涉及主动脉瓣钙化的潜在易感基因的生物信息学分析  

Bioinformatics Analysis of Potential Susceptible Genes Involved in Aortic Valve Calcification

作　　者：张丁文 刘霖如 吕磊 吴宗吕 李昊天 唐攀力 易斌 杨淞然[3] 华平[1] ZHANG Ding⁃wen;LIU Lin⁃ru;LV Lei;WU Zong⁃lv;LI Hao⁃tian;TANG Pan⁃li;YI Bin;YANG Song⁃ran;HUA Ping(Department of Cardio⁃Vascular Surgery,Sun Yat⁃sen Memorial Hospital,Sun Yat⁃sen University,Guangzhou 510120,China;Child Development and Behavior Center,The Third Affiliated Hospital,Sun Yat⁃sen University,Guangzhou 510630,China;The Biobank of Sun Yat⁃sen Memorial Hospital,Sun Yat⁃sen University,Guangzhou,510120,China)

机构地区：[1]中山大学孙逸仙纪念医院心血管外科,广州510120 [2]中山大学附属第三医院儿童发育行为中心,广州510630 [3]中山大学孙逸仙纪念医院生物样本库,广州510120

出　　处：《岭南现代临床外科》2020年第1期48-54,共7页Lingnan Modern Clinics in Surgery

基　　金：广州市科技对外合作项目（201704030032）

摘　　要：目的通过对主动脉瓣钙化相关差异表达基因及其生物学过程的研究,探索主动脉瓣钙化潜在的易感基因。方法差异表达分析基于统计学方法筛选出基因表达量上存在显著性差异的基因。功能学的分析有目的的筛选成骨过程及钙离子代谢过程中存在显著富集的基因,并认为该基因可能参与这些生物学过程导致主动脉瓣的钙化。PPI互作网络分析则进一步诠释这些基因内部的调控关系。结果差异分析的结果显示共有133个差异表达的基因,其中包括51个表达上调的基因以及82个表达下调的基因。GO和KEGG富集分析筛选成骨细胞分化,骨骼系统开发以及骨化三个生物学过程。整合功能学分析和PPI互作网络的结果,最终确定SPP1和COL5A2为关键基因。结论本研究通过生物信息学的分析方法确定了SPP1和COL5A2可能为主动脉瓣钙化的潜在易感基因。Objective Based on bioinformatic method,to investigate the potentially susceptible genes involved in aortic valve calcification.Methods Differential expression analysis aimed to screened out genes with significant differences in gene expression.Functional analysis purposefully screened genes enriched in osteogenesis and calcium metabolism,and identified these genes may lead to aortic valve cal⁃cification in these biological processes.PPI interaction network analysis further interprets the regulatory relationships within these genes.Results Total of 133 differentially expressed genes,including 51 up⁃regulated genes and 82 down⁃regulated genes were identified.GO and KEGG enrichment analysis screened the biological processes of osteoblast differentiation,skeletal system development,and ossifica⁃tion.Combining the results of functional analysis and PPI interaction network,SPP1 and COL5A2 were finally identified as key genes.Conclusion In this study,bioinformatics analysis was used to identify potential susceptible genes that SPP1 and COL5A2 may be aortic valve calcification.

关 键 词：主动脉瓣钙化 主动脉瓣狭窄 SPP1 COL5A2 成骨分化 

分 类 号：R681.5[医药卫生—骨科学]