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目的:在中国汉族人群中检测Ⅰ型血管紧张素Ⅱ受体(AT1)基因启动子区域的单核苷酸多态(SNPs),并探讨其与原发性高血压病(EH)及冠心病(CHD)的发病相关性。方法:应用PCR-直接测序法检测AT1基因启动子区域序列,在160例EH、128例CHD、185例EH合并CHD及160例健康对照者中,对所发现的SNPs进行基因分型和统计分析。结果:在AT1基因启动子区域共发现6个SNPs,其中-810A/T多态与另4个SNPs(-713G/T,-214A/C,213G/C和-153A/G)几乎呈完全的连锁不平衡,EH组与对照组相比,-810A/T多态的基因型和等位基因分布未达统计学差异,CHD组与对照组相比,-810A等位基因分布达到统计学临界值(x~2=3.649,P=0.056),810A/T多态的基因型分布在EH合并CHD组(TT=126,TA=51,AA=8)分别与EH组(TT=127,TA=26,AA=7,x~2=6.410,P=0.041)和对照组(TT=130,TA=24,AA=6,x~2=7.742,P=0.021)相比,均有显著性差异,EH合并CHD组的A等位基因频率显著高于对照组(0.181 vs 0.106,x~2=7.690,P=0.006)和EH组(0.181 vs0.125,x~2=4.119,P=0.042),携带TA基因型(OR=1.977,95％CT 1.160-3.354,P=0.011)或A等位基因(OR=1.548,95％(CI 1.015-2.361,P=0.043)的EH患者并发CHD的危险性显著增加。结论:本研究首次报道在中国汉族人群中,AT1基因-810A/T多态可能是EH合并CHD发病?
Objective: To detect single nucleotide polymorphisms (SNPs) in the promoter region of type Ⅰ angiotensin Ⅱ receptor (AT1) gene in Chinese Han population and to explore its relationship with essential hypertension (EH) and coronary heart disease (CHD) incidence of the correlation. Methods: The promoter region of AT1 gene was detected by PCR-direct sequencing. The SNPs detected were genotyped and statistically analyzed in 160 EH patients, 128 CHD patients, 185 EH patients with CHD and 160 healthy controls. . RESULTS: Six SNPs were found in the promoter region of AT1 gene, of which the -810A / T polymorphism was almost complete with the other four SNPs (-713G / T, -214A / C, 213G / C and -153A / G) The linkage disequilibrium between the EH group and the control group, -810A / T polymorphism in genotype and allele distribution was not statistically different, CHD group compared with the control group, -810A allele distribution reached the statistical critical (TT = 126, TA = 51, AA = 8) in the EH combined CHD group (TT = 127, TA = = 26, AA = 7, x ~ 2 = 6.410, P = 0.041) and the control group (TT = 130, TA = 24, AA = 6, x ~ 2 = 7.742, P = 0.021) (0.181 vs 0.106, x ~ 2 = 7.690, P = 0.006) and EH group (0.181 vs 0.125, x ~ 2 = 4.119, P = 0.042) ), CHD patients with EH who had TA genotype (OR = 1.977, 95% CT 1.160-3.354, P = 0.011) or A allele (OR = 1.548,95% (CI 1.015-2.361, P = 0.043) Risk increased significantly.Conclusion: This study was first reported in the Chinese Han population, AT1 gene -810A / T polymorphism may be the incidence of EH with CHD?