Endothelial nitric oxide synthase gene polymorphisms in cardiovascular disease.

Endothelial nitric oxide synthase (eNOS or NOS3), an enzyme constitutively expressed especially in endothelial cells, is largely responsible for nitric oxide (NO) bioavailability at the endothelial level. Alterations in endothelial-derived NO production have been associated with various diseases, and, in humans, can be genetically determined by the presence of different polymorphisms in the eNOS gene. To date, the most studied and functionally related polymorphisms are: Glu298Asp (rs1799983), -786T/C (rs2070744), and the intron 4 variable number tandem repeat. Evidence supports a major role of these variants in increasing susceptibility to cardiovascular disease (such as coronary artery disease, myocardial infarction, hypertension, pre-eclampsia, and stroke) as well as in the onset of other complex diseases.