Adhikari Archana, Sharma Chandrakala, Lhamu Sherpa Mingma, Karaunakran Gauthaman, Dhakal Mona, Sharma Anita
Department of Pharmacology, Sikkim Manipal Institute of Medical Sciences (SMIMS), Sikkim Manipal University (SMU), New College Building, 5 Mile Tadong, Gangtok 737102, Sikkim, India.
Department of Biochemistry, Sikkim Manipal Institute of Medical Sciences (SMIMS), Sikkim Manipal University (SMU), Central Referral Hospital Building, 5th Mile Tadong, Gangtok 737102, Sikkim, India.
Int J Hypertens. 2025 May 1;2025:5530265. doi: 10.1155/ijhy/5530265. eCollection 2025.
Genetic, demographic and environmental factors all play a role in the frequency of an intricate multifactorial condition known as hypertension. Approximately 30% and 50% of BP fluctuation are influenced by genetic variability. Many genetic studies have confirmed the link between genetic variability and susceptibility to essential hypertension; hence, identifying genes associated with essential hypertension susceptibility will aid in understanding the pathophysiology and their influence on how an individual responds towards the antihypertensive therapy. There are also controversial results highlighted in some reports. This review summarises genetic variants of the renin-angiotensin-aldosterone system (RAAS), angiotensinogen (AGT) (M235T), angiotensin converting enzyme (ACE) (insertion/deletion), angiotensin II type 1 receptor (AT1R) (A1166C) and aldosterone synthase (C344T) that are known and might contribute towards the pathophysiology of essential hypertension. Furthermore, the review highlights the response of certain RAAS gene polymorphisms (renin, ACE and AT1R genes) to antihypertensive drugs.
遗传、人口统计学和环境因素在一种被称为高血压的复杂多因素疾病的发生频率中均发挥作用。约30%至50%的血压波动受遗传变异影响。许多遗传学研究已证实遗传变异与原发性高血压易感性之间的关联;因此,识别与原发性高血压易感性相关的基因将有助于理解其病理生理学以及它们对个体对抗高血压治疗反应的影响。一些报告中也突出显示了存在争议的结果。本综述总结了肾素-血管紧张素-醛固酮系统(RAAS)的基因变异,包括血管紧张素原(AGT)(M235T)、血管紧张素转换酶(ACE)(插入/缺失)、血管紧张素II 1型受体(AT1R)(A1166C)和醛固酮合酶(C344T),这些已知的基因变异可能与原发性高血压的病理生理学有关。此外,该综述还强调了某些RAAS基因多态性(肾素、ACE和AT1R基因)对抗高血压药物的反应。