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ABSTRACT: 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.
SUBMITTER: Rodas G
PROVIDER: S-EPMC9858943 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
Rodas Gil G Cáceres Alejandro A Ferrer Eva E Balagué-Dobón Laura L Osaba Lourdes L Lucia Alejandro A González Juan R JR
Genes 20221222 1
<h4>Background</h4>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.<h4>Purpose</h4>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.<h4>Study design</h4>T ...[more]