BCL2 and BAX genes are a group of signalling inducer and inhibitor genes playing a key role in the process of cellular physiological death (apoptosis). These genes, through the JAK/STAT signalling pathway, affect different cytokines on cell function and subsequently lead to the pathophysiology of diseases, especially autoimmune diseases. In addition, altering the methylation of genes can affect their expression. Since the aetiology and pathology of Behcet's disease is not fully understood, the aim of this study was to determine the methylation pattern of BCL2 and BAX genes in patients with Behcet's disease and compare it with those of control group. This was a case–control study on 51 patients with Behcet and 61 control subjects. Blood samples were received from all subjects. Subsequently, the peripheral blood mononuclear cells (PBMCs) were isolated by Ficoll method and the methylation of the sites was investigated using quantitative methylation specific PCR (qMS‐PCR) technique after extraction of DNA by salting out method and its examination with Nano drop. The results of methylation and expression of Bax gene suggest that the methylation level in the patient group significantly increased compared to the healthy individuals (p‐value < .05). Furthermore, the results related to Bax gene expression revealed that the mean of gene expression in the patient group has decreased compared to the healthy group, and this decrease was statistically significant (p‐value < .05). The rate of expression and methylation of Bcl2 did not indicate any change in the two patient and healthy groups. Given the results of this study, it can be guessed that perhaps DNA methylation is involved in certain conditions of the disease and it may result in regulation of the expression of the involved genes such as Bax gene, in the pathogenesis of the disease.

中文翻译：

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Bax和Bcl2基因的启动子甲基化及其在白塞病患者中的表达

BCL2和BAX基因是一组信号诱导和抑制基因，在细胞生理死亡（细胞凋亡）过程中起关键作用。这些基因通过 JAK/STAT 信号通路影响不同细胞因子对细胞功能的影响，进而导致疾病的病理生理，尤其是自身免疫性疾病。此外，改变基因的甲基化会影响它们的表达。由于对白塞病的病因和病理学尚不完全了解，本研究的目的是确定白塞病患者 BCL2 和 BAX 基因的甲基化模式，并将其与对照组进行比较。这是一项针对 51 名 Behcet 患者和 61 名对照受试者的病例对照研究。从所有受试者接收血样。随后，采用Ficoll法分离外周血单个核细胞（PBMC），盐析法提取DNA并用Nano drop检测后，采用定量甲基化特异性PCR（qMS-PCR）技术研究位点甲基化。Bax 基因的甲基化和表达结果表明，与健康个体相比，患者组的甲基化水平显着增加（p 值 < .05）。此外，与 Bax 基因表达相关的结果显示，与健康组相比，患者组的基因表达平均值有所降低，并且这种降低具有统计学意义（p 值 < .05）。Bcl2 的表达率和甲基化率并未表明两个患者和健康组的任何变化。鉴于这项研究的结果，