Basic information of NOS3 :
| Official Symbol of Gene | NOS3 |
| Species | Homo sapiens |
| Entrez Gene ID | 4846 |
| Official Full Name | nitric oxide synthase 3 |
| Also known as | eNOS; ECNOS |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000164867 MIM:163729; AllianceGenome:HGNC:7876 |
| Map Location | 7q36.1 |
| Variation Type | SNP |
| refSNP ID | rs2070744 |
Sample information of multiple sclerosis:
| Detected Sample | whole blood |
| Sample Detail | N/A |
| Detected Method | ARMS-PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Iranian |
| Sample Size | 78 patients with MS / 80 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 29158878 |
| Year | 2017 |
| Title | Molecular Analysis of rs2070744 and rs1799983 Polymorphisms of NOS3 Gene in Iranian Patients With Multiple Sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Statistical analysis showed that c.-813C>T polymorphism is associated with risk of MS.The prevalence of C allele was significantly higher in patients compared to the control group . |
| Mechanism/Pathway | Multiple Sclerosis (MS) is a neuroimmunological disease, causing severe neurological disabilities as a result of demyelination.An important role for Nitric Oxide (NO) in the pathogenesis of MS and its influence on the various aspects of the disorder, including changes in synaptic transmission, inflammation, and neuronal death were pointed by abundant evidence.An isoform of NO producing enzymes is endothelial Nitric Oxide Synthase (NOS3) that is constitutively expressed in endothelial cells.This enzyme has been found to play a prominent role in both vasculogenesis and angiogenesis.There are two common polymorphisms of NOS3 gene in many populations that are associated with NOS3 enzyme activity and production. |
