Huang Xiaohong, Ju Zhenyu, Song Yan, Zhang Hongye, Sun Kai, Lu Hongyan, Yang Zhiwei, Jose Pedro A, Zhou Gang, Wang Meng, Wang Weifeng, Feng Shixian, Hui Rutai
Sino-German Laboratory for Molecular Medicine, Fu Wai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences, 167 Beilishilu, 100037 Beijing, China.
J Mol Med (Berl). 2003 Nov;81(11):729-35. doi: 10.1007/s00109-003-0482-3. Epub 2003 Sep 16.
A C825T polymorphism of the gene encoding the G protein beta3 subunit (GNB3) is associated with enhanced G protein activity and increased intracellular signal transduction. The 825T allele has been implicated in the development of hypertension in some ethnic groups, especially in whites. Studies in Asians and blacks are more controversial, and little information is available on this polymorphism in the susceptibility to hypertension in the Chinese population. Furthermore, the inconsistency between studies may be due to genetic heterogeneity of the population selected and/or the lack of statistical power. We investigated the relationship of this polymorphism with hypertension in two independent northern Chinese populations using both a case-control and a family-based study design. The GNB3 C825T polymorphism was determined by polymerase chain reaction and restriction enzyme digestion. In the case-control study which included 585 hypertensive case subjects and 580 normotensive control subjects there was no significant association between the polymorphism and hypertension status or blood pressure levels. The lack of association was confirmed by the results obtained in 181 hypertensive families using both transmission disequilibrium test and sib transmission disequilibrium test. No preferential transmission was observed for the GNB3 825T allele to the affected subjects. Furthermore, there was no significant association between the polymorphism and body mass index in the case-control study. Therefore our work does not provide evidence in favor of GNB3 C825T being a candidate gene for conferring genetic susceptibility to hypertension or obesity in northern Chinese population.
编码G蛋白β3亚基（GNB3）的基因的C825T多态性与增强的G蛋白活性及增加的细胞内信号转导相关。825T等位基因在一些种族中，尤其是白人中，与高血压的发生有关。在亚洲人和黑人中的研究更具争议性，关于中国人群中该多态性与高血压易感性的信息很少。此外，研究结果的不一致可能是由于所选人群的遗传异质性和/或缺乏统计学效力。我们使用病例对照研究和基于家系的研究设计，在两个独立的中国北方人群中调查了这种多态性与高血压的关系。通过聚合酶链反应和限制性内切酶消化来确定GNB3 C825T多态性。在包括585例高血压病例受试者和580例血压正常对照受试者的病例对照研究中，该多态性与高血压状态或血压水平之间无显著关联。在181个高血压家庭中使用传递不平衡检验和同胞传递不平衡检验所获得的结果证实了这种缺乏关联的情况。未观察到GNB3 825T等位基因向患病受试者的优先传递。此外，在病例对照研究中，该多态性与体重指数之间无显著关联。因此，我们的研究工作没有提供证据支持GNB3 C825T是赋予中国北方人群高血压或肥胖遗传易感性的候选基因。
