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目的:冠心病(Coronary Heart Disease,CHD)是一种由多因素(遗传因素、环境因素以及它们之间的相互作用)引起的复杂疾病。本文从遗传因素和分子互作模式识别新的冠心病易感基因。方法:结合冠心病群体遗传SNPs数据和PPI数据,通过群体遗传数据的风险评估、功能SNPs的判定和PPI网络基因的分类,以功能SNPs属性、网络拓扑属性和基因功能属性为特征,利用两步分类的方法筛选新的冠心病易感基因。结果:获得了69个新的冠心病易感基因,其中43个被文献证实与冠心病的发生发展密切相关,且识别的新的易感基因注释的KEGG通路中有很多是已知的易感基因所没有注释到的,如MAPK signaling pathway,Calcium signaling pathway,Focal adhesion和Chemokine signaling pathway等,其中Chemokine signaling pathway被证实是CHD发展的关键通路。结论:应用本文提出的整合筛选策略,能识别与冠心病相关的新的易感基因,可为冠心病的预防、诊断和治疗提供新的研究方向。
Objective: Coronary heart disease (CHD) is a complex disease caused by multiple factors (genetic factors, environmental factors and the interaction between them). In this paper, new genetic susceptibility genes of coronary heart disease (CHD) were identified from genetic factors and molecular interaction patterns. Methods: Based on genetic SNP data and PPI data of coronary heart disease (CHD) population, the genetic SNPs, network topological attributes and gene function attributes were characterized by risk assessment of population genetic data, determination of functional SNPs and classification of PPI network genes. Classification method of screening for new coronary heart disease susceptibility genes. RESULTS: Sixty-nine novel genes susceptible to coronary heart disease were obtained, of which 43 were confirmed by the literature as being closely related to the development of coronary heart disease. Many of the KEGG pathways identified as new susceptible genes were known to be susceptible There are no annotated genes, such as MAPK signaling pathway, Calcium signaling pathway, Focal adhesion and Chemokine signaling pathway, among which Chemokine signaling pathway has been confirmed as the key pathway for the development of CHD. Conclusion: The integrated screening strategy proposed in this paper can identify new susceptible genes associated with coronary heart disease, and provide a new research direction for the prevention, diagnosis and treatment of coronary heart disease.