Power Athlete Status Research Articles

Association analysis of indel variants and gene expression identifies MDM4 as a novel locus for skeletal muscle hypertrophy and power athlete status.

Insertions and deletions (indels) are the second most common type of variation in the human genome. However, limited data on their associations with exercise-related phenotypes have been documented. The aim of the present study was to examine the association between 18,370 indel variants and power athlete status, followed by additional studies in 357,246 individuals. In the discovery phase, the D allele of the MDM4 gene rs35493922 I/D polymorphism was over-represented in power athletes compared with control subjects (P=7.8×10-9) and endurance athletes (P=0.0012). These findings were replicated in independent cohorts, showing a higher D allele frequency in power athletes compared with control subjects (P=0.016) and endurance athletes (P=0.031). Furthermore, the D allele was positively associated (P=0.0013) with greater fat-free mass in the UK Biobank. MDM4 encodes a protein that inhibits the activity of p53, which induces muscle fibre atrophy. Accordingly, we found that MDM4 expression was significantly higher in the vastus lateralis of power athletes compared with endurance athletes (P=0.0009) and was positively correlated with the percentage of fast-twitch muscle fibres (P=0.0062) and the relative area occupied by fast-twitch muscle fibres (P=0.0086). The association between MDM4 gene expression and an increased proportion of fast-twitch muscle fibres was confirmed in two additional cohorts. Finally, we found that the MDM4 DD genotype was associated with increased MDM4 gene expression in vastus lateralis and greater cross-sectional area of fast-twitch muscle fibres. In conclusion, MDM4 is suggested to be a potential regulator of muscle fibre specification and size, with its indel variant being associated with power athlete status. HIGHLIGHTS: What is the central question of this study? Which indel variants are functional and associated with sport- and exercise-related traits? What is the main finding and its importance? Out of 18,370 tested indels, the MDM4 gene rs35493922 I/D polymorphism was found to be the functional variant (affecting gene expression) and the most significant, with the deletion allele showing associations with power athlete status, fat-free mass and cross-sectional area of fast-twitch muscle fibres. Furthermore, the expression of MDM4 was positively correlated with the percentage of fast-twitch muscle fibres and the relative area occupied by fast-twitch muscle fibres.

Identification of Genomic Predictors of Muscle Fiber Size.

The greater muscle fiber cross-sectional area (CSA) is associated with greater skeletal muscle mass and strength, whereas muscle fiber atrophy is considered a major feature of sarcopenia. Muscle fiber size is a polygenic trait influenced by both environmental and genetic factors. However, the genetic variants underlying inter-individual differences in muscle fiber size remain largely unknown. The aim of our study was to determine whether 1535 genetic variants previously identified in a genome-wide association study of appendicular lean mass are associated with the CSA of fast-twitch muscle fibers (which better predict muscle strength) in the m. vastus lateralis of 148 physically active individuals (19 power-trained and 28 endurance-trained females, age 28.0 ± 1.1; 28 power-trained and 73 endurance-trained males, age 31.1 ± 0.8). Fifty-seven single-nucleotide polymorphisms (SNPs) were identified as having an association with muscle fiber size (p < 0.05). Of these 57 SNPs, 31 variants were also associated with handgrip strength in the UK Biobank cohort (n = 359,729). Furthermore, using East Asian and East European athletic (n = 731) and non-athletic (n = 515) cohorts, we identified 16 SNPs associated with athlete statuses (sprinter, wrestler, strength, and speed-strength athlete) and weightlifting performance. All SNPs had the same direction of association, i.e., the lean mass-increasing allele was positively associated with the CSA of muscle fibers, handgrip strength, weightlifting performance, and power athlete status. In conclusion, we identified 57 genetic variants associated with both appendicular lean mass and fast-twitch muscle fiber size of m. vastus lateralis that may, in part, contribute to a greater predisposition to power sports.

The Role of AGT, AMPD1, HIF1α, IL-6 Gene Polymorphisms in the Athletes' Power Status: A Meta-Analysis.

This meta-analysis was designed to investigate the relationship between genetic polymorphisms (AGT rs699, AMPD1 rs17602729, HIF1α rs11549465, IL-6 rs1800795) and power athletes' status. Only case-control studies were included in the meta-analysis. A systematic search of the PubMed and Web of Science databases was performed to identify relevant studies and 23 studies met the inclusion criteria for the meta-analysis. The data from the included studies were pooled and analyzed using a random effects or fix effects model. The effect size was calculated as the odds ratio or a risk ratio with 95% confidence intervals. The results showed that certain genetic polymorphisms, AGT rs699 Thr allele, HIF1A rs11549465 Ser allele and AMPD1 rs17602729 C allele, were significantly more prevalent in power athletes (p < 0.05). When examining the genotype frequency distribution of AGT rs699 and AMPD1 rs17602729, significant differences were found in both the dominant and recessive models (p < 0.05). The results indicate that these gene polymorphisms play a role in power athlete status, however, new and more comprehensive studies are needed to confirm these results.

Prediction and Identification of Power Performance Using Polygenic Models of Three Single-Nucleotide Polymorphisms in Chinese Elite Athletes.

Objective: The manuscript aims to explore the relationship between power performance and SNPs of Chinese elite athletes and to create polygenic models. Methods: One hundred three Chinese elite athletes were divided into the power group (n = 60) and endurance group (n = 43) by their sports event. Best standing long jump (SLJ) and standing vertical jump (SVJ) were collected. Twenty SNPs were genotyped by SNaPshot. Genotype distribution and allele frequency were compared between groups. Additional genotype data of 125 Chinese elite athletes were used to verify the screened SNPs. Predictive and identifying models were established by multivariate logistic regression analysis. Results: ACTN3 (rs1815739), ADRB3 (rs4994), CNTFR (rs2070802), and PPARGC1A (rs8192678) were significantly different in genotype distribution or allele frequency between groups (p < 0.05). The predictive model consisted of ACTN3 (rs1815739), ADRB3 (rs4994), and PPARGC1A (rs8192678), the area under curve (AUC) of which was 0.736. The identifying model consisted of body mass index (BMI), standing vertical jump (SVJ), ACTN3, ADRB3, and PPARGC1A, the area under curve (AUC) of which was 0.854. Based on the two models, nomograms were created to visualize the results. Conclusion: Two models can be used for talent identification in Chinese athletes, among which the predictive model can be used in adolescent athletes to predict development potential of power performance and the identifying one can be used in elite athletes to evaluate power athletic status. These can be applied quickly and visually by using nomograms. When the score is more than the 130 or 148 cutoff, it suggests that the athlete has a good development potential or a high level for power performance.

CKM Gene rs8111989 Polymorphism and Power Athlete Status.

Multiple genetic variants are known to influence athletic performance. These include polymorphisms of the muscle-specific creatine kinase (CKM) gene, which have been associated with endurance and/or power phenotypes. However, independent replication is required to support those findings. The aim of the present study was to determine whether the CKM (rs8111989, c.*800A>G) polymorphism is associated with power athlete status in professional Russian and Lithuanian competitors. Genomic DNA was collected from 693 national and international standard athletes from Russia (n = 458) and Lithuania (n = 235), and 500 healthy non-athlete subjects from Russia (n = 291) and Lithuania (n = 209). Genotyping for the CKM rs8111989 (A/G) polymorphism was performed using PCR or micro-array analysis. Genotype and allele frequencies were compared between all athletes and non-athletes, and between non-athletes and athletes, segregated according to population and sporting discipline (from anaerobic-type events). No statistically significant differences in genotype or allele frequencies were observed between non-athletes and power athletes (strength-, sprint- and speed/strength-oriented) athletes. The present study reports the non-association of the CKM rs8111989 with elite status in athletes from sports in which anaerobic energy pathways determine success.

Androgen receptor gene microsatellite polymorphism is associated with muscle mass and strength in bodybuilders and power athlete status

Background The androgen receptor (AR) gene contains a polymorphic trinucleotide (CAG) microsatellite repeat sequence (short or long alleles) that has been associated with fat-free mass in untrained men, which needs to be replicated in athletic cohorts. Aim The purpose of this study was to explore the AR (CAG)n polymorphism in trained individuals. Subjects and methods A total of 61 professional bodybuilders (40 males, 21 females), 73 elite male sprinters and weightlifters and 186 male controls were enrolled in this study. The influence of the AR (CAG)n polymorphism on muscle mass and strength was assessed in bodybuilders, while the frequencies of AR (CAG)n alleles were compared between power athletes and non-athletes. Results The polymorphism was associated with anthropometric and strength measurements in bodybuilders of both genders. Those with ≥21 CAG repeats (i.e. carriers of long alleles) exhibited greater (p < 0.05) body mass index, absolute muscle mass, arm/thigh circumference and upper/lower limb strength compared to those with <21 CAG repeats. Furthermore, carriers of ≥21 CAG repeats were more frequent among power athletes compared to controls (p = 0.0076). Conclusions Long alleles of the AR (CAG)n polymorphism were associated with greater muscle mass and strength in bodybuilders, and power athlete status.

The BDNF-Increasing Allele is Associated With Increased Proportion of Fast-Twitch Muscle Fibers, Handgrip Strength, and Power Athlete Status.

Guilherme, JPLF, Semenova, EA, Borisov, OV, Kostryukova, ES, Vepkhvadze, TF, Lysenko, EA, Andryushchenko, ON, Andryushchenko, LB, Lednev, EM, Larin, AK, Bondareva, EA, Generozov, EV, and Ahmetov, II. The BDNF-increasing allele is associated with increased proportion of fast-twitch muscle fibers, handgrip strength, and power athlete status. J Strength Cond Res 36(7): 1884-1889, 2022-The brain-derived neurotrophic factor (BDNF) is involved in neurogenesis and formation of regenerated myofibers following injury or damage. A recent study suggested that the BDNF overexpression increases the proportion of fast-twitch muscle fibers, while the BDNF deletion promotes a fast-to-slow transition. The purpose of this study was to evaluate the association between the BDNF gene rs10501089 polymorphism (associated with blood BDNF levels), muscle fiber composition, and power athlete status. Muscle fiber composition was determined in 164 physically active individuals (113 men, 51 women). BDNF genotype and allele frequencies were compared between 508 Russian power athletes, 178 endurance athletes, and 190 controls. We found that carriers of the minor A-allele (the BDNF-increasing allele) had significantly higher percentage of fast-twitch muscle fibers than individuals homozygous for the G-allele (males: 64.3 [7.8] vs. 50.3 [15.8]%, p = 0.0015; all subjects: 64.1 ± 7.9 vs. 49.6 ± 14.7%, p = 0.0002). Furthermore, the A-allele was associated (p = 0.036) with greater handgrip strength in a sub-group of physically active subjects (n = 83) and over-represented in power athletes compared with controls (7.7 vs. 2.4%, p = 0.0001). The presence of the A-allele (i.e., AA+AG genotypes) rather than GG genotype increased the odds ratio of being a power athlete compared with controls (odds ratio [OR]: 3.43, p = 0.00071) or endurance athletes (OR: 2.36, p = 0.0081). In conclusion, the rs10501089 A-allele is associated with increased proportion of fast-twitch muscle fibers and greater handgrip strength, and these may explain, in part, the association between the AA/AG genotypes and power athlete status.

Are KIF6 and APOE polymorphisms associated with power and endurance athletes?

Genetic polymorphisms within physiologically relevant KIF6 and APOE genes were examined in the context of athletic performance. KIF6 and ApoE are involved in cardiovascular health, modulation of lipid level and neurotransmission amongst others. The aim of this study was to examine whether three polymorphisms, KIF6 rs20455T > C, APOE rs429358T > C and APOE rs7412 C > T, were associated with athletic status of an athlete defined as performance type (endurance or power). Genotyping was performed using real-time PCR on buccal genomic DNA from 204 Polish athletes including 104 endurance and 100 power athletes, and 161 sedentary individuals. APOE rs429358 genotype frequencies differed significantly between power athletes and sedentary individuals (p = 0.046). KIF6 rs20455 and APOE rs7412 were found to be epistatically associated with the power athletic status (p = 0.032). KIF6 rs20455, APOE rs429358 and APOE rs7412 were associated with athletic status of Polish athletes. In the future, these polymorphisms could contribute to predictive models aimed at assessment of an individual’s athletic status.

Ciliary Neurotrophic Factor Receptor rs41274853 Polymorphism Is Associated With Weightlifting Performance in Japanese Weightlifters.

Homma, H, Kobatake, N, Sekimoto, Y, Saito, M, Mochizuki, Y, Okamoto, T, Nakazato, K, Nishiyama, T, and Kikuchi, N. Ciliary neurotrophic factor receptor rs41274853 polymorphism is associated with weightlifting performance in Japanese weightlifters. J Strength Cond Res 34(11): 3037-3041, 2020-At least 69 genetic markers are associated with power athlete status. In the present study, we investigated the genotype frequency of the ciliary neurotrophic factor receptor (CNTFR) rs41274853 polymorphism and the association between specific CNTFR genotype and weightlifting performance in Japanese weightlifters. One hundred sixty-five Japanese weightlifters (103 men and 62 women) and 338 controls (122 men and 216 women) participated in the present case-control study. Saliva samples were collected using the Oragene DNA self-collection kit and genotyping for the CNTFR (rs41274853) polymorphism was performed using the TaqMan assay. A questionnaire, noting each subject's best record in an official weightlifting competition, was used to obtain the weightlifting performance. The frequencies of the CNTFR genotypes CC, CT, and TT were 56, 32, 12% in the weightlifters, and 53, 40, and 7% in the controls, respectively. There was no significant difference in CNTFR genotype frequencies between the weightlifters and controls. However, the frequency of the CT + TT genotype was significantly higher in international-level weightlifters than in the national-level weightlifters. The relative value per body weight of snatch, clean, and jerk, and total record were significantly higher in the athletes with CT + TT genotype than in the athletes with CC genotype (p < 0.05). Our results suggest that the CNTFR rs41274853 CT + TT genotype is associated with weightlifting performance in Japanese weightlifters. The CNTFR rs41274853 polymorphism may enable coaches to develop tailor-made training programs for individual athletes. In addition, strength and conditioning coaches could benefit from genetic information when assessing potential athletic talents and creating strength training programs for their athletes.

Nomograms For Predicting And Identifying Polygenetics Models Of Power Performance In Chinese Elite Athletes

Based on the single nucleotide polymorphism(SNP) of elite power performance athletes, combined with other related phenotypic indicators, models for predicting and identifying the power performance of Chinese elite athletes was established, and the models were visualized by the method of nomogram. PURPOSE: To explore the relationship between power performance and SNP of Chinese elite athletes and to creat polygenic models for predicting and identifying elite power performance. METHODS: 103 elite athletes (age=24.3±3.2years; height=174.9±8.4cm; body mass=66.3±14.0kg; body mass index (BMI)=21.5±3.4) which were all Chinese were divided into power group(n=60) and endurance group(n=43) by their sport event. Best standing long jump (SLJ) and standing vertical jump (SVJ) were collected. Saliva samples were collected to test and 20 SNPs were genotyped by SNaPshot. test was used to compare the genotype distribution and allele frequency between groups. Predicting and identifying models were established by multivariate logistic regression analysis. Nomograms were created to visualize. RESULTS: ACTN3(rs1815739),ADRB3(rs4994) and PPARGC1A(rs8192678) were significant both in genotype distribution and allele frequency between groups(P<0.05). The predicting model was consisted of ACTN3(rs1815739) (OR=2.448, 95% CI: 1.277-4.693), ADRB3(rs4994) (OR=3.546, 95% CI: 1.360-9.245) and PPARGC1A(rs8192678) (OR=2.159, 95% CI: 1.109-4.207), the AUC of which was 0.736. The identifying model was consisted of BMI(OR=1.217, 95% CI: 1.005-1.473), SVJ(OR=1.092, 95% CI: 1.040-1.146), ACTN3(OR=2.127, 95% CI: 1.006-4.497), ADRB3(OR=5.029, 95% CI: 1.451-17.427) and PPARGC1A(OR=2.370, 95% CI: 1.070-5.250), the AUC of which was 0.854. Based on the two models, nomograms were created to visualize the results. CONCLUSION: Two models can be both used for talent identification in Chinese athletes, among which the predicting one can be used in adolescent athletes to predict the development potential of power performance and the identifying one can be used in elite athletes to distinguish and evaluate power athletic status. It can be applied quickly and visually by using the method of nomogram. Supported by key basic research grants from Science and Technology Commission of Shanghai Municipality, GrantNo.16JC1400500.

A Genome-Wide Association Study of Sprint Performance in Elite Youth Football Players

Pickering, C, Suraci, B, Semenova, EA, Boulygina, EA, Kostryukova, ES, Kulemin, NA, Borisov, OV, Khabibova, SA, Larin, AK, Pavlenko, AV, Lyubaeva, EV, Popov, DV, Lysenko, EA, Vepkhvadze, TF, Lednev, EM, Leońska-Duniec, A, Pająk, B, Chycki, J, Moska, W, Lulińska-Kuklik, E, Dornowski, M, Maszczyk, A, Bradley, B, Kana-ah, A, Cięszczyk, P, Generozov, EV, and Ahmetov, II. A genome-wide association study of sprint performance in elite youth football players. J Strength Cond Res 33(9): 2344-2351, 2019-Sprint speed is an important component of football performance, with teams often placing a high value on sprint and acceleration ability. The aim of this study was to undertake the first genome-wide association study to identify genetic variants associated with sprint test performance in elite youth football players and to further validate the obtained results in additional studies. Using micro-array data (600 K-1.14 M single nucleotide polymorphisms [SNPs]) of 1,206 subjects, we identified 12 SNPs with suggestive significance after passing replication criteria. The polymorphism rs55743914 located in the PTPRK gene was found as the most significant for 5-m sprint test (p = 7.7 × 10). Seven of the discovered SNPs were also associated with sprint test performance in a cohort of 126 Polish women, and 4 were associated with power athlete status in a cohort of 399 elite Russian athletes. Six SNPs were associated with muscle fiber type in a cohort of 96 Russian subjects. We also examined genotype distributions and possible associations for 16 SNPs previously linked with sprint performance. Four SNPs (AGT rs699, HSD17B14 rs7247312, IGF2 rs680, and IL6 rs1800795) were associated with sprint test performance in this cohort. In addition, the G alleles of 2 SNPs in ADRB2 (rs1042713 & rs1042714) were significantly over-represented in these players compared with British and European controls. These results suggest that there is a genetic influence on sprint test performance in footballers, and identifies some of the genetic variants that help explain this influence.

Genetic Markers Associated with Power Athlete Status.

Athletic performance is a multifactorial phenotype influenced by environmental factors as well as multiple genetic variants. Different genetic elements have a great influence over components of athletic performance such as endurance, strength, power, flexibility, neuromuscular coordination, psychological traits and other features important in sport. The current literature review revealed that to date more than 69 genetic markers have been associated with power athlete status. For the purpose of the present review we have assigned all genetic markers described with reference to power athletes status to seven main groups: 1) markers associated with skeletal muscle structure and function, 2) markers involved in the inflammatory and repair reactions in skeletal muscle during and after exercise, 3) markers involved in blood pressure control, 4) markers involved in modulation of oxygen uptake, 5) markers that are regulators of energy metabolism and cellular homeostasis, 6) markers encoding factors that control gene expression by rearrangement of chromatin fibers and mRNA stability, and 7) markers modulating cellular signaling pathways. All data presented in the current review provide evidence to support the notion that human physical performance may be influenced by genetic profiles, especially in power sports. The current studies still represent only the first steps towards a better understanding of the genetic factors that influence power-related traits, so further analyses are necessary before implementation of research findings into practice.

Association of the ACTN3 R577X (rs1815739) polymorphism with elite power sports: A meta-analysis

ObjectiveThe special status accorded to elite athletes stems from their uncommon genetic potential to excel in world-class power sports (PS). Genetic polymorphisms have been reported to influence elite PS status. Reports of associations between the α-actinin-3 gene (ACTN3) R577X polymorphism and PS have been inconsistent. In light of new published studies, we perform a meta-analysis to further explore the roles of this polymorphism in PS performance among elite athletes.MethodsMulti-database literature search yielded 44 studies from 38 articles. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were used in estimating associations (significance threshold was set at Pa ≤ 0.05) using the allele-genotype model (R and X alleles, RX genotype). Outlier analysis was used to examine its impact on association and heterogeneity outcomes. Subgroup analysis was race (Western and Asian) and gender (male/female)-based. Interaction tests were applied to differential outcomes between the subgroups, P-values of which were Bonferroni corrected (Pinteraction BC). Tests for sensitivity and publication bias were performed.ResultsSignificant overall R allele effects (OR 1.21, 95% CI 1.07–1.37, Pa = 0.002) were confirmed in the Western subgroup (OR 1.11, 95% CI 1.01–1.22, Pa = 0.02) and with outlier treatment (ORs 1.12–1.20, 95% CIs 1.02–1.30, Pa < 10−5–0.01). This treatment resulted in acquired significance of the RX effect in Asian athletes (OR 1.91, 95% CI 1.25–2.92, Pa = 0.003). Gender analysis dichotomized the RX genotype and R allele effects as significantly higher in male (OR 1.14, 95% CI 1.02–1.28, Pa = 0.02) and female (OR 1.58, 95% CI 1.21–2.06, Pa = 0.0009) athletes, respectively, when compared with controls. Significant R female association was improved with a test of interaction (Pinteraction BC = 0.03). The overall, Asian and female outcomes were robust. The R allele results were more robust than the RX genotype outcomes. No evidence of publication bias was found.ConclusionsIn this meta-analysis, we present clear associations between the R allele/RX genotype in the ACTN3 polymorphism and elite power athlete status. Significant effects of the R allele (overall analysis, Western and female subgroups) and RX genotype (Asians and males) were for the most part, results of outlier treatment. Interaction analysis improved the female outcome. These robust findings were free of publication bias.

Association study of SLC6A2 gene Thr99Ile variant (rs1805065) with athletic status in the Brazilian population

Genetic variants in monoamine neurotransmitter genes have been recurrently associated with panic disorder, addiction and mood disorders. Recent evidence also indicates that norepinephrine neurotransmission can influence a series of psychophysical and psychobiological parameters related to athletic performance, and the presence of variants in the SLC6A2 (solute carrier family 6 member 2) gene, which encodes the norepinephrine transporter, can be detrimental to an adequate noradrenergic signaling. Accordingly, the objective of the present study was to explore the SLC6A2 Thr99Ile variant (rs1805065) in a cohort composed of highly-trained individuals and non-trained individuals. A total of 1556 Brazilians: 926 non-athletes and 630 athletes (322 endurance athletes and 308 power athletes) were compared in this case-control association study. The Thr99Ile variant showed only two genotypes (C/C or C/T), and a low minor allele frequency of ≈1%. However, none of the power athletes had the mutant T-allele (i.e., the C/T genotype), which may be related to decreased norepinephrine transporter activity. The genotype distribution and allele frequency observed in power athletes were significantly different when compared to non-athletes or endurance athletes. Therefore, the presence of the T-allele may decrease the chance of belonging to the group of athletes involved in explosive physical tasks. These results still need to be replicated in independent cohorts. However, it appears reasonable to assume that there is an association between the SLC6A2 gene variant and power athletic status.

Analysis of sports-relevant polymorphisms in a large Brazilian cohort of top-level athletes.

In recent years, there have been an increasing number of genetic variants associated with athletic phenotypes. Here, we selected a set of sports-relevant polymorphisms that have been previously suggested as genetic markers for human physical performance, and we examined their association with athletic status in a large cohort of Brazilians. We evaluated a sample of 1,622 individuals, in which 966 were nonathletes, and 656 were athletes: 328 endurance athletes and 328 power athletes. Only the AGT M268T minor allele was nominally associated with the endurance status. Conversely, we found that seven polymorphisms are more frequent in power athletes (MCT1 D490E, AGT M268T, PPARG P12A, PGC1A G482S, VEGFR2 Q472H, NOS3 C/T, and ACTN3 R577X). For all of these polymorphisms, power athletes were more likely than nonathletes or endurance athletes to carry the major allele or the homozygous genotype for the major allele. In particular, MCT1 D490E, AGT M268T, NOS3 C/T, and ACTN3 R577X showed stronger associations. Our findings support a role for these variants in the achievement of power athletic status in Brazilians: MCT1 D490E (T allele), AGT M268T (G allele), PPARG (C allele), PGC1A G482S (C allele), VEGFR2 Q472H (T allele), NOS3 C/T (T allele), and ACTN3 R577X (R allele).

The AGTR2 rs11091046 (A>C) polymorphism and power athletic status in top-level Brazilian athletes

ABSTRACTThe main purpose of this study was to investigate if the rs11091046 (A>C) polymorphism in AGTR2 gene is associated with athletic status in top-level athletes from Brazil. Since the AGTR2 gene is located on the X chromosome, the case-control association study was done separately for women and men. The female cohort was composed of 205 athletes and 241 non-athletes, and the male cohort was composed of 419 athletes and 490 non-athletes. We did not identify an association between the C-allele and the endurance phenotype. However, power athletes had a higher frequency of the A-allele. In women, A/A genotype was overrepresented in international-level power group compared with non-athletes or international-level endurance athletes (23.2% vs. 16.6% or 8.8%, respectively; p < 0.05). In men, the A-allele frequency observed in power athletes or international-level power athletes was statistically different from that observed in non-athletes (51.6% or 57.8% vs. 40.4%; p < 0.009). Furthermore, men sprinters with the A-allele showed significantly faster personal best times for the 100 m than those with the C-allele (10.56 ± 0.32 s vs. 10.93 ± 0.49 s; p < 0.02). In conclusion, it was found that the AGTR2 A-allele is a candidate genetic marker for top-level power athletes.

Single Nucleotide Polymorphisms in Carnosinase Genes (CNDP1 and CNDP2) are Associated With Power Athletic Status.

Carnosine (β-alanyl-L-histidine), abundantly found in skeletal muscle, plays an important role during exercise, especially for high-intensity contractions. Variability in muscle carnosine content between individuals exists and may also be explained by different genetic bases, although no study has addressed the association of polymorphisms in genes related to carnosine metabolism in athletes. This study aimed to investigate the frequency of single nucleotide polymorphisms (SNPs) in the carnosinase genes (CNDP1 and CNDP2) in a large Brazilian cohort of athletes and nonathletes. Eight SNPs were compared between a representative cohort of elite athletes from Brazil (n = 908) and a paired group of nonathletes (n = 967). The athletes were stratified into three groups: endurance (n = 328), power (n = 415), and combat (n = 165). The CNDP2 rs6566810 (A/A genotype) is overrepresented in endurance athletes, but only in international-level endurance athletes. Three SNPs (CNDP2 rs3764509, CNDP2-CNDP1 rs2346061, and CNDP1 rs2887) were overrepresented in power athletes compared with nonathletes. Carriers of the minor allele had an increased odds ratio of being a power athlete. For the rs2346061, no significant difference was observed in genotype frequencies between power and combat sports athletes, but for rs2887 the power and combat groups showed an inverse genotype distribution. In conclusion, we found that minor alleles carriers for CNDP2 rs3764509 (G-allele), CNDP2-CNDP1 rs2346061 (C-allele), and CNDP1 rs2887 (A-allele) are more likely to be a power athlete. These polymorphisms may be novel genetic markers for power athletes. Furthermore, these results are suggestive of a distinct CNDP genotype for sporting development.

Gene polymorphisms determining physical performance in Ukrainian power-oriented events of track and field athletics

Summary Research background and hypothesis. Modern research on the molecular genetics of physical activity shows that increased physical performance is determined by a set of specific genes. However, the systematic genetic studies of high performance athletes for selection and training purposes do not exist to our knowledge and there are no studies for specific sports, which could have made the specialization choices easier . Research aim was to analyse important genetic variations that may underlie differences in the potential to be an elite athlete of power-oriented events of track and field athletics . Research methods. In total, DNA of 73 athletes involved in power-oriented events of track and field athletics and 283 persons not involved in sports (sedentary control) were examined. In this paper, we consider ten candidate-genes and carry out statistical analysis to determine their most favourable polymorphism for power-oriented events of track and field athletics. Using the polymerase chain reaction method І/D (АСЕ), R577X (ACTN3), Т -786 →С (eNOS), Pro/ Ala (PPARG), G/C (PPARA), Pro 582 →Ser (HIF-1α), Ala203Pro (PPARGC1B), C-1306T (MMP2), Ser422Gly (ELN), Tag1A (DRD2) genes polymorphisms were detected in athletes of different abilities. Research results. The significance of differences between group of power-oriented events of track and field athlet ics and the control group on the distribution of allele NO-synthase gene polymorphism and distribution of genotype of metalloproteinase 2 gene polymorphism was found. The frequency of T allele Т -786 →С polymorphism eNOS prevails in the group of athletes by 11.5% (p = 0.02). The frequency of T/T genotype C-1306T (MMP2) is 11.8% (p = 0.003) higher than in the control group. The athletes specializing in different events are characterized by genetic heterogeneity. Favourable alleles for high athletic performance in power-oriented events of athletics were established. Discussion and conclusions. Sports genetics can be used to design better selection and training processes in order to allow athletes to achieve their full potential. Our study provides evidence for the association between gene polymorphisms and elite power athlete status. However, athletes belonging to the same group of sports differ in the distribution of genotypes and allele of gene that associate with elite performance. Only after detection of favourable genotype combination for the particular sport potential of genetic testing in sport will be increased.

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.

Endothelial nitric oxide synthase g894t (rs1799983) gene polymorphism in polish athletes

Abstract The NOS3 gene has been associated with athletic endurance performance and elite power athletic status. With respect to NOS3 G894T and its relation to athletic performance or status, results across various studies have not been consistent. Therefore, the lack of consistency among previous studies prompted us to design a case-control study in a Polish Caucasian population to examine the relationship between the NOS3 G894T polymorphism and athletes' status, i.e. type and intensity of exercise performed (poweroriented, “mixed” power/endurance activity, endurance-oriented) and the possible association between the G894T variant and athletic performance. The case-control study was performed in a group of 360 Polish athletes (cases) of the highest nationally competitive standard (male n=156 and female n=67) and 191 unrelated, sedentary control subjects. The G894T genotype and allele distributions differed significantly between power-oriented (P=0.009, P=0.003), “mixed” (P=0.021, P=0.009), endurance (P=0.043, P=0.014) athletes when compared to control subjects (P values for genotypes and alleles, respectively). There were no significant differences between elite and sub-elite athletes in any group. The over-representation of the GG genotype and G allele in all athletes suggests that the G894 allele may favour all types of sports, however, the strongest predisposition was seen among power-oriented athletes.