PPARα gene variation and physical performance in Russian athletes

Peroxisome proliferator-activated receptor alpha (PPAR alpha) regulates genes responsible for skeletal and heart muscle fatty acid oxidation. Previous studies have shown that the PPAR alpha intron 7 G/C polymorphism was associated with left ventricular growth in response to exercise. We speculated that GG homozygotes should be more prevalent within a group of endurance-oriented athletes, have normal fatty acid metabolism, and increased percentages of slow-twitch fibers. We have tested this hypothesis in the study of a mixed cohort of 786 Russian athletes in 13 different sporting disciplines prospectively stratified by performance (endurance-oriented athletes, power-oriented athletes and athletes with mixed endurance/power activity). PPAR alpha intron 7 genotype and allele frequencies were compared to 1,242 controls. We found an increasing linear trend of C allele with increasing anaerobic component of physical performance (P=0.029). GG genotype frequencies in endurance-oriented and power-oriented athletes were 80.3 and 50.6%, respectively, and were significantly (P < 0.0001) different compared to controls (70.0%). To examine the association between PPAR alpha gene variant and fiber type composition, muscle biopsies from m. vastus lateralis were obtained and analyzed in 40 young men. GG homozygotes (n=25) had significantly (P=0.003) higher percentages of slow-twitch fibers (55.5 +/- 2.0 vs 38.5 +/- 2.3%) than CC homozygotes (n=4). In conclusion, PPAR alpha intron 7 G/C polymorphism was associated with physical performance in Russian athletes, and this may be explained, in part, by the association between PPAR alpha genotype and muscle fiber type composition.