Collins, Malcolm

El Khoury, Louis

Posthumus, Michael

Raleigh, Stuart M

Ribbans, Bill

English

University of Northampton's Research Explorer

REFERENCESFeddermann et al. BJSM 48(7):513–22, 2014Wang HK. Scand JMSS. 22(6):e147–155, 2012Van Schie et al. BJSM 44(16):1153–9, 2010De Vos et al. J Sport Rehabil. 21(1):34–43, 2012Rosengarten et al. BJSM Apr 15 2014Bryant et al. J Appl Physiol 105(4):1035–43, 2008Hobara et al. J Biomech 15;45(16):2750–4, 2012Hansen et al. J Appl Physiol 114:998–1008, 2013Stenroth et al. J Appl Physiol 113:1537–44, 201282 THE COL5A1 GENE AND RISK OF ACHILLES TENDONPATHOLOGY IN A BRITISH COHORT1Louis El Khoury, 2Michael Posthumus, 2Malcolm Collins, 1William Ribbans, 1Stuart Raleigh.1The Division of Health and Life Sciences, University of Northampton, Northampton, UK;2Department of Human Biology, UCT/ MRC Research Unit for Exercise Science and SportsMedicine, Faculty of Health Sciences, University of Cape Town10.1136/bjsports-2014-094114.81Background Achilles tendon pathologies (ATPs) such as Achillestendinopathy and Achilles tendon ruptures have been identifiedas debilitating conditions resulting from either acute or repetitiveoveruse loading mechanisms. ATP is a multifactorial conditionfor which several genetic risk factors have been identified. Nota-bly, the COL5A1 rs12722 genetic variant has been associatedwith risk of Achilles tendinopathy in South African and Austral-ian populations.1,2 Further, the COL5A1 rs71746744, rs16399and rs1134170 variants were also associated with Achilles tendin-opathy within combined South African and Australian popula-tions.3 The rs71746744 within the 3’-UTR of the COL5A1 genehas been shown to be functional.4Objective The objective if this study was to investigate if theCOL5A1 rs12722 and rs71746744 variants are associated withATP in a British (UK) cohort.Methods One hundred and thirty six (52 females and 84 males)participants diagnosed with Achilles tendon pathology (ATPgroup) and 131 (49 females and 82 males) asymptomatic healthycontrols (CON group), were recruited for this case-controlgenetic association study. ATP, which includes non-insertional andinsertional Achilles tendinopathy, as well as Achilles tendon rup-ture were diagnosed using MRI scans and ultra-sound imaging.This study was approved by the Research Ethics committees ofthe University of Northampton and the University of Cape Townand all participants gave written informed consent. SNP genotyp-ing was performed using a fluorescence-based custom-made Taq-Man (rs71746744) and restriction fragment lengthpolymorphism assays (rs12722) from DNA extracted from salivasamples. The significance of all statistical testing was accepted atp < 0.05.Results No significant genotype frequency distributions weredetected in the UK cohort between the CON and ATP groupsfor the rs12722 (p = 0.658) and rs71746744 (p = 0.319) var-iants. However, when only the male participants were investi-gated, the TT genotype of the rs12722 (p = 0.015) and the INS/INS (p = 0.031) of the rs71746744 variant was significantlyover-represented within the ATP groups.Conclusion This study showed that both COL5A1 rs12722 andrs71746744 variants were significantly associated with risk ofATP within males. It is unknown why this association was notfound in the female participants investigated.REFERENCES1 Mokone GG, et al. Scandinavian Journal of Medicine & Science in Sports.16(1):19–262 September AV, et al. British Journal of Sports Medicine. 43(5):357–3653 Abrahams Y, et al. Annals of Human Genetics. 77(3):204–2144 Laguette N, et al. Matrix Biology. 30(5–6):338–345Abstract 82 Figure 183 INVESTIGATION OF ANGIOGENESIS ASSOCIATED GENESWITH ACHILLES TENDINOPATHYMasouda Rahim, Michael Posthumus, Malcolm Collins, Alison V September. UCT/MRCResearch Unit for Exercise Science and Sports Medicine, Department of Human Biology,Faculty of Health Sciences, University of Cape Town, South Africa10.1136/bjsports-2014-094114.82Introduction Genetic factors have been implicated with risk ofAchilles tendinopathy. Angiogenesis plays an important role inextracellular matrix (ECM) remodelling following mechanicalloading. It is proposed that dysregulation of this process mayalter the mechanical properties of the tissue thereby increasingthe risk of injury. Furthermore, increased levels of angiogeniccytokines and growth factors have been reported in injuredAchilles tendons [Pufe, 2001] and after cyclic stretching of ten-don fibroblasts [Petersen, 2004]. Vascular endothelial growth fac-tor (VEGF) is a potent pro-angiogenic factor and the biologicaleffects of VEGF are mediated through its receptor kinase insert-domain receptor (KDR). Recently, polymorphisms within theVEGFA and KDR genes were found to be associated with risk ofanterior cruciate ligament (ACL) ruptures [Rahim, 2014]. Thus,the aim of this study was to investigate if genes encoding proteinsinvolved in angiogenesis-associated signalling are associated withrisk of Achilles tendon injuries.Methods A genetic-association study was conducted on 120 controlparticipants (CON), 91 participants with Achilles tendinopathy(TEN) and 44 participants with partial or complete ruptures of theAchilles tendon (RUP). All participants were genotyped for the func-tional VEGFA rs699947, VEGFA rs1570360, VEGFA rs2010963,KDR rs2071559 and KDR rs1870377 polymorphisms. Haplotypeswere also inferred for VEGFA and KDR. Statistical analyses were con-ducted to determine any significant differences (p < 0.05) betweenthe groups (CON vs. TEN and CON vs. RUP).Results No independent significant differences were observed inthe genotype frequency distributions of any of the polymor-phisms between the CON vs. TEN groups. However, there was atrend towards significance (p = 0.053) in the genotype frequen-cies for the VEGFA rs699947 polymorphism when comparingAbstractsA54 Br J Sports Med 2014;48(Suppl 2):A1–A76group.bmj.com on December 5, 2014 - Published by http://bjsm.bmj.com/Downloaded from Pathology in a British Cohort Gene and Risk of Achilles TendonCOL5A1The  82RaleighLouis El Khoury, Michael Posthumus, Malcolm Collins, William Ribbans and Stuartdoi: 10.1136/bjsports-2014-094114.812014 48: A54 Br J Sports Med  http://bjsm.bmj.com/content/48/Suppl_2/A54.1Updated information and services can be found at: serviceEmail alertingright corner of the online article. Receive free email alerts when new articles cite this article. Sign up in the box at the topNoteshttp://group.bmj.com/group/rights-licensing/permissionsTo request permissions go to:http://journals.bmj.com/cgi/reprintformTo order reprints go to:http://group.bmj.com/subscribe/To subscribe to BMJ go to:group.bmj.com on December 5, 2014 - Published by http://bjsm.bmj.com/Downloaded from 

The COL5A1 gene and risk of Achilles tendon pathology in a British cohort.

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The COL5A1 gene and risk of Achilles tendon pathology in a British cohort.

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