NOS3
LOCUS ID4846
GENE_SYMBOLNOS3
GENE NAMEnitric oxide synthase 3
SYNONYMNSeNOS, ECNOS
CHROMOSOME7
HOMOLOGENE ID504
microRNAsNANA
GENE SUMMARY
Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. Endothelial nitric oxide synthase (E-NOS) gene G894T polymorphism has been reported to be associated with endothelial dysfunction leading to DN. 2. Our data demonstrate that a modest decrease in eNOS, comparable to that associated with human NOS3 variants, is sufficient to enhance diabetic nephropathy independently of its effects on blood pressure (BP).25606424 , 19077211
Cardiovascular1. Multiple changes in endothelial function and eNOS activity accompany the onset and development of Type 2 diabetes mellitus (T2DM) and contribute to the development of cardiovascular disease (CVD). 2- We show here a strong independent association between eNOS genotype and AMI in patients with T2DM. This suggests a synergistic effect of the eNOS Asp298 allele and diabetes, and confirms the role of eNOS as an important pathological bottleneck for cardiovascular disease in patients with T2DM.22044039 , 19077211
Retinopathy1. Genetic polymorphisms of eNOS gene have been suggested to play a role in nitric oxide (NO) abnormalities which may contribute to the development and progression of DR. 2. We observed a significant association between the 4a/b polymorphism of the eNOS and DR in our West African cohort23085930 , 18079690
Atherosclerosis1. Direct eNOS activation provides atheroprotection in diabetes-accelerated atherosclerosis.26116699
Neuropathy1. The study indicates association of RAS variants with obesity and nephropathy, and an opposite effect of NOS3 VNTR and NOS3 G894T on the occurrence of combined microangiopathy.21406182