Laguette, Mary‐Jessica N.Barrow, KellySaunders, Colleen J.2023-06-062023-06-062020Laguette, 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.245851554-527Xhttps://doi.org/10.1002/jor.24585http://hdl.handle.net/10566/9035Variants 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.enBioinformaticsBetaglycanHuman geneticsSportArticle