胱抑素C rs1064039位点单核苷酸基因多态性与冠心病的相关性研究

Correlation between single nucleotide polymorphisms at rs1064039 site of CST3 gene with coronary heart disease

目的:通过研究胱抑素C基因(CST3)rs1064039位点单核苷酸多态性(SNP),揭示其与冠心病的相关性。方法:采用病例-对照研究,选择上海市静安区中心医院心内科疑似冠心病入院的汉族530例患者为研究对象,依据冠状动脉(冠脉)造影结果分为冠心病组(320例)及对照组(210例)。提取外周血白细胞基因组DNA,应用巢式PCR直接测序技术检测CST3rs1064039位点SNP,分析该位点的基因型及等位基因频率与冠心病的相关性,及其与血胱抑素C水平的关系。结果:汉族人群中CST3基因rs1064039位点存在G/A突变,存在GG、GA和AA 3种基因型,GG型为野生基因型,无论等位基因频率或者基因型分布在冠心病及对照组均无明显差异;CST3rs1064039位点野生型纯合子携带者血胱抑素C在全体人群和对照组中的水平明显高于突变型携带者,但这种差别在冠心病组消失。结论:汉族人群中CST3基因rs1064039位点的基因多态性与冠心病发病无直接相关性,而与血胱抑素C水平相关。

Objective：To investigate single nucleotide polymorphisms（SNP）at rs1064039 site of the CST3 gene and to analyze the correlation with coronary heart disease（CHD）. Method： A case-control study was conducted in 530 suspected Chinese Han patients with CHD who were divided into CHD group （320 cases） and control group （210 cases） according to angiography coronary. The genomic DNA of leukocytes was extracted from venous blood and the nested PCR- Direct sequencing technique was used to detect SNP at rs1064039 site of CST3 gene. Result： There was G/A mutations at the rs1064039 locus of CST3 gene in Han population, GG, GA and AA genotypes exiting, however the allele frequencies and genotype distribution had no significant difference in CHD and control group. The serum cystatin C levels of homozygous wild-type carriers were significantly higher than that of muta- tion carriers in control group, although this difference disappeard in CHD group. Conclusion： Among the nationali- ty the SNPs of CST3 gene at rsi064039 has no direct correlation with CHD, but it is associated with serum cystatin C level.