Since this association was identified for the run component of the triathlon, and COL5A1 rs12722 was previously associated with the run component in this cohort, inferred pseudo-haplotypes between COL3A1 rs1800255 G/A, COL5A1 rs12722 T/C and COL12A1 rs970547 A/G were constructed (Fig.
Previously, we showed the association of COL5A1 rs12722 (T/C) and COL6A1 rs35796750 (T/C) with endurance running and endurance cycling performance, respectively, in the SA Ironman triathlon.
Furthermore, since the COL5A1 rs12722 variant was previously associated with endurance running, additional gene-gene inter actions between COL3A1 rs1800255, COL5A1 rs12722 and COL12A1 rs970547 were investigated.
Furthermore, these variants also interacted with COL5A1 rs12722 to modulate endurance running performance.
Sequence variants within the 3'-UTR of the COL5A1 gene alters mRNA stability: Implications for musculoskeletal soft tissue injuries.
This could explain the finding of a significant linear trend in the COL5A1 BstUI RFLP CC genotype frequency and an increased chronological age in the male subjects analysed.
It does however suggest that the COL5A1 BstUI RFLP, as a risk factor for musculoskeletal soft-tissue injuries, is not age dependent in females.
In conclusion, there was an age-dependent significant increase in distribution of the COL5A1 BstUI RFLP CC genotype in the pooled asymptomatic male participants of the three studies which previously investigated this polymorphism as a possible risk factor for soft-tissue injuries.
Genetic variants, such as the COL5A1 BstUI RFLP, may have a significant impact on the prevention of musculoskeletal soft-tissue injures.