中文摘要：

目的评价FADS基因簇单核苷酸多态性与冠心病的相关性,寻找冠心病易感等位基因。方法在冠心病组（375例）和对照组（389例）中,建立应用HRM技术对FADS基因簇5个SNP位点——rs174537、rs174611、rs174616、rs174450、rs174460的基因分型方法并进行等位基因频率分析,对所有SNP位点进行连锁不平衡分析。结果冠心病组和对照组相比,位点rs174537、rs174460和rs174611的基因型分布差异有统计学意义（P〈0.05）,首次发现rs174460的C等位与增高的冠心病患病风险相关,CC型携带者罹患冠心病风险较未携带者增高1.64倍[P〈0.01,OR=1.64,95%CI=（1.29~2.08）],两组间位点rs174616和rs174450基因型分布差异无统计学意义（P〉0.05）。结论基于HRM技术的基因分型方法快速准确;FADS基因簇SNP位点rs174537,rs174460以及rs174611与冠心病易感风险密切相关。

英文摘要：

Objective To evaluate the relationship between FADS gene polymorphisms and the occurrence of coronary artery disease,looking for susceptibility alleles in CAD patients.Methods Establish SNP genotyping based on high resolution melting（HRM）platform for SNPs located in FADS gene cluster-rs174537,rs174611,rs174616,rs174450 and rs174460,in both CAD group（375 cases）and control group（389 cases）.Analyze the genotypes and allele frequency,and then perform linkage disequilibrium analysis for all SNP loci.Results Remarkable differences were observed in rs174537,rs174460 and rs174611 genotype distribution between CAD group and control group（P＆lt;0.05）.We firstly reported that the rs174460 Callele is associated with a higher risk of CAD[P＆lt;0.01,OR=1.64,95% CI=（1.29-2.08）].Neither the difference of genotype distribution nor that of allele frequency was found in the other two loci（P＆gt;0.05）.Conclusion HRM platform can perform genotyping with high sensitivity and accuracy.Rs174537,rs174460 and rs174611 polymorphisms are associated with the risk of CAD,and they are susceptibility loci for CAD.