The T-786-->C mutation in the eNOS gene was the most predictive independent risk factor for coronary spasm (P<0.0001) and significantly reduced eNOS gene promoter activity (P<0.05).
Case-Control
Is the T-786-->C mutation in the eNOS gene associated with an increased risk of coronary spasm?
The T-786-->C mutation in the eNOS gene reduces endothelial NO synthesis and is an independent risk factor for coronary spasm.
p-value: p=<0.0001
BACKGROUND: Coronary spasm plays an important role in the pathogenesis of ischemic heart diseases in general. However, the precise mechanism(s) responsible for coronary spasm remains to be elucidated, and we examined the molecular genetics of coronary spasm. METHODS AND RESULTS: We searched for the possible mutations in the endothelial nitric oxide synthase (eNOS) gene in patients with coronary spasm. In this study, we demonstrate the existence of 3 linked mutations in the 5'-flanking region of the eNOS gene (T-786-->C, A-922-->G, and T-1468-->A). The incidence of the mutations was significantly greater in patients with coronary spasm than in the control group (PC mutation resulted in a significant reduction in eNOS gene promoter activity (PG nor the T-1468-->A mutation had any affect. CONCLUSIONS: Taken together, these findings strongly suggest that the T-786-->C mutation in the eNOS gene reduces the endothelial NO synthesis and predisposes the patients with the mutation to coronary spasm.
Nakayama et al. (Tue,) conducted a case-control in Coronary spasm. eNOS gene mutations (T-786-->C, A-922-->G, and T-1468-->A) vs. Control group was evaluated on Incidence of eNOS gene mutations and association with coronary spasm (p=<0.0001). The T-786-->C mutation in the eNOS gene was the most predictive independent risk factor for coronary spasm (P<0.0001) and significantly reduced eNOS gene promoter activity (P<0.05).