{"entity": "publication", "iuid": "6ad3f5d6a646441e96d47ed0b3285540", "timestamp": "2026-08-22T06:57:25.115Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6ad3f5d6a646441e96d47ed0b3285540.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6ad3f5d6a646441e96d47ed0b3285540"}}, "title": "Investigation of multiple populations highlight VEGFA polymorphisms to modulate anterior cruciate ligament injury.", "authors": [{"family": "Feldmann", "given": "Daneil C", "initials": "DC"}, {"family": "Rahim", "given": "Masouda", "initials": "M"}, {"family": "Suijkerbuijk", "given": "Mathijs A M", "initials": "MAM", "orcid": "0000-0002-2732-9856", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0ec76da0a3354011902c9273de8db6eb.json"}}, {"family": "Laguette", "given": "Mary-Jessica N", "initials": "MN", "orcid": "0000-0001-9979-117X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/463cb906c7b747b994e3bfac140977c3.json"}}, {"family": "Cieszczyk", "given": "Pawe\u0142", "initials": "P"}, {"family": "Ficek", "given": "Krzysztof", "initials": "K"}, {"family": "Huminska-Lisowska", "given": "Kinga", "initials": "K"}, {"family": "H\u00e4ger", "given": "Charlotte K", "initials": "CK"}, {"family": "Stattin", "given": "Evalena", "initials": "E"}, {"family": "Nilsson", "given": "Kjell G", "initials": "KG"}, {"family": "Alvarez-Rumero", "given": "Javier", "initials": "J"}, {"family": "Eynon", "given": "Nir", "initials": "N"}, {"family": "Feller", "given": "Julian", "initials": "J"}, {"family": "Tirosh", "given": "Oren", "initials": "O"}, {"family": "Posthumus", "given": "Michael", "initials": "M"}, {"family": "Chimusa", "given": "Emile R", "initials": "ER"}, {"family": "Collins", "given": "Malcolm", "initials": "M"}, {"family": "September", "given": "Alison V", "initials": "AV", "orcid": "0000-0003-0950-286X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/72eeaa2fbce8439383b169a03279e5b3.json"}}], "type": "journal article", "published": "2022-07-00", "journal": {"title": "J Orthop Res", "issn": "1554-527X", "volume": "40", "issue": "7", "pages": "1604-1612", "issn-l": null}, "abstract": "Polymorphisms in VEGFA and KDR encoding proteins have been associated with anterior cruciate ligament (ACL) injury risk. We leveraged a collective sample from Sweden, Poland, and Australia to investigate the association of functional polymorphisms in VEGFA and KDR with susceptibility to ACL injury risk. Using a case-control genetic association approach, polymorphisms in VEGFA and KDR were genotyped and haplotypes inferred from 765 controls, and 912 cases clinically diagnosed with ACL rupture. For VEGFA, there was a significant overrepresentation of the rs2010963 CC genotype (p = 0.0001, false discovery rate [FDR]: p = 0.001, odds ratio [OR]: 2.16, 95% confidence interval [CI]: 1.47-3.19) in the combined ACL group (18%) compared to the combined control group (11%). The VEGFA (rs699947 C/A, rs1570360 G/A, rs2010963 G/C) A-A-G haplotype was significantly (p = 0.010, OR: 0.85, 95% CI: 0.69-1.05) underrepresented in the combined ACL group (23%) compared to the combined control group (28%). In addition, the A-G-G construct was significantly (p = 0.036, OR: 0.81, 95% CI: 0.64-1.02) underrepresented in the combined ACL group (12%) compared to the combined CON group (16%). Our findings support the association of the VEGFA rs2010963 CC genotype with increased risk and (ii) the VEGFA A-A-G haplotype with a reduced risk, and are in alignment with the a priori hypothesis. Collectively identifying a genetic interval within VEGFA to be implicated in ACL risk modulation and highlight further the importance of vascular regulation in ligament biology.", "doi": "10.1002/jor.25192", "pmid": "34664319", "labels": [], "xrefs": [], "notes": [], "created": "2026-08-21T11:03:09.661Z", "modified": "2026-08-21T11:03:09.838Z"}