基于SNP 互作识别潜在冠心病致病基因

目的:基于全基因组关联分析(Genomewideassociationstudy,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(SingleNucleotidePolymorphisms,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。

Identification of Potential Coronary Heart Disease Pathogenic Genes based on Interactions of SNPs

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.