{"entity": "journal", "iuid": "736301706a5d40c9b6e078c35570c694", "timestamp": "2026-08-22T06:52:03.231Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/journal/J%20Orthop%20Res.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/journal/J%20Orthop%20Res"}}, "title": "J Orthop Res", "issn": "1554-527X", "issn-l": null, "publications_count": 2, "publications": [{"entity": "publication", "iuid": "6ad3f5d6a646441e96d47ed0b3285540", "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"}, {"entity": "publication", "iuid": "f58a5db422204ab2ad923444dacea1f4", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/f58a5db422204ab2ad923444dacea1f4.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/f58a5db422204ab2ad923444dacea1f4"}}, "title": "The Apoptosis Pathway and CASP8 Variants Conferring Risk for Acute and Overuse Musculoskeletal Injuries.", "authors": [{"family": "Seale", "given": "Kirsten", "initials": "K", "orcid": "0000-0003-3048-7983", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/372378ac75bc476d814ff36f279fa049.json"}}, {"family": "Burger", "given": "Marilize", "initials": "M"}, {"family": "Posthumus", "given": "Michael", "initials": "M"}, {"family": "H\u00e4ger", "given": "Charlotte K", "initials": "CK"}, {"family": "Stattin", "given": "Evalena", "initials": "E"}, {"family": "Nilsson", "given": "Kjell G", "initials": "KG"}, {"family": "Collins", "given": "Malcolm", "initials": "M"}, {"family": "September", "given": "Alison V", "initials": "AV"}], "type": "journal article", "published": "2020-03-00", "journal": {"title": "J Orthop Res", "issn": "1554-527X", "volume": "38", "issue": "3", "pages": "680-688", "issn-l": null}, "abstract": "Rotator cuff tendinopathy (RCT), anterior cruciate ligament (ACL) ruptures, and carpal tunnel syndrome (CTS), are examples of chronic (RCT and CTS) and acute (ACL ruptures) musculoskeletal soft tissue injuries. These injuries are multifactorial in nature, with several identified intrinsic and extrinsic risk factors. Previous studies have implicated specific sequence variants within genes encoding structural and regulatory components of the extracellular matrix of tendons and/ligaments to predispose individuals to these injuries. An example, includes the association of sequence variants within the apoptotic regulatory gene, caspase-8 (CASP8) with other musculoskeletal injury phenotypes, such as Achilles tendinopathy. The primary aim of this study was, therefore, to investigate previously implicated DNA sequence variants within CASP8: rs3834129 (ins/del) and rs1045485 (G/C), and the rs13113 (T/A) identified using a whole exome sequencing approach, with risk of musculoskeletal injury phenotypes (RCT, ACL ruptures, and CTS) in three independent studies. In addition, the aim was to implicate a CASP8 genomic interval in the modulation of risk of RCT, ACL ruptures, or CTS. It was found that the AA genotype of CASP8 rs13113 (T/A) was independently associated with increased risk for CTS. In addition, it was found that the del-C haplotype (rs3834129-rs1045485) was significantly associated with non-contact ACL ruptures, which is in alignment with previous research findings. Collectively, the results of this study implicate the apoptosis pathway as biologically significant in the underlying pathogenesis of musculoskeletal injury phenotypes. These findings should be repeated in larger sample cohorts and across different populations. \u00a9 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 38:680-688, 2020.", "doi": "10.1002/jor.24504", "pmid": "31692049", "labels": [], "xrefs": [], "notes": [], "created": "2026-08-21T11:03:07.453Z", "modified": "2026-08-21T11:03:07.542Z"}], "created": "2026-08-21T11:03:07.513Z", "modified": "2026-08-21T11:03:07.513Z"}