Overview
NOS3 (also known as eNOS) produces nitric oxide (NO) in the endothelial cells of blood vessels. NO is a crucial signaling substance that relaxes vessel walls, thereby regulating blood flow and blood pressure.
7q36.1 (Chromosome 7)
Metabolism / Cardiovascular
Complex
T allele: ~30-40%
Function & Significance
Healthy NO production is the foundation for proper vascular function. Nitric oxide prevents blood platelets from sticking to the walls, acts as an anti-inflammatory within the vascular system, and is responsible for what is known as “endothelial function.” Physical activity and certain nutrients (such as L-arginine or nitrates from beetroot) can stimulate NO production.
🏃 Fitness & Circulation
In sports genetics, NOS3 is often studied because efficient NO production improves oxygen supply to the muscles and can positively influence recovery capacity.
🧬 Relevant SNP: rs1799983
The Glu298Asp variant influences the stability and activity of the enzyme:
7:150999511
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Interpretation for ancestry/raw data:
G (Glu): Higher enzyme activity and stable NO production.
T (Asp): Associated with lower NO availability. Carriers of the TT genotype (homozygous Asp) statistically have a slightly higher risk of high blood pressure and often benefit particularly from vascular health measures.
📚 Data Sources
- OMIM: #163729 – Nitric Oxide Synthase 3; NOS3
- dbSNP: rs1799983
- PubMed: NOS3 G894T polymorphism and cardiovascular health.
Biological Function
Associated Conditions
Analyzed Markers
Glu298Asp - T-allele (Asp) associated with lower eNOS activity and reduced NO production.