Gundogdu Koksal, Dodurga Yavuz, Gungor Harun Resit, Gundogdu Gulsah, Akkaya Semih
Department of Orthopedics and Traumatology, Denizli State Hospital, Denizli, Türkiye.
Department of Medical Biology, Faculty of Medicine, Pamukkale University, Denizli, Türkiye.
BMC Musculoskelet Disord. 2025 Feb 14;26(1):153. doi: 10.1186/s12891-025-08396-3.
This study aimed to assess the relationships between knee OA (KOA) and the genes encoding collagen type XI-alpha1 (COL11A1), vascular endothelial growth factor (VEGF), and growth differentiation factor-5 (GDF-5), which have recently been investigated for their role in the pathophysiology of KOA in a Turkish Population.
This study included 100 patients who underwent surgery for KOA at Pamukkale University Medical Faculty's Orthopedics and Traumatology clinics and 100 volunteers with knee pain but without radiological evidence of KOA as a control group. Knee radiographs were assessed, and blood samples were collected from both groups for gene polymorphism analysis, with a focus on COL11A1 rs4907986, COL11A1 rs1241164, VEGF rs833058, and GDF5 rs143383.
Our findings revealed no statistically significant difference between the KOA and control groups for COL11A1 rs4907986 and rs1241164. However, COL11A1 rs4907986 was found to be more common in women. The VEGF rs833058 polymorphism did not significantly differ between the KOA and control groups, although the equal distribution of homozygous polymorphisms in both groups suggests its potential utility in diagnostic considerations. Similarly, no significant difference was observed for the GDF-5 rs143383 polymorphism. However, this polymorphism was more frequent than the wild type in both groups, suggesting its potential association with KOA and its possible utility as an early diagnostic marker.
While no significant associations were found between COLL11A1, VEGF, or GDF-5 polymorphisms and KOA, the findings highlight the prevalence of GDF5 rs143383 in both groups, suggesting its potential role in the pathogenesis of KOA and its utility as a diagnostic marker. Further research is needed to better understand the genetic factors involved in KOA.
Not applicable.
本研究旨在评估膝关节骨关节炎(KOA)与编码 XI-α1 型胶原(COL11A1)、血管内皮生长因子(VEGF)和生长分化因子-5(GDF-5)的基因之间的关系,最近在土耳其人群中对这些基因在 KOA 病理生理学中的作用进行了研究。
本研究纳入了 100 例在棉花堡大学医学院骨科和创伤科诊所接受 KOA 手术的患者,以及 100 例有膝关节疼痛但无 KOA 放射学证据的志愿者作为对照组。对膝关节 X 光片进行评估,并从两组采集血样进行基因多态性分析,重点关注 COL11A1 rs4907986、COL11A1 rs1241164、VEGF rs833058 和 GDF5 rs143383。
我们的研究结果显示,KOA 组和对照组在 COL11A1 rs4907986 和 rs1241164 方面无统计学显著差异。然而,发现 COL11A1 rs4907986 在女性中更为常见。VEGF rs833058 多态性在 KOA 组和对照组之间无显著差异,尽管两组中纯合多态性的均等分布表明其在诊断考量中的潜在效用。同样,GDF-5 rs143383 多态性也未观察到显著差异。然而,该多态性在两组中均比野生型更为常见,表明其与 KOA 的潜在关联及其作为早期诊断标志物的可能效用。
虽然未发现 COLL11A1、VEGF 或 GDF-5 多态性与 KOA 之间存在显著关联,但研究结果突出了 GDF5 rs143383 在两组中的普遍性,表明其在 KOA 发病机制中的潜在作用及其作为诊断标志物的效用。需要进一步研究以更好地了解参与 KOA 的遗传因素。
不适用。