Background: Several single-nucleotide variants (SNVs) in collagen genes have been reported as predisposing factors for anterior cruciate ligament (ACL) tears. However, the evidence is conflicting and does not support a clear association between genetic variants and risk of ACL ruptures.
Purpose: To assess the association of previously identified candidate SNVs in genes encoding for collagen and the risk of ACL injury in a population of elite female athletes from high-risk team sports.
Study design: Cohort study; Level of evidence, 2.
Methods: A total of 851 female Norwegian and Finnish elite athletes from team sports were included from 2007 to 2011. ACL injuries acquired before inclusion in the cohort were registered by interview. The participants were followed prospectively through 2015 to record new complete ACL injuries. Six selected SNVs were genotyped ( COL1A1: rs1800012, rs1107946; COL3A1: rs1800255; COL5A1: rs12722, rs13946; COL12A1: rs970547).
Results: No associations were found between ACL rupture and the SNVs tested.
Conclusion: The study does not support a role of the 6 selected SNVs in genes encoding for collagen proteins as risk factors for ACL injury.
Clinical relevance: Genetic profiling to identify athletes at high risk for ACL rupture is not yet feasible.
Keywords: anterior cruciate ligament; female athlete; gene polymorphisms; genetic risk; team sports.