| 黄昊 张一骅 赵锡磊 李怡然 谢瑞强 姜晶 陈彬彬 李琬 吕俊杰 何月涵 陈丽娜.基于SNP 互作识别潜在冠心病致病基因[J].,2016,16(21):4156-4158 |
| 基于SNP 互作识别潜在冠心病致病基因 |
| Identification of Potential Coronary Heart Disease Pathogenic Genes based onInteractions of SNPs |
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| DOI： |
| 中文关键词: SNP 互作 模块 冠心病 |
| 英文关键词: SNP Interaction Module Coronary heart disease |
| 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）；国家大学生创新创业训练项目（201416226010） |
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| 中文摘要: |
| 目的：基于全基因组关联分析(Genome wide association study, GWAS)数据与生物信息学方法，识别冠心病潜在致病基因。方
法：利用生物信息学方法和GWAS数据，对单核苷酸多态性(Single Nucleotide Polymorphisms, SNP)进行疾病风险打分，依据特定
距离阈值内的SNP-SNP 互作关系，筛选出疾病相关SNP显著风险模块，识别潜在致病基因。结果：设定阈值20kb，经筛选获得
279个SNP显著风险模块，映射到79 个基因，文献验证率为71.01%。结论：基于SNP互作识别的潜在致病基因，能更加准确的分
析冠心病的发生发展过程。 |
| 英文摘要: |
| Objective:To identify potential coronary heart disease pathogenic genes of coronary heart disease based on Genome
wide association study (GWAS) data and the bioinformatics methods.Methods:Based on GWAS data and the bioinformatics methods,
calculated the single nucleotide polymorphisms (SNP) disease risk score, mining the interactions of SNP-SNP based on the SNPs' position
in chromosomes within a certain threshold value, screening significant risk module, and identified potential coronary heart disease
pathogenic genes.Results:Set 20K as threshold value, 279 SNP significant risk module were obtained finally, totally mapped to 79
genes, document verification rate was 71.01 %.Conclusion:Using SNP-SNP interaction to identify potentially pathogenic genes of coronary
heart disease could analyze the occurrence and development of coronary heart disease more accurately. |
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