title: The PPARGC1A gene Gly482Ser in Polish and Russian athletes.
abstract: Peroxysome proliferator-activated receptor gamma coactivator-1-alpha (PGC-1α; 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 < 0.0001). A statistically significant low frequency of the 482Ser allele was observed among the endurance,strength-endurance, and sprint-strength groups of Polish athletes (P = 0.019, P = 0.022, and P < 0.0001, respectively). The replication study revealed that the 482Ser allele was also less prevalent in Russian endurance and strength-endurance athletes (P = 0.029 and P < 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.
authors: Department of Genetics, University of Szczecin, Szczecin, Poland. maciejewska.us@wp.pl
authors: Agnieszka
authors: A
authors: Maciejewska
authors: Marek
authors: M
authors: Sawczuk
authors: Pawel
authors: P
authors: Cieszczyk
authors: Irina A
authors: IA
authors: Mozhayskaya
authors: Ildus I
authors: II
authors: Ahmetov
mesh_terms: D000328:Adult; D056352:Athletes; D054874:Athletic Performance; D015331:Cohort Studies; D005260:Female; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D053580:Muscle Strength / Q000235:genetics; D000071248:Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; D010807:Physical Endurance / Q000235:genetics*; D011044:Poland; D011110:Polymorphism, Genetic; D012426:Russia; D014157:Transcription Factors / Q000235:genetics*; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D006360:Heat-Shock Proteins; C486497:PPARGC1A protein, human; D000071248:Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; D014157:Transcription Factors