医学信息2025，Vol.38Issue(9)：8-13,6.DOI:10.3969/j.issn.1006-1959.2025.09.002
FKTN突变扩张型心肌病相关基因的生物信息学分析
Bioinformatics Analysis of FKTN Mutant Dilated Cardiomyopathy Related Genes
摘要
Abstract
Objective To investigate the pathogenic mechanism of FKTN gene mutation in dilated cardiomyopathy.Methods The GSE138280 gene expression profile related to FKTN was downloaded from the Gene Expression Omnibus database,and the differential expression of FKTN gene mutation myocardial tissue and normal myocardial tissue was analyzed.The heatmap R package was used to display the differentially expressed genes in the FKTN gene mutant myocardial tissue,and further enrichment analysis of the differentially expressed genes was performed to find the enrichment pathways.Protein interaction network analysis was used to find the key pathway proteins in the FKTN gene mutant myocardial tissue,and to find its pathogenic mechanism and therapeutic targets.Results Bioinformatics analysis of FKTN gene showed that compared with the healthy control group,5636 differentially expressed genes were identified in the FKTN mutation group,of which 2630 were up-regulated and 3006 were down-regulated.Among the up-regulated genes,GO analysis found that it was mainly concentrated in inflammatory response and extracellular matrix collagen fiber proliferation.KEGG pathway analysis found that they were mainly enriched in the interaction of cytokine-cytokine receptor,interleukin-17 signaling pathway,tumor necrosis factor signaling pathway,chemokine signaling pathway,P53 signaling pathway and extracellular matrix receptor interaction.Protein interaction network analysis found that the key node genes were Fn1,CD44,Kif18a,CXC,Saa3;among the down-regulated genes,GO analysis found that they were mainly concentrated in calcium transport,myocardial contraction,endoplasmic reticulum,sarcomere,microtubule and protein glycosylation.KEGG pathway analysis found that they were mainly concentrated in myocardial contraction,dilated cardiomyopathy and calcium signaling pathway.Protein interaction network analysis found that the key node genes were Asb15 and Efcab2.Conclusion The pathogenesis of mice with FKTN mutation-related DCM may be related to intracardiac calcium homeostasis,cardiomyocyte inflammation,microtubule abnormalities,and extracellular matrix hyperplasia.关键词
扩张型心肌病/基因检测/FKTN/生物信息学Key words
Dilated cardiomyopathy/Genetic testing/FKTN/Bioinformatics分类
临床医学引用本文复制引用
陈成,苏丹艳,覃素元,黄钰钦,叶冰冰,黄滟云,庞玉生..FKTN突变扩张型心肌病相关基因的生物信息学分析[J].医学信息,2025,38(9):8-13,6.基金项目
广西卫健委自筹课题(编号:Z20210993) （编号:Z20210993）
