Association of mitochondrial transcription factor (TFAM) gene polymorphism with physical performance in athletes

The distribution of allele frequencies for the Ser12Thr mitochondrial transcription factor (TFAM) gene polymorphism was studied in athletes (n = 1537) and control subjects (n = 1113) and the relationship between genotypes and aerobic physical performance was estimated in boat racers (n = 90). Genotyping was performed using analysis of restriction fragment length polymorphism (RFLP). Indices of aerobic physical performance such as maximum oxygen consumption (VO2max) and maximum aerobic power (Wmax) were examined in a test with incremental test to exhaustion, which was performed using a rowing ergometer. It was found that the frequency of the TFAM 12Thr allele in the group of endurance-oriented athletes (n =588) was significantly higher than in the control subjects (14.0% vs. 9.1%; p < 0.0001). In the group of endurance-oriented athletes, it increased with the rise of the athletes’ skill level. Moreover, data on W max and VO2max were used to reveal the relationship between the TFAM 12Thr allele and the physical performance in athletes. Thus, the Ser12Thr TFAM gene polymorphism is associated with physical performance in athletes.