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Published on: April 1, 2019
Atherosclerosis: analysis of the eNOS (T786C) gene polymorphism
A M Barbosa1,2, K S F Silva3, M H Lagares1,2
1Departamento de Biologia, Núcleo de Pesquisas Replicon, , , Brasil.
Insights
This study investigated the T786C polymorphism in the eNOS gene and its association with coronary arteriosclerotic disease. The T allele showed a tendency towards association, but results were not statistically significant in the studied population.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Molecular Biology
Background:
- Coronary arteriosclerotic disease is a leading cause of mortality.
- Atherosclerosis involves arterial narrowing and thrombosis, leading to severe clinical events.
- Nitric oxide, regulated by the eNOS gene, plays a crucial role in vascular health.
Purpose of the Study:
- To investigate the association between the T786C polymorphism of the eNOS gene and coronary arteriosclerotic disease.
- To determine if specific genotypes (TT, TC, CC) correlate with the presence of atherosclerosis.
- To analyze the influence of gender and smoking on this potential association.
Main Methods:
- Genotyping of the T786C polymorphism in 297 patients with diagnosed atherosclerotic disease and controls.
- Comparison of genotype frequencies between case and control groups using chi-square and G-tests.
- Stratified analysis based on gender and smoking status.
Main Results:
- The TC genotype was more prevalent in both groups, but without statistical significance.
- No significant differences were observed in genotype distributions (TC/TT vs. CC) between cases and controls.
- Gender and smoking status did not significantly alter the observed genotype associations.
Conclusions:
- The T786C polymorphism of the eNOS gene did not show a statistically significant association with coronary arteriosclerotic disease in this cohort.
- Despite a suggested tendency for the T allele, the study did not confirm a link between this polymorphism and atherosclerosis.
- Further research with larger sample sizes may be needed to clarify the role of eNOS polymorphisms in cardiovascular disease.
Abstract:
The coronary arteriosclerotic disease is the most common cardiovascular disease. Atherosclerosis affects large- and medium-sized arteries leading to severe thrombosis or artery stenosis that could evolve to myocardial infarction, ischemic stroke, ischemic injury of kidneys and intestines, and several other life-threatening clinical manifestations. Nitric oxide has been shown to be a promising therapeutic agent against cardiovascular diseases. The eNOS gene assumes several important functions, including regulation of vascular tone and regional blood flow, the suppression of vascular smooth muscle cell proliferation, and modulation of leukocyte-endothelium interactions. The T786C polymorphism is an important point mutation, where thymine is changed to cytosine. T786C significantly reduces the activity of the eNOS promoter gene. Two hundred and ninety-seven peripheral blood samples were collected from patients with the previous diagnosis of atherosclerotic disease based on clinical examination and confirmed by imaging methods. Results were compared using the chi-square test and the G-test. In the present study, the TC genotype was more frequent in both case and control groups with no statistically significant difference. Comparing the relation TC/TT and CC genotypes in the case and control groups, there was no statistically significant difference. No significant difference was found when genotypes were analyzed regarding gender and smoking. Our results suggest a strong tendency of the T allele, in single or double dose, to be associated with atherosclerosis that was not confirmed by the scientific data.
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