2nd Department of Trauma and Orthopaedics, University of Athens Medical School, "Agia Olga" Hospital, 3-5 Ag. Olgas Street, 14233, Nea Ionia, Athens, Greece; Department of Medical Genetics, University of Athens Medical School, "Agia Sophia" Children's Hospital, Thivon and Levadias Str., 11527, Athens, Greece.
J Orthop Res. 2014 Sep;32(9):1155-60. doi: 10.1002/jor.22647. Epub 2014 May 16.
Osteoarthritis is the most common form of arthritis with still unknown pathogenic etiology and considerable contribution of genetic factors. One of the mechanisms of cartilage degradation in osteoarthritis is enzymatic proteolysis of the extracellular matrix by metalloproteinases. MMP-1, produced by chondrocytes and synovial cells, is a major proteinase of the MMPs family. The present study aims at evaluating the association of MMP1 gene -1607 1G/2G (rs1799750) polymorphism with primary knee osteoarthritis in the Greek population. One hundred fifty five patients with primary symptomatic knee osteoarthritis participated in the study along with 139 controls. Genotypes were determined using PCR-RLFP technique. Allelic and genotypic frequencies were compared between both study groups. There was no significant association between MMP1 -1607 1G/2G polymorphism and knee osteoarthritis, in crude analysis; however, after multiple logistic regression analysis, 1G/2G was associated with reduced odds of knee osteoarthritis by 75% in males, compared to genotypes 1G/1G + 2G/2G, adjusting for age and BMI (adjusted OR: 0.25, 95% CI: 0.069, 0.910, p = 0.035). The present study shows that MMP1 -1607 1G/2G (rs1799750) polymorphism might be a risk factor for knee osteoarthritis susceptibility in the Greek population. Further investigations are needed to confirm this association in the pathogenesis of osteoarthritis.
骨关节炎是最常见的关节炎形式，其发病机制尚不清楚，遗传因素有很大影响。骨关节炎中软骨降解的机制之一是金属蛋白酶对细胞外基质的酶解作用。软骨细胞和滑膜细胞产生的 MMP-1 是 MMPs 家族的主要蛋白水解酶。本研究旨在评估 MMP1 基因-1607 1G/2G(rs1799750)多态性与希腊人群原发性膝骨关节炎的相关性。155 例原发性症状性膝骨关节炎患者和 139 例对照者参与了本研究。采用 PCR-RLFP 技术检测基因型。比较两组研究对象的等位基因和基因型频率。在粗分析中，MMP1-1607 1G/2G 多态性与膝骨关节炎之间无显著相关性;然而，经过多因素逻辑回归分析，与基因型 1G/1G+2G/2G 相比，1G/2G 使男性患膝骨关节炎的几率降低了 75%，调整年龄和 BMI 后(调整 OR:0.25，95%CI:0.069，0.910，p=0.035)。本研究表明，MMP1-1607 1G/2G(rs1799750)多态性可能是希腊人群膝骨关节炎易感性的危险因素。需要进一步的研究来证实这种相关性在骨关节炎发病机制中的作用。
