Aim: To study the relationship between the ACTN3 R577X polymorphism and oxygen uptake (VO2) before and after exercise training.
Methods: Police recruits (N=206, 25±4 y) with RR (n=75), RX (n=97), and XX (n=33) genotypes were selected. After baseline measures, they underwent 18 wk of running endurance training. Peak VO2 was obtained by cardiopulmonary exercise testing.
Results: Baseline body weight was not different among genotypes. At baseline, XX individuals displayed higher VO2 at anaerobic threshold, respiratory compensation point, and exercise peak than did RR individuals (P<.003). Endurance training significantly increased VO2 at anaerobic threshold, respiratory compensation point, and exercise peak (P<2×10(-6)), but the differences between XX and RR were no longer observed. Only relative peak VO2 exercise remained higher in XX than in RR genotype (P=.04). In contrast, the increase in relative peak VO2 was greater in RR than in XX individuals (12% vs 6%; P=.02).
Conclusion: ACTN3 R577X polymorphism is associated with VO2. XX individuals have greater aerobic capacity. Endurance training eliminates differences in peak VO2 between XX and RR individuals. These findings suggest a ceiling-effect phenomenon, and, perhaps, trained individuals may not constitute an adequate population to explain associations between phenotypic variability and gene variations.