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Rev Assoc Med Bras (1992). 2019 Jul 22;65(6):923-929. doi: 10.1590/1806-9282.65.6.923.
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The contribution of NOS3 variants to coronary artery disease: A combined genetic epidemiology and computational biochemistry perspective.NOS3 变体对冠状动脉疾病的贡献:综合遗传流行病学和计算生物化学视角。
Int J Biol Macromol. 2019 Feb 15;123:494-499. doi: 10.1016/j.ijbiomac.2018.11.128. Epub 2018 Nov 14.
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Impact of I/D polymorphism of angiotensin-converting enzyme (ACE) gene on myocardial infarction susceptibility among young Moroccan patients.血管紧张素转换酶(ACE)基因I/D多态性对摩洛哥年轻心肌梗死患者易感性的影响。
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Biochem Genet. 2016 Apr;54(2):134-46. doi: 10.1007/s10528-015-9706-9. Epub 2015 Dec 19.
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利用肾素-血管紧张素基因多态性与冠状动脉疾病之间的关联进行风险评估。

Risk Assessment Using the Association Between Renin-Angiotensin Genes Polymorphisms and Coronary Artery Disease.

作者信息

Riad Mohamed, Adhikari Prakash, Bhattarai Sanket, Gupta Ashish, Ali Eiman, Ali Moeez, Mostafa Jihan A

机构信息

Internal Medicine, California Institute of Behavioral Neurosciences & Psychology, Fairfield, USA.

Internal Medicine, Piedmont Athens Regional Medical Center, Athens, USA.

出版信息

Cureus. 2021 Mar 24;13(3):e14083. doi: 10.7759/cureus.14083.

DOI:10.7759/cureus.14083
PMID:33907634
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8065096/
Abstract

Coronary artery disease (CAD) is a multifactorial disease that involves genetic and environmental interaction. In addition to the well-known CAD risk factors, such as diabetes mellitus, hypertension, hyperlipidemia, and atherosclerosis, it has a genetic component that predisposes to its occurrence even in young people. One of the most commonly studied genes that increase the susceptibility to CAD is renin-angiotensin system (RAS) genes polymorphisms mainly angiotensin-converting enzyme gene (ACE) polymorphisms, angiotensinogen polymorphisms, angiotensin- II type 1 receptor gene polymorphisms, and many other genes. These genetic polymorphisms have a direct association with CAD development or indirect association through causing atherosclerosis and hypertension which, in turn, are complicated by CAD later on. The difference between genetic mutations and polymorphisms lies in the frequency of the abnormal genotype. If the frequency is 1% and more in the general population, it is called polymorphism and if it is less than 1%, then it is called a mutation. According to our findings, after thorough searching, which support the association of RAS genes polymorphisms with premature CAD, hypertension, hypertrophic cardiomyopathy, and atherosclerosis, we recommend additional studies in the form of clinical trials and meta-analyses aiming to create a specific diagnostic tool for CAD risk assessment and discovering the high-risk people as early as possible. Targeted gene therapy, being the future of medicine, needs to be taken into researchers' consideration. It can have promising results in these cases.

摘要

冠状动脉疾病(CAD)是一种涉及遗传与环境相互作用的多因素疾病。除了众所周知的CAD危险因素,如糖尿病、高血压、高脂血症和动脉粥样硬化外,它还具有遗传成分,即使在年轻人中也易引发该病。最常被研究的增加CAD易感性的基因之一是肾素 - 血管紧张素系统(RAS)基因多态性,主要是血管紧张素转换酶基因(ACE)多态性、血管紧张素原多态性、血管紧张素II 1型受体基因多态性以及许多其他基因。这些基因多态性与CAD的发生有直接关联,或通过引发动脉粥样硬化和高血压产生间接关联,而动脉粥样硬化和高血压随后又会并发CAD。基因突变和多态性的区别在于异常基因型的频率。如果在普通人群中的频率为1%及以上,则称为多态性;如果低于1%,则称为突变。根据我们的研究结果,经过全面搜索,支持RAS基因多态性与早发性CAD、高血压、肥厚型心肌病和动脉粥样硬化之间的关联,我们建议开展以临床试验和荟萃分析形式的进一步研究,旨在创建一种用于CAD风险评估的特定诊断工具,并尽早发现高危人群。作为医学未来发展方向的靶向基因治疗需要研究者予以考虑。在这些病例中可能会取得有前景的结果。