Sex Differences in the Association between Risk of Anterior Cruciate Ligament Rupture and COL5A1 Polymorphisms in Elite Footballers
Rodas, Gil (Hospital Sant Joan de Déu (Manresa))
Cáceres, Alejandro (Universitat Politècnica de Catalunya. Departament de Matemàtiques)
Ferrer, Eva (Hospital Sant Joan de Déu (Manresa))
Balagué-Dobón, Laura (Barcelona Institute for Global Health (ISGlobal))
Osaba, Lourdes (Progenika Biopharma)
Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (Madrid))
González, Juan Ramón (Universitat Autònoma de Barcelona. Departament de Matemàtiques)

Fecha:	2023
Resumen:	Background: Single-nucleotide polymorphisms (SNPs) in collagen genes are predisposing factors for anterior cruciate ligament (ACL) rupture. Although these events are more frequent in females, the sex-specific risk of reported SNPs has not been evaluated. Purpose: We aimed to assess the sex-specific risk of historic non-contact ACL rupture considering candidate SNPs in genes previously associated with muscle, tendon, ligament and ACL injury in elite footballers. Study Design: This was a cohort genetic association study. Methods: Forty-six (twenty-four females) footballers playing for the first team of FC Barcelona (Spain) during the 2020-21 season were included in the study. We evaluated the association between a history of non-contact ACL rupture before July 2022 and 108 selected SNPs, stratified by sex. SNPs with nominally significant associations in one sex were then tested for their interactions with sex on ACL. Results: Seven female (29%) and one male (4%) participants had experienced non-contact ACL rupture during their professional football career before the last date of observation. We found a significant association between the rs13946 C/C genotype and ACL injury in women footballers (p = 0. 017). No significant associations were found in male footballers. The interaction between rs13946 and sex was significant (p = 0. 027). We found that the C-allele of rs13946 was exclusive to one haplotype of five SNPs spanning COL5A1. Conclusions: The present study suggests the role of SNPs in genes encoding for collagens as female risk factors for ACL injury in football players. Clinical Relevance: The genetic profiling of athletes at high risk of ACL rupture can contribute to sex-specific strategies for injury prevention in footballers.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Anterior cruciate ligament ; Injury ; Single-nucleotide polymorphisms ; Female ; Team sport ; Football ; Collagen ; COL5A1 ; Rs13946 ; Rs12722 ; Sex differences
Publicado en:	Genes, Vol. 14, Issue 1 (January 2023) , art. 33, ISSN 2073-4425

DOI: 10.3390/genes14010033
PMID: 36672775

9 p, 496.9 KB

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