Association of type XI caollagen genes with chronic achilles tendinopathy in independent populations from South Africa and Australia'

Melanie Hay, Jon Patricios, Robert Collins, Andy Branfield, Jillianne Leigh Cook, Christopher J Handley, Alison V September, Michael Posthumus, Malcolm Collins

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26 Citations (Scopus)


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
Original languageEnglish
Pages (from-to)569 - 574
Number of pages6
JournalBritish Journal of Sports Medicine
Issue number9
Publication statusPublished - 2013

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