What is the Origin of NOS3 Polymorphism?

The term originates from pharmacogenetics and cardiovascular genetics, where researchers study how genetic variations influence physiological function and disease susceptibility. The focus on NOS3 arose from the discovery of nitric oxide's central role in endothelial health and the recognition that genetic variability could explain differences in cardiovascular risk among individuals. It represents a personalized risk factor.

What is the Mechanism of NOS3 Polymorphism?

Polymorphisms in the NOS3 gene can affect the enzyme's expression level, its stability, or its catalytic efficiency in converting L-arginine to nitric oxide. A reduction in functional NO production compromises the endothelium's ability to signal for vasodilation, leading to impaired blood flow and an increased risk of hypertension and atherosclerosis. This genetic factor can modify an individual's vascular response to hormonal therapies.

NOS3 Polymorphism ∞ Area

NOS3 Polymorphism

Meaning

NOS3 polymorphism refers to variations in the genetic sequence of the endothelial nitric oxide synthase gene, known as NOS3 or eNOS. This gene encodes the enzyme responsible for producing nitric oxide (NO) in the endothelium, a crucial molecule for regulating vascular tone and blood flow. Certain common polymorphisms are clinically investigated for their association with cardiovascular risk and endothelial dysfunction, which is often linked to hormonal imbalances.