协和医学杂志

2017, v.8(Z1) 171-178

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基于常染色体显性多囊肾病基因芯片数据的生物信息学分析
Bioinformatic Analysis of Microarray Data of Autosomal Dominant Polycystic Kidney Disease

薛澄;周晨辰;许晶;杨博;徐成钢;戴兵;刘亚伟;孙丽君;高翔;郁胜强;梅长林;
XUE Cheng;ZHOU Chen-chen;XU Jing;YANG Bo;XU Cheng-gang;DAI Bing;LIU Ya-wei;SUN Li-jun;GAO Xiang;YU Sheng-qiang;MEI Chang-lin;Department of Nephrology,Changzheng Hospital,the Second Military Medical University;

摘要(Abstract):

目的通过GEO数据库(Gene Expression Omnibus)下载常染色体显性多囊肾病(autosomal dominant polycystic kidney disease,ADPKD)患者基因芯片数据集进行分析,得出共同差异表达基因(differentially expressed genes,DEGs)并进行生物信息学分析,探索ADPKD发病机制中可能的信号通路和蛋白-蛋白相互作用机制。方法通过GEO数据库下载两组关于ADPKD患者肾囊肿组织及对照组织的基因芯片数据集GSE7869和GSE35831,对其进行DEGs筛选,使用DAVID数据库和Funrich软件分析生物学信息及信号通路,使用STRING数据库分析蛋白-蛋白相互作用机制。结果 GSE7869共有3970个DEGs,GSE35831共有147个DEGs。两组DEGs有28个相同的上调基因和24个相同的下调基因:上调DEGs的功能集中在离子通道相关通路,相关信号通路富集于自噬相关通路如m TOR和PI3K/Akt通路、生长因子和整合素相关通路;下调DEGs集中于能量代谢功能和相关信号通路。结论通过分析ADPKD得出的52个DEGs和相关富集信号通路,可为疾病研究提供潜在的生物标记物和方向;调控ADPKD肾细胞自噬、延缓囊肿进展将可能成为新的研究焦点。
Objective The microarray data of autosomal dominant polycystic kidney disease( ADPKD)was downloaded from the Gene Expression Omnibus( GEO) and analyzed to identify the differential expression genes( DEGs) and to explore the possible signal pathways and protein interaction mechanisms in ADPKD by bioinformatics analysis. Methods Two microarray datasets( GSE7869 and GSE35831) of renal cyst tissue of ADPKD patients and dataset of normal controlled tissue were downloaded and screened from GEO database. The DAVID database and Funrich software were used to analyze biological information and signal pathway analysis,and the STRING database was used to analyze protein interaction mechanisms. Results There were 3970 DEGs in GES7869 and 147 DEGs in GSE35831. There were 28 up-regulated genes in the two groups of DEGs and 24 identical down-regulated genes. Up-regulated of DEGs focused on ion channel-related pathways,enriched in autophagy relted pathways,such as m TOR and PI3K/Akt pathways,growth factors and integrin-related pathways,and down-regulated of DEGs focused on energy metabolism and related signaling pathways. Conclusions Analysis of the 52 DEGs and related enrichment signal pathways of the ADPKD could provide potential biomarkers and directions for the future study of ADPKD. Regulation of renal cell autophagy to delay cystic progression might become a new research focus in ADPKD.

关键词(KeyWords): 多囊肾;常染色体显性;基因芯片;GO功能富集分析
polycystic kidney disease;autosomal dominant;gene chip;GO function enrichment analysis

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基金项目(Foundation): 国家重点研发计划(2016YFC0901500);; 上海地区慢性肾脏病早发现和诊疗体系建设与示范(GWIV-18);; 国家自然科学基金面上项目(81670612)

作者(Author): 薛澄;周晨辰;许晶;杨博;徐成钢;戴兵;刘亚伟;孙丽君;高翔;郁胜强;梅长林;
XUE Cheng;ZHOU Chen-chen;XU Jing;YANG Bo;XU Cheng-gang;DAI Bing;LIU Ya-wei;SUN Li-jun;GAO Xiang;YU Sheng-qiang;MEI Chang-lin;Department of Nephrology,Changzheng Hospital,the Second Military Medical University;

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