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Genome-Wide Association Study Identifies <i>CDKN1A</i> as a Novel Locus Associated with Muscle Fiber Composition.


ABSTRACT: Muscle fiber composition is associated with physical performance, with endurance athletes having a high proportion of slow-twitch muscle fibers compared to power athletes. Approximately 45% of muscle fiber composition is heritable, however, single nucleotide polymorphisms (SNP) underlying inter-individual differences in muscle fiber types remain largely unknown. Based on three whole genome SNP datasets, we have shown that the rs236448 A allele located near the cyclin-dependent kinase inhibitor 1A (CDKN1A) gene was associated with an increased proportion of slow-twitch muscle fibers in Russian (n = 151; p = 0.039), Finnish (n = 287; p = 0.03), and Japanese (n = 207; p = 0.008) cohorts (meta-analysis: p = 7.9 × 10−5. Furthermore, the frequency of the rs236448 A allele was significantly highe

SUBMITTER: Semenova EA 

PROVIDER: S-EPMC9737696 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature