{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T01:29:04Z","timestamp":1788571744231,"version":"build-2803163510"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,1,24]],"date-time":"2013-01-24T00:00:00Z","timestamp":1358985600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:italic>COL5A1<\/jats:italic> encodes for the \u03b11 chain of type V collagen, an important regulator of fibril assembly in tendons, ligaments and other connective tissues. A polymorphism (rs12722) within the functional <jats:italic>COL5A1<\/jats:italic> 3\u2032\u2010untranslated region (UTR) has been shown to associate with chronic Achilles tendinopathy and other exercise\u2010related phenotypes. The <jats:italic>COL5A1<\/jats:italic> 3\u2032\u2010UTR contains several putative cis\u2010acting elements including a functional Hsa\u2010miR\u2010608 binding site. The aim of this study was to determine whether previously uncharacterized polymorphisms within a functional region of the <jats:italic>COL5A1<\/jats:italic> 3\u2032\u2010UTR or the <jats:italic>MIR608<\/jats:italic> gene are associated with chronic Achilles tendinopathy. The effect of these <jats:italic>COL5A1<\/jats:italic> 3\u2032\u2010UTR polymorphisms on the 3\u2032\u2010UTR predicted mRNA secondary structure was also investigated. One hundred and sixty Caucasian chronic Achilles tendinopathic and 342 control participants were genotyped for the <jats:italic>COL5A1<\/jats:italic> 3\u2032\u2010UTR markers rs71746744, rs16399 and rs1134170, as well as marker rs4919510 within <jats:italic>MIR608<\/jats:italic>. All four genetic markers were independently associated with chronic Achilles tendinopathy. The <jats:italic>COL5A1<\/jats:italic> polymorphisms appear to alter the predicted secondary structure of the 3\u2032\u2010UTR. We propose that the secondary structure plays a role in the regulation of the <jats:italic>COL5A1<\/jats:italic> mRNA stability and by implication type V collagen production.<\/jats:p>","DOI":"10.1111\/ahg.12013","type":"journal-article","created":{"date-parts":[[2013,1,24]],"date-time":"2013-01-24T17:34:12Z","timestamp":1359048852000},"page":"204-214","source":"Crossref","is-referenced-by-count":73,"title":["Polymorphisms within the <i>COL5A1<\/i> 3\u2032\u2010UTR That Alters mRNA Structure and the <i>MIR608<\/i> Gene are Associated with Achilles Tendinopathy"],"prefix":"10.1111","volume":"77","author":[{"given":"Yoonus","family":"Abrahams","sequence":"first","affiliation":[{"name":"UCT\/MRC Research Unit for Exercise Science and Sports Medicine  Newlands South Africa"},{"name":"Department of Human Biology University of Cape Town  Cape Town South 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