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意大利特发性低肾素性高血压患者CYP11B2基因-344C/T多态性

-344C/T polymorphism of CYP11B2 gene in Italian patients with idiopathic low renin hypertension.

作者信息

Rossi E, Regolisti G, Perazzoli F, Negro A, Davoli S, Nicoli D, Sani C, Casali B

机构信息

2nd Unit of Internal Medicine, Santa Maria Nuova Hospital, Reggio Emilia, Italy.

出版信息

Am J Hypertens. 2001 Sep;14(9 Pt 1):934-41. doi: 10.1016/s0895-7061(01)02138-0.

Abstract

Most patients with low renin essential hypertension are not qualitatively different from patients with idiopathic hyperaldosteronism, as in both conditions aldosterone secretion is not appropriately reduced. The aim of the study was to investigate allele and genotype frequencies of the -344C/T polymorphism, located in the promoter region of the aldosterone synthase gene, in 83 patients with idiopathic low renin hypertension characterized by an increased aldosterone to renin ratio, including both patients with low renin essential hypertension (n=53) and subjects with idiopathic hyperaldosteronism (n=30), compared with 78 patients with normal to high renin essential hypertension and 126 normotensive control subjects. The relationship of -344C/T genotypes to basal and postcaptopril plasma aldosterone/plasma renin activity ratio was also examined in the entire hypertensive population. An increased frequency of the T allele and a relative excess of TT homozygosity over CC homozygosity were found in patients with idiopathic low renin hypertension in comparison with both normal to high renin hypertensives and normotensive controls. A higher post-captopril aldosterone to renin ratio was found in the hypertensives with TT genotype than in those with CC genotype, and TT+TC genotypes were associated with a smaller decrease in the aldosterone-to-renin ratio elicited by captopril administration. The present study suggests that the -344C/T polymorphism, or a functional variant in linkage disequilibrium with it, may play a role in the abnormal regulation of aldosterone secretion in idiopathic low renin hypertension.

摘要

大多数低肾素性原发性高血压患者与特发性醛固酮增多症患者在本质上并无差异,因为在这两种情况下醛固酮分泌均未得到适当减少。本研究的目的是调查醛固酮合酶基因启动子区域的 -344C/T 多态性的等位基因和基因型频率,研究对象为 83 例以醛固酮与肾素比值升高为特征的特发性低肾素性高血压患者,包括低肾素性原发性高血压患者(n = 53)和特发性醛固酮增多症患者(n = 30),并与 78 例肾素正常至升高的原发性高血压患者及 126 例血压正常的对照者进行比较。还在整个高血压人群中研究了 -344C/T 基因型与基础及卡托普利治疗后血浆醛固酮/血浆肾素活性比值的关系。与肾素正常至升高的高血压患者和血压正常的对照者相比,特发性低肾素性高血压患者中 T 等位基因频率增加,且 TT 纯合子相对 CC 纯合子过量。TT 基因型的高血压患者卡托普利治疗后的醛固酮与肾素比值高于 CC 基因型患者,且 TT + TC 基因型与卡托普利给药引起的醛固酮与肾素比值下降较小有关。本研究表明,-344C/T 多态性或与之处于连锁不平衡的功能性变异可能在特发性低肾素性高血压醛固酮分泌的异常调节中起作用。

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