Angiotensin-converting enzyme gene polymorphism and its association with essential hypertension in a Tibetan population
Angiotensin-converting enzyme gene polymorphism and its association with essential hypertension in a Tibetan population
复制标题
DOI：
10.1291/hypres.25.481
复制
发表时间：
2002-05-01
影响因子：
5.4
通讯作者：
Chan, Y
中科院分区：
文献类型：
--
作者：
Gesang, L;Liu, GZ;Chan, Y
大量证据表明，肾素-血管紧张素系统（RAS）在原发性高血压（EH）及其并发症的发病机制中起重要作用。然而，血管紧张素转换酶（ACE）基因插入/缺失（I/D）多态性与血压相关性的现有数据是相互矛盾的，主要是由于种族差异和环境暴露状况。因此，我们进行了病例对照研究，观察ACE I/D多态性与高血压的关系，在藏族人群中生活在相对孤立的地区，遗传同质。本研究在中国西藏自治区首府拉萨市区稳定的居民社区进行，招募了106名无关的EH患者和135名血压正常的受试者。采用PCR、PCR/RFLP、PCR-SSCP等方法研究RAS基因与EH的关系。DD、ID和II基因型频率在高血压患者中分别为27、47和29，在正常血压患者中分别为15、60和48。推导出的等位基因频率为I和D等位基因分别为0.51和0.49高血压患者和0.64和0.36正常血压受试者。两组间基因型分布及衍生等位基因频率差异有统计学意义。ACE基因的基因型和等位基因频率在女性高血压组和正常血压组间差异有统计学意义（p>0.05），而在男性组间差异无统计学意义。在女性中，DD型的DBP和MAP水平显著高于ID和II型，DD型的SBP显著高于II型。而在男性中，ACE基因型间血压差异无统计学意义。结果表明，ACE基因D等位基因与藏族女性高血压有显著相关性，而与藏族男性无显著相关性。
There is strong evidence to support the idea that the renin-angiotensin system (RAS) plays an important role in the pathogenesis of essential hypertension (EH) and its complications. However, existing data about the association of angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism with blood pressure is conflicting, mainly due to racial differences and environmental exposure status. We therefore conducted a case control study to observe the relationship between ACE I/D polymorphism and EH in a Tibetan population who live in relatively isolated areas and are genetically homogeneous. The study was conducted at stable residential communities in the urban district of Lhasa, the capital of the Tibet autonomous region, China, and 106 unrelated EH patients and 135 normotensive subjects were recruited. PCR, PCR/RFLP and PCR-SSCP were carried out to study the association between RAS genes and EH. Frequencies for the DD, ID and II genotypes were 27, 47 and 29 in hypertensive subjects, and 15, 60 and 48 in normotensive subjects, respectively. Derived allele frequencies for the I and D alleles were 0.51 and 0.49 in hypertensive subjects and 0.64 and 0.36 in normotensive subjects. There were significant differences in genotype distribution and derived allele frequency between these two groups. The genotype and allele frequencies of the ACE gene differed significantly between hypertensive and normotensive females (p>0.05), but there were no differences in males. In females, the DBP and MAP level were significantly higher for the DD than for the ID and II genotype, and SBP was significantly higher for the DD than for the II genotype. But in males, there were no significant differences in blood pressure among ACE genotypes. The results showed a significant association between the D allele of the ACE gene and hypertension in Tibetan women but not in Tibetan men.