title: The COL1A1 gene and acute soft tissue ruptures.
abstract: Three studies have suggested that the rare TT genotype of the functional Sp1 binding site polymorphism within intron 1 of COL1A1 is associated with cruciate ligament ruptures (CL), shoulder dislocations (SD) and/or 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 TT genotype, when compared to the control group (4.1%, n=24 of 581), was significantly under-represented in the (1) CL (0.3%, n=1 of 350, OR=15.0, P=0.0002), (2) CL and SD (0.4% TT genotype, n=2 of 476, OR=10.2, P<0.0001), and (3) CL, SD and Achilles tendon ruptures (0.4% TT genotype, n=2 of 517, OR=11.1, P<0.0001) groups. This combined analysis indicates that the TT genotype appears to be protective against acute soft tissue ruptures and should be incorporated into multifactorial models determining risk of acute soft tissue ruptures.
authors.affiliation: South African Medical Research Council, Cape Town, South Africa. malcolm.collins@uct.ac.za
authors.forename: Malcolm
authors.initials: M
authors.lastname: Collins
authors.forename: Michael
authors.initials: M
authors.lastname: Posthumus
authors.forename: Martin P
authors.initials: MP
authors.lastname: Schwellnus
mesh_terms: D000125:Achilles Tendon / Q000293:injuries*; D000070598:Anterior Cruciate Ligament Injuries; D024042:Collagen Type I / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors; D012421:Rupture / Q000235:genetics; D012783:Shoulder Dislocation / Q000235:genetics*; D013708:Tendon Injuries / Q000235:genetics*
chemical_list: D024042:Collagen Type I