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 | rs16942851, rs1058424, rs335929, rs335931, rs162007, rs3763043 |
Sample information of multiple sclerosis:
| Detected Sample | whole blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Han Chinese |
| Sample Size | 87 MS patinets / 109 healthy volunteers |
Literature information of multiple sclerosis :
| Pubmed ID | 28123825 |
| Year | 2016 |
| Title | No association of AQP4 polymorphisms with neuromyelitis optica and multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | This study showed no significant association of common AQP4 SNPs with MS, strongly suggesting that polymorphisms of AQP4 gene are unlikely to confer MS susceptibility, at least in Northern Han Chinese population. |
| Mechanism/Pathway | Unlike NMO, various genetic and environmental factors contribute to etiology of MS. AQP4, expressed in astrocytes in the brain, spinal cord, optic nerve and supportive cells in sensory organs, is the most abundantly distributed water channel in CNS. |
