不同类型高血压患者的 ACE 基因 I/D 多态性与全身性动脉高血压

Rubia Caldas Umburanas, Priscila Costa Estabile, Rogério Pincela Mateus, Mara Cristina de Almeida, Roberto Ferreira Artoni
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引用次数: 0

摘要

系统性动脉高血压(SAH)是一种多因素临床症状,其特点是血压(BP)水平高且持续。一些研究报告称,血管紧张素转换酶(ace)基因的变异会增加高血压的风险。本研究旨在验证四组不同的高血压患者中,血管紧张素转换酶基因的插入/缺失(I/D)多态性及其基因型变异与血压之间是否存在关系,并从遗传学和流行病学角度分析所调查样本的特征。这项研究将 112 人分为以下几组:血压正常(对照组);高血压和非肥胖;高血压和肥胖;高血压和 2 型糖尿病(T2DM)。收集参与者的流行病学数据和外周血,以提取 DNA 并通过聚合酶链反应(PCR)进行扩增。等位基因(D=0.5446;I=0.4554)和基因型(DD=0.2411,ID=0.6071;II=0.1518)频率显示出较低的遗传分化(Fst<0.05),并且超出了哈代-温伯格平衡(P<0.05)。组间无明显差异(秩方=4.4335;P=0.6174)。D等位基因与SAH没有关联,这加强了SAH进化过程中普遍存在环境干扰的假设。
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ACE Gene I/D polymorphism and systemic arterial hypertension in different classes of hypertensive individuals
Systemic arterial hypertension (SAH) is a multifactorial clinical condition characterized by high and sustained levels of blood pressure (BP). Some studies have reported that variants of the angiotensin-converting enzyme (ace) gene increase the risk of hypertension. The aim of this study was to verify the existence of the relationship between the insertion/deletion (I/D) polymorphism in the ACE gene and its genotypic variants with BP in four distinct groups of hypertensive individuals and also to genetically and epidemiologically characterize the investigated samples. The study was formed of 112 individuals arranged into the following groups: normotensive (control); hypertensive and non-obese; hypertensive and obese; and, hypertensive and with type 2 diabetes mellitus (T2DM). Epidemiological data and peripheral blood were collected from participants for DNA extraction and amplification by PCR (polymerase chain reaction). The allele (D=0.5446; I=0.4554) and genotype (DD =0.2411, ID =0.6071; II =0.1518) frequencies showed low genetic differentiation (Fst<0.05) and were outside the Hardy-Weinberg equilibrium (p<0.05). There was no significant difference between the groups (chi-square=4.4335; p=0.6174). There was no association of the D allele with SAH, reinforcing the hypothesis that environmental interferences are prevalent in the evolution of SAH.
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