Browsing by Author "Barrow, Kelly"

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    Exploring new genetic variants within col5a1 intron 4‐exon 5 region and tgf‐β family with risk of anterior cruciate ligament ruptures
    (Wiley, 2020) Laguette, Mary‐Jessica N.; Barrow, Kelly; Saunders, Colleen J.
    Variants 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.