CAJ | 학술논문

目的用生物信息学方法探讨结节性硬化症与难治性癫痫的发病相关基因，为癫痫的基础研究和临床治疗提供新思路。方法从基因芯片公共数据库Gene Expression Omnibus(GEO)中下载结节性硬化症与难治性癫痫相关基因芯片数据，利用String、KEGG、Panther等在线分析软件对差异表达基因进行生物信息学分析。结果在100个差异表达基因所编码的蛋白中,有47个蛋白与其他蛋白存在相互作用关系，作用过程涉及多种生物学通路，与多个生物学过程和分子功能相关。结论结节性硬化症与难治性癫痫这二者发病是多种基因相互作用的结果，其中与GFAP、ANXA2和S100A 10等关系最为密切。
목적 용생물신식학방법탐토결절성경화증여난치성전간적발병상관기인，위전간적기출연구화림상치료제공신사로。 방법 종기인심편공공수거고Gene Expression Omnibus(GEO)중하재결절성경화증여난치성전간상관기인심편수거，이용String、KEGG、Panther등재선분석연건대차이표체기인진행생물신식학분석。 결과 재100개차이표체기인소편마적단백중,유47개단백여기타단백존재상호작용관계，작용과정섭급다충생물학통로，여다개생물학과정화분자공능상관。 결론 결절성경화증여난치성전간저이자발병시다충기인상호작용적결과，기중여GFAP、ANXA2화S100A 10등관계최위밀절。
Objective To investigate the genes associated with tuberous scleroses complex and refractory epilepsy with bioinformatics methods to provide new ideas for the basic research and clinical treatment of epilepsy. Methods The microarray data of tuberous scleroses complex and refractory epilepsy were downloaded from the Gene Expression Omnibus (GEO) database and analyzed by bioinformatics methods using String, KEGG and Panther databases.Results Of all the 100 differentially expressed genes, 47 were found to encode proteins with interactions; they involved to multiple biological pathways, biological processes and molecular functions.Conclusion The pathogenesis of tuberous scleroses complex and refractory epilepsy involves multiple genes, such as GFAP, ANXA 2 and S100A 10.