| dc.contributor.author | Laguette, Mary‐Jessica N. | |
| dc.contributor.author | Barrow, Kelly | |
| dc.contributor.author | Saunders, Colleen J. | |
| dc.date.accessioned | 2023-06-06T10:04:36Z | |
| dc.date.available | 2023-06-06T10:04:36Z | |
| dc.date.issued | 2020 | |
| dc.identifier.citation | Laguette, 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.24585 | en_US |
| dc.identifier.issn | 1554-527X | |
| dc.identifier.uri | https://doi.org/10.1002/jor.24585 | |
| dc.identifier.uri | http://hdl.handle.net/10566/9035 | |
| dc.description.abstract | 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. | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | Wiley | en_US |
| dc.subject | Bioinformatics | en_US |
| dc.subject | Betaglycan | en_US |
| dc.subject | Human genetics | en_US |
| dc.subject | Sport | en_US |
| dc.title | Exploring new genetic variants within col5a1 intron 4‐exon 5 region and tgf‐β family with risk of anterior cruciate ligament ruptures | en_US |
| dc.type | Article | en_US |
