基于高通量测序探讨子宫内膜异位症患者在位内膜特征基因OA
Transcriptome profiling of eutopic endometrium in endometriosis patients based on high-throughput sequencing
目的:通过对子宫内膜异位症(EMT)与正常在位内膜的差异表达基因(DEG)进行比较,明确相关的基因表达模式,筛选EMT 在位内膜的特征基因,以期为阐明EMT 的发病机制提供新的研究视角,为改善生殖结局提供重要线索.方法:收集40 例增殖期子宫内膜(EMT 组19 例,对照组 21 例),采用转录组学技术筛选 DEG 及相关通路,通过蛋白质互作网络(PPI)筛选特征基因,利用受试者工作特征曲线(ROC)评估诊断效能,并经 RT-qPCR 验证.结果:共鉴定出127 个 DEGs(55 个上调,72 个下调).富集分析显示,DEGs 主要富集于炎症及免疫反应通路.相关性分析提示 DEGs 间存在复杂的相互作用关系.经蛋白质互作网络与曲线分析,确定FCGR3B、GZMB 和GNLY 为EMT 在位内膜的特征基因.结论:本研究通过转录组学分析筛选出 EMT 与正常在位内膜的 DEGs,并鉴定了三个特征基因,为深入理解 EMT 病理生理机制及探索潜在治疗策略提供新线索.
Objective:To elucidate the gene expression patterns and identify character-istic genes in the eutopic endometrium of endometriosis(EMT)patients by comparing differenti-ally expressed genes(DEGs)between EMT and normal populations,thereby providing new in-sights into the pathogenesis of EMT and important clues for improving reproductive outcomes.Methods:A total of 40 proliferative-phase endometrial samples were collected,including 19 from patients with endometriosis(EMT)and 21 from normal controls.Transcriptomic analysis was performed to identify differentially expressed genes(DEGs)and related pathways.Charac-teristic genes were screened using a protein-protein interaction(PPI)network,and their diag-nostic efficacy was evaluated by receiver operating characteristic(ROC)curve analysis.Finally,we used RT-qPCR to validate the characteristic genes.Result:A total of 127 DEGs were identi-fied,including 55 up-regulated and 72 down-regulated genes.Enrichment analysis revealed that these DEGs were significantly associated with inflammation and immune response pathways.Correlation analysis indicated complex interactions among the DEGs.Through protein-protein interaction network and ROC curve analyses,FCGR3B,GZMB and GNLY were determined as characteristic genes of eutopic endometrium in EMT.Conclusions:This study identifies differ-entially expressed genes between EMT and normal eutopic endometrium by transcriptomic anal-ysis and validates three characteristic genes,offering new clues for understanding the pathophys-iological mechanisms of EMT and aiding in the exploration of potential therapeutic strategies.
郭靓;邹丽蓉;胡丽敏;杨莹莹;薛平平
南京医科大学常州医学中心,常州 213000南京医科大学常州医学中心常州市妇幼保健院生殖中心,常州 213000南京医科大学常州医学中心常州市妇幼保健院生殖中心,常州 213000南京医科大学常州医学中心,常州 213000南京医科大学常州医学中心常州市妇幼保健院生殖中心,常州 213000
医药卫生
子宫内膜异位症高通量测序转录组学特征基因
EndometriosisHigh-throughput sequencingTranscriptomicsCharacteris-tic genes
《现代妇产科进展》 2026 (6)
401-408,8
江苏省卫生健康委2023年度医学重点科研项目(No:K2023058)江苏省妇幼保健协会科研课题(No:FYX202323)常州市"十四五"卫生健康拔尖人才培养工程(No:2022CZBJ086)南京医科大学科技发展基金一般项目(No:NMUB20250172)
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