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 on Interactions of SNPs

作　　者：黄昊[1] 张一骅 赵锡磊 李怡然[1] 谢瑞强[1] 姜晶[1] 陈彬彬[1] 李琬[1] 吕俊杰[1] 何月涵[1] 陈丽娜[1] 

机构地区：[1]哈尔滨医科大学生物信息科学与技术学院,黑龙江哈尔滨150081

出　　处：《现代生物医学进展》2016年第21期4156-4158,共3页Progress in Modern Biomedicine

基　　金：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)

摘　　要：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。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 20 K 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.

关 键 词：SNP 互作 模块 冠心病 

分 类 号：R541.4[医药卫生—心血管疾病]