Osteoarthritis (OA) etiology and pathogenesis not yet fully understood. We studied the role of vitamin D receptor single-nucleotide polymorphisms (VDR-SNPs), vitamin D3, serum and synovial macrophage migration inhibitory factor (MIF), and tumor necrosis factor-α (TNF-α) in the development and progression of knee OA (KOA). This study included 205 Egyptian subjects (105 patients with KOA and 100 unrelated, healthy matched subjects selected as controls). The patient group was divided into three groups according to KOA severity (mild, moderate, and severe), with 35 patients in each group. The polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) technique was used for the ApaI and TaqI SNPs. Vitamin D, serum and synovial TNF-α, and MIF assays were performed using ELISA kits. There were significantly lower serum levels of 25-hydroxycholecalciferol with significant increasing TNF-α and MIF levels in relation to disease severity among the cases (all: p˂0.05).Wild homozygous and heterozygous mutant genotypes (GG+GT) and G allele of ApaI demonstrated risk for KOA development, with odds ratio OR = 6.313 (95% confidence interval (CI) 2.074–19.210) and OR = 1.532 (95%CI 1.013–2.317), respectively. Homozygous mutant CC genotype and C allele of TaqI could be considered a risk factor associated with KOA development, with OR = 2.667 (95%CI 1.270–5.601) and OR = 0.737 (95%CI 0.496–1.095), respectively. VDR-SNPs, vitamin D3, TNF-α, and MIF could play an essential role in the pathogenesis and progression of KOA with mechanistic associations.

骨关节炎 (OA) 的病因和发病机制尚未完全清楚。我们研究了维生素 D 受体单核苷酸多态性 (VDR-SNP)、维生素 D3、血清和滑膜巨噬细胞迁移抑制因子 (MIF) 和肿瘤坏死因子-α (TNF-α) 在膝关节发育和进展中的作用办公自动化 (KOA)。该研究包括 205 名埃及受试者（105 名 KOA 患者和 100 名无关的健康匹配受试者作为对照）。将患者组按KOA严重程度（轻度、中度、重度）分为三组，每组35例。聚合酶链反应-限制性片段长度多态性 (PCR-RFLP) 技术用于Apa I 和Taq我的单核苷酸多态性。使用 ELISA 试剂盒进行维生素 D、血清和滑膜 TNF-α 和 MIF 测定。与疾病严重程度相关的25-羟基胆钙化醇血清水平显着降低，TNF-α和MIF水平显着升高（均：p˂0.05）。野生纯合和杂合突变基因型（GG+GT）和G等位基因Apa I 表现出发生 KOA 的风险，优势比 OR = 6.313（95% 置信区间 (CI) 2.074–19.210）和 OR = 1.532 (95%CI 1.013–2.317)。Taq的纯合突变CC基因型和C等位基因I 可以被认为是与 KOA 发展相关的风险因素，OR = 2.667 (95%CI 1.270–5.601) 和 OR = 0.737 (95%CI 0.496–1.095)。VDR-SNP、维生素 D3、TNF-α 和 MIF 可能在具有机制关联的 KOA 的发病机制和进展中发挥重要作用。