities are largely genetically determined (Bouchard, Dionne, Simoneau, & Boulay, 1992). A simple genetic score model in which both the aerobic and anaerobic genetic scores were computed based on two main genetic polymorphisms (ACTN3 C/T and ACE I/D) has previously been examined (Ben-Zaken, Meckel, Lidor, Nemet, & Eliakim, 2013;. These specific genetic polymorphisms were selected because they are two-faced polymorphisms, with one allele associated with endurance performance and the other with power performance. ...
... Each person has a unique genetic profile. Some studies already suggest using genetic profiles to enhance athletic performance [58,59]. Taking appropriate preventive measures might decrease the risk of an ACL rupture, as well as its costs [60,61]. ...
Background:
Studies have shown a familial predisposition for anterior cruciate ligament (ACL) rupture and have been followed by genetic-association studies on polymorphisms in candidate genes in recent years. To date, no systematic review with a best-evidence synthesis has evaluated the influence of genetics on this devastating knee injury.
Objective:
Our objective was to evaluate the association between genetic variants and ACL rupture.
Methods:
We performed an extensive search in Embase, MEDLINE, Web of Science, Scopus, PubMed Publisher, Cochrane Register of Clinical Trials, and Google scholar up to 24 August 2015. Studies were eligible if they met the following inclusion criteria: (1) design was a case-control study, retrospective or prospective follow-up study, or a randomized controlled trial (RCT); (2) the study examined the association between a genetic variant and ACL rupture in both an ACL and a control group. We determined the risk of bias for all included studies.
Results:
We included a total of 16 studies (eight at high risk of bias and eight with an unclear risk) that examined 33 different DNA variants. Conflicting evidence was found for the COL1A1 rs1800012 and COL3A1 rs1800255 variants, whereas limited evidence was found for no association of the COL5A1 rs12722 and rs13946 and COL12A1 rs970547 variants (all encoding collagen). Evidence was insufficient to draw conclusions as to whether any other genetic variant identified in this review had any association with ACL rupture.
Conclusions:
More research is needed to support a clear association between ACL rupture and genetic variants. Genome-wide studies are recommended for exploring more potential genetic variants. Moreover, large prospective studies are needed to draw robust conclusions.
A successful swimming performance is a multi-factorial accomplishment, resulting from a complex interaction of physical, biomechanical, physiological and psychological factors, all of which are strongly affected by the special medium of water as well as by genetic factors. The nature of competitive swimming is unique, as most of the competitive events last less than four minutes. Yet training regimens have an endurance nature (many hours and many kilometres of swimming every day), which makes it impossible to classify swimming by definitions of aerobic-type or anaerobic-type events, as in track and field sports. Therefore, genetic variants associated with swimming performance are not necessarily related to metabolic pathways, but rather to blood lactate transport (MCT1), muscle functioning (IGF1 axis), muscle damage (IL6) and others. The current paper reviews the main findings on the leading 12 genetic polymorphisms (located in the ACE, ACTN3, AMPD1, BDKRB2, IGF1, IL6, MCT1, MSTN, NOS3, PPARA, PPARGC1A, and VEGFR2 genes) related to swimming performance, while taking into consideration the unique environment of this sport.
Abstract:
Human genome is among individuals 99.9 % identical, there are, however, important differences in the remaining part. Several companies offer analysis of these small differences - genetic polymorphisms, for different purposes. For athletes, genetic testing is available to identify individuals with undiagnosed cardiac disorders or stronger susceptibility to bone and ligament injuries or concussion. There are also tests where polymorphisms relevant for physical performance are analyzed, based on which personalized training could presumably be advised. These tests, in particular, raise concern among scientists. Even though, there is in fact scientific evidence supporting associations of genetic polymorphisms with sports performance, predictive values of such analysis are minimal. In the present article recent advances in the field are summarized together with the relevant ethical concerns.
Exercise adaptations to strength, anaerobic and aerobic training have been extensively studied in adults, however, young people appear to respond differently to such exercise stimulus in comparison to adults. In addition, because overtraining in young athletes has received little attention, this important area is also discussed. Resistance training in children can be safe and effective. It has the potential to improve sport performance, enhance body composition and reduce the rate of sport incurred injury. Furthermore, with the appropriate stimulus, prepubertal and adolescent athletes can show significant increments in muscle strength (13 - 30%). Children can improve anaerobic power (3%-10% Mean Power and 4%-20% in Peak Power), although the mechanisms responsible for the improvements in children remain unclear. Children show a 'reduced' trainability of peak VO2 in comparison to adults. Nevertheless, their aerobic power is trainable, with improvements reported at approximately 5%. Moreover, improvements in other variables like exercise economy or lactate threshold may occur without significant changes in peak VO2 The limited evidence available indicates that overtraining is occurring in young athletes (30% prevalence), highlighting the importance of further research in to all the possible contributing factors - physiological, psychological and emotional - when investigating overtraining. Key pointsChildren's strength, anaerobic and aerobic power is trainable, although the improvements may be smaller than seen in adults.Children can demonstrate significant gains in muscle strength with resistance training (13 - 30%).Improvements in mean power (3 - 10%) and peak power (4 - 20%) are reported in children.Aerobic fitness can improve with training in children by approximately 5%.Limited available evidence indicates an occurrence of overtraining in young athletes of around 30%.
Angiotensin-converting enzyme in human skeletal muscle1 can be encoded by either of two variants of the ACE gene2, one of which carries an insertion of 287 base pairs. This longer allele gives rise to lower enzyme activity2, and is associated with enhanced endurance performance3 and an anabolic response to intense exercise training4. Here we examine training-related changes in the mechanical efficiency of human skeletal muscle (energy used per unit power output) and find that the presence of this ACE allele confers an enhanced mechanical efficiency in trained muscle.
Examined patterns in the dynamics of families of talented athletes throughout their development in sport. Four families, including 3 families of elite rowers and 1 family of an elite tennis player, were examined. The framework provided by K. A. Ericsson et al (1993) to explain expert performance served as the theoretical basis for the study. Ericsson et al suggested that the acquisition of expert performance involves operating within 3 types of constraints: motivational, effort, and resource. In-depth interviews were conducted with each athlete, parent, and sibling to explore how they have dealt with these 3 constraints. A total of 15 individual interviews were conducted. Results permitted the identification of 3 phases of participation from early childhood to late adolescence: the sampling years, the specializing years, and the investment years. The dynamics of the family in each of these phases of development is discussed. (PsycINFO Database Record (c) 2012 APA, all rights reserved)
Personal genetic testing which is not strictly related to medicine or health is becoming more and more popular covering areas from ancestry, genealogy, nutrition & lifestyle and more recently sports and exercise. The reasons are compelling - if it were possible to read in our genes our potential sporting attributes and how to achieve them it would be valuable information. But is it possible? This overview will look at the current situation and future prospects - the authors believe that there is utility in sports genetic testing exactly what can be interpreted from our genetic results needs to be precisely defined and limited to what has been demonstrated by repeated scientific studies. Current areas of interest include optimising exercise/training routines, VO2max improvement and predisposition to some common sports related injuries such as tendonitis. The interest and the scientific progress is reflected both in increasing rate of publication of gene-exercise studies as well as in patent applications concerning genetic associations with commercial potential.
abStract A Searching for talent and the assessing ability in young prospects from individual and team sports often include measurement, analysis, and evaluation of physical and motor skills. The use of these tests in early stages of talent development has been widely observed in both female and male prospects. The purpose of this pa-per is to review a series of studies conducted on talented and less-talented athletes/ players that were aimed at distinguishing between the two groups and at predicting the athletes'/players' future achievements/success. Thirteen studies examining the use of physical and motor skill tests in young prospects are reviewed. Based on this review, four main observations are highlighted and a number of benefits and limita-tions associated with the use of such tests are discussed. It is recommended that (1) coaches reduce the number of batteries of physical and motor skill tests used in early phases of talent development and (2) coaches and sport scientists specializ-ing in measurement and evaluation cooperate in order to improve the effectiveness of the application and interpretation of physical skill tests given to prospects at early stages of talent development. Keywords: Talent detection, early development, physical skill tests, individual sports, team sports, action situations. Searching for talent and assessing early development are valuable stages in almost any multi-step sport program (Brown, 2001; Falk, Lidor, Lander, & Lang, 2004; Williams & Reilly, 2000). These stages usually include three aspects of measurement and assessment: physical, psychological, and sociological (Brown, 2001; Fisher & Borms, 1990; Reilly, Wil-liams, Nevill, & Franks, 2000). If measured correctly, these elements may provide coaches and physical educators with relevant information on the young prospects' abilities.
The activity patterns of many sports (e.g. badminton, basketball, soccer and squash) are intermittent in nature, consisting of repeated bouts of brief (≤-second) maximal/near-maximal work interspersed with relatively short (≤60-second) moderate/low-intensity recovery periods. Although this is a general description of the complex activity patterns experienced in such events, it currently provides the best means of directly assessing the physiological response to this type of exercise. During a single short (5- to 6-second) sprint, adenosine triphosphate (ATP) is resynthesised predominantly from anaerobic sources (phosphocreatine [PCr] degradation and glycolysis), with a small (
The historical debate on the relative influences of genes (i.e. nature) and environment (i.e. nurture) on human behaviour has been characterised by extreme positions leading to reductionist and polemic conclusions. Our analysis of research on sport and exercise behaviours shows that currently there is little support for either biologically or environmentally deterministic perspectives on elite athletic performance. In sports medicine, recent molecular biological advances in genomic studies have been over-interpreted, leading to a questionable ‘single-gene-as-magic-bullet’ philosophy adopted by some practitioners. Similarly, although extensive involvement in training and practice is needed at elite levels, it has become apparent that the acquisition of expertise is not merely about amassing a requisite number of practice hours. Although an interactionist perspective has been mooted over the years, a powerful explanatory framework has been lacking. In this article, we propose how the complementary nature of degenerate neurobiological systems might provide the theoretical basis for explaining the interactive influence of genetic and environmental constraints on elite athletic performance. We argue that, due to inherent human degeneracy, there are many different trajectories to achieving elite athletic performance. While the greatest training responses may be theoretically associated with the most favourable genotypes being exposed to highly specialised training environments, this is a rare and complex outcome. The concept of degeneracy provides us with a basis for understanding why each of the major interacting constraints might act in a compensatory manner on the acquisition of elite athletic performance.
Top-level sport seems to play a natural Darwinian stage. The most outstanding athletes appear to emerge as a result of exogenous influences of nature and/or coincidence, namely, the contingency of practicing certain sport for which their talents best fit. This coincidence arises because certain individuals possess anatomical, metabolic, functional and behavioural characteristics that are precisely those required to excel in a given sport. Apart from the effects of training, there is strong evidence of genetic influence upon athletic performance. This article reviews the current state of knowledge regarding heritable genetic effects upon endurance and muscle strength, as reported by several twin and family studies. Due, probably, to the inaccuracy of the measurement procedures and sampling error, heritability estimates differ widely between studies. Even so, the genetic inheritence effects seem incontrovertible in most physical traits: ~40-70% for peak oxygen uptake and cardiac mass and structure, and ~30-90% for anaerobic power and capacity, ranging according to the metabolic category. Studies in development by several researchers at this present time seem to guarantee that future reviews will include twins and family studies concerning genes associated with the adaptive processes against hormetic agents, such as exercise, heat and oxidative stress.