Candela Vincenzo, Longo Umile Giuseppe, Berton Alessandra, Salvatore Giuseppe, Forriol Francisco, de Sire Alessandro, Denaro Vincenzo
Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy.
Research Unit of Orthopaedic and Trauma Surgery, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy.
J Clin Med. 2024 Apr 17;13(8):2330. doi: 10.3390/jcm13082330.
The etiopathogenesis of ACL rupture is not clarified. The aim of this study is to identify genomic regions and genetic variants relevant to anterior cruciate ligament injury susceptibility that could be involved in non-contact anterior cruciate ligament ruptures.
A systematic review of the literature was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines with a PRISMA checklist and algorithm. A search of PubMed, MEDLINE, CINAHL, Cochrane, EMBASE, and Google Scholar databases was conducted using combinations of the terms "anterior cruciate ligament", "ACL", "rupture", "genetics", "single nucleotide polymorphisms", and "SNP" since the inception of the databases until 2021.
Twenty-three studies were included. A total of 7724 patients were analyzed. In total, 3477 patients had ACL ruptures and 4247 patients were controls. Genetic variants in genes encoding for collagens, elastin, fibrillin, matrix metalloproteinases, proteoglycans, angiogenesis-associated signaling cascade proteins, growth differentiation factors, tissue inhibitors of metalloproteases, interleukins, and fibrinogen were analyzed.
Findings regarding the association between genes encoding for collagen (COL3A1, COL1A1, and COL12A1), aggrecan (ACAN), decorin (DCN), matrix metalloproteinase (MMP3), interleukin 6 (IL-6), vascular endothelial growth factor A (VEGFA), biglycan (BGN), fibrinogen (FGB), and ACL injuries were found to be inconclusive. Additional evidence is required in order to establish substantial conclusions regarding the association between genetic variants and ACL rupture.
前交叉韧带（ACL）断裂的发病机制尚不清楚。本研究的目的是确定与前交叉韧带损伤易感性相关的基因组区域和基因变异，这些可能与非接触性前交叉韧带断裂有关。
根据系统评价和Meta分析的首选报告项目（PRISMA）指南，使用PRISMA清单和算法对文献进行系统评价。自数据库建立至2021年，在PubMed、MEDLINE、CINAHL、Cochrane、EMBASE和谷歌学术数据库中进行检索，检索词组合为“前交叉韧带”“ACL”“断裂”“遗传学”“单核苷酸多态性”和“SNP”。
纳入23项研究，共分析7724例患者。其中，3477例患者发生ACL断裂，4247例患者为对照。分析了编码胶原蛋白、弹性蛋白、原纤维蛋白、基质金属蛋白酶、蛋白聚糖、血管生成相关信号级联蛋白、生长分化因子、金属蛋白酶组织抑制剂、白细胞介素和纤维蛋白原的基因中的基因变异。
关于编码胶原蛋白（COL3A1、COL1A1和COL12A1）、聚集蛋白聚糖（ACAN）、核心蛋白聚糖（DCN）、基质金属蛋白酶（MMP3）、白细胞介素6（IL-6）、血管内皮生长因子A（VEGFA）、双糖链蛋白聚糖（BGN）、纤维蛋白原（FGB）的基因与ACL损伤之间的关联，研究结果尚无定论。需要更多证据才能就基因变异与ACL断裂之间的关联得出实质性结论。
