【摘要】 目的:在中国华东地区汉族人群中检测Ⅰ型血管紧张素Ⅱ受体(AT1)基因启动子区单核苷酸多态(SNPs)的分布,并研究其与原发性高血压合并冠心病的关系。方法:运用PCR直接测序法检测AT1基因启动子区,并对160例原发性高血压、151例冠心病、185例原发性高血压合并冠心病及160名健康对照者进行基因分型。结果:在AT1基因启动子区共发现6个SNPs,属同一单倍域,其中-810T/A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。-810T/A多态的基因型和等位基因分布在原发性高血压组与对照组间无统计学差异。冠心病组与对照组相比,-810T/A多态的基因型(χ2=3.588,P=0.058)和等位基因(χ2=3.769,P=0.052)分布均达到统计学临界值。-810T/A多态的基因型分布在原发性高血压合并冠心病组(TT=126,TA+AA=59)分别与原发性高血压组(TT=127,TA+AA=33,χ2=5.569,P=0.018)和对照组(TT=130,TA+AA=30,χ2=7.741,P=0.005)相比,差异均有显著性。原发性高血压合并冠心病组的A等位基因频率显著高于对照组(0.181比0.106,χ2=7.690,P=0.006)和原发性高血压组(0.181比0.125,χ2=4.119,P=0.042)。结论:AT1基因-810T/A多态可能是中国华东地区汉族人群原发性高血压合并冠心病的遗传危险因素。更多还原

【Abstract】 Objective To investigate the distribution of the single nucleotide polymorphisms (SNPs) in the promoter region of angiotensin Ⅱtype 1 receptor (AT1) gene in east China Han population, and further to ascertain their relationship with coronary heart disease (CHD) in essential hypertension (EH). Methods SNPs detection was performed by PCR-sequencing. The genotypes were determined in 160 EH cases, 151 CHD cases and 185 EH complicated with CHD cases as well as 160 healthy controls. Results Six SNPs were discovered to belong to one haplotype block, among which -810T/A polymorphism was almost in the complete linkage disequilibrium with -713G/T, -214A/C, -213G/C and -153A/G polymorphisms. No statistical association was found between -810T/A polymorphism and EH, while the association of -810T/A polymorphism and CHD was of borderline significance. There were significant differences in the genotype distributions between the EH patients with CHD (TT=126, TA+AA=59) and the EH patients (TT=127, TA+AA=33, χ2=5.569, P=0.018) or the healthy controls (TT=130, TA+AA=30, χ2 =7.741, P=0.005). The EH patients with CHD had a significantly higher allele A frequency than the controls (0.181 vs 0.106, χ2=7.690, P=0.006) and the EH subjects (0.181 vs 0.125, χ2=4.119, P=0.042). Conclusions The -810T/A polymorphism of AT1 gene appears to be a genetic risk factor for EH with CHD in east China Han population.更多还原