α-内收蛋白基因及G蛋白β3亚单位基因多态与原发性高血压的关系

目的探讨α-内收蛋白（ADD1）基因G460W和G蛋白β3亚单位（GNB3）基因C825T多态与高血压的关系。方法 运用多聚酶链式反应-限制性内切酶片段长度多态分析方法（PCR-RFLP）对来自山东省青岛港的正常血压（495例）和高血压（256例）人群进行基因分型。结果 高血压组和对照组ADD1基因G460W和GNB3基因C825T多态型及等位基因频率分布均符合Hardy—Weinberg平衡。高血压患者中具有WW基因型个体的频率（35．2％）高于对照组（27．4％）,差异有统计学意义（X^2=4．768,P=0．029,OR=1．43）。在高血压组和对照组中GNB3基因CC、CT、TF基因型频率和C、T等位基因频率差异无统计学意义（基因型,P=0．755;等位基因,P：0．561）。结论 ADD1基因G460w多态可能是高血压的危险因素,460W等位基因可能与收缩压的增加有关,而GNB3基因C825T多态可能在高血压的发生中不起主要作用。

Association of alpha-adducin gene and G-protein beta3-subunit gene with essential hypertension in Chinese

OBJECTIVE: To investigate the relationship between the alpha-adducin (ADD1) gene G460W and the G-protein beta 3-subuint (GNB3) gene C825T polymorphisms and essential hypertension (EH) in a northern Chinese Han population. METHODS: Peripheral blood samples were collected from 256 hypertensive patients and 495 normotensive controls. Polymerase chain reaction combined with restriction enzyme digestion was used to detect the polymorphisms of ADD1 and GNB3 genes. Their body mass index, blood lipids, blood glucose and blood uric acid levels were also determined. RESULTS: The allele frequencies of the ADD1 gene G460W and the GNB3 gene C825T polymorphisms were in Hardy-Weinberg equilibrium. The WW frequency in the EH group was 35.2%, significantly higher than that in the normal group (27.4%, chi(2) = 4.768, P = 0.029, OR = 1.43). Adjusted for the conventional risk factors of hypertension, alpha-adducin polymorphism still played an independent role on systolic blood pressure. The genotypes CC, CT, and TT of the GNB3 gene in the EH group were 20%, 52%, and 28% respectively, not significantly different from those in the control group (21%, 53%, and 26% respectively, P = 0.755). The frequencies of the alleles C and T of the GNB3 gene C825T were 46% and 54% respectively, not significantly different from those of the normotensive controls (47% and 53% respectively, P = 0.561). Body mass index, blood lipids, and glucose level did not differ significantly among the three genotype groups in both EH and normotensive control groups. CONCLUSION: The alpha-adducin gene may be a susceptible gene to EH in northern Chinese Han population, however, the GNB3 gene C825T polymorphism may not play a significant role in EH in the same population.