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内皮型一氧化氮合酶基因变异与早发心肌梗死风险。

eNOS gene variants and the risk of premature myocardial infarction.

机构信息

Laboratory of Haematology and Blood Transfusion Unit, Attikon Hospital, School of Medicine, University of Athens, Athina, Greece.

出版信息

Dis Markers. 2013;34(6):431-6. doi: 10.3233/DMA-130987.

Abstract

BACKGROUND

Endothelial nitric oxide synthase (eNOS) as well as nitric oxide play an important role in the regulation of cardiovascular function. There are limited and controversial data regarding the impact of polymorphisms of eNOS gene that is implicated in the vasoconstrictive properties of the endothelium in the pathogenesis of premature myocardial infarction (MI).

OBJECTIVE

We examined whether two common polymorphisms of eNOS gene (G894T and T786C) are associated with the development of premature MI.

METHODS

We recruited 107 patients with premature MI and compared them to 103 age- and sex- matched controls. All patients underwent coronary angiogram and were classified into the subgroup of patients with 'normal' or 'near normal' coronary arteries and the subgroup of patients with significant coronary artery disease (≥ 50% stenosis in lumen diameter of coronary arteries). The genetic polymorphisms of eNOS gene were assayed with polymerase chain reaction and reverse hybridization.

RESULTS

Nineteen patients (17.8%) had 'normal' or 'near normal' coronary arteries. A significantly higher frequency of homozygosity for the 786C (32%) and the 894T (21%) alleles of the eNOS gene in patients who develop early MI in the setting of angiographically 'normal' or 'near normal' coronary arteries were found.

CONCLUSIONS

Our data suggest that the T786C and the G894T genetic polymorphisms are associated with the development of MI in very young individuals, whose coronary arteries are characterized by very small atheromatic burden.

摘要

背景

内皮型一氧化氮合酶(eNOS)和一氧化氮在心血管功能调节中起着重要作用。关于内皮细胞血管收缩特性与内皮型一氧化氮合酶基因多态性有关的发病机制中,对涉及的 eNOS 基因多态性对早发性心肌梗死(MI)的影响,目前数据有限且存在争议。

目的

我们研究了内皮型一氧化氮合酶基因的两种常见多态性(G894T 和 T786C)是否与早发性 MI 的发生有关。

方法

我们招募了 107 例早发性 MI 患者,并与 103 例年龄和性别匹配的对照组进行比较。所有患者均接受冠状动脉造影,并分为“正常”或“接近正常”冠状动脉的患者亚组和有明显冠状动脉疾病(冠状动脉内径狭窄≥50%)的患者亚组。采用聚合酶链反应和反向杂交法检测内皮型一氧化氮合酶基因的遗传多态性。

结果

19 例(17.8%)患者冠状动脉“正常”或“接近正常”。在冠状动脉造影“正常”或“接近正常”的早发性 MI 患者中,eNOS 基因的 786C(32%)和 894T(21%)等位基因的纯合子频率明显较高。

结论

我们的数据表明,T786C 和 G894T 遗传多态性与血管粥样硬化负担极小的年轻个体 MI 的发生有关。

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eNOS gene variants and the risk of premature myocardial infarction.
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