Polygenic Modeling of Muscle Fibers Composition

The present study investigated the genetic architecture of muscle fibers composition by means of the genome-wide association study and polygenic score modeling. Hundred thousands of single genetic variants and aggregated signal from multiple genetic variants were tested for an association with a proportion of the type I muscle fibers. We found several suggestively associated genetic variants (p-value < 0.00001) that can be potentially replicated with a larger cohort. The polygenic scores for 165 individuals using 49,105 genetic variants identified a significant association between the polygenic component and muscle fibers ratio (linear regression p-value = 0.00012). The present work provides new insights into the complex genetic structure of the muscle fibers.