PPARα gene variation and physical performance in Russian athletes

Abstract

Peroxisome proliferator-activated receptor alpha (PPARalpha) regulates genes responsible for skeletal and heart muscle fatty acid oxidation. Previous studies have shown that the PPARalpha 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). PPARalpha 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 PPARalpha 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, PPARalpha intron 7 G/C polymorphism was associated with physical performance in Russian athletes, and this may be explained, in part, by the association between PPARalpha genotype and muscle fiber type composition.

Mitochondrial biogenesis related endurance genotype score and sports performance in athletes

“…We selected six polymorphisms in the PPARGC1A-NRF-TFAM pathway genes that are known to be associated with endurance exercise performance capacity: (i) NRF2 A/C (rs12594956) (Eynon et al 2009a); (ii) NRF2 A/G (rs7181866) (Eynon et al 2009d;He et al 2008); (iii) NRF2 C/T (rs8031031) (Eynon et al 2009a); (iv) peroxisome proliferator-activated receptor alpha (PPARA) intron 7 G/C (rs4253778) (Ahmetov et al 2006;Eynon et al 2009b); (v) PPARD C294T (Eynon et al 2009c;Skogsberg et al 2003);and (vi) PPARGC1A Gly482Ser (Eynon et al 2009c;Lucia et al 2005). …”

Gene variants related to the power performance of the Lithuanian athletes

“…The peroxisome proliferator-activated receptor α is a ligand-activated transcription factor which regulates expression of genes, involved in fatty acid uptake and oxidation, glucose and lipid metabolism [1,[20][21][22][23]. Endurance training increases the use of non-plasma fatty acids and may enhance skeletal muscle oxidative capacity through PPARA regulation of gene expression [21].…”

Gene Polymorphisms and Fiber-Type Composition of Human Skeletal Muscle

“…Recently, it was demonstrated that the frequency of the PPARA rs4253778 GG genotype was significantly higher in Russian endurance-oriented athletes (Ahmetov et al, 2006), elite Israeli endurance athletes (Eynon et al, 2010), and elite Polish rowers than in controls or sprinters (Maciejewska, Sawczuk, & Cieszczyk, 2011). In accordance with the hypothesis that the observations of allele-frequency differences among athletes are mediated via fiber type, the mean percentage of Type I muscle fiber (determined by immunohistochemistry) was higher in GG homozygotes (55.5% ± 2.0%) than in CC genotype subjects (38.5% ± 2.3%) in a group of 40 physically active healthy men (Ahmetov et al, 2006).…”