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

Area of Science:

• Genetics
• Orthopedics
• Sports Medicine

Background:

• Anterior cruciate ligament (ACL) injury is a common sports injury.
• Genetic predisposition plays a significant role in ACL injury risk.

Purpose of the Study:

• To systematically review and meta-analyze the association between the COL5A1 rs13946 polymorphism and anterior cruciate ligament injury (ACLI) susceptibility.

Main Methods:

• Systematic literature search across multiple databases (PubMed Central, Web of Science, EBSCOhost, Scopus, CNKI).
• Newcastle-Ottawa Scale (NOS) for bias assessment.
• Meta-analysis using RevMan 5.4 to calculate odds ratios (OR) and 95% confidence intervals (95% CI).

Main Results:

• Seven studies were included in the meta-analysis.
• No significant heterogeneity was found across five genetic models.
• Significant associations were observed in the recessive (OR = 1.29, p = 0.01) and allele (OR = 0.85, p = 0.04) models.
• The TT genotype or T allele of rs13946 showed susceptibility to ACLI, especially in Caucasians.

Conclusions:

• The COL5A1 rs13946 polymorphism is associated with the risk of anterior cruciate ligament injury (ACLI).
• The C/- genotype of rs13946 may offer protection against ACLI in Caucasian populations.
• Further research with larger, gender-balanced cohorts is recommended to validate findings.