MMP3 single nucleotide polymorphisms are associated with non-contact ACL injuries in competing high-level athletes.

Matrix metalloproteinases (MMPs) play an important role in matrix remodelling, as well as in ligament integrity. Anterior cruciate ligament (ACL) rupture is a severe and frequent knee injury in sports. The aim of this study was to investigate polymorphisms within the MMP3 gene with the predisposition for non-contact ACL rupture in the Croatian professional athletes. One hundred eighty-seven (95 with ACL rupture occurring through a non-contact mechanism and 92 asymptomatic controls) unrelated Caucasians were recruited between 2016 and 2017. All participants were genotyped for three single nucleotide polymorphisms (SNP) within the MMP3 gene: rs591058 C/T, rs650108 A/G and rs679620 G/A using the pyrosequencing method. For all three investigated SNPs, genotype frequencies have significantly differed between cases and controls. The MMP3 rs591058 TT (p=0.0012, OR=38.541, 95%CI=1.7024-8.7254), rs650108 GG (p=0.0051, OR=23.338, 95%CI=1.2899-4.2226) and rs679620 AA (p=0.0030, OR=34.750, 95%CI= 1.5266-7.9101) genotypes, as well as haplotype variant T-G-A (p=0.0104, OR=1.71, 95%CI=1.13-2.59) were significantly over-represented in cases compared to controls. These results support association between functional variants within the MMP3 gene and the risk of ACL rupture. Still, further research is needed to corroborate these results in a larger population. This article is protected by copyright. All rights reserved.