Exploring new genetic variants within col5a1 intron 4‐exon 5 region and tgf‐β family with risk of anterior cruciate ligament ruptures
Date
2020Author
Laguette, Mary‐Jessica N.
Barrow, Kelly
Saunders, Colleen J.
Metadata
Show full item recordAbstract
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.