Zhang Yi, Zhang Kui-Xing, Wang Gu-Liang, Huang Wei, Zhu Ding-Liang
Ruijin Hospital, Shanghai Institute of Hypertension, State Key Laboratory of Medical Genomics, Shanghai Second Medical University, Shanghai 200025, China.
Acta Pharmacol Sin. 2003 Nov;24(11):1089-93.
To identify the genetic variants of angiotensin II type 2 receptor (AT2R) gene in a Chinese population and to determine whether the AT2R gene polymorphisms are associated with essential hypertension (EH).
The detection of single nucleotide polymorphisms (SNPs) was performed in 19 subjects by a direct DNA sequencing. Two hundred fifty patients with EH and 250 nomortensive controls were included in the study to assess the contribution of polymorphism of AT2R gene to hypertension.
We identified 9 SNPs in the promoter, intron, exons and 3' untranslated region (3'UTR) of AT2R gene; among them 5 SNPs were novel molecular variants. A case-control study using a most frequent SNP (1334T/C) in the promoter region, showed a significant increase in allele frequency of C1334 in male hypertensive subjects (17.5 % vs 10.3 % for normotensive subjects, P<0.05).
The catalogue of SNPs of AT2R gene in Chinese population showed ethnic difference in DNA sequence variation. A polymorphism in the promoter region (1334T/C) of AT2R gene might be involved in the development of hypertension in Chinese population.
鉴定中国人群中血管紧张素II 2型受体（AT2R）基因的遗传变异，并确定AT2R基因多态性是否与原发性高血压（EH）相关。
通过直接DNA测序对19名受试者进行单核苷酸多态性（SNP）检测。本研究纳入250例EH患者和250例血压正常的对照者，以评估AT2R基因多态性对高血压的影响。
我们在AT2R基因的启动子、内含子、外显子和3'非翻译区（3'UTR）中鉴定出9个SNP；其中5个SNP是新的分子变异。一项针对启动子区域中最常见的SNP（1334T/C）的病例对照研究显示，男性高血压患者中C1334等位基因频率显著增加（血压正常者为10.3%，高血压患者为17.5%，P<0.05）。
中国人群中AT2R基因的SNP目录显示出DNA序列变异的种族差异。AT2R基因启动子区域的多态性（1334T/C）可能与中国人群高血压的发生有关。
