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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 75235-9063, USA.

出版信息

J Steroid Biochem Mol Biol. 1999 Apr-Jun;69(1-6):409-12. doi: 10.1016/s0960-0760(99)00071-0.

DOI:10.1016/s0960-0760(99)00071-0
PMID:10419019
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,进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成酶(CYP11B2)基因启动子中鉴定出一种多态性(-344C/T),它会影响SF-1转录因子的结合,因此可能影响基因表达。我们发现,虽然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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引用本文的文献

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J Int Med Res. 2020 Sep;48(9):300060520949409. doi: 10.1177/0300060520949409.
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Allele, Genotype and Haplotype Structures of Functional Polymorphic Variants in Endothelial Nitric Oxide Synthase (eNOS), Angiotensinogen (ACE) and Aldosterone Synthase (CYP11B2) Genes in Healthy Pregnant Women of Indian Ethnicity.印度裔健康孕妇中内皮型一氧化氮合酶(eNOS)、血管紧张素原(ACE)和醛固酮合酶(CYP11B2)基因功能多态性变体的等位基因、基因型和单倍型结构
J Reprod Infertil. 2015 Oct-Dec;16(4):180-92.
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Association of aldosterone synthase (CYP11B2) -344 T/C polymorphism with diabetic nephropathy: A meta-analysis.
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