G蛋白β3亚单位基因C825T多态性与高血压发病的关系

The relationship between G-protein β3 subunit gene C825T polymorphism and the pathogenesis of essential hypertension

目的 观察高血压病 (EH)病人G蛋白 β3亚单位基因 (GNB3 )C82 5T多态性 ,探讨EH发生的遗传学机制。 方法 EH病人 112例 ,设对照组。取血标本提取DNA ,用PCR方法扩增目的基因 ,用限制性内切酶 (BseDⅠ )酶切PCR产物用于基因分型 ,同时观察血脂、体质量指数 (BMI)、EH家族史。结果 EH病人GNB3C82 5T基因型分布 (基因型频率CC =0 .3 4,CT =0 .5 3 ,TT =0 .13 )与对照组有显著差别 (基因型频率CC =0 .5 9,CT =0 .3 6,TT =0 .0 5。 χ2 =6.9,P <0 0 5 ) ;Logis tic回归分析显示 ,C82 5T等位基因与EH关联最密切 (OR =2 .2 ,95 %CI 1.1～ 4.6)。结论 GNB3基因C82 5T多态性的T等位基因是EH发病的遗传危险因子。

Objective To explore the genetic mechanism of essential hypertension (EH) by means of observation of the polymorphism at position C825T of the gene that encodes the G protein β3 subunit (GNB3). Methods A total of 112 patients with EH and the matched control were selected. DNA was extracted from blood sample. Genotypes of the polymorphisms were determined by polymerase chain reaction (PCR) and the PCR products were digested by restriction endonuclease ( Bse DⅠ). Blood lipid, body mass index(BMI) and family history of EH patients were observed. Results There was significant difference in genotype distribution for the GNB3 C825T genotype between patients with EH (CC=0 34, CT=0 53, TT=0 13) and the controls (CC=0 59, CT=0 36, TT=0 05, χ 2=6 9, P <0 05). Logistic regression analysis showed that the 825T allele was associated with higher risk of EH (OR=2 2, 95%CI 1 1 to 4 6). Conclusion GNB3 825T allele is a risk factor for the pathogenesis of EH.