Type V Collagen Genotype and Exercise-Related Phenotype Relationships

In Brief We have shown that a variant within COL5A1, which encodes a subunit of type V collagen, is associated with injury and performance phenotypes. Although seemingly unrelated, these phenotypes are associated directly or indirectly with the mechanical properties of musculoskeletal soft tissue. We therefore hypothesize that variants in the COL5A1 gene alter fibril architecture and structure and, thereby, mechanical properties. A hypothesis that explains the associations previously found between a COL5A1 gene variant with injury and performance-related phenotypes.