抗高血压药物相关基因多态性在中国汉族人群中的分布与检测

摘要

Objective To study the distribution of polymorphisms of antihypertensive drug related genes in Chinese Han population. Methods Genotype analysis was performed using gene microarray of antihypertensive drug related genes. The allelic frequency of the β-receptor block, AT1-receptor antagonism and ACE inhibitors was determined in a group of 220 healthy subjects and in a group of 334 hypertension patients. Results In the 554 Chinese Han subjects, the frequency of CYP2C9 * 3, AGTR1 (1166A > C), ADRB1 (1165G > C), ACE(I/D), and CYP2D6 * 10 mutant allele was 4. 96% , 5. 87% ,71. 84% ,33. 22% and 56.41% .respectively. The allelic frequency of AGTR1 ( 1166A > C) in the 334 hypertensive patients was statistically lower than in the 220 healthy subjects. Conclusion Among the 334 hypertensive patients,the allelic frequency of CYP2C9 *3,AGTR1( 1166A >C) and CYP2D6 * 10 in Chinese females was statistically higher than in Chinese males.%目的 研究抗高血压药物相关基因在中国汉族人群的分布.方法 采用基因芯片法对β1受体阻断剂、血管紧张素Ⅱ受体抑制剂、血管紧张素转换酶抑制剂相关的5个基因多态位点(CYP2C9*3、ADRB1、AGTR1、CYP2D6*10和ACE)进行检测分型,研究分析我国高血压患者和健康受试者基因型频率分布及高血压男性患者与女性患者的基因型频率分布.结果 554例中国汉族人群(334例原发性高血压患者和220名健康志愿者)CYP2C9*3突变率为4.96％,AGTR1(1166A＞C)为5.87％,ADRB1(1165G＞ C)为71.84％,ACE(I/D)为33.22％,CYP2D6*10为56.41％；高血压患者的AGTR1(1166A ＞C)突变率显著低于健康受试者(P＜0.05),CYP2C9*3、CYP2D6*10、ADRB1(1165G＞C)和ACE(I/D)突变率两组比较无显著性差异.结论 高血压患者的AGTR1(1166A＞ C)基因突变率显著低于健康受试者；女性高血压患者的CYP2C9*3、AGTR1(1166A＞ C)和YP2D6*10突变率显著高于男性患者.