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
Dyslipidemia1. The risk also holds for the G894T and T-786C eNOS gene polymorphisms when excluding patients with dyslipidemia and cardiovascular diseases (p?=?1.7?10-4 and p?=?3.2?10-5 , respectively).30101547