Abstract
BACKGROUND: Coronary artery disease (CAD) is a polygenic disease whose phenotypic manifestation is due to interaction of a number of environmental factors with an underlying genetic background. A number of genes, including the angiotensin-I converting enzyme (ACE) gene, have been implicated in the pathogenesis of CAD. ACE can affect oxidation of LDL, endothelial cell function, and smooth muscle cell migration and proliferation: all important components of atherosclerosis. A variant of ACE gene, genotype DD is associated with a higher plasma level of ACE and an increased risk of myocardial infarction, and cardiomyopathies. In this study, we sought to determine the distribution of ACE genotypes and the frequency of allele D in patients with CAD undergoing coronary angioplasty. METHODS: DNA from 182 white patients undergoing coronary angioplasty and 338 apparently healthy white individuals was amplified by polymerase chain reaction (PCR) in the region of the polymorphism using the previously published protocol. RESULTS: PCR amplification of alleles I and D resulted in 490 bp and 190 bp products, respectively. ACE genotype DD was present in 47% of patients with CAD as compared to 30% in the general population (p = 0.0002, Odds ratio 2.7). The frequency of allele D was 0.68 in patients with CAD and 0.55 in general population, respectively (p < 0.0001). Genotype DD was associated with CAD only in males (54% vs. 30%, p = 0.0001, Odds ratio 2.0), but not in female patients. There was no association between the frequency of ACE genotype DD and the prior history of myocardial infarction, or the extent of CAD. The frequency of ACE genotype DD was the highest among patients with restenosis following angioplasty (55%), however, the difference was not significantly changed as compared to those without restenosis (40%). CONCLUSIONS: ACE genotype DD is more common in patients with CAD as compared to the general population, indicating that genotype DD is a genetic risk factor for CAD.