Department of Infectious Diseases, Xi'an Jiaotong University Second Affiliated Hospital, Xi'an, China.
Department of Infectious Diseases, Xi'an Jiaotong University Second Affiliated Hospital, Xi'an, China.
Int J Infect Dis. 2021 Apr;105:199-208. doi: 10.1016/j.ijid.2021.02.049. Epub 2021 Feb 14.
To explore the mechanisms of interferon-induced transmembrane protein 3 (IFITM3) in response to enterovirus-71-associated hand, foot and mouth disease (EV71-HFMD), in terms of DNA methylation, single-nucleotide polymorphism (SNP) genotype and gene expression.
In total, 120 patients with EV71-HFMD (60 with mild EV71-HFMD and 60 with severe EV71-HFMD) and 60 healthy controls were enrolled in this study. SNP genotype, IFITM3 promoter methylation and mRNA expression of peripheral blood mononuclear cells were examined using the improved multi-temperature ligase detection reaction, quantitative reverse transcriptase polymerase chain reaction and MiSeq, respectively.
The distribution of methylation in patients with EV71-HFMD was significantly lower compared with healthy controls, and the severe EV71-HFMD group showed the lowest frequency of IFITM3 promoter methylation. The average level of IFITM3 promoter CpG methylation was negatively correlated with IFITM3 mRNA expression, and hypermethylation of several specific CpG units contributed to IFITM3 downregulation. IFITM3 expression and promoter methylation correlated with EV71 infection progression, especially in the severe EV71-HFMD group. Compared with mild cases, genotype GG and the G allele of rs12252 were over-represented in patients with severe EV71-HFMD.
IFITM3 methylation status and SNP genotyping may help clinicians to choose the correct treatment strategy for patients with EV71-HFMD.
从 DNA 甲基化、单核苷酸多态性(SNP)基因型和基因表达方面,探讨干扰素诱导跨膜蛋白 3(IFITM3)对肠道病毒 71 型(EV71)相关手足口病(HFMD)的作用机制。
本研究共纳入 120 例 EV71-HFMD 患者(轻症 60 例,重症 60 例)和 60 例健康对照者。采用改良多重温度连接酶检测反应、实时定量逆转录聚合酶链反应和 MiSeq 分别检测 SNP 基因型、外周血单个核细胞 IFITM3 启动子甲基化和 mRNA 表达。
与健康对照者相比,EV71-HFMD 患者的 IFITM3 启动子甲基化分布显著降低,且重症 EV71-HFMD 组 IFITM3 启动子甲基化频率最低。IFITM3 启动子 CpG 甲基化平均水平与 IFITM3 mRNA 表达呈负相关,多个特定 CpG 单元的高甲基化导致 IFITM3 下调。IFITM3 表达和启动子甲基化与 EV71 感染进展相关,在重症 EV71-HFMD 组尤为明显。与轻症病例相比,重症 EV71-HFMD 患者中基因型 GG 和 rs12252 的 G 等位基因更为常见。
IFITM3 甲基化状态和 SNP 基因分型可能有助于临床医生为 EV71-HFMD 患者选择正确的治疗策略。