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Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations
  1. A V September1,
  2. J Cook3,
  3. C J Handley4,
  4. L van der Merwe5,6,
  5. M P Schwellnus1,
  6. M Collins1,2
  1. 1
    MRC/UCT Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Newlands, South Africa
  2. 2
    MRC/UCT Research Unit for Exercise Science and Sports Medicine, South African Medical Research Council, Cape Town, South Africa
  3. 3
    Centre for Physical Activity and Nutrition Research, School of Exercise and Nutrition Sciences, Deakin University, Melbourne, Australia
  4. 4
    School of Human Biosciences and the Musculoskeletal Research Centre, La Trobe University, Melbourne, Victoria, Australia
  5. 5
    Biostatistics Unit, South African Medical Research Council, Cape Town, South Africa
  6. 6
    Department of Statistics, University of Western Cape, Cape Town, South Africa
  1. Professor M Collins, MRC/UCT Research Unit for Exercise Science and Sports Medicine, University of Cape Town, PO Box 115, Newlands 7725, South Africa; malcolm.collins{at}


Objectives: 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.

Conclusion: 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.

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  • Competing interests: None.

  • Funding: This study was supported in part by funds from the National Research Foundation (NRF) of South African (grant no FA2005021700015), University of Cape Town and the South African Medical Research Council. AVS was supported by the postdoctoral innovation award from the NRF.

  • Ethics approval: The study was approved by the Research Ethics Committee of the Faculty of Health Sciences within the University of Cape Town, South Africa (reference numbers 289/2004 and 086/2005) and the Human Ethics Committee of La Trobe University, Melbourne, Australia.

  • Patient consent: Obtained.

  • ▸ Supplemental table 1A is published online only at