PDF(Pubmed)
Abstract：
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.
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.
This was a cohort genetic association study.
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.
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.
The present study suggests the role of SNPs in genes encoding for collagens as female risk factors for ACL injury in football players.
The genetic profiling of athletes at high risk of ACL rupture can contribute to sex-specific strategies for injury prevention in footballers.
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.
This was a cohort genetic association study.
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.
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.
The present study suggests the role of SNPs in genes encoding for collagens as female risk factors for ACL injury in football players.
The genetic profiling of athletes at high risk of ACL rupture can contribute to sex-specific strategies for injury prevention in footballers.
摘要：
背景：胶原基因中的单核苷酸多态性（SNP）是前交叉韧带（ACL）破裂的诱发因素。虽然这些事件在女性中更常见，尚未评估报告的SNP的性别特异性风险.
目的：我们旨在评估历史性非接触式ACL破裂的性别特异性风险，考虑到先前与肌肉相关的基因中的候选SNP，肌腱,精英足球运动员的韧带和ACL受伤。
方法：这是一项队列遗传关联研究。
方法：在2020-21赛季为巴塞罗那足球俱乐部（西班牙）一线队效力的46名（24名女性）足球运动员被纳入研究。我们评估了2022年7月之前的非接触式ACL破裂史与108个选定的SNP之间的关联。按性别分层。然后测试在一种性别中具有名义上显着关联的SNP与ACL上性别的相互作用。
结果：7名女性（29％）和1名男性（4％）参与者在其职业足球生涯中在最后观察日期之前经历了非接触式ACL断裂。我们发现rs13946C/C基因型与女性足球运动员的ACL损伤之间存在显着关联（p=0.017）。在男性足球运动员中没有发现明显的关联。rs13946与性别的交互作用显著(p=0.027)。我们发现rs13946的C等位基因是跨越COL5A1的五个SNP的一个单倍型所独有的。
结论：本研究表明，SNPs在胶原蛋白编码基因中的作用是足球运动员ACL损伤的女性危险因素。
结论：ACL破裂高风险运动员的遗传特征可有助于足球运动员预防损伤的性别特异性策略。
目的：我们旨在评估历史性非接触式ACL破裂的性别特异性风险，考虑到先前与肌肉相关的基因中的候选SNP，肌腱,精英足球运动员的韧带和ACL受伤。
方法：这是一项队列遗传关联研究。
方法：在2020-21赛季为巴塞罗那足球俱乐部（西班牙）一线队效力的46名（24名女性）足球运动员被纳入研究。我们评估了2022年7月之前的非接触式ACL破裂史与108个选定的SNP之间的关联。按性别分层。然后测试在一种性别中具有名义上显着关联的SNP与ACL上性别的相互作用。
结果：7名女性（29％）和1名男性（4％）参与者在其职业足球生涯中在最后观察日期之前经历了非接触式ACL断裂。我们发现rs13946C/C基因型与女性足球运动员的ACL损伤之间存在显着关联（p=0.017）。在男性足球运动员中没有发现明显的关联。rs13946与性别的交互作用显著(p=0.027)。我们发现rs13946的C等位基因是跨越COL5A1的五个SNP的一个单倍型所独有的。
结论：本研究表明，SNPs在胶原蛋白编码基因中的作用是足球运动员ACL损伤的女性危险因素。
结论：ACL破裂高风险运动员的遗传特征可有助于足球运动员预防损伤的性别特异性策略。
