Başkent Üniversitesi Tıp Fakültesi, Ortopedi ve Travmatoloji Anabilim Dalı, 06490 Bahçelievler, Ankara, Türkiye.
Jt Dis Relat Surg. 2021;32(2):299-305. doi: 10.52312/jdrs.2021.64. Epub 2021 Jun 11.
The aim of this study was to investigate the relationship between MMP13 rs3819089, ADAM12 rs3740199 and rs1871054, and ADAMTS14 rs4747096 genotypes in patients with radiologically diagnosed knee osteoarthritis (OA).
A total of 300 patients (68 males, 232 females; mean age: 61.6 years; range, 25 to 89 years) who were admitted to the orthopedics and traumatology clinic and diagnosed with knee OA according to the 2000 American College of Rheumatology (ACR) criteria between October 2018 and March 2019 were prospectively analyzed. Patients with Grades III-IV OA according to the Kellgren-Lawrence (K-L) grading system were included in the patient group (n=150) and those without radiological features of knee OA (K-L Grades I-II) were included in the control group (n=150) voluntarily. The presence of single nucleotide polymorphisms (SNPs) in the targeted genes in both groups was assessed by real-time polymerase chain reaction in the peripheral blood sample.
The most common nucleotides in both the control and patient groups were CG for rs3740199 and CT for rs1871054 in the ADAM12 gene, and the most common nucleotides in alleles were GG for MMP13 rs3819089 and AA for ADAMTS14 rs4747096. No statistically significant relationship was detected between the gene polymorphisms and advanced OA.
The study results suggest that ADAM12 rs3740199 and rs1871054, MMP13 rs3819089, and ADAMTS14 rs4747096 polymorphisms have no relationship with knee OA susceptibility in the Turkish population. However, as this is the first study to investigate the relationship between the SNPs of ADAM12, ADAMTS14, and MMP13 genes and the development of OA in the Turkish population, it would contribute to our understanding of the molecular bases of OA.
本研究旨在探讨基质金属蛋白酶 13（MMP13）rs3819089、解整合素金属蛋白酶 12（ADAM12）rs3740199 和 rs1871054 以及解整合素金属蛋白酶 14（ADAMTS14）rs4747096 基因型与影像学诊断的膝骨关节炎（OA）患者之间的关系。
2018 年 10 月至 2019 年 3 月，前瞻性分析了因膝关节 OA 就诊于骨科和创伤科门诊并根据 2000 年美国风湿病学会（ACR）标准诊断的 300 例患者（68 例男性，232 例女性；平均年龄 61.6 岁；范围 25 至 89 岁）。根据 Kellgren-Lawrence（K-L）分级系统，将 K-L 分级为 III-IV 级的患者纳入患者组（n=150），将无膝关节 OA 影像学特征的患者（K-L 分级 I-II）纳入对照组（n=150）。通过外周血样本实时聚合酶链反应评估两组目标基因中单核苷酸多态性（SNP）的存在情况。
在对照组和患者组中，ADAM12 基因中 rs3740199 的最常见核苷酸为 CG，rs1871054 为 CT；等位基因中最常见的核苷酸为 MMP13 rs3819089 的 GG 和 ADAMTS14 rs4747096 的 AA。基因多态性与进展性 OA 之间未发现统计学显著关系。
本研究结果表明，ADAM12 rs3740199 和 rs1871054、MMP13 rs3819089 和 ADAMTS14 rs4747096 多态性与土耳其人群膝关节 OA 的易感性无关。然而，由于这是首次研究 ADAM12、ADAMTS14 和 MMP13 基因的 SNP 与土耳其人群 OA 发展之间的关系，因此它将有助于我们了解 OA 的分子基础。
