Exploring new genetic variants within col5a1 intron 4‐exon 5 region and tgf‐β family with risk of anterior cruciate ligament ruptures

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dc.contributor.authorLaguette, Mary‐Jessica N.
dc.contributor.authorBarrow, Kelly
dc.contributor.authorSaunders, Colleen J.
dc.date.accessioned2023-06-06T10:04:36Z
dc.date.available2023-06-06T10:04:36Z
dc.date.issued2020
dc.description.abstractVariants within genes encoding structural and regulatory elements of ligaments have been associated with musculoskeletal soft tissue injury risk. The role of intron 4‐exon 5 variants within the α1 chain of type V collagen (COL5A1) gene and genes of the transforming growth factor‐β (TGF‐β) family, TGFBR3 and TGFBI, was investigated on the risk of anterior cruciate ligament (ACL) ruptures. A case‐control genetic association study was performed on 210 control (CON) and 249 participants with surgically diagnosed ruptures (ACL), of which 147 reported a noncontact mechanism of injury (NON). Whole‐exome sequencing data were used to prioritize variants of potential functional relevance.en_US
dc.identifier.citationLaguette, M. J. N. et al. (2020). Exploring new genetic variants within col5a1 intron 4‐exon 5 region and tgf‐β family with risk of anterior cruciate ligament ruptures. Journal of Orthopaedic Research, 38 (8) , 1856-1865. https://doi.org/10.1002/jor.24585en_US
dc.identifier.issn1554-527X
dc.identifier.urihttps://doi.org/10.1002/jor.24585
dc.identifier.urihttp://hdl.handle.net/10566/9035
dc.language.isoenen_US
dc.publisherWileyen_US
dc.subjectBioinformaticsen_US
dc.subjectBetaglycanen_US
dc.subjectHuman geneticsen_US
dc.subjectSporten_US
dc.titleExploring new genetic variants within col5a1 intron 4‐exon 5 region and tgf‐β family with risk of anterior cruciate ligament rupturesen_US
dc.typeArticleen_US

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