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目的通过筛选室间隔缺损(ventricular septal defect,VSD)患者和正常对照组血清差异micro RNA(mi RNA),应用生物信息学方法预测VSD相关易感基因,为VSD的临床诊断和治疗提供理论依据。方法于2014年9月—2015年12月,采用mi RNA表达谱芯片技术在济南市儿童医院心外科取样并筛选VSD患者和正常对照组血清mi RNA差异表达情况,预测调控靶基因,经基因富集分析(gene ontology analysis,GO)和基因通路分析筛选候选基因。结果通过mi RNA芯片技术共获得36个差异表达mi RNAs,预测得到靶基因447个,新的VSD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差异mi RNA调控的7个靶基因可能与VSD密切相关,提示该病的发生是多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。
Objective To screen the differential microRNA (miRNA) in serum of patients with ventricular septal defect (VSD) and normal controls and to predict the susceptibility genes associated with VSD using bioinformatics methods, so as to provide a theoretical basis for the clinical diagnosis and treatment of VSD. Methods From September 2014 to December 2015, miRNA expression profile microarray was used to sample and screen the differentially expressed miRNA in patients with VSD and normal control in Ji’nan Children’s Hospital. The target genes were predicted and gene-rich Gene ontology analysis (GO) and gene pathway analysis screen candidate genes. Results A total of 36 differentially expressed miRNAs were obtained by miRNA microarray. The predicted target genes were 447 and the new VSD susceptibility genes were 7. Literature excavation found that these seven genes play an extremely important role in the process of cardiac development. Conclusions Bioinformatics analysis revealed that seven target genes regulated by differential mi RNAs may be closely related to VSD, suggesting that the occurrence of the disease is the result of multi-gene interaction and provide an effective guide for further research on the mechanism of the disease.