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醛固酮合成酶(CYP11B2)基因多态性与心血管功能

Aldosterone synthase (CYP11B2) polymorphisms and cardiovascular function.

作者信息

White P C, Hautanen A, Kupari M

机构信息

Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, USA.

出版信息

Endocr Res. 1998 Aug-Nov;24(3-4):797-804. doi: 10.3109/07435809809032690.

DOI:10.3109/07435809809032690
PMID:9888580
Abstract

In addition to regulating renal sodium resorption and, thus, intravascular volume, aldosterone may have direct effects on the cardiovascular system. We previously identified a polymorphism (-344C/T) in the promoter of the aldosterone synthase (CYP11B2) gene that affects binding of the SF-1 transcription factor and thus might influence gene expression. We found that, whereas this polymorphism has inconsistent associations with levels of aldosterone secretion and blood pressure, the -344C allele is strongly associated with increased left ventricular size and decreased baroreflex sensitivity in healthy individuals. These physiological parameters are cardiovascular risk factors. Indeed, preliminary studies suggest that the -344C allele is also associated with increased risk of myocardial infarction in high risk dyslipidemic males.

摘要

除了调节肾脏对钠的重吸收从而调节血管内容量外,醛固酮可能对心血管系统有直接作用。我们之前在醛固酮合酶(CYP11B2)基因启动子中鉴定出一种多态性(-344C/T),它会影响类固醇生成因子1(SF-1)转录因子的结合,进而可能影响基因表达。我们发现,尽管这种多态性与醛固酮分泌水平和血压的关联并不一致,但在健康个体中,-344C等位基因与左心室增大及压力感受性反射敏感性降低密切相关。这些生理参数都是心血管危险因素。事实上,初步研究表明,-344C等位基因在高危血脂异常男性中也与心肌梗死风险增加有关。

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Aldosterone synthase (CYP11B2) polymorphisms and cardiovascular function.醛固酮合成酶(CYP11B2)基因多态性与心血管功能
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Aldosterone synthase (CYP11B2) polymorphisms and cardiovascular function.醛固酮合成酶(CYP11B2)基因多态性与心血管功能
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引用本文的文献

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Association of -344C/T polymorphism in the aldosterone synthase (CYP11B2) gene with cardiac and cerebrovascular events in Chinese patients with hypertension.醛固酮合酶(CYP11B2)基因-344C/T 多态性与中国高血压患者心脑血管事件的关系。
J Int Med Res. 2020 Sep;48(9):300060520949409. doi: 10.1177/0300060520949409.
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Towards Precision Medicine for Hypertension: A Review of Genomic, Epigenomic, and Microbiomic Effects on Blood Pressure in Experimental Rat Models and Humans.迈向高血压的精准医学:实验大鼠模型和人类中基因组、表观基因组及微生物组对血压影响的综述
Physiol Rev. 2017 Oct 1;97(4):1469-1528. doi: 10.1152/physrev.00035.2016.
3
Association of polymorphisms with metabolic syndrome patients.
多态性与代谢综合征患者的关联。
Biomed Rep. 2014 Sep;2(5):749-754. doi: 10.3892/br.2014.316. Epub 2014 Jul 11.
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Aldosterone Synthase Gene (CYP11B2) Polymorphism in Korean End-Stage Renal Disease Patients on Hemodialysis.韩国接受血液透析的终末期肾病患者的醛固酮合酶基因(CYP11B2)多态性
Electrolyte Blood Press. 2009 Dec;7(2):67-72. doi: 10.5049/EBP.2009.7.2.67. Epub 2009 Dec 31.