Basic information of AQP4 :
| Official Symbol of Gene | AQP4 |
| Species | Homo sapiens |
| Entrez Gene ID | 361 |
| Official Full Name | aquaporin 4 |
| Also known as | MIWC; WCH4; hAQP4 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000171885 MIM:600308; AllianceGenome:HGNC:637 |
| Map Location | 18q11.2 |
| Variation Type | SNP |
| refSNP ID | NA |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | MS |
| Population | Korean |
| Sample Size | 99MS |
Literature information of multiple sclerosis :
| Pubmed ID | 24361961 |
| Year | 2014 |
| Title | Lack of association between AQP4 polymorphisms and risk of inflammatory demyelinating disease in a Korean population |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | Statistical analyses showed no significant associations between AQP4 SNPs/haplotypes and development of IDD, including MS and NMO (P>0.05). Further replications in larger cohorts and other ethnic groups are needed. |
| Mechanism/Pathway | Multiple sclerosis (MS) and neuromyelitis optica (NMO) are demyelinating autoimmune inflammatory diseases that affect the central nervous system (CNS). Previous genome-wide or candidate gene studies have suggested that genetic variants might be associated with the risk of MS or NMO. |
