Association Between rs1815739 Polymorphism of ACTN3 Gene and Athletic Ability in Chinese Sprinters

The aim of this study was to investigate the prevalence of the ACTN3 rs1815739 polymorphism and to study its association with athletes' level of competition and lower-extremity power.

Time-of-flight mass spectrometry (TOFMS) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques were employed to identify the ACTN3 rs1815739 genotypes and allele frequencies in 108 elite sprinters and 206 untrained controls. Questionnaires were then used to assess subjects' 100 m sprint, standing jump (SJ) and standing triple jump (STJ) personal best record.

(1) The RR, RX and XX genotype distribution of the ACTN3 rs1815739 polymorphism is 42.6%, 49.1%, 8.3%, respectively. R and X alleles frequency is 67.1% and 32.9%, respectively, which comply with Hardy Weinberg equilibrium (HWE) through Chi-square (χ²) tests (χ² = 0.661; df = 2; P = 0.718). (2) Significant differences were found in R allele frequency between the elite sprinter group and controls. (3) The athletes' 100 m sprint, SJ, and STJ personal best records were better in those with RR and RX than XX genotype. A significant association was observed between the R alleles and 100 m sprint, SJ, and STJ results of male and female athletes.

The present results indicate that ACTN3 rs1815739 polymorphism has a significant association with speed and lower-extremity power in sprint/power athletes.