| 周艳艳 朱莉娜 谢瑞强 姜晶 陈彬彬
史宇晨 李琬 何月涵 黄昊 李怡然 陈丽娜△.整合冠心病风险SNPs功能及分子网络特征筛选疾病易感基因[J].,2016,16(19):3767-3770 |
| 整合冠心病风险SNPs功能及分子网络特征筛选疾病易感基因 |
| Integrating Functional Information of Risk SNPs and the Molecular NetworkCharacteristics to Screen Disease Susceptibility Genes |
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| DOI： |
| 中文关键词: 功能SNPs PPI网络 分类 易感基因 |
| 英文关键词: Function SNPs PPI network Classify Susceptibility genes |
| 基金项目:国家自然科学基金项目（61272388）；黑龙江省自然科学基金项目（F201237）；
国家及黑龙江省大学生创新创业训练基金项目（201410226010） |
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| 中文摘要: |
| 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，Calciumsignaling
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。 |
| 英文摘要: |
| Objective:Coronary heart disease (CHD) is a complex disease caused by many factors (genetic factors, environmental
factors and the interactions between them). New coronary heart disease susceptibility genes were recognized from the perspective of genetic
factors and molecular interaction patterns in this paper.Methods:The population genetic SNPs of CHD and protein-protein interaction
data were combined, the risks of population genetic SNPs were assessed, function SNPs were determined and genes in a PPI network
were classified. NewCHDsusceptibility genes were screened out using the method of two-step classification with function SNP attributes,
network topological attributes and gene function attributes as classification features.Results:69 new CHD susceptibility genes were obtained,
and 43 of them were confirmed to be closely related to the development of CHD. Many KEGG pathways annotated by new susceptibility
genes could not be annotated by known susceptibility genes, such as MAPK signaling pathway, Calcium signaling pathway,
Focal adhesion, Chemokine signaling pathway, and so on. Chemokine signaling pathway has been proved to be the critical pathway for
the development of CHD.Conclusion:The integrated screening strategy proposed in this paper could identify new susceptibility genes
associated with CHD, and provide a new direction for the prevention, diagnosis and treatment of CHD. |
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