COL5A1 rs13946 Polymorphism and Anterior Cruciate Ligament Injury: Systematic Review and Meta-Analysis

Anterior cruciate ligament (ACL) injury (ACLI) is a prevalent sports injury. Genetic factors play a crucial role in determining the risk of ACLI. This systematic review aimed to identify the association between the COL5A1 rs13946 polymorphism and susceptibility to ACLI. Methods: Searches were performed in PubMed Central, Web of Science, EBSCOhost, Scopus, and CNKI. The Newcastle-Ottawa Scale (NOS) was used to assess potential bias, and data from the included studies were analyzed using RevMan 5.4. The odds ratio (OR) and 95% confidence intervals (95% CI) were calculated to determine the strength of the association between COL5A1 rs13946 and the risk of anterior cruciate ligament injury. A p value < 0.05 was considered statistically significant. Seven studies met the inclusion criteria for screening the association between COL5A1 rs13946 and ACL injury and were included in this meta-analysis. The meta-analysis revealed no significant heterogeneity across five genetic models. Statistically significant findings were observed in the recessive (OR = 1.29, 95% CI [1.06, 1.58], p = 0.01) and allele models (OR = 0.85, 95% CI [0.73, 1.00], p = 0.04). The TT genotype or T allele of rs13946 showed a distinct susceptibility to ACLI under the recessive model, particularly in Caucasians. This study supports the association between COL5A1 rs13946 and the risk of ACLI, particularly in Caucasians. More specifically, the C/- genotype of rs13946 provides protection against ACLI in Caucasians. Further research with larger sample sizes and well-balanced gender-specific cohorts is necessary to validate this association and strengthen our findings.