Key result
The eNOS rs1799983_GT allelic variant was significantly associated with ischemic heart disease and acute coronary syndrome presentation compared to controls.
Why the study?
Studies linking genetic predisposition to endothelial dysfunction with IHD and its clinical manifestation are often inconclusive due to factors like interethnic differences, requiring validation in new populations.
Does the eNOS rs1799983 single-nucleotide polymorphism associate with ischemic heart disease susceptibility and acute coronary syndrome presentation in patients with suspected myocardial ischemia?
Observational (n=362)
Does the eNOS rs1799983 single-nucleotide polymorphism associate with ischemic heart disease susceptibility and acute coronary syndrome presentation in patients with suspected myocardial ischemia?
The eNOS rs1799983_GT allelic variant is an independent predictor of ischemic heart disease and acute coronary syndrome presentation, suggesting a potential genetic marker for risk stratification.
May support genetic risk stratification in suspected ischemia; leaves open incremental value over clinical predictors pending validation.
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.
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Severino et al. (2021) conducted an observational in Suspected myocardial ischemia (n=362). eNOS rs1799983 single-nucleotide polymorphism (GT variant) vs. Control group with normal coronary arteries / other allelic variants was evaluated on Ischemic heart disease susceptibility and clinical presentation. The eNOS rs1799983_GT allelic variant was significantly associated with ischemic heart disease and acute coronary syndrome presentation compared to controls.
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