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The Apoptosis Pathway and CASP8 Variants Conferring Risk for Acute and Overuse Musculoskeletal Injuries
Umeå University, Faculty of Medicine, Department of Community Medicine and Rehabilitation.ORCID iD: 0000-0002-0366-4609
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2019 (English)In: Journal of Orthopaedic Research, ISSN 0736-0266, E-ISSN 1554-527XArticle in journal (Refereed) Epub ahead of print
Abstract [en]

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.

Place, publisher, year, edition, pages
2019.
Keywords [en]
ACL, biomarkers, carpal tunnel, genetics and genomics, ligament, matrix degradation, rotator cuff, statistics, tendon
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Physiotherapy
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URN: urn:nbn:se:umu:diva-165228DOI: 10.1002/jor.24504PubMedID: 31692049OAI: oai:DiVA.org:umu-165228DiVA, id: diva2:1370531
Available from: 2019-11-15 Created: 2019-11-15 Last updated: 2019-11-21

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Häger, CharlotteNilsson, Kjell G

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Department of Community Medicine and RehabilitationDepartment of Surgical and Perioperative Sciences
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