Abstract
Background. It has been shown that there is an association between various genetic variants and Achilles tendon injuries as well as anterior cruciate ligament (ACL) ruptures. Among other variants the BstUI restriction fragment length polymorphism (RFLP) within the COL5A1 gene has been shown to be over-represented in asymptomatic participants when compared with those with chronic Achilles tendinopathy, and in asymptomatic female participants when compared with those with ACL ruptures. The male asymptomatic control participants in the ACL study, which were 10 years younger than previously investigated cohorts, had a distinctly different genotype frequency. Aim. The aim of this study was therefore to determine whether the distribution of the COL5A1 BstUI RFLP in the combined asymptomatic participants without any known history of tendon injuries is age dependent, particularly among males. Results. When the 265 male asymptomatic participants from all studies were pooled and divided into age-group tertiles, there was a significant linear increase in the CC genotype frequency (p=0.032) among the male age groups, with the youngest group having the lowest frequency (CC genotype frequency, 13%) and the oldest group having the highest (CC genotype frequency, 27%) frequency. There was however a similar CC genotype content in all three female (N=231) age groups (CC genotype frequency, 24 - 27%; p=0.795). Conclusion. The practical implication is that the selection of asymptomatic groups is of critical importance when future studies of this nature are designed. Future research investigating this genetic variant as a risk factor for soft-tissue injuries should consider these findings when selecting asymptomatic participants.
Highlights
Acute and chronic musculoskeletal soft-tissue injuries are common during participation in physical activity.[1]
The practical implication is that the selection of asymptomatic groups is of critical importance when future studies of this nature are designed. Future research investigating this genetic variant as a risk factor for soft-tissue injuries should consider these findings when selecting asymptomatic participants
Anterior cruciate ligament (ACL) ruptures and chronic Achilles tendinopathy, genetic components have been identified as intrinsic risk factors
Summary
Acute and chronic musculoskeletal soft-tissue injuries are common during participation in physical activity.[1]. A similar finding was reported when female participants with ACL ruptures were compared with asymptomatic female controls.[5] All control groups in these studies were matched for physical activity and physiological characteristics. These data suggest that individuals with a CC genotype are protected, despite the particular load and/or external forces applied to their musculoskeletal soft tissues. Among other variants the BstUI restriction fragment length polymorphism (RFLP) within the COL5A1 gene has been shown to be over-represented in asymptomatic participants when compared with those with chronic Achilles tendinopathy, and in asymptomatic female participants when compared with those with ACL ruptures. The aim of this study was to determine whether the distribution of the COL5A1 BstUI RFLP in the combined asymptomatic participants without any known history of tendon injuries is age dependent, among males
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