ACTN3 GENOTYPE IS ASSOCIATED WITH TESTOSTERONE LEVELS OF ATHLETES

α-Actinin-3 (ACTN3) has been proposed to regulate skeletal muscle differentiation and hypertrophy through its interaction with the signalling protein calcineurin. Since the inhibition of calcineurin potentiates the production of testosterone, we hypothesized that α-actinin-3 deficiency (predicted from the ACTN3 XX genotype) may influence serum levels of testosterone of athletes. Objective: To investigate the association of ACTN3 gene R577X polymorphism with resting testosterone levels in athletes. Methods: A total of 209 elite Russian athletes from different sports (119 males, 90 females) were genotyped for ACTN3 gene R577X polymorphism by real-time PCR. Resting testosterone was examined in serum of athletes using enzyme immunoassay. Results: The mean testosterone levels were significantly higher in both males and females with the ACTN3 R allele than in XX homozygotes (males: RR: 24.9 (5.7), RX: 21.8 (5.5), XX: 18.6 (4.9) ng · mL-1, P = 0.0071; females: RR: 1.43 (0.6), RX: 1.21 (0.71), XX: 0.79 (0.66) ng · mL-1, P = 0.0167). Conclusions: We found that the ACTN3 R allele was associated with high levels of testosterone in athletes, and this may explain, in part, the association between the ACTN3 RR genotype, skeletal muscle hypertrophy and power athlete status

Application of Omics Technologies in the System of Sports Training

Deciphering the human genome, and further development of omics technologies, have opened new opportunities in studying the molecular mechanisms underlying the sport success. According to modern concepts of functional genomics, it is believed that individual differences in the degree of development of physical and mental qualities, as well as in the susceptibility to different diseases of athletes are largely due to DNA polymorphisms. Genetic markers associated with the development and manifestation of physical qualities (speed, strength, endurance, agility, flexibility) can be used in the sports selection system, to clarify sports specialization and to optimize the training process. Other molecular markers (methyl groups, trans­cripts, telomerase activity, telomeres, circulating DNA, metabolites, proteins, etc.) in addition to predicting athletic performance, allow assessing the current functional state of the athlete, including the phenomenon of overtraining. The purpose of this review is to provide data on the use of genomic, epigenetic, trans­criptomic, proteomic and metabolic methods in sports talent identification, assessing the current functional status of athletes and in the pres­cription of personal training and nutrition programs. Future research, including multicentre genome-wide association studies and whole-genome sequencing in large cohorts of athletes with further validation and replication, will substantially contribute to the discovery of large numbers of the causal genetic variants (mutations and DNA polymorphisms) that would partly explain the heritability of athlete status and related phenotypes

Association of the Val158Met Polymorphism of the COMT Gene with Measures of Psychophysiological Status in Athletes

© 2020, Springer Science+Business Media, LLC, part of Springer Nature. Resistance to psychological stress, motivation, physical work capacity, and fatigue are genetically determined characteristics which are important for successful competitive activity in athletes. Polymorphism of the catechol-O-methyltransferase (COMT; regulates the function of the dopaminergic system) gene can generate individual differences in the development and manifestation of psychophysical qualities. The present study assessed the influences of the rs4680 polymorphism of the COMT gene on the psychophysiological status of 146 athletes of different specialties and qualifications. Athletes carrying the Met allele were found to have high psychological stability in the critical flicker fusion frequency test, which reflects the ability to form a task-appropriate functional system and maintain it for a longer period of time, as compared with carriers of the Val allele. Females (aged 10–19 years) showed higher rates of sensorimotor reactions in a simple visuomotor reaction test and a smaller number of accurate reactions in a moving object reaction test. Males (aged 12–19 years) carrying the Met allele were characterized by higher levels of personal anxiety on the Spielberger–Hanin anxiety scale. Thus, these studies demonstrate that the rs4680 polymorphism of the COMT gene influences the psychophysiological status of athletes

Is testosterone responsible for athletic success in female athletes?

© 2020 ediZioNi MiNerVa Medica BacKGrouNd: The aim of this study was to determine the interrelationship between the resting serum testosterone (T) levels of female athletes from different types of sporting events and their athletic success. MeThodS: The study involved 599 russian international-level female athletes (95 highly elite, 190 elite, and 314 sub-elite; age: 16-35 years) and 298 age-matched female controls. The athlete cohort was stratified into four groups according to event duration, distance, and type of activity: 1) endurance athletes; 2) athletes with mixed activity; 3) speed/strength athletes; 4) sprinters. athletic success was measured by determining the level of achievement of each athlete. reSulTS: The mean T levels of athletes and controls were 1.65±0.87 and 1.76±0.6 nmol/l (p=0.057 for difference between groups) with ranges of 0.08-5.82 and 0.38-2.83 nmol/l in athletes and controls, respectively. T levels were positively associated with athletic success in sprinters (p=0.0002 adjusted for age) only. Moreover, none of the sub-elite sprinters had T>1.9 nmol/l, while 50% of elite and highly elite sprinters had T>1.9 nmol/l (or=47.0; p<0.0001). CONCLUSIONS: Our data suggest that the measurement of the serum T levels significantly correlates with athletic success in sprinters but not other types of athletes and in the future may be useful in the prediction of sprinting ability

Whole genome sequencing of elite athletes

© 2020 Institute of Sport. All rights reserved. Whole genome sequencing (WGS) has great potential to explore all possible DNA variants associated with physical performance, psychological traits and health conditions of athletes. Here we present, for the first time, annotation of genomic variants of elite athletes, based on the WGS of 20 Tatar male wrestlers. The maximum number of high-quality variants per sample was over 3.8 M for single nucleotide polymorphisms (SNPs) and about 0.64 M for indels. The maximum number of nonsense mutations was 148 single nucleotide variants (SNVs) per individual. Athletes' genomes on average contained 18.9 nonsense SNPs in a homozygous state per sample, while non-Athletes' exomes (Tatar controls, n = 19) contained 18 nonsense SNPs. Finally, we applied genomic data for the association analysis and used reaction time (RT) as an example. Out of 1884 known genome-wide significant SNPs related to RT, we identified four SNPs (KIF27 rs10125715, APC rs518013, TMEM229A rs7783359, LRRN3 rs80054135) associated with RT in wrestlers. The cumulative number of favourable alleles (KIF27 A, APC A, TMEM229A T, LRRN3 T) was significantly correlated with RT both in wrestlers (P = 0.0003) and an independent cohort (n = 43) of physically active subjects (P = 0.029). Furthermore, we found that the frequencies of the APC A (53.3 vs 44.0%, P = 0.033) and LRRN3 T (7.5 vs 2.8%, P = 0.009) alleles were significantly higher in elite athletes (n = 107) involved in sports with RT as an essential component of performance (combat sports, table tennis and volleyball) compared to less successful (n = 176) athletes. The LRRN3 T allele was also over-represented in elite athletes (7.5%) in comparison with 189 controls (2.9%, P = 0.009). In conclusion, we present the first WGS study of athletes showing that WGS can be applied in sport and exercise science

The Future of Genomic Research in Athletic Performance and Adaptation to Training

Despite numerous attempts to discover genetic variants associated with elite athletic performance, an individual&apos;s trainability and injury predisposition, there has been limited progress to date. Past reliance on candidate gene studies focusing predominantly on genotyping a limited number of genetic variants in small, often heterogeneous cohorts has not generated results of practical significance. Hypothesis-free genome-wide approaches will in the future provide more comprehensive coverage and in-depth understanding of the biology underlying sports-related traits and related genetic mechanisms. Large, collaborative projects with sound experimental designs (e.g. clearly defined phenotypes, considerations and controls for sources of variability, and necessary replications) are required to produce meaningful results, especially when a hypothesis-free approach is used. It remains to be determined whether the novel approaches under current implementation will result in findings with real practical significance. This review will briefly summarize current and future directions in exercise genetics and genomics. © 2016 S. Karger AG, Basel

The future of genomic research in athletic performance and adaptation to training

Despite numerous attempts to discover genetic variants associated with elite athletic performance, an individual's trainability and injury predisposition, there has been limited progress to date. Past reliance on candidate gene studies focusing predominantly on genotyping a limited number of genetic variants in small, often heterogeneous cohorts has not generated results of practical significance. Hypothesis-free genome-wide approaches will in the future provide more comprehensive coverage and in-depth understanding of the biology underlying sports-related traits and related genetic mechanisms. Large, collaborative projects with sound experimental designs (e.g. clearly defined phenotypes, considerations and controls for sources of variability, and necessary replications) are required to produce meaningful results, especially when a hypothesis-free approach is used. It remains to be determined whether the novel approaches under current implementation will result in findings with real practical significance. This review will briefly summarize current and future directions in exercise genetics and genomics.Sin financiaciónNo data JCR 20160.609 SJR (2016) Q2, 98/240 Orthopedics and Sports Medicine, 59/169 Physical Therapy, Sports Therapy and Rehabilitation; Q3,  69/128 Sports ScienceNo data IDR 2016UE