rs8192678
rs8192678 is a missense variant in PPARGC1A (encoding PGC-1alpha, a master regulator of mitochondrial biogenesis), producing the Gly482Ser amino-acid substitution. The ancestral Gly allele is associated with higher PPARGC1A expression and more favorable adaptation to endurance training, including greater exercise-induced increases in oxidative slow-twitch muscle fiber proportion, while the Ser allele is linked to blunted training response and higher risk of metabolic syndrome and type 2 diabetes. It is used as a marker of aerobic/endurance trainability.
Traits rs8192678 reads
Gene
Reference databases
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