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中国临床药理学与治疗学 ›› 2024, Vol. 29 ›› Issue (1): 68-75.doi: 10.12092/j.issn.1009-2501.2024.01.007

• 临床药理学 • 上一篇    下一篇

高血压药物基因多态性分析对安徽皖南地区高血压患者个体化治疗的参考价值

万淑君1，2，张梦莹1，2，陈其雷3，钟  民1，2，朱小龙1，2，张莺莺1，2，吕  坤1，2   

  1. 1非编码RNA基础与临床转化安徽省重点实验室（皖南医学院），2皖南医学院弋矶山医院中心实验室，芜湖  241001，安徽；3南京医科大学附属江宁医院皮肤性病科，南京  211100，江苏

  • 收稿日期:2023-07-14 修回日期:2023-10-16 出版日期:2024-01-26 发布日期:2024-01-15
  • 通讯作者: 吕坤，男，博士，教授，研究方向：免疫分子学。 E-mail: lvkun315@126.com
  • 作者简介:万淑君，女，硕士，中级检验技师，研究方向：免疫分子学。 E-mail: wanwan901226@163.com
  • 基金资助:
    国家自然科学基金（82072370）；芜湖市科技局应用基础研究（2022jc66）

Clinical value of genetic polymorphism analysis of hypertension drugs for individualized treatment of hypertension patients in the southern Anhui region

WAN Shujun1,2, ZHANG Mengying1,2, CHEN Qilei3, ZHONG Min1,2, ZHU Xiaolong1,2, ZHANG Yingying1,2, LV Kun1,2   

  1. 1 Anhui Province Key Laboratory of Non-coding RNA Basic and Clinical Transformation (Wannan Medical College); 2 Central Laboratory of Yijishan Hospital, Wannan Medical College, Wuhu, Anhui 241001, China; 3 Department of Dermatology, Jiangning Hospital Affiliated to Nanjing Medical University, Nanjing 211100, Jiangsu, China
  • Received:2023-07-14 Revised:2023-10-16 Online:2024-01-26 Published:2024-01-15

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摘要：

目的：分析皖南地区高血压患者β受体阻滞剂、血管紧张素受体拮抗剂（ARB）、血管紧张素转换酶抑制剂（ACEI）、钙离子拮抗剂及利尿剂药物基因多态性分布频率，为高血压药物基因检测工作和个性化用药提供理论依据。方法：搜集2021年7月至2023年4月皖南医学院弋矶山医院839例高血压住院患者药物基因检测信息，分析各基因位点分布频率。结果：ACE（I/D）I/I、I/D及D/D基因型频率分别为42.1%、46.0%、11.9%；肾上腺素能受体β1（ADRB1）（1165G>C）G/G、G/C及C/C基因型频率分别为8.3%、40.0%、51.6%；血管紧张素II受体1（AGTR1）（1166A>C）A/A、A/C及C/C基因型频率分别为90.2%、9.8%、0.0%；CYP2C9*3（1075A>C）*1/*1、*1/*3及*3/*3基因型频率分别为91.3%、8.7%、0.0%；CYP2D6*10（100C>T）*1/*1、*1/*10及*10/*10基因型频率分别为25.0%、36.6%、38.4%；CYP3A5*3（6986A>G）*1/*1、*1/*3及*3/*3基因型频率分别为7.0%、39.0%、54.0%；钠尿肽前体蛋白A（NPPA）（2238T>C）T/T、T/C及C/C基因型频率分别为97.9%、2.1%、0.0%。此外，皖南地区多个药物相关基因位点基因型分布频率与中国其他地区存在统计学差异（P<0.05）。结论：皖南地区高血压药物相关基因位点基因型分布频率具有一定偏向性，且与中国其他地区相比存在统计学差异，提示开展高血压药物基因多态性检测对皖南地区高血压药物个体化应用具有一定指导意义。

关键词: 高血压药物, 药物代谢酶基因, 药物作用靶点基因, 基因多态性, 个体化用药

Abstract:

AIM: To analyze the distribution frequency of gene polymorphisms of β receptor blockers, angiotensin receptor antagonists, angiotensin converting enzyme inhibitors, calcium antagonists, and diuretics in hypertensive patients from southern Anhui province, and provide a theoretical basis for gene detection of hypertension drugs and personalized medication. METHODS: Drug gene testing information from 839 hospitalized patients with hypertension at Yijishan Hospital of Wannan Medical College from July 2021 to April 2023 were collected, and  the distribution frequency of each gene locus were analyzed. RESULTS: The genotype frequencies of ACE (I/D) I/I, I/D, and D/D were 42.1%, 46.0%, and 11.9%, respectively. the genotype frequencies of ADRB1 (1165G>C) G/G, G/C, and C/C were 8.3%, 40.0%, and 51.6%, respectively. The genotype frequencies of AGTR1 (1166A>C) A/A, A/C, and C/C were 90.2%, 9.8%, and 0.0%. The genotype frequencies of CYP2C9*3 (1075A>C) *1/*1, 
*1/*3, and *3/*3 were 91.3%, 8.7%, and 0.0%, respectively; the genotype frequencies of CYP2D6* 10 (100C > T) *1/*1, *1/*10, and *10/*10 were 25.0%, 36.6%, and 38.4%, respectively. The genotype frequencies of CYP3A5*3 (6986A>G) *1/*1, 
*1/*3, and *3/*3 were 7.0%, 39.0%, and 54.0%, respectively. The frequencies of NPPA (2238T>C) T/T, T/C, and C/C genotypes were 97.9%, 2.1%, and 0.0%, respectively. In addition, there was a significant difference in the genotype distribution frequency of multiple drug related gene loci in southern Anhui compared to other regions in China (P<0.05). CONCLUSION: The genotype distribution frequency of hypertensive drug related gene loci had certain bias in southern Anhui, and were significant different from other regions in China, indicating that conducting genetic polymorphism testing of hypertensive drugs had certain guiding significance for the individualized application of hypertensive drugs in southern Anhui. 

Key words: hypertensive drugs, drug metabolism enzyme genes, target genes of drug, genetic polymorphism, individualized medication

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