The PPARGC1A gene Gly482Ser in Polish and Russian athletes

Abstract

Peroxysome proliferator-activated receptor gamma coactivator-1-alpha (PGC-1a; encoded by the gene PPARGC1A in humans) is a crucial component in training-induced muscle adaptation because it is a co-activator of transcriptional factors that control gene expression in coordinated response to exercise. It has been suggested that a Gly482Ser substitution in PPARGC1A has functional relevance in the context of human disorders and athletic performance. To test this hypothesis, we examined the genotype distribution of PPARGC1A Gly482Ser in a group of Polish athletes and confirmed the results obtained in a replication study of Russian athletes. We found that the 482Ser allele was under-represented in the cohort of Polish and Russian athletes examined compared with unfit controls (P 50.0001). A statistically significant low frequency of the 482Ser allele was observed among the endurance, strength-endurance, and sprint-strength groups of Polish athletes (P1/4 0.019, P1/40.022, and P5 0.0001, respectively). The replication study revealed that the 482Ser allele was also less prevalent in Russian endurance and strength-endurance athletes (P1/4 0.029 and P5 0.0001, respectively). Our results suggest that the PPARGC1A Gly482Ser polymorphism is associated with elite endurance athletic status. These findings support the hypothesis that the PPARGC1A 482Ser allele may impair aerobic capacity: thus, the Gly482 allele may be considered a beneficial factor for endurance performance. © 2012 Taylor & Francis.