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

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.  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.  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 ( < 0.005). The frequency distributions of COL5A1 DpnII nucleotide polymorphisms were in Hardy-Weinberg equilibrium (HWE) in both groups ( 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 ( of the HW-test = 0.001). Combined CC, B1B1 genotypes showed a protective effect against ACL rupture (OR = 83.3 / 16.7 = 5).  The COL5A1 gene may be one of the genetic factors associated with ACLR in team sport.