Of note, influfnce genetic markers have shown positive trainijg with athlete Genetic influence on training adaptations in at least 2 studies and 12 of them in 3 or more studies. Timmons JA. Association of ACE gene polymorphism with cardiovascular determinants of trained and untrained Iranian men. Download: PPT. Ahmetov II, Fedotovskaya ON.

Genetic influence on training adaptations -

COL5A1 gene has a role in the pathogenesis of Achilles tendinopathy and it has been observed that South African individuals with the A2 allele of this gene are less likely to develop Achilles tendinopathy. Thus, additional investigations need to be performed to identify these genes. Failure of ligamentous apparatus is challenging, especially when it occurs in athletes.

A family history of shoulder instability in first-degree relatives was found in 24 of patients who had been operated on for recurrent anterior shoulder instability.

Genetic study in ligamentous apparatus are still at their infancy. An involvement of the same genes involved in tendinopathy has been proposed.

Ligaments and tendons have a relatively similar structure, but different functions. They have dense, collagenous structures with few cells and both can heal after injury, but the repaired tissue is weaker than normal and liable to rerupture.

Sustained gene expression lasts for about 6 weeks in tendons, possibly long enough for clinical applications. Most gene therapy approaches focused on the delivery of BMP GDF-7 and BMP GDF-5, CDMP-1 because of their effects in promoting tenogenesis and ligamentogenesis.

Dai et al. They found that adenovirus can be used to deliver a gene of interest to cultured human rotator cuff tendon cells and healing tendon, with gelatin sponge implantation enhancing adenoviral transfection efficiency in vivo.

A variation in this approach has been studied in vitro to deliver TGF-β1 and IGF-1 76 to repair cells migrating from injured anterior cruciate ligament.

Human physiological trait variance has both an environmental and genetic basis, although the classic gene—environment dichotomy is clearly too simplistic to understand the full range of variation for most proximate determinants of athletic performance.

Psychological testing of aggression in female athletes showed that scores of indirect hostility were higher, but scores of irritability and negativism were lower in female athletes with the SS genotype as compared those with LS and LL genotypes.

Given the huge amount of available scientific information, the relative importance of factors over which an athlete has little or no control, such as genes, compared with those that can be modified, such as environment, training regimens and nutritional supplements needs scrutiny.

Unfortunately, there are no such studies published so far, other than those analysing walking ability in relatively healthy older women 80 or sports participation in adolescence. Therefore, two potential approaches can be advocated to investigate the relationship between genetics and sports.

Genetic association studies offer a potentially powerful approach for mapping causal genes with modest effects, but are limited because only a small number of genes can be studied at a time. In contrast, genome-wide association GWA studies will soon open new frontiers in our understanding of human biology, physiology and pathology.

An experiment with a single DNA chip can provide researchers information on thousands of genes simultaneously—a dramatic increase in throughput.

Qualitative or quantitative measurements with DNA microarrays use the selective nature of DNA—DNA or DNA—RNA hybridization under high-stringency conditions and fluorophore-based detection.

DNA arrays are commonly used for expression profiling, i. monitoring expression levels of thousands of genes simultaneously, or for comparative genomic hybridization. With the skill and all the necessary tools in hand, the potential to extend this powerful approach to investigate athletic performance is unquestionable, in that it will allow a wide exploration of the genetic basis in elite athletic performance.

However, this challenge was overcome with the sequencing of the human genome and the subsequent cataloguing of SNPs.

In most cases, however, it remains prohibitively expensive to genotype all the desired samples using a genome-wide genotyping array, so multi-stage designs are an attractive cost-saving alternative. ChIP-on-chip and ChIP-seq , genetic testing will go beyond assessing gene expression, to explore gene regulation activity.

It will also overcome traditional and labour-intensive protocols, such as restriction fragment length polymorphism—PCR, allele-specific oligonucleotide hybridization, non-PCR oligonucleotide cleavage technology and real-time PCR, providing the simultaneous measurement of the relative expression levels of thousands of individual genes.

As many more individuals of each species are born than can possibly survive, there is a frequently recurring struggle for existence. If competition lies at the very heart of evolution, the fact that there are top-class, professional athletes who embrace any type of aid to win on the athletic field should not be really surprising.

Doping is conventionally regarded as the unethical use of performance-enhancing substances or methods, which targets bodily functions including cerebral, metabolic, cardiovascular, respiratory, haematological and, in the very near future, genetic.

Myostatin, a member of the transforming growth factor-beta family of proteins that plays a fundamental role in regulating skeletal muscle growth during embryogenesis, is a paradigmatic example.

Several issues predict success for this new form of cheating. Transfection of genes virtually identical to those naturally represented in the human genome should outweigh the problem of positive anti-doping testing, making gene doping almost undetectable by traditional laboratory techniques.

transfecting erythropoiesis stimulating substances , abolishing the need for repeated administrations of exogenous pharmacological agents, athletes might consider it a more attractive option to traditional doping.

Genetic testing might be helpful also in the anti-doping context. First, establishing a basic genetic profile in the young athlete would prevent the uneventful possibility of gene transfection, since each deviation from an inherited pattern would be unquestionably interpreted as pathology or unfairness.

Furthermore, the identification of polymorphisms associated with variability in metabolism of hormones and proteins would enhance the diagnostic efficiency of traditional anti-doping tests, which are known to be unreliable under some circumstances. This is of interest not only for contrasting androgen doping in sports, but also for detecting and preventing androgen abuse in the society.

There might also be additional challenging factors such as microchimerism, meaning that difference from the expected individual genomic signature is possible. The human race has celebrated its athletes since the ancient Greece.

But from where does all this admiration for feats of incalculable skill and ability and subsequent disillusionment and anger when those feats prove in doubt derive? The historical debate on the relative influences of natural selection genes and environment conditions on human athletic performances has been characterized by extreme positions, leading to reductionist and polemic conclusions.

Recently, the development of technology for rapid DNA sequencing and genotyping has allowed the identification of some of the individual genetic variations that contribute to athletic performance.

Moreover, as the discovery of variants associated with human sport performances steadily increases, such probability will become statistically negligible. However, this is mostly an ethical than a practical issue. First, elite athletes do not generally exhibit marked differences across a number of polymorphisms from the general population, but they might simply carry more of the positive alleles than the general population, and they could be hypothetically identified using that knowledge.

Then, genetic studies have been accomplished until recently by studying one or a few genes at a time. With the advent of microarrays, expression analysis has taken giant leaps forward with the capability to screen in the range of several thousands of genes simultaneously up to 1 different probes per cm 2.

Statistical methods for joint linkage and linkage-disequilibrium mapping strategy are especially needed to resolve strong multi-locus association signals and dissect the genetic architecture of complex traits, such as sport performance. Although we all would agree that genetic testing is not aimed to replace the findings on the athletic field, under the most appropriate circumstances it might be less invasive, less expensive and more accurate than conventional in vivo or in vitro analyses.

Moreover, although it should be discretionary and regulated on athletes, 99 it represents a great opportunity to build a solid bridge towards a rational and personalized training framework, one of the future challenges of physiology and sports medicine.

There are two extreme positions when considering this issue. In fact, a deep knowledge of the inherited basis of athletic performances might induce to plan off-springs between individuals carrying favourable genotypes to generate who is expected to be the champion of the future.

Furthermore, if a young athlete is aware of lacking genetic potential for a certain sport, will he or she be less likely to participate, even not expecting to become a famous, top class athlete? Therefore, the effect of genetic testing on sport participation and the social development of children should be considered in great depth, even though the possibility could be raised that guiding children towards the most suited athletic discipline may increase participation rates as positive feedback is obtained.

The early identification of young athlete's predisposition for a certain type of sport might be a vital component of many sport programmes and would also be useful to guide children towards the most suited athletic discipline. This is especially true in competitive sports, where even slight differences in athletic skill can separate the winner from the rest of the competitors.

Once more, however, the most rationale approach probably lies in the middle. Several gene polymorphisms might strongly predict the predisposition to becoming a top-class athlete, but an advantageous genotype not always translates into the phenotype of a champion, since a variety of psychological and environmental factors still influences gene expression.

Sport performances are also the result of hours spent in focused, prolonged, intensive training, and a favourable genotype is not be enough to produce a champion. Contextually, since exercise training regulates the expression of genes encoding various enzymes in muscle and other tissues, genetic research in sports will help clarify several aspects of human biology and physiology, such as RNA and protein level regulation under specific circumstances.

This statement clearly highlights that genetic testing i might be useful for the development of genetic performance tests, ii may also be applied for pre-participation risk screening and may prevent sudden deaths during sport, iii might in future also be used to identify those who are most likely to benefit medically from exercise programmes and iv may become more important in anti-doping activities where it could be used for identification purposes genetic fingerprinting and more direct antidoping testing.

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Advanced Search. Search Menu. Article Navigation. Close mobile search navigation Article Navigation. Because of this complexity, it is unlikely that scientists can make champions by altering only one or two genes. Identical twins with similar levels of activity tend to have similar levels of fitness.

When identical twins undergo the same aerobic, anaerobic, or strength training program, they exhibit similar adaptations to the training 5. On the other hand, fraternal twins or siblings with similar levels of activity vary more in their fitness and have a greater variation in their adaptations to the different types of training.

To examine VO2max adaptations to different types of training, we carried out a standardized, week endurance training study with 29 male university students 7. This study was done in the fall semester, after which students went home for four weeks.

During the four weeks of inactivity, the VO2max of the four superior responders who agreed to return had decreased and were similar to the levels when they began the first training program.

After the interval-training program, these students again showed a superior training response. His VO2max also had decreased over the vacation, and he again had a very poor response to the additional interval-training program. Thus, there are phenotypes that respond differently to continuous or interval training.

The HERITAGE Family Study 4 was a very large investigation of how genes influence adaptations to exercise training and involved Whites from 99 families and Blacks from families at four centers.

All subjects were healthy and sedentary. After taking many tests associated with fitness and risk factors for cardiovascular disease and diabetes, subjects trained and were retested. The standardized training program consisted of exercise on a cycle ergometer three times a week for 20 weeks.

The first question asked was whether the families had similar levels of VO2max and other phenotypes before training began. Relative to VO2max, there were families in which all members had lower, average or higher values. Because there was a large variation in the response to training, the second question asked was whether families responded similarly to training.

This large variation occurred at all ages and at all levels of initial VO2max and was similar for Blacks and Whites and for women and men 8. In other words, there were superior, average and poor responders to training at all ages 17 to 65 years , in both races, in both sexes, and at all levels of initial VO2max.

The third question asked was whether the changes in VO2max were related to the initial values. There was essentially no relation between initial fitness and its response to training, as the correlation coefficient between VO2max before training and the change in VO2max after training was only 0.

It appears that one set of genes affects the initial level of VO2max and another set of genes affects the response of VO2max to training. We also examined whether there were any non-genetic variables measured before training that would differentiate between superior responders and poor responders.

We found no variable or combination of variables that would distinguish between these two groups Skinner et al. Because we have DNA samples from all subjects, we are now screening for genetic markers that may be associated with responses to training.

Based on the information available now, it is not possible to predict how a given individual will respond to training.

Breeders of racehorses have tried for many years to predict which horses will be successful. What they say is that "we take the best, mate them with the best, and hope for the best. Horse breeders cannot predict which horses will be in which category.

Of course, we do not breed humans for competition, so the possibility of accurately predicting which humans will be champion athletes is even lower.

Many athletes reach a point at which they must train more and harder to obtain fewer and fewer benefits in terms of performance.

When athletes reach this point, it is possible that they are approaching their genetic limits. As mentioned, there is no way to predict where this limit is. found no significant differences regarding the ACTN3 RX polymorphism in athletes compared to control subjects Peplonska et al.

There is already some evidence regarding an association of PPAR polymorphism with increased endurance exercise capacity. For example, Maciejewska et al. demonstrated that the G allele is associated with elite endurance status as compared with controls Maciejewska et al.

However, neither Jin et al. Thus, the PPARGC1A GlySer polymorphism was only associated with endurance performance in one of seven performance tests Jin et al.

In both studies, this could mainly be attributed to an ethnic and sports discipline-related heterogeneity and small sample sizes of the studied athlete groups, since the selection of a homogeneous group could be of great importance for the detection of genetic polymorphisms.

They found a significant association of the A allele and the AA genotype of NRF-2 rs in the group of athletes. Furthermore, they examined the frequencies of variants of the AGT and TFAM genes.

The distribution of the G allele and GG genotype of TFAM rs differed significantly between the athlete and control groups Peplonska et al. Thus, the deficiency of TFAM rs seems to increase the chance of being an elite athlete. For the AGT MT rs polymorphism, which was also investigated, no significant differences between the groups could be found Peplonska et al.

A similar phenomenon was demonstrated regarding the polymorphism of the FTO gene. Gene variants of the FTO gene have been associated with increased obesity in the past Peng et al.

In the study by Guilherme et al. Therefore, it can be assumed that the investigated polymorphism of the FTO gene might have a disadvantageous effect on the endurance performance of athletes.

Furthermore, the distribution of the receptor of IGF-1 IGF-1R or its polymorphism was investigated in strength and endurance athletes compared to a control group Ben-Zaken et al. The results of Ben-Zaken et al. For muscle strength, other genes and their polymorphisms were discussed as key genes.

Both the G allele of CNDP2 rs and the A allele of CNDP1 rs were two of eight investigated variants found in connection with strength athletes Guilherme and Lancha, In terms of the CNDP1 rs polymorphism, however, contradictory results were presented.

On the one hand, Guilherme and Lancha report that the A allele was significantly overrepresented in strength athletes compared to the mixed group of athletes. Moreover, Kikuchi et al.

These results were confirmed by low lactate levels of the elite wrestlers in two performance tests. Most recently, two studies by Voisin et al. The GSTP1 c.

Conversely, the replication study detected the mentioned allele or these genotypes only in endurance athletes Zarebska et al. In the combined analysis, however, the results of the original study were confirmed.

Furthermore, no comparison between the strength and endurance groups was made, so that a clear assignment of the GSTP1 c. Thus, it can only be associated with athlete status Zarebska et al. Well-known polymorphisms could be confirmed for the injury susceptibility of competitive athletes.

Lulińska-Kuklik et al. examined not only the gene variants of the genes of MMP3 Lulińska-Kuklik et al. Furthermore, they also analyzed polymorphisms of IL1B, IL6, and IL6R in connection with anterior cruciate ligament rupture Lulińska-Kuklik et al.

For the variants MMP3 rs and rs an association with the susceptibility to injury of athletes was validated in accordance with prior studies Raleigh et al. COL5A1 rs was only associated with anterior cruciate ligament rupture in the dominant mode of inheritance.

However, other studies do not clearly confirm this relation Mokone et al. Moreover, the results of the investigated variants of the TNC gene could not confirm the existing literature since none of the injured competitive athletes showed a higher frequency of the three investigated polymorphisms of the TNC gene compared to the controls Lulińska-Kuklik et al.

Similarly, for the variant TIMP2 rs no significant differences were found between the case and control group Lulińska-Kuklik et al.

The IL6 rs polymorphism can therefore act as a protective factor under these circumstances. Thus, a general directional statement for the injury preventive effects of the IL6 gene and its polymorphisms cannot be formulated due to divergent results depending on the mode of inheritance.

No significant results were obtained for the variants of the IL1B and IL6R genes Lulińska-Kuklik et al. Further, Salles et al. revealed an association between the inflammatory response of the immune system and the susceptibility to injury Salles et al.

Regarding non-inflammatory tendon disease, a genetic contribution of the variants of the genes BMP4, FGF3, FGF10, and FGFR1 was additionally investigated. The BMP4 rs polymorphism was identified as a risk factor for the development of tendinopathy.

For the polymorphisms of the genes around FGF3, FGF10, and FGFR1 no significant results could be found Salles et al. In addition to the analysis of individual polymorphisms, some authors also investigated haploid genotypes or combinations of analyzed polymorphisms in connection with the susceptibility of athletes to injury.

However, Salles et al. On top of that, the linkage of the five polymorphisms of the BMP4 gene investigated showed a significant association with tendinopathy in the TTGGA genotype Salles et al.

Further, the haploid genotype of COL5A1 rsrs was significantly overrepresented in the dominant model in controls as opposed to the athlete group. Thus, this haplotype could be interpreted as a protective factor Lulińska-Kuklik et al. In summary, the analysis of haplotypes or the interaction of genes and their variants has not received sufficient attention in the current literature.

However, the need for the analysis of haplotypes or the interaction of gene variants is based on the biological interaction processes for the development of athletic performance. Finally, we want to point out some limitations and discuss the quality of the included studies.

This review aims to provide an overall approach and therefore focuses on the parent categories endurance, muscle strength and injury susceptibility.

Future studies should identify and differentiate the effects of genetic predisposition on more specified performance-related factors such as aerobic capacity or explosive strength.

The search strategy of the current work was limited to the two databases PubMed and Web of Science and not extended to other databases. Therefore, possibly not all existing literature on genetic polymorphisms with an influence on performance and susceptibility to injury in competitive sports has been compiled.

Although, many of the included studies were able to map associations of their genetic polymorphisms in relation to athletes' performance and vulnerability to injury, the quality of the studies must be considered to evaluate their validity.

Using the RoBANS instrument Kim et al. A large proportion of the studies clearly defined exposure and chose appropriate measurement methods Ben-Zaken et al.

The reporting also included both significant and non-significant results as far as possible and the full presentation of all results. Only a few studies could not be clearly sorted into these categories Voisin et al. Likewise, the choice of study participants and the handling of confounders were not adequate in most of the studies, so the results of the affected studies must be treated with caution due to insufficient and inadequate definition of the control groups as well as providing a lack of information on control subjects, including age and gender distribution Ben-Zaken et al.

Furthermore, the transferability of the results was not always guaranteed. For example, Falahati and Arazi , Kikuchi et al. Finally, only a total of nine studies showed suitable design methods or statistical procedures to counter disturbing factors such as age and gender Ben-Zaken et al.

In addition, comparability of the studies is limited due to the different design in the structure, analysis, and evaluation. Some authors restricted their study population to a single type of exercise Kikuchi et al. Since the characteristics of endurance performance, muscle strength and injury susceptibility vary in children, adolescents, and seniors, these groups were excluded to increase the generalizability of the results by focusing on a normal adult age.

Further, we have chosen the inclusion of athletes broadly because in some sports the age for top sporting performance already is at 18 years, in others, it is at an older middle age.

The genetic prerequisites should be reflected in all these age groups. However, the wide age range may have influenced the results. Furthermore, the comparability of the study results is limited by the fact that several studies examine the same gene but different polymorphisms Salles et al.

In addition, an association of a gene with exercise performance or injury susceptibility should preferably be assessed in connection with the respective polymorphism. Consequently, in future studies comparability of results should be assessed on the level of gene variants and not only on the level of genes.

Furthermore, it was sometimes difficult to assign the examined individual sports disciplines to either the category of endurance performance or the category of muscle strength. For future investigations, it would be useful to create clear, uniform and superordinate definitions for subgroups according to metabolic and energetic requirements.

This also seems promising and purposeful regarding polymorphisms and their specific influence on metabolic pathways and regeneration processes. Since the occurrence of genetic polymorphisms depends on ethnicity, the origin of the study population should always be considered in future studies.

For example, Voisin et al. ACVR1B rs polymorphism was significantly overrepresented in Caucasian strength and sprint athletes and significantly underrepresented in Brazilian strength and sprint athletes. In addition, the performance level of the athletes also plays a major role—even in competitive sports.

Some of the included studies additionally subdivided the competitive athletes according to their competition level national vs. international and compared the distribution of the respective polymorphism between the subgroups or with a control group. For example, Guilherme and Lancha found no significant difference in the distribution of CNDP2 rs between endurance athletes and the control group, but this polymorphism was significantly overrepresented in international endurance athletes compared to controls after subdivision into subgroups.

These results indicate that polymorphisms are not only distributed differently within sport groups but can also differ in their frequency among performance classes.

Finally, we want to point out some current developments. A recent study showed that in addition to the previously described association with muscle strength, the allele distribution of ACTN3's RX polymorphism also varied significantly depending on the field position in professional football players Clos et al.

Thus, analyzing genetic characteristics of football players may be useful when evaluating performance capability and optimizing training protocols …. This indicates that the effects of different collagen types on the susceptibility to soft tissue injuries may differ strongly.

Moreover, a novel study indicates that the calculation of the total genetic score may be used as an instrument to enhance the performance in top athletes Amato et al. For muscle strength, the current systematic review process could confirm a well-known and already well-studied polymorphism: The RR genotype of ACTN3 RX polymorphism showed a positive association with strength athletes in several studies.

In addition, the newly sprouting gene variants of MCT1 TA rs and ACVR1B rs were also positively associated with strength performance. Among others, the gene variants of the MMP group rs and rs and the polymorphism COL5A1 rs were associated with susceptibility to injuries of competitive athletes.

In accordance with previous research, the gene variants of the MMP group rs and rs and the polymorphism COL5A1 rs could be linked to the injury susceptibility of athletes in the dominant mode of inheritance. The association of the TNC polymorphism with injury susceptibility could not be supported by recent studies.

Few studies have been available on the FOXP3 and FCLR3 polymorphism, BMP4 and the FGF group. Finally, depending on the mode of inheritance the polymorphism IL6 rs could also be associated with the susceptibility to injuries.

In conclusion, specific genetic variants and polymorphisms were identified that are associated with exercise performance as well as injury susceptibility. With the knowledge about the existence of specific polymorphisms, which can be risk factors for injuries, the healing process can be positively influenced, the endurance or strength training can be planned specifically, and the athlete can be optimally supported with the right amount of training.

Not only in individual disciplines, but also in team sports, the knowledge of an individual genetic profile is useful to derive an optimized one-to-one training. For athletes who have an increased likelihood of musculoskeletal injuries due to an unfavorable genetic predisposition, specific individualized injury prevention programs should be created, and weaknesses should be compensated preventively through targeted muscular strengthening, mobilization, and physical therapy.

However, recent research reveals that genetic testing is currently still unsuitable as a tool for talent identification due to problems in the precise differentiation between elite athletes and nonathletic controls Pickering and Kiely, This systematic review shows that there is an ongoing need for high-quality future studies for endurance, muscle strength and susceptibility to injuries to investigate possible polymorphisms that can play a decisive role in competitive sports.

KA and MA: conceptualization and methodology. MA, KA, KK, and KZ: validation and writing—review and editing. MA: formal analysis, investigation, data curation, writing—original draft preparation, and visualization.

KA and KK: supervision. KA: project administration. All authors have read and agreed to the published version of the manuscript. The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Ahmetov, I. The dependence of preferred competitive racing distance on muscle fibre type composition and ACTN3 genotype in speed skaters.

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The impact of genetics on physiology and sports performance adaptationns Genetic influence on training adaptations infljence the most debated influwnce aspects in sports sciences. Nearly genetic trianing have been Focus and productivity Nutrient timing for hormone regulation influence sports performance traits, and Nutrient timing for hormone regulation 20 polymorphisms may condition the status of the elite athlete. Research on this topic presents methodological limitations such as the lack of measurement of inflience Nutrient timing for hormone regulation performance phenotypes that make the study results difficult to Refreshing natural extracts. Additionally, adatations studies present an insufficient cohort of athletes, or their classification as elite is dubious, which may introduce expectancy effects. Finally, the assessment of a progressively higher number of polymorphisms in the studies and the introduction of new analysis tools, such as the total genotype score TGS and genome-wide association studies GWAShave produced a considerable advance in the power of the analyses and a change from the study of single variants to determine pathways and systems associated with performance. The purpose of the present study was to comprehensively review evidence on the impact of genetics on endurance- and power-based exercise performance to clearly determine the potential utility of genotyping for detecting sports talent, enhancing training, or preventing exercise-related injuries, and to present an overview of recent research that has attempted to correct the methodological issues found in previous investigations.

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Overcoming Genetic Limits \u0026 Differences