广东汉族原发性高血压患者CYP2C9和ACE基因多态性的分布特征

目的:观察沙坦类药物代谢酶细胞色素氧化酶P450 2C9(CYP2C9)基因的多态性和血管紧张素Ⅰ转换酶(angiotension I-coverting enzyme,ACE)基因的多态性在广东汉族原发性高血压(essential hypertension,EH)患者中的分布特征。方法:应用PCR、基因测序及琼脂糖凝胶电泳等方法,对206例EH患者CYP2C9和ACE基因型进行检测分析。结果:广东汉族EH患者中CYP2C9基因的1075位C等位基因的频率为3.2%,广东汉族EH患者中CYP2C9*3等位基因的频率与广东人群相比,无显著性差异;ACE基因D、I等位基因的频率分别为56.3%和43.7%。ACE基因的D等位基因频率显著高于广东及国内其他地区正常人群中的频率(P0.05)。结论:在广东汉族EH患者中,未发现CYP2C9*3等位基因与EH有关,而ACE基因的D等位基因可能和EH有关,同时,对EH患者进行CYP2C9和ACE基因的基因型的检测,可能对临床个体化降压治疗具有一定的指导意义。

Genetic polymorphism of CYP2C9 and angiotension I-converting enzyme genes in Guangdong Han patients with essential hypertension

AIM: To investigate the genetic polymorphism of cytochrome P450 (CYP) 2C9 and angiotension I-converting enzyme genes (ACE) in Chinese Han patients with essential hypertension (EH) in Guangdong Province. METHODS: Polymerase chain reaction (PCR) and gene sequence detection were used to detect CYP2C9 and ACE genotypes in 206 EH cases in Guangdong Chinese Han patients. RESULTS: In the 206 EH patients, frequency distribution of 1 075 C for CYP2C9*3 was 3.2%, and no significant difference was observed in the allelic frequencies of CYP2C9*3 between Guangdong Chinese Han patients with EH and Guangdong population. Allelic frequencies of D and I in ACE gene were 56.3% and 43.7%, respectively, and D allelic frequency in ACE gene in Guangdong Chinese Han patients with EH was significantly higher than in healthy populations in Guangdong and other areas in China (P<0.05). CONCLUSIONS: In Chinese Han patients with EH in Guangdong, we did not find that the CYP2C9*3 allele was associated with EH. Otherwise, D allele of the ACE gene is likely in association with EH. Detecting the genotypes of CYP2C9 gene and ACE gene in EH patients may be helpful to individual clinical antihypertensive therapy.