太原市某医院361例高血压病用药相关基因多态性特征分析

Profile of gene polymorphisms related to anti-hypertensive medication in 361 patients from a Taiyuan hospital

目的描述太原市某院高血压患者的抗高血压药物相关基因分布特征,为该地区高血压病个体化治疗提供参考。方法选取2019年1月至2021年3月在太原市中心医院进行抗高血压药物相关基因检测的患者作为研究对象。通过信息系统获取相关信息,采用SPSS 24.0进行数据统计,Hardy-Weinberg平衡吻合度检验及χ^(2)检验分析抗高血压药物基因型与其他地区基因多态性分布特点比较,同时对相关病历进行合理用药点评,分析应用基因检测结果调整药物治疗情况。结果该院361例高血压病患者的基因检测,对应的CYP2D6*10、ADRB1(1165G>C)、CYP2C9*3、AGTR1(1166A>C)、ACE(I/D)突变率为49.0%、75.1%、3.3%、6.8%、36.3%;以上基因位点突变在不同性别之间差异无统计学意义;与其他研究地区比较时除ACE(I/D)位点存在差异外,其他位点均无差异。该院进行抗高血压药物基因检测的患者分布情况为门诊患者占5.8%,住院患者占94.2%,住院患者中结合检测结果需要用药调整的占比为18.5%,经过用药方案调整后,其降压效果均有明显改善。结论与国内其他省份研究数据相比,太原地区人群对β受体阻滞剂的反应较为敏感,对血管紧张素转化酶抑制剂、血管紧张素Ⅱ受体拮抗剂的反应属正常水平,根据基因型调整降压药物,可以提高治疗疗效,具有一定的临床推广意义。

Objective To investigate the characteristics of gene distribution related to antihypertensive medication among hypertensive patients from a hospital in Taiyuan,and to provide evidence for individualized treatment of hypertension in this region.Methods Patients who underwent antihypertensive drug-related gene testing in Taiyuan Central Hospital between January 2019 and March 2021 were included as study subjects.Relevant data of these subjects was obtained through the hospital information system.SPSS 24.0,Hardy-Weinberg eguilibrium and Chi-square test was used for statistical processing of data on antihypertensive drug-related genotypes,and the distribution characteristics of gene polymorphisms were compared with those in other regions.Meanwhile,medical records of these subjects were reviewed to assessthe rationality in drug use.The results of medication as adjusted according to gene testing were analyzed.Results The results of gene testing in 361 hypertensive patients in this hospital were linked to genotypes CYP2D6*10,ADRB1(1165G>C),CYP2C9*3,AGTR1(1166A>C)and ACE(I/D),corresponding to the mutation rates of 49.0%,75.1%,3.3%,6.8%,and 36.3%,respectively.There was no significant differences in the mutation of these gene loci between genders.Compared with other regions,there were no differences in these gene loci except for the ACE(I/D).The type of patients undergoing gene testing for antihypertensive drugs in this hospital consisted of outpatients(5.8%)and inpatients(94.2%).18.5%of the inpatients who need adjustment of medications according to gene testing,which led to significantly improved efficacy in lowering the blood pressure.Conclusion Compared with the research data from other Chinese provinces,the population in Taiyuan of Shanxi province is more responsive to beta-blockers,and comparably responsive to angiotensin-converting enzyme inhibitors and angiotensinⅡreceptor antagonists.Adjustment of antihypertensive medications according to genotype can improve the therapeutic efficacy and therefore is clinically worthwhile.