高血压病患者G蛋白β3基因C825T和eNOS基因G894T多态性研究

The GNB3 and eNOS gene polymorphisms in patients with essential hypertension

目的 观察高血压病 (EH)患者G蛋白 β3亚单位基因 (GNB3)C82 5T多态性和内皮一氧化氮合酶 (eNOS)基因G894T多态性 ,探讨EH发生的遗传学机制。方法 EH患者 112例 ,对照组 112例。取血标本提取DNA ,用PCR方法扩增目的基因 ,用限制性内切酶 (BanⅡ、BseDI)酶切PCR产物用于基因分型。结果 EH患者GNB3C82 5T基因型分布 (基因型频率CC =0 34,CT =0 5 3 ,TT =0 13)与对照组有显著性差异 (基因型频率CC =0 5 9,CT =0 36 ,TT =0 0 5。χ2 =6 9,P <0 0 5 ) ;82 5T等位基因携带者与CC纯合子比较有较高的患EH的危险 (OR =2 2 ,95 %CI1 1～ 4 6 )。eNOS各基因型在EH的分布与对照组无显著性差异。Logistic回归分析显示 ,GNB3 82 5T等位基因与EH关联最密切。结论GNB3基因C82 5T多态性的 82 5T等位基因是EH发病的遗传危险因子。eNOS基因G894T多态性在EH发病中不起直接重要作用。

Objective To explore the genetic variation in essential hypertension (EH). A polymorphism at position C825T of the gene that encodes the G protein β3 subunit(GNB3) and at position G894T of the endothelial NO synthase (eNOS) gene were analyzed in hypertensives. Methods One hundred and twelve patients with EH and matched controls were selected. Genotypes of the polymorphisms were determined by polymerase chain reaction (PCR) and the PCR products were digested by restriction endonucleases(BanII?BseDI). Results Genotype distribution for the GNB3 C825T genotype was significantly different between the patients with EH(CC=0.34, CT=0.53, TT=0.13) and the controls (CC=0.59, CT=0.36, TT=0.05, χ2=6.9, P<0.05),and the 825T allele was associated with EH onset (OR=2.2, 95%CI 1.1 to 4.6). There was not significantly difference in genotype distribution for the eNOS gene G894T genotype between the patient groups and the controls. Conclusion GNB3 825T allele may be a risk factor to EH. The polymorphism of eNOS gene G894T may be not play an important and direct role in the pathogenesis of EH.