{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T06:31:52Z","timestamp":1790404312504,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T00:00:00Z","timestamp":1581379200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001321","name":"National Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001321","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007112","name":"University of Cape Town","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007112","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010015","name":"University of Northampton","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010015","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal Orthopaedic Research"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Studies have reported the association of the <jats:italic>COL1A1<\/jats:italic> Sp1 binding site variant (rs1800012) with the risk of acute musculoskeletal soft tissue injuries. Interaction with the <jats:italic>COL1A1<\/jats:italic> promoter variant (rs1107946) has also been proposed to modulate acute injury risk. Conversely, neither of these loci have been associated with chronic musculoskeletal soft tissue phenotypes. Therefore, the primary aim of this study involved characterizing these variants in a cohort of participants with chronic Achilles tendinopathy. Second, this study aimed to support the contribution of the rs1107946 and rs1800012 variants to the profile predisposing for acute musculoskeletal soft tissue injuries including Achilles tendon and anterior cruciate ligament (ACL) ruptures. A hypothesis\u2010driven association study was conducted. In total, 295 control participants, 210 participants with clinically diagnosed Achilles tendinopathy, and 72 participants with Achilles tendon ruptures recruited independently from South Africa and the United Kingdom were genotyped for the prioritized variants. In addition, a cohort including 232 control participants and 234 participants with surgically diagnosed ACL ruptures was also analyzed. Although no associations were observed in the recruited cohorts, the rare rs1800012 TT genotype was associated with decreased ACL injury risk when the results from the current study were combined with that from previously published studies (<jats:italic>P<\/jats:italic>\u2009=\u2009.040, OR: 2.8, 95% CI: 1.0\u201011.0). In addition, the G\u2010T (rs1107946\u2010rs1800012) inferred haplotype was associated with decreased risk for Achilles tendon ruptures. These results support previous observations and reiterate the heterogeneity of musculoskeletal phenlotypes whereby certain markers may be common to the predisposing profiles while others may be unique.<\/jats:p>","DOI":"10.1002\/jor.24621","type":"journal-article","created":{"date-parts":[[2020,2,4]],"date-time":"2020-02-04T11:12:48Z","timestamp":1580814768000},"page":"2290-2298","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Functional COL1A1 variants are associated with the risk of acute musculoskeletal soft tissue injuries"],"prefix":"10.1002","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9771-3044","authenticated-orcid":false,"given":"Andrea","family":"Gibbon","sequence":"first","affiliation":[{"name":"Division of Exercise Science and Sports Medicine, Department of Human Biology, Health Through Physical Activity, Lifestyle and Sport Research Centre, Faculty of Health Sciences University of Cape Town Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart M.","family":"Raleigh","sequence":"additional","affiliation":[{"name":"Centre for Sport, Exercise and Life Science, School of Life Science Coventry University Coventry UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William J.","family":"Ribbans","sequence":"additional","affiliation":[{"name":"Centre for Physical Activity and Chronic Disease, Institute of Health and Wellbeing University of Northampton Northampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Posthumus","sequence":"additional","affiliation":[{"name":"Division of Exercise Science and Sports Medicine, Department of Human Biology, Health Through Physical Activity, Lifestyle and Sport Research Centre, Faculty of Health Sciences University of Cape Town Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malcolm","family":"Collins","sequence":"additional","affiliation":[{"name":"Division of Exercise Science and Sports Medicine, Department of Human Biology, Health Through Physical Activity, Lifestyle and Sport Research Centre, Faculty of Health Sciences University of Cape Town Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0950-286X","authenticated-orcid":false,"given":"Alison V.","family":"September","sequence":"additional","affiliation":[{"name":"Division of Exercise Science and Sports Medicine, Department of Human Biology, Health Through Physical Activity, Lifestyle and Sport Research Centre, Faculty of Health Sciences University of Cape Town Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001504-200503000-00013"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1249\/MSS.0b013e31825a36c6"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fcl.2005.01.013"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjsm.2008.048934"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjsports-2011-090342"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jor.1100010305"},{"key":"e_1_2_8_8_1","first-page":"638","article-title":"Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen","volume":"55","author":"Willing MC","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_9_1","first-page":"400","article-title":"Characterization of a COL1A1 splicing defect in a case of Ehlers\u2010Danlos syndrome type VII: further evidence of molecular homogeneity","volume":"49","author":"D'alessio M","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/0363546508320805"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjsm.2008.056150"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsams.2012.10.004"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.5604\/20831862.1029823"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.5604\/12321966.1203897"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjsm.2008.056184"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsams.2007.12.006"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.12.014"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2474-14-221"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1123\/jsr.2015-0151"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.32098\/mltj.01.2018.03"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1177\/0363546518808467"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.15271"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/0363546504271986"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0838.2005.00439.x"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.06.010"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjsports-2013-093201"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/0363546509338266"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.19.5444"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2009.02125.x"},{"key":"e_1_2_8_30_1","volume-title":"R: A Language and Environment for Statistical Computing","author":"R Core Team","year":"2013"},{"key":"e_1_2_8_31_1","unstructured":"GonzalezR ArmengolL GuinoE et al.2014.SNP\u2010based whole genome association studies. Version 1.9\u20102."},{"key":"e_1_2_8_32_1","unstructured":"WarnesG GorjancG LeischF ManM2013.Population genetics. Version 1.3.8.1."},{"key":"e_1_2_8_33_1","unstructured":"SinnwellJ SchaidD2015.Statistical analysis of haplotypes with traits and covariates when linkage is ambiguous. Version 1.7.1."},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1123\/ijspp.2019-0431"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI10347"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp205"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2004.12.012"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0205860"}],"container-title":["Journal of Orthopaedic Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjor.24621","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jor.24621","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jor.24621","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jor.24621","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T13:50:20Z","timestamp":1693921820000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jor.24621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,11]]},"references-count":37,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1002\/jor.24621"],"URL":"https:\/\/doi.org\/10.1002\/jor.24621","archive":["Portico"],"relation":{},"ISSN":["0736-0266","1554-527X"],"issn-type":[{"value":"0736-0266","type":"print"},{"value":"1554-527X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,11]]},"assertion":[{"value":"2019-09-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}