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The COL1A1 gene and acute soft tissue ruptures
  1. Malcolm Collins (malcolm.collins{at}
  1. South African Medical Research Council and University of Cape Town, South Africa
    1. Michael Posthumus (michael.posthumus{at}
    1. University of Cape Town, South Africa
      1. Martin P Schwellnus (martin.schwellnus{at}
      1. University of Cape Town, South Africa


        Two studies from South Africa and one from Sweden have suggested that the rare TT genotype of the functional Sp1 binding site polymorphism within intron 1 of the COL1A1 gene is associated with cruciate ligament ruptures, shoulder dislocations and Achilles tendon ruptures. Similar genotype distributions were reported for the control and the injury groups in all three studies. In this report, the data from these studies were combined and analyzed. The main findings are that the TT genotype, when compared to the control group (4.1%, n=24 of 581), was significantly under-represented in 1) the cruciate ligament ruptures group (0.3%, n=1 of 350, OR=15.0, 95% CI 2.0 to 111.7, P=0.0002), 2) the combined cruciate ligament ruptures and shoulder dislocations group (0.4% TT genotype, n=2 of 476, OR=10.2, 95% CI 2.4 to 43.4, P<0.0001), and 3) the combined ligament and tendon ruptures group (0.4% TT genotype, n=2 of 517, OR=11.1, 95% CI 2.6 to 47.2, P<0.0001). Although these data should be interpreted with caution due to the low frequency of this rare genotype, this combined analysis indicates that the TT genotype appears to be protective against acute soft tissue ruptures. We propose that this sequence variant is the first genetic element to be incorporated into multifactorial models predicting the acute soft tissue ruptures.

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