高血压药物相关靶向基因检测的临床研究进展

韩晶, 滕乐, 李向辉, 丁妍

武警医学 ›› 2024, Vol. 35 ›› Issue (7) : 635-638.

PDF(928 KB)
PDF(928 KB)
武警医学 ›› 2024, Vol. 35 ›› Issue (7) : 635-638.
综述

高血压药物相关靶向基因检测的临床研究进展

  • 韩晶1, 滕乐2, 李向辉3, 丁妍4
作者信息 +
文章历史 +

摘要

高血压是一种多基因、多因素的复杂疾病,其中遗传因素占个体化差异的30% ~50%。高血压药物的降压效果和不良反应与药物代谢酶基因、受体基因和其他药物作用靶点基因的变异密切相关。本文综述了高血压治疗中CYP2D6、ADRB1、CYP2C9、AGTR1、ACE的药物基因组学在预测疗效和不良反应中的作用机制,这有助于帮助患者选择合适的降压药和制定个性化的治疗方案,并展望了高血压药物基因组学的未来发展前景,为高血压患者基于基因检测的精准用药提供依据。

关键词

高血压 / 靶向基因检测 / 个体化用药

引用本文

导出引用
韩晶, 滕乐, 李向辉, 丁妍. 高血压药物相关靶向基因检测的临床研究进展[J]. 武警医学. 2024, 35(7): 635-638
中图分类号: R544.1   

参考文献

[1] Cooper-Dehoff R M, Johnson J A. Hypertension pharmacogenomics: in search of personalized treatment approaches [J]. Nat Rev Nephrol, 2016, 12(2): 110-122.
[2] Johnson J A. Advancing management of hypertension through pharmacogenomics [J]. Ann Med, 2012, 44(1): 17-22.
[3] Chen L, Xiao T, Chen L, et al. The association of ADRB1 and CYP2D6 polymorphisms with antihypertensive effects and analysis of their contribution to hypertension risk [J]. Am J Med Sci, 2018, 355(3): 235-239.
[4] Manosroi W, Williams G H. Genetics of human primary hypertension: focus on hormonal mechanisms [J]. Endocr Rev, 2019, 40(3): 825-856.
[5] Padmanabhan S, Dominiczak A F. Genomics of hypertension: the road to precision medicine [J]. Nat Rev Cardiol, 2021, 18(4): 235-250.
[6] 任国庆, 易天骄, 赵友云, 等. 原发性高血压药物相关基因的多态性研究进展 [J]. 中国医药导报, 2021, 18(35): 50-53, 67.
[7] Chen K, Li Y, Yang C, et al. CYP2D6 and ADRB1 genetic polymorphisms and the selection of antihypertensive beta-receptor blockers for hypertensive patients [J]. Am J Cardiovasc Dis, 2023, 13(4): 264.
[8] Byeon J Y, Kim Y H, Lee C M, et al. CYP2D6 allele frequencies in Korean population, comparison with East Asian, Caucasian and African populations, and the comparison of metabolic activity of CYP2D6 genotypes [J]. Arch Pharm Res, 2018, 41: 921-930.
[9] Oldham H G, Clarke S E. In vitro identification of the human cytochrome P450 enzymes involved in the metabolism of R (+)-and S (-)-carvedilol [J]. Drug Metab Dispos, 1997, 25(8): 970-977.
[10] Eadon M T, Chapman A B. A physiologic approach to the pharmacogenomics of hypertension [J]. Adv Chronic Kidney D, 2016, 23(2): 91-105.
[11] Hwang S, Lee S, Yoon J, et al. Population pharmacokinetic-pharmacodynamic modeling of carvedilol to evaluate the effect of cytochrome P450 2D6 genotype on the heart rate reduction [J]. J Korean Med Sci, 2023, 38(22): e173.
[12] Jung E, Ryu S, Park Z, et al. Influence of CYP2D6 polymorphism on the pharmacokinetic/pharmacodynamic characteristics of carvedilol in healthy Korean volunteers [J]. J Korean Med Sci, 2018, 33(27): e182.
[13] Chen K, Xiao P, Li G, et al. Distributive characteristics of the CYP2C9 and AGTR1 genetic polymorphisms in Han Chinese hypertensive patients: a retrospective study [J]. BMC Cardiovasc Disord, 2021, 21(1): 1-6.
[14] Babaoglu M O, Yasar U, Sandberg M, et al. CYP2C9 genetic variants and losartan oxidation in a Turkish population [J]. Eur J Clin Pharmacol, 2004, 60: 337-342.
[15] Hong X, Zhang S, Mao G, et al. CYP2C9* 3 allelic variant is associated with metabolism of irbesartan in Chinese population [J]. Eur J Clin Pharmacol, 2005, 61: 627-634.
[16] Zuo X C, Zhang W L, Yuan H, et al. ABCB1 polymorphism and gender affect the pharmacokinetics of amlodipine in Chinese patients with essential hypertension: a population analysis [J]. Drug Metab Pharmacokinet, 2014, 29(4): 305-311.
[17] Huang Y, Liu X L, Wen J, et al. Downregulation of the β1 adrenergic receptor in the myocardium results in insensitivity to metoprolol and reduces blood pressure in spontaneously hypertensive rats [J]. Mol Med Rep, 2017, 15(2): 703-711.
[18] 关开行, 王文景, 姜允奇, 等. β肾上腺素受体在心血管系统的基础与临床研究进展 [J]. 中国心血管杂志, 2019, 24(5): 5.
[19] Johnson J A, Zineh I, Puckett B J, et al. β1-Adrenergic receptor polymorphisms and antihypertensive response to metoprolol [J]. Clin Pharmacol Ther, 2003, 74(1): 44-52.
[20] Guerra L A, Lteif C, Arwood M J, et al. Genetic polymorphisms in ADRB2 and ADRB1 are associated with differential survival in heart failure patients taking β-blockers [J]. Pharmacogenomics J, 2022, 22(1): 62-68.
[21] Dong H, Wang F Z, Shi K, et al. Association of cytochrome P450 2C9* 3 and angiotensin II receptor 1 (1166A> C) gene polymorphisms with the antihypertensive effect of irbesartan [J]. Am J Hypertens, 2021, 34(1): 121.
[22] 余汉忠, 李 磊, 董 勃, 等. AGTR1(A1166C)基因多态性对高血压患者检验指标的影响 [J]. 临床检验杂志, 2023, 41(3): 180-185.
[23] Li Z Y, Ma Q, Li X, et al. Association of AGTR1 gene methylation and its genetic variant in Chinese farmer with hypertension: a case-control study [J]. Medicine, 2022, 101: e29712.
[24] Zeng Y, Jiang Y, Huang Z, et al. Association between AGTR1 (c. 1166 A> C) polymorphisms and kidney injury in hypertension [J]. Front Biosci-Landmark, 2023, 28(7): 146.
[25] Civieri G, Iop L, Tona F. Antibodies against angiotensin II type 1 and endothelin 1 type A receptors in cardiovascular pathologies [J]. Int J Mol Sci, 2022, 23(2): 927.
[26] Melake A, Brhanie N. Association between ACE I/D gene polymorphism and dyslipidemia in hypertensive patients with ischemic heart disease complication among Ethiopian population [J]. Res Rep Clin Cardiol, 2023, 14: 1-8.
[27] Patel D D, Parchwani D N, Dikshit N, et al. Analysis of the pattern, alliance and risk of rs1799752 (ACE I/D polymorphism) with essential hypertension [J]. Ind J Clin Biochem, 2022, 37: 18-28.
[28] Kumari N, Yadav A, Ahirwar R, et al. Angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism and its association with cardiovascular adversities-A systematic review [J]. Hum Gene, 2022, 34: 201117.
[29] Baudin B. Angiotensin I-converting enzyme gene polymorphism and drug response [J]. Clin Chem Lab Med, 2000, 38(9): 853-856.
[30] Agerholm-Larsen B, Nordestgaard B G, Tybjærg-Hansen A. ACE gene polymorphism in cardiovascular disease: meta-analyses of small and large studies in whites [J]. Arterioscler Thromb Vasc Biol, 2000, 20(2): 484-492.
[31] 李 露, 李铭扬, 王祥宇, 等. ACE基因插入/缺失多态性与中国原发性高血压患者ACEI降压效果及咳嗽风险关联性的Meta分析 [J]. 临床心血管病杂志, 2017, 33(3): 251-257.
[32] 孙晓燕, 周丽娟, 吕朋举, 等. 河南汉族人群抗高血压药物相关基因多态性与高血压发病及降压效果的关联研究 [J]. 中国医院药学杂志, 2021, 41(17): 1730-1735.
[33] 李海志, 李 特, 胡晓倩, 等. 基因检测指导难治性高血压用药有效性及安全性的系统评价 [J]. 医学信息, 2023, 36(19): 34-39.
[34] 李建民, 张景昌, 黄学成, 等. 基因多态性与高血压药物疗效的相关性研究 [J]. 巴楚医学, 2022, 5(2): 33-37.
[35] Liang H, Zhang X, Ma Z, et al. Association of CYP3A5 gene polymorphisms and amlodipine-induced peripheral edema in chinese han patients with essential hypertension [J]. Pharmacogenomics Pers Med, 2021, 14: 189-197.
[36] 刘 翔. 基因检测在老年难治性高血压个体化治疗中的应用 [D]. 芜湖: 皖南医学院, 2023.
[37] Kelley E F, Snyder E M, Alkhatib N S, et al. Economic evaluation of a pharmacogenomic multi-gene panel test to optimize anti-hypertension therapy: simulation study [J]. J Med Econ, 2018, 21(12): 1246-1253.
[38] 范新明, 陈本发, 陈伟杰, 等. 探讨基因导向美托洛尔个体化治疗与常规治疗高血压的临床疗效、安全性及经济性 [J]. 中国社区医师, 2019, 35(12): 19-21.
[39] 李 智, 孙 伟. 基因导向美托洛尔个体化治疗与常规治疗高血压的临床疗效、安全性及经济性评价 [J]. 中国药物经济学, 2017, 12(8): 27-29, 33.
[40] Berm E J, Looff M d, Wilffert B, et al. Economic evaluations of pharmacogenetic and pharmacogenomic screening tests: a systematic review. Second update of the literature [J]. PLoS One, 2016, 11(1): e0146262.
[41] 喻 晶, 杨 璐, 张舒琼, 等. 7个高血压药物相关基因的多态性在582例汉族高血压患者中的分布 [J]. 国际检验医学杂志, 2021, 42(3): 325-328, 333.
[42] 易珍奎, 李建容, 谭安军. 538例高血压患者的药物基因多态性与精准用药分析 [J]. 中国处方药, 2024, 22(1): 69-72.
[43] 邵明晶, 徐 慧, 杜金行. 原发性高血压病HRV与ACE基因I/D多态性及中医证型的相关性研究 [J]. 中华中医药杂志, 2018, 33(6): 2356-2359.
[44] 徐 慧. 原发性高血压病中医证型与高血压药物基因多态性的相关性研究 [D]. 北京:北京中医药大学, 2018.
[45] 吴传云, 周雪梅, 董 梅, 等. AT1R基因位点与环境因素交互作用对原发性高血压证候形成的影响 [J]. 北京中医药大学学报, 2015, 38(12): 817-822.
[46] 耿乃志, 冯赛赛. H型高血压亚甲基四氢叶酸还原酶基因(MTHFR基因)与中医证型的相关性研究 [J]. 中国民间疗法, 2021, 29(9): 106-108.

PDF(928 KB)

Accesses

Citation

Detail

段落导航
相关文章

/