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Abstract
Background: IHD is determined by an inadequate coronary blood supply to the myocardium, and endothelial dysfunction may represent one of the main pathophysiological mechanisms involved. Genetic predisposition to endothelial dysfunction has been associated with IHD and its clinical manifestation. However, studies are often confounding and inconclusive for several reasons, such as interethnic differences. Validation of results in larger cohorts and new populations is needed. The aim of this study is to evaluate the associations between the allelic variants of the eNOS rs1799983 single-nucleotide polymorphism, IHD susceptibility and its clinical presentation. Methods: A total of 362 consecutive patients with suspected myocardial ischemia were enrolled. Patients were divided into three groups: G1, coronary artery disease (CAD); G2, coronary microvascular dysfunction (CMD); and G3, a control group with anatomically and functionally normal coronary arteries. Analysis of three allelic variants, GT, GG and TT, of rs1799983 for the NOS3 gene, encoding for eNOS, was performed. Results: rs1799983_GT was significantly more expressed by the ischemic groups (G1 and G2) compared to G3. The TT variant was significantly more expressed by the G1 group, compared to the G2 group. Among ischemic patients, GT was significantly more expressed in patients with acute coronary syndrome (ACS) presentation, compared to other clinical presentations. In the multivariate analysis, the allelic variant GT was found to potentially represent an independent predictor of IHD and ACS presentation. Conclusion: The presence of the SNP rs1799983_GT, encoding for eNOS, is an independent risk factor for IHD and, remarkably, for ACS presentation, independently of cardiovascular risk factors. These results may be useful for the prediction of IHD development, particularly with an acute clinical manifestation. They may allow the early identification of patients at high risk of developing IHD with an ACS, promoting a genetic-based prevention strategy against IHD.
Highlights
We previously described that the single-nucleotide polymorphism (SNP) rs1799983 (G894T; Glu298Asp) in exon 7 of the NOS3 gene on chromosome 7q3536, encoding for Endothelial nitric oxide synthase (eNOS) production, with a key role in vascular homeostasis, vasodilation function preservation consequences
A coronary angiThe aim of this study is to evaluate the association among allelic variants of the NOS3 ography was performed according to current guidelines [22]
The results of this study highlight the role of the eNOS rs1799983 SNP as an independent genetic predictor of ischemic heart disease (IHD) and acute coronary syndrome (ACS) clinical presentation, beyond underlying pathophysiological mechanisms of myocardial ischemia and CV risk factors
Summary
Coronary artery disease (CAD) is a pathological process characterized by atherosclerotic plaque formation and progression, which may cause various degrees of myocardial ischemia, reducing coronary blood flow to the myocardium [2]. CAD may be associated with different clinical presentations of IHD, from acute coronary syndrome (ACS), when an acute plaque destabilization occurs, to chronic coronary syndrome (CCS), when plaque growth occurs progressively and slowly [2]. IHD is determined by an inadequate coronary blood supply to the myocardium, and endothelial dysfunction may represent one of the main pathophysiological mechanisms involved. The aim of this study is to evaluate the associations between the allelic variants of the eNOS rs1799983 single-nucleotide polymorphism, IHD susceptibility and its clinical presentation. GT was significantly more expressed in patients with acute coronary syndrome (ACS) presentation, compared to other clinical presentations
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