# Polygenic Collagen Variants and Their Association With Ligament Injury Patterns in Patients With Knee Ligament Injuries

## TL;DR

This study explores how multiple collagen-related genetic variants may influence the risk and patterns of knee ligament injuries, particularly ACL tears.

## Contribution

The study introduces a polygenic score approach to assess genetic susceptibility to knee ligament injuries in a clinical population.

## Key findings

- Patients with multiligament injuries had a higher polygenic burden compared to those with isolated ACL injuries.
- Non-contact injury mechanisms were associated with a higher polygenic burden.
- Individual genetic variants alone did not show significant associations with injury severity.

## Abstract

Knee ligament injuries, particularly anterior cruciate ligament (ACL) tears, represent a major cause of functional limitation in physically active individuals. While biomechanical and environmental factors are well-established contributors, increasing evidence suggests that genetic variability in collagen-related genes may influence individual susceptibility to ligament injury. Most previous studies, however, have focused on elite athletic populations, limiting their applicability to routine clinical settings. A prospective cross-sectional study was conducted in 94 adult patients with clinically and radiologically confirmed knee ligament injuries. The study was conducted at the University Hospital ‘Dr. José Eleuterio González’ (Hospital Universitario “Dr. José Eleuterio González”), Universidad Autónoma de Nuevo León (UANL), Monterrey, Mexico, a tertiary care university hospital. All participants completed a structured clinical questionnaire addressing demographic characteristics, sports participation, and injury mechanism. Genomic DNA was obtained from buccal swabs, and genotyping of the rs1107946 (COL1A1), rs42524 (COL1A2), and rs1800255 (COL3A1) polymorphisms was performed using real-time polymerase chain reaction. In addition to individual variant analysis, a polygenic score was calculated by integrating the presence of risk-associated genotypes. The study population had a mean age of 28.4 years, with a predominance of male patients and sports-related injuries. Most injuries occurred through non-contact mechanisms and involved complete ACL rupture. Individually, none of the analyzed polymorphisms showed a significant association with injury severity. However, patients with multiligament injuries and those with non-contact injury mechanisms exhibited a significantly higher polygenic burden compared with patients presenting isolated ACL injuries or contact-related mechanisms. These findings suggest that susceptibility to knee ligament injuries is influenced by a polygenic genetic component rather than isolated variants, supporting a multifactorial approach to injury risk assessment and highlighting the potential role of genetic factors in personalized prevention strategies.