What question did this study set out to answer?

To clarify the association between the COL1A1 rs1800012 polymorphism and ACL injury risk.

March 13, 2026European Journal of Translational Myology0 citationsOpen Access

The role of SP1 (rs1800012) in anterior cruciate ligament injuries: updated meta-analysis

AKAbdulrahman Bani KahledYarmouk University EBEsra BarodiUniversity of Kalamoon SDSajeda DarajahJordan University of Science and Technology

Key Points

To clarify the association between the COL1A1 rs1800012 polymorphism and ACL injury risk.
Conducted a meta-analysis of case-control and cohort studies on ACL injuries.
Performed systematic searches in PubMed, Embase, Web of Science, and Scopus.
Calculated pooled odds ratios and 95% confidence intervals using random-effects meta-analysis.
Assessed study quality and evaluated publication bias and heterogeneity.
Included nine studies with 1,171 ACL injury cases and 2,005 controls.
TT genotype showed significant protection against ACL injuries under the recessive model (OR = 0.49).
TG genotype associated with increased ACL injury risk under the overdominant model (OR = 1.28).
No significant associations found for allele contrast or dominant models.
Heterogeneity was low, confirming the robustness of the findings.

Abstract

The Anterior Cruciate Ligament (ACL) is vital for knee stability, and its rupture is a major orthopedic concern with significant health and economic impacts. Evidence suggests a substantial hereditary component in ACL injury susceptibility, with the COL1A1 rs1800012 (SP1) polymorphism frequently studied but with inconsistent results. To clarify the association between the rs1800012 in COL1A1 and ACL injury risk, this meta-analysis synthesized data from case-control and cohort studies focusing exclusively on ACL injuries. Systematic searches of PubMed, Embase, Web of Science, and Scopus identified studies up to June 2025. Eligible studies included individuals diagnosed with ACL injuries and healthy controls, reporting genotype frequencies for rs1800012. Pooled Odds Ratios (OR) and 95% Confidence Intervals (CI) were calculated for various genetic models using random-effects meta-analysis. Study quality was assessed via the Newcastle-Ottawa Scale, and publication bias and heterogeneity were evaluated. Nine studies (1,171 cases, 2,005 controls) were included. The TT genotype was significantly protective under the recessive model (TT vs. TG+GG: OR = 0.49, 95% CI: 0.25-0.97, p = 0.041), and also in direct genotype comparisons (TT vs. TG: OR = 0.41, 95% CI: 0.21-0.80, p = 0.009). Conversely, the TG genotype increased ACL injuries risk under the overdominant model (TG vs. TT+GG: OR = 1.28, 95% CI: 1.07-1.52, p = 0.006) and when compared to GG (TG vs. GG: OR = 1.24, 95% CI: 1.05-1.48, p = 0.014). No significant associations were observed under the allele contrast (T vs. G: OR = 1.04, 95% CI: 0.90-1.21, p = 0.61) or dominant models (TT+TG vs. GG: OR = 1.15, 95% CI: 0.97-1.37, p = 0.10). Heterogeneity was consistently low, and sensitivity analyses confirmed the robustness of these findings. No evidence of publication bias was detected. This meta-analysis demonstrates genotype-specific effects of rs1800012 on ACL injuries risk: the TT genotype is protective, while the TG genotype confers increased risk.

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