Article Text

other Versions

PDF
Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia
  1. Melanie Hay1,
  2. Jon Patricios2,3,
  3. Robert Collins3,4,
  4. Andy Branfield4,
  5. Jill Cook5,
  6. Christopher J Handley6,
  7. Alison V September1,
  8. Michael Posthumus1,
  9. Malcolm Collins7,1
  1. 1MRC/UCT Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, Cape Town, South Africa
  2. 2Morningside Sports Medicine, Johannesburg, South Africa
  3. 3Section of Sports Medicine, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa
  4. 4The Centre for Sports Medicine & Orthopaedics, Johannesburg, South Africa
  5. 5Department of Physiotherapy, Monash University, Melbourne, Victoria, Australia
  6. 6School of Public Health and Human Biosciences, La Trobe University, Melbourne, Victoria, Australia
  7. 7MRC/UCT Research Unit for Exercise Science and Sports Medicine, South African Medical Research Council, Cape Town, South Africa
  1. Correspondence to Professor Malcolm Collins, MRC/UCT Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town, PO Box 115, Newlands 7725, South Africa; malcolm.collins{at}uct.ac.za

Abstract

Background Type XI collagen, which is expressed in developing tendons and is encoded by the COL11A1, COL11A2 and COL2A1 genes, shares structural and functional homology with type V collagen, which plays an important role in collagen fibril assembly. We investigated the association of these three polymorphisms with Achilles tendinopathy (AT) and whether these polymorphisms interact with COL5A1 to modulate the risk of AT.

Methods 184 participants diagnosed with chronic AT (TEN) and 338 appropriately matched asymptomatic controls (CON) were genotyped for the three polymorphisms.

Results Although there were no independent associations with AT, the TCT pseudohaplotype constructed from rs3753841 (T/C), rs1676486 (C/T) and rs1799907 (T/A) was significantly over-represented (p=0.006) in the TEN (25.9%) compared with the CON (17.1%) group. The TCT(AGGG) pseudohaplotypes constructed using these type XI collagen polymorphisms and the functional COL5A1 rs71746744 (-/AGGG) polymorphism were also significantly over-represented (p<0.001) in the TEN (25.2%) compared with the CON (9.1%) group.

Discussion The genes encoding structural and functionally related type XI (COL11A1 and COL11A2) and type V (COL5A1) collagens interact with one another to collectively modulate the risk for AT. Although there are no immediate clinical applications, the results of this study provide additional evidence that interindividual variations in collagen fibril assembly might be an important molecular mechanism in the aetiology of chronic AT.

  • Sporting injuries
  • Tendons
  • Achilles tendon
  • Genetics/sex testing

Statistics from Altmetric.com

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.