中文摘要：

目的：应用生物信息学预测先天性心脏病相关易感基因,为先天性心脏病的临床诊断和治疗提供理论依据。方法：通过OMIM数据库获取已知的先天性心脏病相关易感基因。将已知的疾病相关易感基因作为＂种子基因＂,利用蛋白质相互作用网络寻找邻近节点中富集了疾病相关易感基因的＂种子基因＂,并视其邻居基因为候选的疾病相关易感基因。对已知的疾病相关易感基因进行GO、Pathway和Human Phenotype富集分析,并据此注释候选基因;运用文献挖掘法对候选基因进行验证性分析。结果：通过OMIM共获取已知的先天性心脏病相关易感基因28个,发现邻近节点中富集了疾病相关易感基因的＂种子基因＂4个,得到候选的疾病相关易感基因20个,通过功能富集分析从中预测出新的先天性心脏病易感基因7个。文献挖掘发现这7个基因在心脏发育过程中均起着极其重要的作用。结论：通过生物信息学分析发现7个候选基因与已知的先天性心脏病相关易感基因关系密切,提示该病的发生是多种基因相互作用的结果,为后续深化该病机制研究提供了有效的指导。

英文摘要：

AIM： To understand the molecular pathogenesis of congenital heart disease and provide theoretical guideline for clinical diagnosis and treatment,congenital heart disease-related susceptibility genes were predicted.METHODS： Congenital heart disease-related susceptibility genes recorded in NCBI OMIM database were considered as ＂seed genes＂ and extracted.Protein-protein interaction network was utilized for searching ＂seed genes＂,whose neighborhood enriched disease-related susceptibility genes.Once the target ＂seed genes＂ were identified,its neighbor genes were considered as candidate disease-related susceptibility genes.The candidate genes were annotated according to the functional enrichment analysis of GO,Pathway and Human Phenotype for the known disease-related susceptibility genes.Literature-mining method was utilized for validating the predicted genes.RESULTS： Twenty-eight congenital heart disease-related susceptibility genes recorded in NCBI OMIM database were extracted.According to the statistical analysis,4 ＂seed genes＂,whose neighborhood enriched disease-related susceptibility genes,were identified.There were 20 candidate disease-related susceptibility genes.Seven genes were predicted to be congenital heart disease-related susceptibility genes and all of them participate in heart development by literature retrieval.CONCLUSION： There are close relationships between the 7 candidate genes and the known disease-related susceptibility genes.The pathogenesis of congenital heart disease involves multiple genes,and investigation of these genes may provide valuable insights into the mechanism of congenital heart disease.