Wang Xinyue, Zhang Zhaofeng, Zeng Weiwei, Zhong Yuqing, Xie Dandan, Zhu Weiqiang, Chen Fujia, Du Jing, Zhang Tingting
Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai, China.
NHC Key Lab of Reproduction Regulation (Shanghai Institute for Biomedical and Pharmaceutical Technologies), Fudan University, Shanghai, China.
Evid Based Complement Alternat Med. 2022 Apr 11;2022:4866360. doi: 10.1155/2022/4866360. eCollection 2022.
To screen the potential epigenetic biomarkers associated with endometriosis (EMS) and traditional Chinese medicine (TCM) syndrome EMS types.
A cohort of 99 participants comprising 42 EMS patients with cold coagulation blood stasis (CCBS) syndrome, 35 EMS patients with Qi stagnation blood stasis (QSBS) syndrome, and 22 women of childbearing age without EMS were recruited. Reduced representation bisulfite sequencing (RRBS) was used to establish the differential DNA methylation profiles in human peripheral blood samples obtained from four non-EMS and four EMS patients with CCBS or QSBS syndrome, respectively. Differentially expressed genes (DEGs) were verified in 18 non-EMS, 38 CCBS-EMS, and 31 QSBS-EMS using pyrosequencing.
Methylation sites of 123942, 127229, and 115961 were found in peripheral blood DNA of non-EMS, CCBS-EMS, and QSBS-EMS patients, respectively. GO and KEGG analyses showed that the pathological process of EMS may be closely related to the nervous system development, cell junctions, GABA-gated chloride ion channel activity, nicotine addiction, Hippo signaling pathway, mRNA surveillance pathway, and Wnt signaling pathway. The methylation level at CpG site within HDAC6 gene in QSBS-EMS patients was significantly different from that in control women.
The changes in DNA methylation in peripheral blood samples may be associated with EMS and TCM syndrome EMS types. The methylation level of HDAC6 gene may be used to distinguish QSBS-EMS patients from women without EMS.
筛选与子宫内膜异位症（EMS）及中医证型相关的潜在表观遗传生物标志物。
招募了99名参与者，其中包括42例寒凝血瘀型（CCBS）EMS患者、35例气滞血瘀型（QSBS）EMS患者以及22名无EMS的育龄期女性。采用简化代表性亚硫酸氢盐测序（RRBS）分别建立从4名非EMS患者以及4名CCBS或QSBS综合征EMS患者获取的人类外周血样本中的差异DNA甲基化图谱。使用焦磷酸测序在18名非EMS、38名CCBS-EMS和31名QSBS-EMS患者中验证差异表达基因（DEGs）。
在非EMS、CCBS-EMS和QSBS-EMS患者的外周血DNA中分别发现了123942、127229和115961个甲基化位点。基因本体（GO）和京都基因与基因组百科全书（KEGG）分析表明，EMS的病理过程可能与神经系统发育、细胞连接、GABA门控氯离子通道活性、尼古丁成瘾、Hippo信号通路、mRNA监测通路和Wnt信号通路密切相关。QSBS-EMS患者中HDAC6基因内CpG位点的甲基化水平与对照女性有显著差异。
外周血样本中DNA甲基化的变化可能与EMS及中医证型相关。HDAC6基因的甲基化水平可用于区分QSBS-EMS患者与无EMS的女性。
