高血压用药相关基因多态性在通辽地区高血压人群中的分布

摘要/Abstract

摘要： 目的分析通辽地区人群高血压用药相关7个基因的基因频率分布,为本地高血压患者的精准用药提供理论依据。方法选择2021年9月至2022年6月在通辽市内蒙古民族大学附属医院住院的401例原发高血压患者作为研究对象,通过连接酶介导的荧光探针技术检测与5大类降压药物（β受体阻滞剂、血管紧张素Ⅱ受体拮抗剂、血管紧张素转化酶抑制剂、利尿剂、钙离子拮抗剂）相关的7个基因的单核苷酸多态性。分析不同性别、民族、地域间患者基因频率差异。结果 401例高血压患者CYP2D6*10 、ADRB1（1165G>C）、CYP2C9*3、AGTR1（1166A>C）、ACE（I/D）、NPPA（T2238C）、CYP3A5*3基因的突变型等位基因频率分别为41.77%、73.82%、3.99%、4.99%、34.54%、1.25%、72.94%。不同性别间NPPA基因频率分布差异具有统计学意义（P<0.05）;不同民族间CYP2D6*10和CYP3A5*3基因频率分布差异具有统计学意义（P<0.05）;不同地域患者CYP2D6*10基因频率分布差异具有统计学意义（P<0.05）。结论通辽市高血压患者 CYP2D6*10、ADRB1（1165G>C）、CYP3A5*3基因突变频率较高,说明该地区人群使用β受体阻滞剂类药物和钙离子拮抗剂类药物效果较好,对临床医师选择合适的降压药具有一定参考价值。

关键词: 高血压用药相关基因, 基因多态性, 高血压, 个体化用药

Abstract: Objective To analyze the frequency distribution of seven antihypertensive drug-related genes in the population in Tongliao, China, and to provide a theoretical basis for the precise medication for local hypertensive patients. Methods A total of 401 hypertensive patients admitted to the AffiliatedHospitalofInner MongoliaUniversity for Nationalities in Tongliao from September 2021 to June 2022 were enrolled as study subjects. The ligase-mediated fluorescent probe technique was used to determine the single nucleotide polymorphisms of seven genes associated with five antihypertensive drugs (β-receptor blockers, angiotensin II receptor antagonists, angiotensin-converting enzyme inhibitors, diuretics, and calcium antagonists). The gene frequency differences were analyzed among patients of different sexes, nationalities, and regions. Results The mutant allele frequencies of CYP2D6*10, ADRB1(1165G>C), CYP2C9*3, AGTR1(1166A>C), ACE(I/D), NPPA(T2238C), and CYP3A5*3 of the 401 patients were 41.77%, 73.82%, 3.99%, 4.99%, 34.54%, 1.25%, and 72.94%, respectively. Significant differences were found in the NPPA gene frequency distribution between different sexes(P<0.05), in the CYP2D6*10 and CYP3A5*3 gene frequency distribution between different ethnic groups(P<0.05), and in the CYP2D6*10 gene frequency distribution between different regions (P<0.05). Conclusion The genes CYP2D6*10, ADRB1 (1165G>C), and CYP3A5*3 have a high mutation frequency in the hypertensive patients in Tongliao, indicating a good effect of β-receptor blockers and calcium antagonists in the population in this region. This providesa reference value for clinicians in choosing the right antihypertensive drugs.

Key words: Antihypertensive drug-related gene, Gene polymorphism, Hypertension, Individualized medication

姜秋丰, 风英, 白玉涵, 宫国华. 高血压用药相关基因多态性在通辽地区高血压人群中的分布[J]. 心血管病防治知识, 2023, 13(25): 27-32.

JIANG Qiu-feng, FENG Ying, BAI Yu-han, GONG Guo-hua. Distribution of antihypertensive drug-related gene polymorphisms in the hypertensive population in Tongliao, China[J]. Prevention and Treatment of Cardiovascular Disease, 2023, 13(25): 27-32.

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