Genetic Aspects of Muscular Strength and Size

  • Monica J. HubalEmail author
  • Maria L. Urso
  • Priscilla M. Clarkson
Part of the Molecular and Translational Medicine book series (MOLEMED)


This chapter reviews common genetic variants (single nucleotide polymorphisms; SNPs) that reportedly influence baseline and resistance training induced changes in skeletal muscle size and strength. Genetic variants associated with strength and size have been found in a structural gene (alpha-actinin 3), growth factor genes (e.g., insulin-like growth factor 1 and myostatin), and inflammatory genes (e.g., interleukin 6 and tumor necrosis factor alpha). The biological basis for each of these three categories of genes is discussed and SNP association studies are highlighted. In most cases, single variants and single genes account for low percentages of trait variability on their own and few interactions between multiple genetic variations have been investigated to date. Future studies would benefit from emerging high throughput genotyping methods to enable comparisons across multiple genes, which can enhance identification of multiple gene/loci associations. Potential practical applications of exercise/muscle genomics include the ability to identify individuals with gene variants associated with increased athletic performance, optimization of training and rehabilitation strategies via individually tailored programs, and enhanced musculoskeletal health over the lifespan through the development of gene and pathway targeted therapeutics.


Hypertrophy Resistance training Genetic variants Genotype association Single nucleotide polymorphism Adaptation Fiber type Alpha-actinin 3 Protein synthesis Growth factors Phosphatidylinositol-3-kinase Protein kinase B Mammalian target of rapamycin Insulin-like growth factor Mechano growth factor Myostatin Inflammatory factors Cytokines Tumor necrosis factor alpha Interleukin-6 Interleukin-15 Exercise genomics Polygenic traits Genome wide association study Next generation sequencing Genetic testing Angiotensin converting enzyme Protein phosphatase 3 regulatory subunit B Insulin-like growth factor binding protein 


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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Monica J. Hubal
    • 1
    Email author
  • Maria L. Urso
  • Priscilla M. Clarkson
  1. 1.Department of Integrative Systems BiologyGeorge Washington University School of Medicine, Research Center for Genetic Medicine, Children’s National Medical CenterWashingtonUSA

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