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The association between the COL12A1 gene and anterior cruciate ligament ruptures
  1. Michael Posthumus (mposthumus{at}
  1. University of Cape Town, South Africa
    1. Alison V September (alison.september{at}
    1. The University of Cape Town, South Africa
      1. Deon O'Cuinneagain (deonoc{at}
      1. The Sports Science Orthopaedic Clinic, Cape Town, South Africa
        1. Willem van der Merwe (willem{at}
        1. The Sports Science Orthopaedic Clinic, Cape Town, South Africa
          1. Martin P Schwellnus (martin.schwellnus{at}
          1. The University of Cape Town, South Africa
            1. Malcolm Collins (malcolm.collins{at}
            1. University of Cape Town and the South African Medical Research Council, South Africa


              Background: Anterior cruciate ligament (ACL) ruptures are among the most severe musculoskeletal soft tissue injuries. However, the exact mechanisms which cause these acute injuries are unknown. Recently, sequence variants within two genes, namely COL1A1 and COL5A1, which code for the α1 chains of types I and V collagen respectively, were shown to be associated with ACL ruptures. Type XII collagen, similarly to types I and V collagen, is a structural component of the ligament fibril and is encoded by a single gene, COL12A1.

              Objective: The aim of this study was to investigate whether sequence variants within COL12A1 are associated with ACL ruptures.

              Methods: One hundred and twenty nine (38 female) participants with clinically and surgically diagnosed ACL ruptures, as well as 216 (83 female) physically active controls subjects (CON) without any history of ACL injury were included in this case-control genetic association study. All participants were genotyped for the AluI and BsrI restriction fragment length polymorphisms (RFLPs) within COL12A1.

              Results: The AA genotype of the COL12A1 AluI RFLP was significantly over-represented in the female (OR=2.4, 95% CI 1.0 - 5.5, p=0.048), but not male (p=0.359) ACL participants. There were no genotype differences between the ACL and CON group for the BsrI RFLP.

              Conclusion: The COL12A1 AluI RFLP is associated with ACL ruptures in females. The results suggest that females with an AA genotype are at increased risk of ACL ruptures. These initial genetic-association studies should be explored further and, if repeated, incorporated into multifactorial models developed to identify predisposed individuals.

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