Joint Reconstruction Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
J Orthop Surg Res. 2022 Sep 29;17(1):436. doi: 10.1186/s13018-022-03324-w.
Developmental dysplasia of the hip (DDH) is a musculoskeletal disorder. Genetic and epigenetic changes in C-X3-C motif chemokine receptor 1 (CX3CR1) may lead to disturbance in chondrocyte development and change the labrum dimensions, which indirectly result in hip joint instability. Considering the important role of this gene in cell migration, cell adhesion and bone and cartilage development, we aimed to evaluate the CX3CR1 gene methylation in DDH pathogenesis.
Our study comprised of forty-five DDH patients and forty-five healthy control subjects with healthy femoral neck cartilage. The healthy controls had total or hemiarthroplasty for the femoral neck fracture. Samples were collected from the femoral head (cartilage) of DDH patients and healthy controls. Genomic DNA was obtained from the samples, and DNA methylation of CX3CR1 gene was analyzed via metabisulfite method.
Methylation analysis reveals no significant differences in promoter of CX3CR1 gene in cartilage samples from DDH patients and healthy control subjects (P = 0.33).
Methylation status of CX3CR1 gene showed no significant difference between the patient and control groups. Our results indicate that DNA methylation may not modulate this gene in this disease and other epigenetic mechanisms such as non-coding RNAs and histone modifications could be implicated.
发育性髋关节发育不良（DDH）是一种肌肉骨骼疾病。C-X3-C 趋化因子受体 1（CX3CR1）的遗传和表观遗传变化可能导致软骨细胞发育紊乱，并改变唇尺寸，从而间接导致髋关节不稳定。考虑到该基因在细胞迁移、细胞黏附和骨与软骨发育中的重要作用，我们旨在评估 CX3CR1 基因甲基化在 DDH 发病机制中的作用。
本研究纳入 45 例 DDH 患者和 45 例因股骨颈骨折行全髋关节或半髋关节置换术的健康对照者。采集 DDH 患者和健康对照者的股骨头（软骨）样本。采用亚硫酸氢盐法检测 CX3CR1 基因的甲基化。
甲基化分析显示，DDH 患者和健康对照组软骨样本中 CX3CR1 基因启动子的甲基化无显著差异（P=0.33）。
患者组和对照组 CX3CR1 基因的甲基化状态无显著差异。我们的结果表明，DNA 甲基化可能不会调节该基因在该疾病中的作用，而非编码 RNA 和组蛋白修饰等其他表观遗传机制可能与此有关。
