Biological variation in musculoskeletal injuries: current knowledge, future research and practical implications

Area of Science:

• Genetics and Sports Medicine
• Musculoskeletal Injury Research

Background:

• Familial and genetic studies indicate DNA variants contribute to musculoskeletal soft tissue injuries, alongside non-genetic factors.
• These variants may affect collagen structure, mechanical properties, and tissue response to loading, explaining injury susceptibility variations.

Purpose of the Study:

• To highlight the role of genetic variants in musculoskeletal soft tissue injury aetiology.
• To advocate for multidisciplinary consortia for identifying injury-related genetic variants.
• To caution against premature direct-to-consumer genetic testing for injury susceptibility.

Main Methods:

• Review of familial and genetic association studies.
• Discussion of limitations in current hypothesis-driven genetic association studies.
• Emphasis on the need for large, well-characterized cohorts for whole-genome screening.

Main Results:

• Identified DNA variants may explain interindividual differences in musculoskeletal tissue properties and injury response.
• Current direct-to-consumer genetic tests for injury risk are considered premature.
• Established risk factors like family history and previous injuries are more reliable indicators of susceptibility.

Conclusions:

• Future research requires international consortia to identify biologically relevant genetic variants for injury risk.
• Clinicians and coaches should prioritize known risk factors over unvalidated genetic tests for assessing injury susceptibility.
• Individualized management strategies based on comprehensive risk assessment are crucial for athletes.