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Background Anterior cruciate ligament (ACL) rupture is a common and severe knee injury in sports and occurs mostly due to noncontact injuries. There is an increasing amount of evidence associating ACL rupture to single nucleotide polymorphisms (SNPs), and SNPs in the collagen type I genes can change its expression and tissue mechanical features. This study aimed to investigate the association between SNPs in  COL1A1  and  COL1A2  with sports-related ACL tears. Methods A total of 338 athletes from multiple sports modalities were analyzed: 146 were diagnosed with ACL rupture or underwent an ACL reconstruction surgery and 192 have no musculoskeletal injuries. SNPs were genotyped using validated TaqMan assays. The association of the polymorphisms with ACL rupture was evaluated by a multivariable logistic regression model, using odds ratios (OR) and 95% confidence intervals (CI). Results The age, sport modality, and training location were associated with an increased risk of a non-contact ACL tear.  COL1A2  SNPs (rs42524  CC  and rs2621215  GG ) were associated with an increased risk of non-contact ACL injury (6 and 4-fold, respectively). However, no significant differences were detected in the distribution of  COL1A1 rs 1107946 and  COL1A2  rs412777 SNPs between cases and controls. There was a protective association with ACL rupture (OR = 0.25; 95% CI = 0.07–0.96) between  COL1A1  rs1107946 ( GT  or  TT ) and the wildtype genotypes of the three  COL1A2  (rs412777 ,  rs42524 ,  rs2621215).  COL1A2  rs42524 and rs2621215 SNPs were associated with non-contact ACL risk. Conclusion The combined analysis of  COL1A1 - COL1A2  genotypes suggests a gene-gene interaction in ACL rupture susceptibility.

Influence of type I collagen polymorphisms and risk of anterior cruciate ligament rupture in athletes: a case-control study