潮州地区原发性高血压患者抗高血压药物相关基因多态性分析  

Genetic polymorphism of antihypertensive drugs associated gene among patients with essential hypertension in Chaozhou area

作　　者：林芬 吴泳浩 许嘉欣 张琳 杨立业 LIN Fen;WU Yonghao;XU Jiaxin;ZHANG Lin;YANG Liye(Central Laboratory,Chaozhou Central Hospital Affiliated to Southern Medical University,Chaozhou,Guangdong 521021,China)

机构地区：[1]南方医科大学附属潮州中心医院中心实验室,广东潮州521021

出　　处：《检验医学与临床》2020年第23期3420-3424,共5页Laboratory Medicine and Clinic

基　　金：潮州市科技计划项目(2017GY49);潮州市卫生和计划生育局科研项目(201823)。

摘　　要：目的了解抗高血压药物相关基因[细胞色素P450家族成员2C9(CYP2C9)、β1-肾上腺素能受体(ADRB1)、血管紧张素Ⅱ受体1(AGTR1)、细胞色素P450家族成员2D6(CYP2D6)和血管紧张素转换酶(ACE)]多态性位点在潮州地区原发性高血压患者中的分布情况。方法选取2013年3月至2018年4月在该院就诊的325例原发性高血压患者作为研究对象,采用PCR扩增、琼脂糖凝胶电泳及基因测序对原发性高血压患者CYP2C9:c.1075A>C、ADRB1:c.1165G>C、AGTR1:c.1166A>C、CYP2D6:c.100C>T和ACE:I/D 5个基因多态性位点进行分析,并比较男、女性基因型频率和等位基因频率的分布情况。结果325例原发性高血压患者CYP2C9:c.1075A>C等位基因频率为A 96.3%、C 3.7%;ADRB1:c.1165G>C等位基因频率为G 73.8%、C 26.2%;AGTR1:c.1166A>C等位基因频率为A 94.2%、C 5.8%;CYP2D6:c.100C>T等位基因频率为C 60.9%、T 39.1%;ACE:I/D等位基因频率为I 70.2%、D 29.8%,男、女性原发性高血压患者各基因多态性位点的等位基因频率比较,差异无统计学意义(P>0.05)。结论潮州地区原发性高血压患者CYP2C9:c.1075A>C、ADRB1:c.1165G>C、AGTR1:c.1166A>C、CYP2D6:c.100C>T和ACE:I/D基因多态性分布与性别无关,原发性高血压患者进行抗高血压药物相关基因的检测,可指导原发性高血压患者的合理安全用药。Objective To investigate the genetic polymorphism of cytochrome P450 family 2C9(CYP2C9),β1-adrenoceptor(ADRB1),angiotensinⅡreceptor type 1(AGTR1),cytochrome P450 family 2D6(CYP2D6)and angiotensin converting enzyme(ACE)among patients with essential hypertension in Chaozhou area.Methods 325 patients with essential hypertension who visited the hospital from March 2013 to April 2018 were selected as study subjects.PCR amplification,agarose gel electrophoresis and gene sequencing were used to analyze the polymorphism sites of CYP2C9:c.1075A>C,ADRB1:c.1165G>C,AGTR1:c.1166A>C,CYP2D6:c.100C>T and ACE:I/D in patients with essential hypertension.The distributions of genetype frequency and allele frequency of male and female were compared.Results The allele frequencies of CYP2C9:c.1075A>C were A 96.3%,C 3.7%;ADRB1:c.1165G>C were G 73.8%,C 26.2%;AGTR1:c.1166A>C were A 94.2%,C 5.8%;CYP2D6:c.100C>T were C 60.9%,T 39.1%and ACE:I/D were I 70.2%,D 29.8%respectively.There was no statistical difference for allele frequency of five polymorphisms between male and female patients(P>0.05).Conclusion The results demonstrate that genetic polymorphism distribution of CYP2C9:c.1075A>C,ADRB1:c.1165G>C,AGTR1:c.1166A>C,CYP2D6:c.100C>T and ACE:I/D were found no correlation with gender among patients with essential hypertension in Chaozhou.The results of genetic polymorphism detecting may be useful for guiding safe and rational drug use in EH patients.

关 键 词：原发性高血压 基因多态性 潮州地区 

分 类 号：R544.1[医药卫生—心血管疾病]