The AMPD1 gene rs17602729 polymorphism and athletic performance in track and field athletes

The present study was designed to investigate any possible association of the Adenosine monophosphate deaminase-1 (AMPD1) gene polymorphism rs17602729 with the performance of elite athletes. A total of 60 elite athletes, divided into a group of sprinters/power athletes (n = 31) and a group of endurance athletes (n = 29), together with 20 control or sedentary individuals, aged 18–35 years, voluntarily participated in this study. The performance levels of the athletes, based on their personal bests (PBs), were assessed using the World Athletics (WA) score. Whole exome sequencing (WES) was conducted on genomic DNA isolated from the blood samples of the participants. The study aimed to compare the link between sport type, sex, PB, and rs17602729 polymorphism within and between these groups, using linear regression models. The results revealed a statistically significant difference in the distribution of the GG, GA, and AA genotypes of the rs17602729 polymorphism both within and between the groups (p < 0.05). However, there were no statistically significant differences in the association of the rs17602729 polymorphism with the PBs of the athletes within the groups (p > 0.05). In conclusion, when considering the findings from the literature and those obtained in the current study, it can be inferred that the rs17602729 polymorphism allele G may confer an advantage to sprinters and power athletes. However, further studies involving a larger number of participants and multi-genetic approaches are required to substantiate this conclusion.