Physical Performance Phenotypes Research Articles

Putative Role of MCT1 rs1049434 Polymorphism in High-Intensity Endurance Performance: Concept and Basis to Understand Possible Individualization Stimulus.

Monocarboxylate transporters (MCTs) have been proposed as important mediators of the exchange between lactate (La−) producer and La− recipient (consumer) cells. Previous studies have suggested that the MCT1 A1470T genotype could be related to different physical performance phenotypes. This study followed the guidelines for Strengthening the Reporting of Genetic Association Studies (STREGA) and aimed to evaluate the distribution of the MCT1 polymorphism rs1049434 in endurance-trained athletes compared to the untrained population. Moreover, this study explored the potential influence of the polymorphism alleles phenotypes on high-intensity exercise performance. In a cross-sectional study fashion, a total of 85 triathletes from northern Spain were genotyped for MCT1 rs1049434 and compared to a control group of 107 healthy male participants (1000 Genomes Research Study for Iberian Populations in Spain). All athletes performed a 30 s Wingate all-out test (WAnT) on a cycle ergometer. Peak and mean power (absolute and relative) were measured. After verification of the Hardy–Weinberg equilibrium, the findings indicated that the MCT1 TT genotype was overrepresented in triathletes in comparison to the genotypic frequency of the general Spanish population. No significant associations were found between any MCT1 genotype and peak or mean power performance in the WAnT. Further studies are required to understand the relationship among MCT1 A1470T polymorphism, endurance-trained athletes, and high-intensity performance.

Poster 109: Discriminating Physical Performance Phenotypes of Patients with Chronic Low Back Pain

PM&RVolume 9, Issue 9S1 p. S169-S169 Pain & Spine Medicine Poster Hall: Original Research Poster 109: Discriminating Physical Performance Phenotypes of Patients with Chronic Low Back Pain Patricia Z. Zheng MD, Patricia Z. Zheng MD Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this authorAmir Muaremi PhD, Amir Muaremi PhD Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this authorHeike Leutheuser Dipl-Phys, Heike Leutheuser Dipl-Phys Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this authorJustin Norden MPhil, Justin Norden MPhil Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this authorAman Sinha MPhil, Aman Sinha MPhil Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this authorBjoern M. Eskofier PhD, Bjoern M. Eskofier PhD Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this authorMatthew Smuck MD, Matthew Smuck MD Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this author Patricia Z. Zheng MD, Patricia Z. Zheng MD Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this authorAmir Muaremi PhD, Amir Muaremi PhD Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this authorHeike Leutheuser Dipl-Phys, Heike Leutheuser Dipl-Phys Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this authorJustin Norden MPhil, Justin Norden MPhil Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this authorAman Sinha MPhil, Aman Sinha MPhil Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this authorBjoern M. Eskofier PhD, Bjoern M. Eskofier PhD Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this authorMatthew Smuck MD, Matthew Smuck MD Stanford Univ, Santa Clara, California, United StatesSearch for more papers by this author First published: 19 September 2017 https://doi.org/10.1016/j.pmrj.2017.08.056Citations: 1Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article.Citing Literature Volume9, Issue9S12017 AAPM&R Annual Assembly AbstractsSeptember 2017Pages S169-S169 RelatedInformation

AMPD1 rs17602729 is associated with physical performance of sprint and power in elite Lithuanian athletes.

BackgroundThe C34T genetic polymorphism (rs17602729) in the AMPD1 gene, encoding the skeletal muscle-specific isoform of adenosine monophosphate deaminase (AMPD1), is a common polymorphism among Caucasians that can impair exercise capacity. The aim of the present study was twofold: (1) to determine the C34T AMPD1 allele/genotype frequency distributions in Lithuanian athletes (n = 204, stratified into three groups: endurance, sprint/power and mixed) and compare them with the allele/genotype frequency distributions in randomly selected healthy Lithuanian non-athletes (n = 260) and (2) to compare common anthropometric measurements and physical performance phenotypes between the three groups of athletes depending on their AMPD1 genotype.ResultsThe results of our study indicate that the frequency of the AMPD1 TT genotype was 2.4% in the control group, while it was absent in the athlete group. There were significantly more sprint/power-orientated athletes with the CC genotype (86.3%) compared with the endurance-orientated athletes (72.9%), mixed athletes (67.1%), and controls (74.2%). We determined that the AMPD1 C34T polymorphism is not associated with aerobic muscle performance phenotype (VO2max). For CC genotype the short-term explosive muscle power value (based on Vertical Jump test) of athletes from the sprint/power group was significantly higher than that of the endurance group athletes (P < 0.05). The AMPD1 CC genotype is associated with anaerobic performance (Vertical Jump).ConclusionsThe AMPD1 C allele may help athletes to attain elite status in sprint/power-oriented sports, and the T allele is a factor unfavourable for athletics in sprint/power-oriented sports categories. Hence, the AMPD1 C allele can be regarded as a marker associated with the physical performance of sprint and power. Replications studies are required to confirm this association.

The genetics of sports injuries and athletic performance.

in the last two decades, several evidences have been provided to support the relationship between single nucleotide polymorphisms and the susceptibility to develop injuries participating in sport and performance related to sports activity. We report up-to-date review of the genetics factors involved in tendon injuries and athletic performance. we searched PubMed using the terms "sports injuries", "athletic performance" and "genetics" over the period 1990 to the present day. We also included non-English journals. most of the currently established or putative tendinopathy susceptibility loci have been analyzed by candidate gene studies. The genes currently associated with tendon injuries include gene encoding for collagen, matrix metallopeptidase, tenascin and growth factors. Several genes have been related to the physical performance phenotypes affecting endurance capacity and muscle performance. The most studied include ACE and ACTN3 genes. genetics determines the response of an individual to the surrounding environment. Recently, some of the individual genetic variations contributing to the athletic performance and the onset of musculoskeletal injuries, particularly in tendon and ligament tissues, have been identified. However, the identification of the genetic background related to susceptibility to injuries and physical performance of the athletes is challenging yet and further studies must be performed to establish the specific role of each gene and the potential effect of the interaction of these.

Mitochondrial Macrohaplogroup Associated with Muscle Power in Healthy Adults

The present study was undertaken to examine the effect of mitochondrial haplogroups on aerobic and anaerobic performance phenotypes such as maximum oxygen consumption, muscle power, and muscle mass. We recruited 474 healthy Japanese individuals and measured their physical performance phenotypes such as peak oxygen uptake, muscle power, and muscle mass. The genotypes for 186 polymorphisms in the mitochondrial DNA were determined, and the haplotypes were classified into 2 macrohaplogroups (i. e., N and M) and 12 haplogroups (i. e., F, B, A, N9a, N9b, M7a, M7b, G1, G2, D4a, D4b, and D5). When we compared the 2 major Japanese macrohaplogroups, leg extension power (P=0.0395), leg extension power based on body weight (P=0.0343), and vertical jump performance (P=0.0485) were significantly higher in subjects with mitochondrial macrohaplogroup N than in those with macrohaplogroup M. However, peak oxygen uptake was similar between the 2 groups. When we analyzed the 12 haplogroups, all of the measured parameters were similar among them. In conclusion, mitochondrial macrohaplogroup N may be one of the determinant factors of anaerobic physical performance phenotype such as muscle power.

Gene, injury and performance

Lecture 28The limit of each individual to perform a given type of exercise depends on the nature of the task, and is influenced by a variety of factors, including psychology,...

Genetics and sports

The limit of each individual to perform a given type of exercise depends on the nature of the task, and is influenced by a variety of factors, including psychology, environment and genetic make up. Genetics provide useful insights, as sport performances can be ultimately defined as a polygenic trait. We searched PubMed using the terms 'sports' and 'genetics' over the period 1990 to present. The physical performance phenotypes for which a genetic basis can be suspected include endurance capacity, muscle performance, physiological attitude to train and ability of tendons and ligaments to withstand injury. Genetic testing in sport would permit to identify individuals with optimal physiology and morphology, and also those with a greater capacity to respond/adapt to training and a lesser chance of suffering from injuries. Ethical and practical caveats should be clearly emphasized. The translation of an advantageous genotype into a champion's phenotype is still influenced by environmental, psychological and sociological factors. The current scientific evidence on the relationship between genetics and sports look promising. There is a need for additional studies to determine whether genome-wide genotyping arrays would be really useful and cost-effective. 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.

Reply from Alun G. Williams and Jonathan P. Folland

The weight of evidence suggests, and indeed it is widely accepted, that physical performance phenotypes are highly polygenic (Rankinen et al. 2006; Spurway, 2006). Based on that suggestion and using clearly defined inclusion criteria, in our recent article (Williams & Folland, 2008) we showed that human genetic potential for endurance performance depends on polymorphisms of at least 23 loci and probably many more. We then developed the first genetic algorithm for endurance performance and used this to show that it is extremely unlikely that even a single individual in the world possesses what could be termed a ‘perfect’ polygenic profile for endurance. We concluded that world records should continue to advance, although probably at a steadily reducing rate, purely through an ever-increasing pool of participants that includes individuals with genetic profiles more advantageous for endurance performance. The current letter to the editor advances the notion that ‘mental’ factors make significant contributions to success in sport. For example, mental toughness, tactical astuteness, team coherence, anticipation and decision-making, and motivation to endure pain during training and competition were suggested as key psychological traits. We would agree unreservedly. The qualities that make a champion athlete are legion and, we believe, certainly include those psychological factors suggested. We are aware of the impact that psychological factors can play in sport (Gould et al. 2002) and can have upon endurance-related phenotypes specifically (Crews, 1992). Accordingly we would encourage efforts to explore genetic influences on the psychological traits that influence endurance. Although rather outside our particular fields of expertise, we believe the first steps in identifying genetic influences on psychological traits that influence endurance performance would be to collate evidence to demonstrate that certain psychological traits are unequivocally related to improved endurance performance. In other words, a body of evidence similar to that associating maximal rate of oxygen uptake, economy of movement, lactate/ventilatory threshold and oxygen uptake kinetics (Jones & Carter, 2000) with endurance performance. To the best of our knowledge this has not yet been achieved. Next, evidence from twin or family studies would be useful to confirm and quantify the extent of the genetic (versus environmental) influences on those psychological phenotypes. In other words, evidence similar to that for the maximal rate of oxygen uptake, where heritability estimates are typically around 50% both in sedentary individuals and in terms of their response to training (Klissouras, 1971; Bouchard et al. 1986, 1998, 1999; Fagard et al. 1991). If those steps are taken successfully, researchers could then use their understanding of the underlying neurophysiology to identify candidate genes and examine their association (in cross-sectional or longitudinal studies) with critical psychological phenotypes. The demonstration of such genotype–phenotype associations would justify inclusion of those genetic loci in an updated genetic algorithm for endurance performance. An alternative and more direct approach involves identifying candidate genes for exercise and competition behaviours and investigating their association with endurance performance, irrespective of whether psychological phenotypes are or can be measured. The fact is that if any particular genetic polymorphism is associated with endurance sufficiently, regardless of mechanism, then that polymorphism should be identifiable using a ‘case-control’ study design, comparing elite athletes with non-elite controls. Six of the 23 polymorphisms included in our algorithm fell into this category, i.e. the only evidence of association with an endurance phenotype was from a case-control study with no direct evidence of the mechanism (mental or physical). Therefore, it is possible that some of the identified polymorphisms have neurophysiological and behavioural mechanisms of action, although in most cases there are good reasons for thinking the mechanism is local to skeletal muscle or the cardiovascular system. A further development of research of this kind that, initially at least, completely disregards the likely underlying physiological mechanisms, would be to conduct a genome-wide case-control study that does not have a priori hypotheses regarding particular genes. While this approach is proving fruitful in the study of genotype associations with phenotypes that are overtly related to disease (Altshuler & Daly, 2007), no equivalent study has yet been conducted with phenotypes chosen specifically because they are associated with elite athletic performance. It is probably only a matter of time before this occurs. The information that results can be incorporated into updated versions of the novel genetic algorithm for human endurance that we published recently in this journal (Williams & Folland, 2008). We are grateful to Dr Marc Jones (Staffordshire University, UK) for discussion regarding these issues.

Keeping Pace with ACE

In the decade since the angiotensin-converting enzyme (ACE) gene was first proposed to be a 'human gene for physical performance', there have been numerous studies examining the effects of ACE genotype on physical performance phenotypes such as aerobic capacity, muscle function, trainability, and athletic status. While the results are variable and sometimes inconsistent, and corroborating phenotypic data limited, carriers of the ACE 'insertion' allele (the presence of an alu repeat element in intron 16 of the gene) have been reported to have higher maximum oxygen uptake (VO2max), greater response to training, and increased muscle efficiency when compared with individuals carrying the 'deletion' allele (absence of the alu repeat). Furthermore, the insertion allele has been reported to be over-represented in elite athletes from a variety of populations representing a number of endurance sports. The mechanism by which the ACE insertion genotype could potentiate physical performance is unknown. The presence of the ACE insertion allele has been associated with lower ACE activity (ACEplasma) in number of studies, suggesting that individuals with an innate tendency to have lower ACE levels respond better to training and are at an advantage in endurance sporting events. This could be due to lower levels of angiotensin II (the vasoconstrictor converted to active form by ACE), higher levels of bradykinin (a vasodilator degraded by ACE) or some combination of the two phenotypes. Observations that individuals carrying the ACE insertion allele (and presumably lower ACEplasma) have an enhanced response to training or are over-represented amongst elite athletes raises the intriguing question: would individuals with artificially lowered ACEplasma have similar training or performance potential? As there are a number of drugs (i.e. ACE inhibitors and angiotensin II type 1 receptor antagonists [angiotensin receptor blockers--ARBs]) that have the ability to either reduce ACEplasma activity or block the action of angiotensin II, the question is relevant to the study of ergogenic agents and to the efforts to rid sports of 'doping'. This article discusses the possibility that ACE inhibitors and ARBs, by virtue of their effects on ACE or angiotensin II function, respectively, have performance-enhancing capabilities; it also reviews the data on the effects of these medications on VO2max, muscle composition and endurance capacity in patient and non-patient populations. We conclude that, while the direct evidence supporting the hypothesis that ACE-related medications are potential doping agents is not compelling, there are insufficient data on young, athletic populations to exclude the possibility, and there is ample, albeit indirect, support from genetic studies to suggest that they should be. Unfortunately, given the history of drug experimentation in athletes and the rapid appropriation of therapeutic agents into the doping arsenal, this indirect evidence, coupled with the availability of ACE-inhibiting and ACE-receptor blocking medications may be sufficiently tempting to unscrupulous competitors looking for a shortcut to the finish line.

Polimorfismos genéticos determinantes da performance física em atletas de elite

Este artigo direciona-se à revisão de publicações sobre os "genes candidatos" e sua relação com os fenótipos de performance física humana em atletas de elite. Nosso objetivo é trazer ao conhecimento do leitor informações atualizadas sobre marcadores e variantes genéticas que podem levar certos indivíduos a sobressair-se em modalidades esportivas específicas. Além disso, serão descritos os mecanismos pelos quais um gene pode contribuir para a performance física, detalhando em cada momento as propriedades celulares, fisiológicas e moleculares do sistema em questão. Por esse motivo, limitamos nossa discussão a um número pequeno de variantes genéticas: polimorfismos R577X do gene da alfa-actinina 3 (ACTN3), C34T do gene da AMP deaminase (AMPD1), I/D da enzima conversora de angiotensina (ECA), -9/+9 do receptor beta2 de bradicinina (BDKRB2) e 985+185/1170 do gene da enzima creatina quinase M (CK-M). Esperamos com este artigo informar e sensibilizar o leitor para o fato de que a identificação de talentos e a otimização do potencial individual do atleta, com conseqüente sucesso no esporte, estão diretamente associados a variantes genéticas.