高分辨率熔解曲线技术检测冠心病患者IL-6及其受体基因单核苷酸多态性

High resolution melting genotyping for detection of single nucleotide polymorphisms of IL-6and its receptor genes in patients with coronary heart disease

目的通过高分辨率熔解曲线(HRM)技术检测IL-6及其受体基因单核苷酸多态性(single nucleotide polymorphism,SNP),探讨IL-6及其受体基因SNP与冠心病(CHD)的相关性。方法用HRM曲线技术检测231例CHD患者和275例健康人IL-6及其受体基因6个SNP位点(IL-6-572C/G、IL-6-597A/G、IL-6-174C/G、IL-6R-183A/G、IL-6R-exon1C/A和IL-6R-exon2A/T),分析其与CHD的相关性。结果 CHD组和健康人对照组IL-6-572C/G、IL-6-597A/G、IL-6R-exon1C/A和IL-6R-exon2A/T基因频率、基因型频率差异有统计学意义(P均<0.05)。IL-6-572CC、IL-6-597GA和IL-6R-exon2AT基因型能增加发生CHD的风险(OR值分别为1.935、2.651、1.809);IL-6R-exon1CC基因型能降低CHD的发生风险(OR=0.514)。结论IL-6-572C/G、IL-6-597A/G、IL-6R-exon1C/A和IL-6R-exon2A/T与西北地区人群CHD易感性相关。

Objective To detect the single nucleotide polymorphisms （SNPs） of IL-6 and IL-6 receptor （IL-6R） genes by high resolution melting （HRM） and explore the correlation of the SNPs with coronary heart disease （CHD）. Methods PCR-HRM assay was developed for genotyping of the SNPs of IL-6-572C/G, IL-6-597A/G, IL-6-174C/G, IL-6R-183A/G, IL-6R-exonlC/A and IL-6R-exon2A/T and a case-control study between 231 CHD patients and 275 healthy controls was conducted. Results Significant differences were found in the gene and genotype frequencies of IL-6-572C/G, IL-6-597A/G, IL-6R-exonlC/A and IL-6R-exon2A/T between CHD patients and controls （P 〈 0.05 ）. The genotypes of IL-6-572CC, IL-6-597GA and IL-6R-exon2AT may increase the risk of CHD （ OR = 1. 935, 2.651, 1. 809 ）, but the genotype of IL-6R-exonl CC may reduce the risk （ OR = 0.514）. Conclusion 1L-6-572C/G, IL-6-597A/G, IL-6R-cxonlC/A and 1L-6R-exon2A/T mac associate with CHD susceptibility in population living in northwest China.