INTRODUCTION: Different genetic elements have a significant impact on the components of sporting characteristics (such as endurance, power, sprint, flexibility etc.). Studies show that proteins in muscle fibers such as myoglobin (encoded by the MB gene) and mitochondrial transcription factor A (encoded by the TFAM gene) are actively involved in aerobic exercise. Myoglobin providing oxygen to the working muscles and TFAM plays an important role in the maintenance of mitochondrial DNA integrity. Therefore, the aim of this case-control association study was to investigate and evaluate MB (rs7293, c.174G>A) and TFAM (rs1937, c.35G>C, p.Ser12Thr) gene variants on the physical performance in Lithuanian elite athletes. METHODS: A total of 224 elite athletes and 255 non-athlete controls (healthy unrelated Lithuanian citizens) were genotyped for MB rs7293 and TFAM rs1937 variants by restriction fragment length polymorphism method. Statistical analysis was performed using Rv3.2. RESULTS: Significant TFAM rs1937 polymorphism genotypes distribution were determined between the athletes and controls (GG/GC/CC: 68,3/26,8/4,9% vs 80,0/18,7/1,2%, p = 0.04). Additionally, differences in TFAM CC genotype and C allele frequencies were observed between the group of endurance athletes (CC:4,9%; C alelis 18,3 %) and sprint-power (CC: 0%; C alelis 7,1%; p<0.05). Analysis of the MB rs7293 polymorphism showed that the G allele (58.8%) is more common among male athletes compared to men in the control group (G allele 49.4%; p <0.03) and the MB GG genotype is more common in the endurance group (38.3%) compared to the sprint-power group (27%), team game athletes (12.7%) and control group (27.5%) (p <0.05). CONCLUSION: Our findings provide support for an association between MB rs7293 and TFAM rs1937 and athletic status in endurance sports. The MB GG genotype and TFAM CC genotype are associated with endurance performance and determines aerobic capacity in Lithuanian elite athletes. It can be argued that the MB rs7293 and TFAM rs1937 genetic markers can be interpreted as overexposing factors for high scores in elite endurance sports. However, these genetic variants should be studied in a larger group of athletes, and the association needs to be confirmed in other populations around the world.
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