The Impact of Polymorphisms in AMPD1 and BMP2 Genes on Performance in Female Athletes

Authors : Merve Bektaş

Pages : 47-56

Doi:10.70007/yalovaspor.1571713

View : 49 | Download : 40

Publication Date : 2024-11-08

Article Type : Review Paper

Abstract :Introduction and Aim: Athletic performance refers to the effort exerted by an athlete to achieve a specific performance goal within a certain period of time. In addition to training, nutrition, psychology, and genetics play significant roles in determining and enhancing athletic performance. Numerous studies have investigated how certain genetic variants can influence athletes\\\' physical abilities such as strength, aerobic or anaerobic endurance, and speed. Among these genes are Bone Morphogenetic Protein 2 (BMP2) and Adenosine Monophosphate Deaminase 1 (AMPD1). Although the BMP2 gene is not the direct focus of many studies on sports performance, it is considered a gene with indirect effects in the field of sports genetics. The rs17602729 polymorphism in the AMPD1 gene, on the other hand, is suggested to influence performance in short-duration, high-intensity activities (e.g., sprinting and power sports). Investigating these polymorphisms will significantly contribute to the field. Considering these variables, athletes\\\' genetic profiles can be identified, and training programs can be personalized. Method: The study included 13 amateur female athletes, aged between 12-16, who were either short- or long-distance runners, and 13 sedentary girls of the same age group. Blood samples were taken from the participants, and DNA isolation was performed, followed by genotyping using Sanger sequencing. The study investigated the BMP2 gene rs15705 (244A>C) and the AMPD1 gene rs17602729 (c133C>T) polymorphisms. The analyses were conducted using SPSS 24.00 software. Differences between groups in allele distributions were analyzed using the Chi-square/Fisher\\\'s Exact Test. The minimum confidence interval was set at 95%, with p<0.05. Results: Upon examining the genotype distribution of the BMP2 gene A/C polymorphism, it was observed that 46.15% of athletes had the AA genotype, 46.15% had the AC genotype, and 7.69% had the CC genotype. Among the athletes, the allele distribution showed that 69.23% carried the A allele, while 30.76% carried the C allele. The genotype distribution in the control group was found to be 53.84% AA, 46.15% AC, and 0% CC. The allele distributions were 76.92% for the A allele and 23.07% for the C allele. When examining the genotype distribution of the AMPD1 gene C/T polymorphism, it was found that 92.30% of athletes had the CC genotype, 7.69% had the CT genotype, and 0% had the TT genotype. Among athletes, 96.15% carried the C allele, while 3.84% carried the T allele. The genotype distribution in the control group was similarly found to be 92.30% CC, 7.69% CT, and 0% TT. The allele distributions were 96.15% for the C allele and 3.84% for the T allele. Conclusion: In this study, it was observed that the AA and AC genotypes were more represented among athletes in the BMP2 gene A/C polymorphism. Considering that the athletes are middle- and long-distance runners, it is thought that these genotypes may contribute positively to aerobic performance. When examining the effect of the AMPD1 C/T polymorphism on athletic performance, it is noted that in individuals carrying the T allele, the reduction in enzyme activity may slow down energy metabolism. In this study, the frequency of the T allele was found to be quite low (3.84%). The higher representation of the C allele suggests that the athlete group might be more successful in terms of physical performance. However, the effects of the polymorphism on athletic performance are also influenced by environmental factors such as personal differences, training level, and nutrition, meaning that the impact may not be the same for every individual. Therefore, while the athlete group with identified genotypes may seem fortunate in terms of physical performance potential, this alone is not sufficient. Appropriate nutrition and training programs should be implemented to improve and develop their potential.
Keywords : Sporcu, Atletik Performans, Gen, Polimorfizm, Adenosine Monophosphate Deaminase 1 (AMPD1), Bone Morphogenetic Protein 2 (BMP2)