The aim of the study was to identify genetic variants associated with personal best scores in Turkish track and field athletes and to compare allelic frequencies between sprint/power and endurance athletes and controls using a whole-exome sequencing (WES) approach, followed by replication studies in independent cohorts. The discovery phase involved 60 elite Turkish athletes (31 sprint/power and 29 endurance) and 20 ethnically matched controls. The replication phase involved 1132 individuals (115 elite Russian sprinters, 373 elite Russian endurance athletes (of which 75 athletes were with VO_2max measurements), 209 controls, 148 Russian and 287 Finnish individuals with muscle fiber composition and cross-sectional area (CSA) data). None of the single nucleotide polymorphisms (SNPs) reached an exome-wide significance level (p < 2.3 × 10⁻⁷) in genotype–phenotype and case–control studies of Turkish athletes. However, of the 53 nominally (p < 0.05) associated SNPs, four functional variants were replicated. The SIRT1 rs41299232 G allele was significantly over-represented in Turkish (p = 0.047) and Russian (p = 0.018) endurance athletes compared to sprint/power athletes and was associated with increased VO_2max (p = 0.037) and a greater proportion of slow-twitch muscle fibers (p = 0.035). The NUP210 rs2280084 A allele was significantly over-represented in Turkish (p = 0.044) and Russian (p = 0.012) endurance athletes compared to sprint/power athletes. The TRPM2 rs1785440 G allele was significantly over-represented in Turkish endurance athletes compared to sprint/power athletes (p = 0.034) and was associated with increased VO_2max (p = 0.008). The AGRN rs4074992 C allele was significantly over-represented in Turkish sprint/power athletes compared to endurance athletes (p = 0.037) and was associated with a greater CSA of fast-twitch muscle fibers (p = 0.024). In conclusion, we present the first WES study of athletes showing that this approach can be used to identify novel genetic markers associated with exercise- and sport-related phenotypes.

The present study aimed to examine the vitamin D receptor (VDR), rs2228570 polymorphism, and its effect on elite athletes’ performance. A total of 60 elite athletes (31 sprint/power and 29 endurance) and 20 control/ physically inactive, aged 18–35, voluntarily participated in the study. The International Association of Athletics Federations (IAAF) score scale was used to determine the performance levels of the athletes’ personal best (PB). Whole exome sequencing (WES) was performed by the genomic DNA isolated from the peripheral blood of the participants. Sports type, sex, and competitive performance were chosen as the parameters to compare within and between the groups by linear regression models. The results showed no statistically significant difference between the CC, TC, and TT genotypes within and between the groups (p > 0.05). Additionally, our results underlined that there were no statistically significant differences for the association of rs2228570 polymorphism with PBs within the groups of the (p > 0.05) athletes. The genetic profile in the selected gene was similar in elite endurance, sprint athletes, and in controls, suggesting that rs2228570 polymorphism does not determine competitive performance in the analyzed athlete cohort.

The α-actinin-3 (ACTN3) gene rs1815739 (C/T, R577X) polymorphism is a variant frequently associated with athletic performance among different populations. However, there is limited research on the impact of this variant on athlete status and physical performance in basketball players. Therefore, the aim of this study was twofold: (1) to determine the association of ACTN3 rs1815739 polymorphism with changes in physical performance in response to six weeks of training in elite basketball players using 30 m sprint and Yo-Yo Intermittent Recovery Test Level 2 (IR 2) tests, and (2) to compare ACTN3 genotype and allelic frequencies between elite basketball players and controls. The study included a total of 363 individuals, comprising 101 elite basketball players and 262 sedentary individuals. Genomic DNA was isolated from oral epithelial cells or leukocytes, and genotyping was performed by real-time PCR using KASP genotyping method or by microarray analysis. We found that the frequency of the ACTN3 rs1815739 XX genotype was significantly lower in basketball players compared to controls (10.9 vs. 21.4%, p = 0.023), suggesting that RR/RX genotypes were more favorable for playing basketball. Statistically significant (p = 0.045) changes were observed in Yo-Yo IRT 2 performance measurement tests in basketball players with the RR genotype only. In conclusion, our findings suggest that the carriage of the ACTN3 rs1815739 R allele may confer an advantage in basketball.

Background: Current research on athletic performance focuses on genetic variants that contribute significantly to individuals’ performance. ACTN3 rs1815739 and PPARA-α rs4253778 gene polymorphisms are variants frequently associated with athletic performance among different populations. However, there is limited research examining the pre-and post-test results of some variants of athletic performance in soccer players. Therefore, the presented research is to examine the relationships between the ACTN3 rs1815739 and PPARA-α rs4253778 gene polymorphisms and athletic performance improvement rates in adaptations to six weeks of training in elite soccer players using some athletic performance tests. Methodology: Twenty-two soccer players between the ages of 18 and 35 voluntarily participated in the study. All participants were actively engaged in a rigorous six-day-a-week training program during the pre-season preparation period. Preceding and following the training program, a battery of diverse athletic performance tests was administered to the participants. Moreover, Genomic DNA was extracted from oral epithelial cells using the Invitrogen DNA isolation kit (Invitrogen, USA), following the manufacturer’s protocol. Genotyping was conducted using real-time PCR. To assess the pre- and post-test performance differences of soccer players, the Wilcoxon Signed Rank test was employed. Results: Upon analyzing the results of the soccer players based on the ACTN3 genotype variable, it was observed that there were no statistically significant differences in the SJ (Squat Jump), 30m sprint, CMJ (Counter Movement Jump), and DJ (Drop Jump) performance tests (p > 0.05). However, a statistically significant difference was identified in the YOYO IRT 2 (Yo-Yo Intermittent Recovery Test Level 2) and 1RM (One Repetition Maximum) test outcomes (YOYO IRT 2: CC, CT, and TT, p = 0.028, 0.028, 0.008, 0.000, respectively; 1RM: CC, CT, and TT, p = 0.010, 0.34, 0.001, respectively). Regarding the PPARA-α genotype variable, the statistical analysis revealed no significant differences in the SJ, 30m sprint, CMJ, and DJ performance tests (p > 0.05). Nevertheless, a statistically significant difference was observed in the YOYO IRT 2 and 1RM test results (YOYO IRT 2: CC, CG p = 0.001, 0.020; 1RM: CC, p = 0.000) Conclusions: The current study demonstrated significant enhancements in only YOYO INT 2 and 1RM test outcomes across nearly all gene variants following the six-day-a-week training program. Other performance tests, such as the 30m sprint, SJ, CMJ, and DJ tests did not exhibit statistically significant differences. These findings contribute novel insights into the molecular processes involving PPARA-α rs4253778 and ACTN3 rs1815739 that underpin enhancements in endurance (YOYO INT 2) and maximal strength (1RM) aspects of athletic performance. However, to comprehensively elucidate the mechanisms responsible for the association between these polymorphisms and athletic performance, further investigations are warranted. It is thought that the use of field and genetic analyses together to support each other will be an important detail for athletes to reach high performance.

The aim of the current study was to determine whether the rs17602729 polymorphism in the Adenosine monophosphate deaminase-1 (AMPD1) gene is related to elite athlete performance. A total of 60 elite athletes, aged 18–35, who were split into two groups—31 sprinters/power athletes and 29 endurance athletes—as well as 20 control/sedentary individuals, willingly participated in the study. The performance levels of the athletes, based on their personal bests (PBs), were rated using the World Athletics (WA) score. Whole exome sequencing (WES) was performed on the genomic DNA that was extracted from the subjects’ blood samples. Using linear regression models, the study sought to determine the relationship between the athletes’ PB, sex, and sport type and the rs17602729 polymorphism both within and between the groups. The distribution of the GG, GA, and AA genotypes of the rs17602729 polymorphism differed significantly within and between the groups, according to the data (p < 0.05). Nonetheless, no statistically significant variations were observed in the correlation between the athletes’ PBs and the rs17602729 polymorphism among the groups (p > 0.05). In conclusion, the G allele of the ADMP1 rs17602729 polymorphism appears to provide a benefit to sprinters and power athletes. Nonetheless, to confirm this hypothesis, additional research with more participants and a multi-genetic analysis approach is required.