Type V collagen genotype and exercise-related phenotype relationships: a novel hypothesis.

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.