title: The BstUI and DpnII Variants of the COL5A1 Gene Are Associated With Tennis Elbow.
abstract: BACKGROUND
  Tennis elbow entails pain and tenderness over the lateral epicondyle. The exact cause of the condition is not fully understood. Type V collagen is a minor fibrillar collagen that intercalates with type I collagen and forms collagen fibrils. It is encoded by the COL5A1 gene. Sequence variants within COL5A1 3'-UTR have been implicated in musculoskeletal diseases.
  
  
  OBJECTIVE
  To determine whether rs12722 (BstUI C414T polymorphism) and rs13946 (DpnII C230T polymorphism) of the COL5A1 gene are associated with an increased risk of tennis elbow.
  
  
  METHODS
  Cohort study; Level of evidence, 3.
  
  
  METHODS
  A total of 152 patients with tennis elbow and 195 healthy participants were enrolled in this study. The rs12722 (BstUI C414T) and rs13946 (DpnII C230T) polymorphisms were investigated with the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.
  
  
  RESULTS
  There was a significant difference in both BstUI and DpnII genotype frequencies between patients with tennis elbow and healthy participants. The A2 allele of BstUI and the B1 allele of DpnII were significantly underrepresented in the patient group.
  
  
  CONCLUSIONS
  Individuals with the BstUI A1 allele and DpnII B2 allele of the COL5A1 gene have a high likelihood of developing symptoms of the tennis elbow. This is the first study reporting that rs12722 and rs13946 SNPs (single nucleotide polymorphisms) are genetic risk factors for tennis elbow.
authors.affiliation: Department of Medical Biology, Balikesir University Medical Faculty, Balikesir, Turkey.
authors.forename: Julide
authors.initials: J
authors.lastname: Altinisik
authors.affiliation: Department of Orthopaedics and Traumatology, Balikesir University Medical Faculty, Balikesir, Turkey drgokhanmeric@gmail.com.
authors.forename: Gokhan
authors.initials: G
authors.lastname: Meric
authors.affiliation: Department of Orthopaedics and Traumatology, Dokuz Eylul University Medical Faculty, İzmir, Turkey.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Erduran
authors.affiliation: Department of Medical Biology, Gaziosmanpasa University Medical Faculty, Tokat, Turkey.
authors.forename: Omer
authors.initials: O
authors.lastname: Ates
authors.affiliation: Department of Orthopaedics and Traumatology, Balikesir University Medical Faculty, Balikesir, Turkey.
authors.forename: Ali Engin
authors.initials: AE
authors.lastname: Ulusal
authors.affiliation: Department of Orthopaedics and Traumatology, Balikesir University Medical Faculty, Balikesir, Turkey.
authors.forename: Devrim
authors.initials: D
authors.lastname: Akseki
mesh_terms: D000328:Adult; D015331:Cohort Studies; D024042:Collagen Type I / Q000378:metabolism*; D024062:Collagen Type V / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D013716:Tennis Elbow / Q000235:genetics*; D055815:Young Adult
chemical_list: C530725:COL5A1 protein, human; D024042:Collagen Type I; D024062:Collagen Type V
keywords: BstUI polymorphism; COL5A1 gene; DpnII polymorphism; tennis elbow