Association of endothelial nitric oxide synthase promoter region (T-786C) gene polymorphism with acute coronary syndrome and coronary heart disease

• Published in: Lipids in health and disease Vol. 7; no. 1; p. 5
• Main Authors: Ciftçi, C, Melil, S, Cebi, Y, Ersöz, M, Cağatay, P, Kiliçgedik, M, Duman, B Süsleyici
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 25-02-2008; BioMed Central; BMC
• Subjects: Acute Coronary Syndrome - diagnosis; Acute Coronary Syndrome - genetics; Coronary Disease - diagnosis; Coronary Disease - genetics; Coronary heart disease; DNA - blood; Female; Gene Frequency; Genetic aspects; Genetic polymorphisms; Genetic Predisposition to Disease; Genotype; Humans; Male; Nitric oxide; Nitric Oxide Synthase Type III - genetics; Physiological aspects; Polymorphism, Genetic - genetics; Promoter Regions, Genetic - genetics; Turkey; Turkey
• ISSN: 1476-511X; 1476-511X
• DOI: 10.1186/1476-511X-7-5

Nitric oxide (NO) is an endothelium derived relaxing factor (EDRF) which has an important role for regulating the heart-vessel physiology. The objective of this study was to evaluate the effects of the eNOS T-786C polymorphism on lipid parameters and the development of acute coronary syndrome (ACS) and coronary heart disease (CHD) for the first time in a Turkish study group. We have analyzed the genotype frequencies of the T-786C polymorphism of the eNOS gene in 10 ACS patients (5 men, 5 women), 20 CHD patients (14 men, 6 women), and 31 controls (10 men, 21 women), who were angiographically proven to have normal coronaries.
The demographic, biochemical and left ventricule systolic dysfunction data of the ACS, CHD patients and controls were analyzed as a function of eNOS T-786C genotypes. The eNOS gene T-786C polymorphism frequencies for T/T, C/T and C/C genotypes were respectively 10%, 40%, 50% in subjects with ACS; 75%, 20%, 5% in subjects with CHD and 67.7%, 25.8%, 6.5% in the control group. Significant difference was observed in genotype frequencies between the study groups for T-786C polymorphism (p = 0.001). The CC genotype frequency was found to be the most prevalent in ACS group in comparison to CHD and control groups (p = 0.001). TT was the most frequently observed genotype in both CHD patients and controls (p = 0.001). Left ventricule systolic dysfunction frequency was found to be highest in C/T genotype carriers (66.7%) in patients (ACS+CHD). None of the patients with LVSD were carrying the normal genotype (T/T). The eNOS T-786C polymorphism was not found to be effective over any analyzed lipid variable in patients (ACS+CHD). The HDL-cholesterol levels were found to be lower in CHD group were compared to controls (p < 0.01), whereas glucose and leucocyte levels of the ACS and CHD groups were both higher than controls (p < 0.001).
The significantly high frequency of eNOS -786C/C genotype in ACS patients than in those of controls, indicate the genotype association with ACS. The finding of significantly high frequency of T/T genotype in the CHD group, may support the relationship of CC genotype with ACS without CHD. The high frequency of the mutant (C/C) and heterozygous (C/T) genotypes found may be linked to left ventricule remodeling after MI.