Endothelin-converting enzyme-1b C-338A polymorphism is associated with the increased risk of coronary artery disease in Chinese population

BACKGROUND: Endothelin-converting enzyme-1 (ECE-1), the key enzyme responsible for endothelin-1 generation, has been linked to coronary artery disease (CAD). Recently, a genetic polymorphism (ECE-1b C-338A) located in ECE-1 gene promoter was identified. However, it is unclear whether this polymorphism is associated with the risk of CAD. METHODS: We conducted a study with CAD patients and controls matched by age and sex to examine the prevalence of ECE-1b C-338A polymorphism in CAD. RESULTS: The frequencies of ECE-1b-338CC, CA, and AA genotypes in cases (40.1%, 42.2%, and 17.7%) were significantly different from those of controls (50.6%, 40.5%, and 8.9%, chi2=9.989, P=0.007). Subjects with the variant genotypes (CA+ AA) had a 58% increased risk of CAD relative to CC carriers (adjusted OR=1.58, 95% CI=1.07-2.32). Furthermore, the adjusted OR of AA genotype for CAD was 2.33 (95% CI=1.25-4.35). In stratified analyses, the A allele was significantly associated with increased risk of CAD in female (adjusted OR=2.86, 95% CI=1.40-5.84) and subjects with age >or= 64 y (adjusted OR=2.96, 95% CI=1.73-5.08). Moreover, the frequency of patients with variant genotypes increased gradually from single- to triple-vessel disease although without statistical significance (P=0.069 for trend). CONCLUSION: Our results suggested that ECE-1b-338C to A variant might be associated with increased risk of CAD in Chinese population.