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发育医学电子杂志  2025, Vol. 13 Issue (3): 167-174    DOI: 10.3969/j.issn.2095-5340.2025.03.002
  生殖胚胎   论著 |产科 |
早发性卵巢功能不全致病机制的生物信息学分析
白者乔 蒋红红 张文丹 王伟 王启航 商微
(1. 解放军医学院,北京100853;2. 解放军总医院第七医学中心 儿科医学部,北京 100700;3. 解放军总医院第七医学中心 妇产科医学部,北京 100700)
Bioinformatics analysis of the pathogenic mechanisms of premature ovarian insufficiency
Bai Zheqiao, Jiang Honghong, Zhang Wendan, et al
(1. MedicalSchool of Chinese PLA Medical School, Beijing 100853, China; 2. Department of Pediatrics, the Seventh Medical Center of Chinese PLA General Hospital, Beijing 100700, China; 3. Department of Obstetrics andGynecology, the Seventh Medical Center of Chinese PLA General Hospital, Beijing 100700, China)
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摘要 【摘要】 目的  采用生物信息学方法对早发性卵巢功能不全(premature ovarian insufficiency,POI)患者
的转录组芯片数据进行深入分析,旨在鉴定出该疾病的特征基因和关键通路,以期对POI 的分子遗传
机制有更精确的理解,进而为其治疗手段提供新思路。 方法 本研究从基因表达综合(Gene Expression
Omnibus,GEO)数据库中选择GSE201276 数据集,利用高通量测序技术对产生的表达谱进行差异性分
析,筛选差异表达基因(differently expressed gene,DEG),并进行基因本体论(Gene Ontology,GO)分析和京都基因与基因组百科全书(Kyoto Encyclopedia of Genes and Genomes,KEGG)通路分析。然后,对表达谱数据集进行加权基因共表达网络分析(weighted gene co-expression network analysis,WGCNA)的构建,从WGCNA 网络中挑选与特定性状高度相关的模块基因,并与DEG 进行交集分析,以确定与POI相关的关键基因,并构建蛋白质互作(protein-protein interaction,PPI)网络,进而获取与POI 相关的关键基因。 结果  本研究共筛选出352 个DEG(59 个上调表达基因和293 个下调表达基因)和18 个关
键基因(CDK1、TOP2A、CCNB2、CENPA、BIRC5、CCNB1、KIF2C、DLGAP5、MKI67、KIF4A、CDCA8、
NUSAP1、CENPF、UBE2C、PBK、HJURP、SPAG5、AURKB)。根据KEGG 通路分析结果,DEG 主要在
细胞周期、卵母细胞减数分裂、细胞因子- 细胞因子受体相互作用、p53 信号通路以及Wnt 信号通路等
13 条相关通路中显著富集。 结论  本研究采用生物信息学方法揭示了POI 的关键基因。这些已被识
别的关键基因亦为POI 的治疗提供了新的潜在靶点。
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关键词:  早发性卵巢功能不全  特征基因  生物信息学  加权基因共表达网络分析  关键通路    
Abstract: 【Abstract】 Objective The in-depth analysis of transcriptome microarray data from patients with premature ovarian insufficiency (POI) using bioinformatics methods aims to identify the characteristic genes and key pathways of the disease, with a view to providing a more precise understanding of the molecular genetic mechanism ofPOI, and thus providing new ideas for its therapeutic means. Method In this study, the GSE201276 dataset was selected from the Gene Expression Omnibus (GEO) database, and the resulting expression profiles weredifferentially analyzed using high-throughput sequencing to screen for differentially expressed gene (DEG), and subjected to Gene Ontology (GO) analysis and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathwayanalysis. Next, weighted gene co-expression network analysis (WGCNA) was constructed for the expression profiling dataset, and then modular genes highly correlated with specific traits were selected from the WGCNAnetwork and intersected with DEG to identify key POI-related genes, and construct the protein-protein interaction(PPI) network, and then obtain the key genes related to POI. Result A total of 352 DEG (59 up-expressed genesand 293 down-expressed genes) and 18 key genes (CDK1, TOP2A, CCNB2, CENPA, BIRC5, CCNB1, KIF2C,DLGAP5, MKI67, KIF4A, CDCA8, NUSAP1, CENPF, UBE2C, PBK, HJURP, SPAG5, AURKB). According tothe results of KEGG pathway analysis, these DEG were significantly enriched mainly in 13 relevant pathways,including cell cycle, oocyte meiosis, cytokine-cytokine receptor interactions, p53 signaling pathway, and Wntsignaling pathway. Conclusion In this study, a bioinformatics approach was used to successfully reveal the key
genes of POI. These identified key genes also provide new potential targets for the treatment of POI
Key words:  Premature ovarian insufficiency    Characteristic gene    Bioinformatics    Weighted gene coexpression network analysis    Key pathway
收稿日期:  2025-01-26                     发布日期:  2025-05-31     
基金资助: “十四五”国家重点研发计划项目(2022YFC3500504);军队计划生育专项课题(24JSZ16)
通讯作者:  商微    E-mail:  shang.wei@163.com
引用本文:    
白者乔 蒋红红 张文丹 王伟 王启航 商微. 早发性卵巢功能不全致病机制的生物信息学分析[J]. 发育医学电子杂志, 2025, 13(3): 167-174.
Bai Zheqiao, Jiang Honghong, Zhang Wendan, et al. Bioinformatics analysis of the pathogenic mechanisms of premature ovarian insufficiency. Journal of Developmental Medicine(Electronic Version), 2025, 13(3): 167-174.
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http://www.fyyxzz.com/CN/10.3969/j.issn.2095-5340.2025.03.002  或          http://www.fyyxzz.com/CN/Y2025/V13/I3/167
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