A missense Glu298Asp variant in the endothelial nitric oxide synthase gene is associated with coronary spasm in the Japanese

摘要: Coronary spasm plays an important role in the pathogenesis of not only variant angina but also ischemic heart disease general. However, precise mechanism(s) by which coronary occurs remains to be elucidated. may arise from interactions between environmental and genetic factors. Endothelial-derived nitric oxide (NO) has been implicated control vascular tone. We have recently shown that both basal acetylcholine (ACh)-induced NO activities are impaired arteries patients with spasm. The purpose this study elucidate possible variants occur coding region endothelial synthase (eNOS) gene associated After initial screening entire 26 regions eNOS gene, we found a missense Glu298Asp exon 7 subsequently performed larger scale involving 113 100 subjects, who were all diagnosed intracoronary injection ACh. analysis revealed significant difference distribution group (21.2%) (9.0%; P=0.014 for dominant effect). Thus, its regions. is significantly