AbstractIntroductionVitamin D has important roles as a natural immune modulator via regulating the expression of genes which have been implicated in the pathophysiology of autoimmune diseases. Vitamin D function and its deficiency have been linked to a wide range of metabolic disorders including disorders of calcium metabolism, malignant, cardiovascular, infectious, neuromuscular, and inflammatory diseases. Environmental factors, genetic factors, and epigenetic changes contribute to Behcet's disease (BD) development. The aim of our study was to analyze the expression level and methylation status of the vitamin D receptor (VDR) gene promoter in the peripheral blood mononuclear cells (PBMCs) of patients with BD.MethodsIn a case‐control study, 48 Iranian Azeri patients with BD and 60 age‐, sex‐ and ethnically‐matched healthy controls were included. Venous blood samples were collected and PBMCs were isolated by Ficoll protocol. The DNA and RNA were subsequently extracted. Promoter methylation levels were evaluated by MeDIP‐quantitative polymerase chain reaction (qPCR). The expression of VDR was evaluated by real‐time PCR.ResultsThe results of quantitative real‐time PCR analysis showed that the level of VDR expression in patients with BD was significantly lower than the control group (P = .013). There was no significant difference in the level of DNA methylation in the BD and control groups (P > .05). As the results show, the expression level of VDR gene was significantly different between female and male in the patient group (P = .001). VDR gene expression was significantly higher in subjects with phlebitis. No correlation was observed between VDR gene expression rate and BD activity.ConclusionVDR gene expression decreased in patients with BD. However, there is no suggestion evidence that the expression level of VDR is regulated by a unique DNA methylation mechanism. No correlation exists between VDR gene expression and BD activity.

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白塞病维生素D受体基因的表达及甲基化状态

摘要介绍维生素 D 通过调节与自身免疫性疾病病理生理学有关的基因表达，作为天然免疫调节剂发挥着重要作用。维生素 D 功能及其缺乏与多种代谢紊乱有关，包括钙代谢紊乱、恶性疾病、心血管疾病、感染性疾病、神经肌肉疾病和炎症性疾病。环境因素、遗传因素和表观遗传变化会导致白塞氏病 (BD) 的发生。我们的研究目的是分析BD患者外周血单个核细胞（PBMC）中维生素D受体（VDR）基因启动子的表达水平和甲基化状态。方法在一项病例对照研究中，纳入了 48 名患有 BD 的伊朗阿塞拜疆患者和 60 名年龄、性别和种族匹配的健康对照。收集静脉血样并通过Ficoll方案分离PBMC。随后提取DNA和RNA。通过 MeDIP 定量聚合酶链反应 (qPCR) 评估启动子甲基化水平。通过实时PCR评估VDR的表达。结果实时定量PCR分析结果显示，BD患者中VDR的表达水平显着低于对照组（磷=.013）。BD组和对照组的DNA甲基化水平没有显着差异（磷> .05)。结果显示，表达水平虚拟数据寄存器患者组中女性和男性的基因存在显着差异（磷= .001)。虚拟数据寄存器患有静脉炎的受试者的基因表达显着较高。之间没有观察到相关性虚拟数据寄存器基因表达率和BD活性。结论虚拟数据寄存器BD 患者的基因表达下降。然而，没有证据表明VDR的表达水平受到独特的DNA甲基化机制的调节。之间不存在相关性虚拟数据寄存器基因表达和 BD 活性。