G
Genetic Archaeology
GENETIC ARCHAEOLOGY // PROFILE

NOS3

Nitric Oxide Synthase 3

CHR 7
7q36.1

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.

📍 Chromosomal Position

7q36.1 (Chromosome 7)

🧬 Gene Category

Metabolism / Cardiovascular

🔬 Inheritance

Complex

📊 Prevalence (rs1799983)

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:

rs1799983
7:150999511
Allele 1

G

/

Allele 2

T

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

Nitric oxide is an important signaling molecule for relaxing vascular muscles (vasodilation). Reduced NO production impairs blood flow and increases cardiovascular risk.

Associated Conditions

Hypertension Coronary Heart Disease Preeclampsia Stroke
Molecular Analysis

Analyzed Markers

rs1799983 Risk Factor
Pos: 7:150999511 | Alleles: G/T

Glu298Asp - T-allele (Asp) associated with lower eNOS activity and reduced NO production.