摘要
Abstract
Objective To study the genome-wide methylation pattern of medial temporal lobe epilepsy(MTLE)using Illu-mina 850K genome-wide methylation microarray and explore its role in the occurrence and development of MTLE.Methods A total of 48 MTLE patients(MTLE group)and 48 matched healthy volunteers were selected from Xiangya Hospital of Cen-tral South University from January 2016 to December 2022.Blood samples were collected and DNA was extracted.Illumina 850K genome-wide methylation chip was used to detect the DNA methylation level,obtain the methylation level data,and screen the differential methylation sites.The gene ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)pathway of differential methylated genes were analyzed by DAVID database and KEGG,and the protein interaction network(PPI)was analyzed by Strings database.Results There were 2 564 differential methylation sites(false discovery rate＜0.01)in peripheral venous blood DNA between the MTLE group and the control group.Among them,2 474 methylation sites with increased methylation,90 methylation sites with decreased methylation,and 464 methylation sites were located in the promoter region,including 433 hypermethylation sites and 31 hypomethylation sites.There were 248 genes involved.There were 2 564 significant differential methylation sites corresponding to 1 576 genes,and many genes were related to epilepsy.The KEGG pathway analysis involved multiple pathways such as cholinergic synapse and glutaminergic synapse.Conclu-sion The methylation level of MTLE patients is changed,and the methylation level is mainly increased.The differential methylation of MTLE promoter region was mainly increased.Differential methylation genes in MTLE patients are involved in multiple biological pathways,mainly involved in the regulation of synaptic function,and the change of DNA methylation level may play an important role in the occurrence of MTLE.关键词
颞叶内侧癫痫/表观遗传学/DNA甲基化/生物信息学Key words
Mesial temporal lobe epilepsy/Epigenetic/DNA methylation/Bioinformatics分类
临床医学
