title: Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene.
abstract: A genetic component has been implicated in tendinopathies involving tendon rupture. Type V collagen, a quantitatively minor fibrillar collagen which forms heterotypic fibrils with type I collagen, plays a role in the regulation of the size and configuration of fibrils of the much more abundant component type I collagen. To date, no data on the genetic component of bilateral rupture of the quadriceps tendon have been reported. We describe the presence of BstUI polymorphism of the COL5A1 gene in a man with bilateral rupture of the quadriceps tendon. The COL5A1 (the variant rs12722, BstUI RFLP) can be a candidate gene associated with the development of bilateral quadriceps tendon rupture.
authors: Department of Orthopaedic and Trauma Surgery, Campus Bio-Medico University, Trigoria Rome, Italy.
authors: Umile Giuseppe
authors: UG
authors: Longo
authors: Vito
authors: V
authors: Fazio
authors: Maria Luana
authors: ML
authors: Poeta
authors: Carla
authors: C
authors: Rabitti
authors: Francesco
authors: F
authors: Franceschi
authors: Nicola
authors: N
authors: Maffulli
authors: Vincenzo
authors: V
authors: Denaro
mesh_terms: D024062:Collagen Type V / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D052097:Quadriceps Muscle / Q000293:injuries*; D012008:Recurrence; D012421:Rupture / Q000235:genetics; D013708:Tendon Injuries / Q000235:genetics* / Q000601:surgery; D016896:Treatment Outcome
chemical_list: C530725:COL5A1 protein, human; D024062:Collagen Type V