Sex Differences in the Association Between Risk of Anterior Cruciate Ligament Rupture and COL5A1 Polymorphisms in Elite Footballers

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2023 Jan 21

PMID 36672775

Authors

Gil Rodas

Alejandro Caceres

Eva Ferrer

Laura Balague-Dobon

Lourdes Osaba

Alejandro Lucia

Juan R Gonzalez

Affiliations

Soon will be listed here.

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 ( = 0.017). No significant associations were found in male footballers. The interaction between rs13946 and sex was significant ( = 0.027). We found that the C-allele of rs13946 was exclusive to one haplotype of five SNPs spanning .

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.

Citing Articles

Strategies for preventing anterior cruciate ligament injuries in athletes: Insights from a scoping review.

Viswanathan V, Vaishya R, Iyengar K, Jain V, Vaish A J Orthop. 2025; 67:101-110.

PMID: 39911228 PMC: 11791312. DOI: 10.1016/j.jor.2025.01.001.

Anatomical Tissue Engineering of the Anterior Cruciate Ligament Entheses.

Gogele C, Hahn J, Schulze-Tanzil G Int J Mol Sci. 2023; 24(11).

PMID: 37298698 PMC: 10253789. DOI: 10.3390/ijms24119745.

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