Zhang Kui-xing, Liu Tong-bao, Xu Qiu-xia, Zhu Ding-liang, Huang Wei
Department of Cardiology, Shandong Provincial Hospital, Jinan 250021, China.
Zhonghua Xin Xue Guan Bing Za Zhi. 2005 Aug;33(8):720-3.
To identify the genetic variants of angiotensin II type 1 receptor (AT1) gene in a population of Han ethnicity in east China and to determine whether the AT1 gene polymorphisms are associated with essential hypertension (EH) and coronary heart disease (CHD).
The detection of single nucleotide polymorphisms (SNPs) was performed in 20 subjects by a direct DNA sequencing. All 213 EH patients, 171 patients of EH with CHD and 200 controls were genotyped by three detected SNPs.
Eight positive SNPs were detected in the promoter, exon and 3' untranslated region (3'UTR) of AT1 gene. A case-control study by using a frequent SNP (A-153G) in the promoter region, showed a significant increase in allele frequency of G-153 in the subjects of EH complicated with CHD (17.8% vs 11.5% for normal controls, P < 0.05). The SNP A1166C, which has been widely studied, manifested no difference in the three groups.
A polymorphism in the promoter region (A-153G) of AT1 gene might be involved in the development of EH and CHD in Han ethnicity population in east China.
鉴定中国东部汉族人群中血管紧张素II 1型受体（AT1）基因的遗传变异，确定AT1基因多态性是否与原发性高血压（EH）和冠心病（CHD）相关。
通过直接DNA测序对20名受试者进行单核苷酸多态性（SNP）检测。对213例EH患者、171例合并CHD的EH患者和200名对照者进行3个检测SNP的基因分型。
在AT1基因的启动子、外显子和3'非翻译区（3'UTR）检测到8个阳性SNP。利用启动子区一个常见SNP（A-153G）进行病例对照研究，结果显示合并CHD的EH患者中G-153等位基因频率显著升高（正常对照为11.5%，合并CHD的EH患者为17.8%，P<0.05）。已被广泛研究的SNP A1166C在三组中未表现出差异。
AT1基因启动子区（A-153G）的多态性可能与中国东部汉族人群中EH和CHD的发生有关。
