Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia
Copyright policy )Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia
BackgroundType XI collagen, which is expressed in developing tendons and is encoded by theCOL11A1,COL11A2andCOL2A1genes, 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 withCOL5A1to modulate the risk of AT.Methods184 participants diagnosed with chronic AT (TEN) and 338 appropriately matched asymptomatic controls (CON) were genotyped for the three polymorphisms.ResultsAlthough 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 functionalCOL5A1rs71746744 (-/AGGG) polymorphism were also significantly over-represented (p<0.001) in the TEN (25.2%) compared with the CON (9.1%) group.DiscussionThe genes encoding structural and functionally related type XI (COL11A1andCOL11A2) 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.
- La Trobe University Australia
- University of Pretoria South Africa
- Monash University Australia
- South African Medical Research Council South Africa
- University of Cape Town South Africa
Adult, Collagen Type XII, Male, Polymorphism, Genetic, Genotype, Australia, 610, Epistasis, Genetic, Genetics/sex testing, Collagen Type XI, Achilles Tendon, Tendons, Achilles tendon, South Africa, Gene Frequency, Haplotypes, Case-Control Studies, Chronic Disease, Tendinopathy, Humans, Female, Sporting injuries, Collagen Type V
Adult, Collagen Type XII, Male, Polymorphism, Genetic, Genotype, Australia, 610, Epistasis, Genetic, Genetics/sex testing, Collagen Type XI, Achilles Tendon, Tendons, Achilles tendon, South Africa, Gene Frequency, Haplotypes, Case-Control Studies, Chronic Disease, Tendinopathy, Humans, Female, Sporting injuries, Collagen Type V
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