title: Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations.
abstract: OBJECTIVE
  A COL5A1 gene variant was shown to be associated with chronic Achilles tendinopathy in a South African population. The aim of this case-control genetic association study was to investigate the BstUI and DpnII restriction fragment length polymorphisms (RFLP) in a second population from Australia and to identify a predisposing haplotype for Achilles tendinopathy in both populations.
  
  
  METHODS
  85 Australian and 93 South African patients with tendinopathy, as well as 210 Australian and 132 white South African control subjects were genotyped for the BstUI (rs12722) and DpnII (rs13946) RFLP, as well as markers rs10858286, rs3196378, rs11103544, rs4504708 and rs3128575.
  
  
  RESULTS
  The BstUI RFLP (p<0.001) and marker rs3196378 (p = 0.016) were associated with chronic Achilles tendinopathy in Australian subjects. Individuals within both populations with a CC genotype for the BstUI RFLP had a significantly decreased risk of developing tendinopathy versus any other genotypes (Australian odds ratio 0.42, 95% CI 0.20 to 0.86, p = 0.017). The TC inferred haplotype (rs12722, rs3196378) was found to be overrepresented (global p = 0.008) in the South African tendinopathy group compared with all other haplotypes.
  
  
  CONCLUSIONS
  The BstUI RFLP is associated with chronic Achilles tendinopathy in a second population and a region within the COL5A1 3' untranslated region may predispose individuals to an increased risk of developing chronic Achilles tendinopathy.
authors.affiliation: MRC/UCT Research Unit for Exercise Science and Sports Medicine, University of Cape Town, Newlands 7725, South Africa.
authors.forename: A V
authors.initials: AV
authors.lastname: September
authors.forename: J
authors.initials: J
authors.lastname: Cook
authors.forename: C J
authors.initials: CJ
authors.lastname: Handley
authors.forename: L
authors.initials: L
authors.lastname: van der Merwe
authors.forename: M P
authors.initials: MP
authors.lastname: Schwellnus
authors.forename: M
authors.initials: M
authors.lastname: Collins
mesh_terms: D000125:Achilles Tendon; D000328:Adult; D001315:Australia / Q000208:ethnology; D001483:Base Sequence; D002908:Chronic Disease; D024062:Collagen Type V / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D013019:South Africa / Q000208:ethnology; D052256:Tendinopathy / Q000208:ethnology / Q000235:genetics*
chemical_list: C530725:COL5A1 protein, human; D024062:Collagen Type V