Genos Ltd., Zagreb, Croatia.
Faculty of Kinesiology, University of Zagreb, Zagreb, Croatia.
J Orthop Res. 2024 Jan;42(1):109-114. doi: 10.1002/jor.25663. Epub 2023 Jul 24.
Matrix metalloproteinases (MMPs) play an important role in matrix remodeling, 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 noncontact ACL rupture in the Croatian professional athletes. One hundred eighty-seven (95 with ACL rupture occurring through a noncontact 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, odds ratio [OR] = 38.541, 95% confidence interval [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 overrepresented 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.
基质金属蛋白酶（MMPs）在基质重塑以及韧带完整性中起着重要作用。前交叉韧带（ACL）断裂是运动中一种严重且常见的膝关节损伤。本研究旨在探讨 MMP3 基因内的多态性与克罗地亚职业运动员非接触性 ACL 断裂的易感性之间的关系。2016 年至 2017 年期间，共招募了 187 名（95 名 ACL 断裂通过非接触机制发生，92 名无症状对照）无关的白种人。所有参与者均使用焦磷酸测序法对 MMP3 基因内的三个单核苷酸多态性（SNP）进行 rs591058 C/T、rs650108 A/G 和 rs679620 G/A 基因型分析。在所研究的三个 SNP 中，病例组和对照组之间的基因型频率存在显著差异。MMP3 rs591058 TT（p=0.0012，比值比[OR] = 38.541，95%置信区间[CI] = 1.7024-8.7254）、rs650108 GG（p=0.0051，OR = 23.338，95% CI = 1.2899-4.2226）和 rs679620 AA（p=0.0030，OR = 34.750，95% CI = 1.5266-7.9101）基因型以及 T-G-A 单倍型变体（p=0.0104，OR = 1.71，95% CI = 1.13-2.59）在病例组中明显高于对照组。这些结果支持 MMP3 基因内功能性变体与 ACL 断裂风险之间的关联。然而，仍需要进一步的研究来在更大的人群中证实这些结果。
