Faculty of Medicine, Department of Biochemistry, University of Niš, Bulevar dr Zorana Djindjića 81, Niš, 18000, Serbia.
Clinic of Pediatrics, Clinical Center Niš, Niš, Serbia.
Clin Rheumatol. 2019 Jan;38(1):117-124. doi: 10.1007/s10067-018-4264-2. Epub 2018 Aug 20.
Vitamin D receptor (VDR) gene FokI (rs2228570) polymorphism was postulated to influence outcome of several inflammatory diseases. The aim of this study was to evaluate the influence of rs2228570 polymorphism on lipid profile and on outcome in patients with juvenile idiopathic arthritis (JIA) treated with etanercept. A total of 153 subjects (62 JIA patients and 91 controls) were screened for the rs2228570 using the PCR-RFLP method. Lipid profile (cholesterol, triacylglycerol, HDL-C, and LDL-C) was determined using standard biochemical analysis in controls, while in JIA patients, it was determined prior to and 12 months after anti-TNF (etanercept) therapy. Clinical outcome was assessed using the JIA-American College of Rheumatology (ACR) response criteria. There were significant differences in the distribution of genotypes (p = 0.024) and alleles (p = 0.006; OR = 2.222, 95% CI 1.136-4.348) of the rs2228570 between patients and controls. Etanercept treatment significantly increased HDL-C levels (p = 0.006) in JIA patients with FF genotype in comparison to baseline values. No significant differences were seen in JIA-ACR 30/50/70 responses at month 12 between FF and Ff/ff genotype carriers. This is the first study to demonstrate the protective effect of the VDR FokI FF genotype on lipid profile in JIA patients treated with etanercept. However, this has to be confirmed in a larger cohort of patients.
维生素 D 受体 (VDR) 基因 FokI(rs2228570) 多态性被认为会影响多种炎症性疾病的结局。本研究旨在评估 rs2228570 多态性对接受依那西普治疗的幼年特发性关节炎 (JIA) 患者血脂谱和结局的影响。共对 153 例受试者（62 例 JIA 患者和 91 例对照）进行了 rs2228570 的 PCR-RFLP 检测。在对照组中，使用标准生化分析方法测定了血脂谱（胆固醇、甘油三酯、HDL-C 和 LDL-C），而在 JIA 患者中，在接受抗 TNF（依那西普）治疗之前和 12 个月后测定了血脂谱。使用 JIA-美国风湿病学会（ACR）反应标准评估临床结局。患者与对照组之间的基因型（p=0.024）和等位基因（p=0.006；OR=2.222，95%CI 1.136-4.348）分布存在显著差异。与基线值相比，FF 基因型的 JIA 患者依那西普治疗后 HDL-C 水平显著升高（p=0.006）。在 12 个月时，FF 和 Ff/ff 基因型携带者的 JIA-ACR30/50/70 反应率之间没有显著差异。这是第一项表明 VDR FokI FF 基因型对接受依那西普治疗的 JIA 患者血脂谱具有保护作用的研究。然而，这需要在更大的患者队列中得到证实。
