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CC BY 4.0 · Rev Bras Ortop (Sao Paulo) 2024; 59(04): e584-e589
DOI: 10.1055/s-0043-1771531
Artigo Original
Medicina do Esporte

The COL5A1 Gene Allelic Combination and ACL Injury Risk in Team Sport: A Preliminary Report

Article in several languages: português | English
Carla Maria Calò 
1   Departamento de Ciências Biológicas e Ambientais, Universidade de Cagliari, Itália
,
Myosotis Massidda 
2   Faculdade de Medicina e Cirurgia, Universidade de Cagliari, Itália
,
Roberto Sorge 
3   Departmento de Sistemas Médicos, Faculdade de Medicina e Cirurgia, Universidade de Roma “Tor Vergata”, Roma, Itália
,
Alessandra Tiloca 
4   Universidade de Roma “Tor Vergata”, Roma, Itália
,
Giovanni Monteleone 
5   Escola de Educação Física e Ciências do Exercício, Universidade de Roma “Tor Vergata”, Roma, Itália
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Financial Support The authors declare that this research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
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Abstract

Objective: The aim of this study was to examine the relationship between BstUI restriction fragment length polymorphisms (RFLP) C/T (rs 12722) and DpnII RFLP B1/B2 (rs 13946) COL5A1 polymorphisms and the anterior cruciate ligament (ACL) rupture in competitive team-sport athletes.

Methods Sixty-eight team-sport players (n = 36 women and n = 32 men) with non-contact ACL rupture (ACLR) occurred during sport practices (ACLR Group) and 42 healthy players (n = 20 women and n = 22 men) (Control Group) participated in the study. Genomic DNA was extracted from buccal swab with salting out method. All samples were genotyped for the polymorphisms rs12722 and rs13946 by polymerase chain reaction (PCR) and restriction enzymes analysis.

Results No significant difference has been found between ACRL and Control groups in age, height, weight body, mass index, sport practice (hours/week) and gender distribution among the different team sports. Control group had longer sport careers (p< 0.005). The frequency distributions of COL5A1 DpnII nucleotide polymorphisms were in Hardy-Weinberg equilibrium (HWE) in both groups (p of the Hardy-Weinberg (HW) -test > 0.005). Genotype frequencies of COL5A1 BstUI RFLP C/C was lower in the ACLR group compared to the Control group (p of the HW-test = 0.001). Combined CC, B1B1 genotypes showed a protective effect against ACL rupture (OR = 83.3 / 16.7 = 5).

Conclusions The COL5A1 gene may be one of the genetic factors associated with ACLR in team sport.

Keywords

anterior cruciate ligament - athletes - athletic injuries - polymorphism, single nucleotide - rupture

Authors' Contributions

Each author contributed individually and significantly to the development of this article: CMC - Design of the study, contributed to data collection;


MM contributed to data collection and review.


AT - Athletes recruitment and technical sports consulting; GM - Original draft preparation. Review and editing.


Work carried out at the University of Cagliari, Italy, University of Rome “Tor Vergata”, Rome, Italy.




Publication History

Received: 21 July 2022

Accepted: 16 December 2022

Article published online:
22 April 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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