Basic information of NOS2 :
| Official Symbol of Gene | NOS2 |
| Species | Homo sapiens |
| Entrez Gene ID | 4843 |
| Official Full Name | nitric oxide synthase 2 |
| Also known as | NOS; INOS; NOS2A; HEP-NOS |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000007171 MIM:163730; AllianceGenome:HGNC:7873 |
| Map Location | 17q11.2 |
| Variation Type | SNP |
| refSNP ID | two promoter region microsatellites, (CCTTT)n and (TAAA)n, the original exon 10 C/T SNP, and an additional SNP within exon16, C/T (S569L) |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | microsatellite markers |
| Disease | MS |
| Disease subtype | N/A |
| Population | African American |
| Sample Size | 613 MS families/276 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 15174013 |
| Year | 2004 |
| Title | Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Significant PDT results were maintained for the NOS2A exon 10 C/T SNP in single-case families only and were strongest in HLA-DR2–positive families .Although there was no evidence for association with any chromosome 17q11 markers or haplotypes in the multicase families modest evidence for linkage was observed for the NOS2A (CCTTT)n promoter polymorphism and was also restricted to families in which all patients carried at least one HLA-DR2 allele.Associations between the NOS2A polymorphisms were evaluated in a sample of 232 unrelated white controls.There was significant evidence for strong LD between each pair of the (CCTTT)n, (TAAA)n, exon 10 C/T (D346D), and exon 16 C/T (S569L) polymorphisms within NOS2A. |
| Mechanism/Pathway | The NOS2A locus encodes one of the three isoforms of nitric oxide (NO) synthase, inducible NOS2 oriNOS, and is a very plausible MS candidate gene based on the well-known biological functions attributed to this enzyme. |
