{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:08:14Z","timestamp":1790690894668,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:00:00Z","timestamp":1789948800000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal Orthopaedic Research"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Several direct\u2010to\u2010consumer genetic tests claim to predict susceptibility to anterior cruciate ligament (ACL) rupture. Although not independently replicated, polymorphisms identified in a genome\u2010wide association study\u2014rs144051132 (T\u2009&gt;\u2009A), rs186727643 (C\u2009&gt;\u2009T), and\/or rs188099931 (A\u2009&gt;\u2009G)\u2014have been incorporated into commercial tests to estimate cruciate ligament injury risk. This study aimed to evaluate whether these polymorphisms are associated with ACL rupture across multiple populations. We genotyped 906 clinically diagnosed ACL rupture cases, including 498 non\u2010contact mechanism of injury ruptures (ACL\u2010NC), and 679 controls (CON) from four European ancestry cohorts and a South African mixed\u2010ancestry cohort. No significant differences were observed in genotype distributions between cases and controls in either the European cohorts (rs144051132 CON: 99.3% TT, 0.7% TA; ACL: 99.0% TT, 1.0% TA; rs186727643 CON: 100.0% CC; ACL: 99.9% CC, 0.1% CT or rs188099931 CON: 99.8% AA, 0.2% AG; ACL: 99.4% AA, 0.6% AG) or the mixed\u2010ancestry cohort (rs144051132 CON: 99.0% TT, 1.0% TA; ACL: 97.9% TT, 2.1% TA; rs186727643 CON: 97.1% CC, 2.9% CT; ACL: 94.8% CC, 5.2% CT or rs188099931 CON: 99.0% AA, 1.0% AG; ACL: 100.0% AA). These polymorphisms were not associated with ACL rupture in the studied populations. The study was adequately powered to detect the larger effects previously reported but underpowered to detect the smaller effect reported for rs188099931. These results, as well as the rarity of the minor alleles, do not support the clinical validity of these polymorphisms as markers of ACL rupture risk.<\/jats:p>","DOI":"10.1002\/jor.70282","type":"journal-article","created":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T11:08:20Z","timestamp":1789988900000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Investigating the Association of Genetic Markers, Previously Identified by Genome\u2010Wide Association Studies, With ACL Rupture in Multiple Cohorts"],"prefix":"10.1002","volume":"44","author":[{"given":"Caryn","family":"Phipson","sequence":"first","affiliation":[{"name":"Health through Physical Activity, Lifestyle and Sport Research Center (HPALS), Division of Physiological Sciences, Department of Human Biology University of Cape Town Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9979-117X","authenticated-orcid":false,"given":"Mary\u2010Jessica N.","family":"Laguette","sequence":"additional","affiliation":[{"name":"Health through Physical Activity, Lifestyle and Sport Research Center (HPALS), Division of Physiological Sciences, Department of Human Biology University of Cape Town Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawe\u0142","family":"Cieszczyk","sequence":"additional","affiliation":[{"name":"Faculty of Physical Education Gda\u0144sk University of Physical Education and Sport Gda\u0144sk Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krzysztof","family":"Ficek","sequence":"additional","affiliation":[{"name":"Faculty of Physiotherapy Jerzy Kukuczka Academy of Physical Education in Katowice Katowice Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0366-4609","authenticated-orcid":false,"given":"Charlotte K","family":"H\u00e4ger","sequence":"additional","affiliation":[{"name":"Department of Community Medicine and Rehabilitation Ume\u00e5 University Ume\u00e5 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva\u2010Lena","family":"Stattin","sequence":"additional","affiliation":[{"name":"Department of Immunology Genetics and Pathology, Uppsala University Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8818-3408","authenticated-orcid":false,"given":"Kjell G","family":"Nilsson","sequence":"additional","affiliation":[{"name":"Department of Diagnostics and Intervention Ume\u00e5 University Ume\u00e5 Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5737-4519","authenticated-orcid":false,"given":"Julian A","family":"Feller","sequence":"additional","affiliation":[{"name":"OrthoSport Victoria Research Unit Epworth Healthcare Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oren","family":"Tirosh","sequence":"additional","affiliation":[{"name":"RMIT University Melbourne Australia"}],"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":"Health through Physical Activity, Lifestyle and Sport Research Center (HPALS), Division of Physiological Sciences, Department of Human Biology University of Cape Town Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2564-0480","authenticated-orcid":false,"given":"Malcolm","family":"Collins","sequence":"additional","affiliation":[{"name":"Health through Physical Activity, Lifestyle and Sport Research Center (HPALS), Division of Physiological Sciences, Department of Human Biology University of Cape Town Cape Town South 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