Polygenic Collagen Variants and Their Association With Ligament Injury Patterns in Patients With Knee Ligament
Jurgen Frese-Arroyo1, Santiago De la Garza-Castro1, José F Vílchez-Cavazos1
1Orthopedics and Traumatology Service, "Dr. José Eleuterio González" University Hospital, Universidad Autónoma de Nuevo León, Monterrey, MEX.
Cureus
|February 16, 2026
Summary
Genetic factors, specifically a polygenic burden in collagen genes, may increase susceptibility to knee ligament injuries like anterior cruciate ligament (ACL) tears, especially in non-contact injuries. This suggests a multifactorial approach for personalized injury risk assessment.
Area of Science:
- Orthopedics
- Genetics
- Sports Medicine
Background:
- Knee ligament injuries, such as anterior cruciate ligament (ACL) tears, significantly impair physically active individuals.
- While biomechanical and environmental factors are known contributors, genetic variability in collagen-related genes is increasingly implicated in ligament injury susceptibility.
- Previous research often focused on elite athletes, limiting generalizability to clinical settings.
Purpose of the Study:
- To investigate the association between specific collagen gene polymorphisms and knee ligament injuries in a general adult patient population.
- To determine if a polygenic score, integrating multiple genetic variants, is associated with injury severity or mechanism.
- To explore the role of genetic factors in susceptibility to knee ligament injuries beyond isolated variants.
Main Methods:
- A prospective cross-sectional study involving 94 adult patients with confirmed knee ligament injuries.
- Data collection included demographic information, sports participation, injury mechanisms, and genomic DNA from buccal swabs.
- Genotyping of COL1A1 (rs1107946), COL1A2 (rs42524), and COL3A1 (rs1800255) polymorphisms was performed using real-time PCR, with a polygenic score calculated.
Main Results:
- No single polymorphism individually correlated significantly with knee ligament injury severity.
- Patients with multiligament injuries and non-contact injury mechanisms showed a significantly higher polygenic burden.
- A higher polygenic burden was observed in non-contact injury cases compared to contact-related mechanisms.
Conclusions:
- Knee ligament injury susceptibility appears influenced by a cumulative polygenic genetic component rather than isolated gene variants.
- These findings support a multifactorial approach to assessing knee ligament injury risk.
- Genetic factors may play a role in developing personalized strategies for injury prevention.
Keywords:
anterior cruciate ligamentcollagen polymorphismsknee ligament injurypolygenic susceptibilitysports-related knee injuryMore Related Videos
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