Basic information of APOE :
| Official Symbol of Gene | APOE |
| Species | Homo sapiens |
| Entrez Gene ID | 348 |
| Official Full Name | apolipoprotein E |
| Also known as | AD2; LPG; APO-E; ApoE4; LDLCQ5 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000130203 MIM:107741; AllianceGenome:HGNC:613 |
| Map Location | 19q13.32 |
| Variation Type | Allele |
| refSNP ID | NA |
Sample information of multiple sclerosis:
| Detected Sample | CSF |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | MS |
| Population | NA |
| Sample Size | 121 patients/45controls |
Literature information of multiple sclerosis :
| Pubmed ID | 9463752 |
| Year | 1998 |
| Title | Apolipoprotein E polymorphism in multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | Furthermore, we show that no particular apo E allele was associated with familial or sporadic MS. These results are different from those reported for AD. |
| Mechanism/Pathway | Three common variants of apo E are present in the general human population, c2, d and Fa coding for three isoforms (apo E2, apo E3, apo E4). These isoforms differ from each other by a single aminoacid substitution. The most frequent phenotype in the normal population is apo E3/apo E3 and the two minor isoforms are associated with altered recognition of specific receptors.Recent genetic evidence suggests that inheritance of the c4 allele is associated with increased risk for sporadic and earlier onset of Alzheimer's disease (AD).2 In contrast, Rubinsztein found no influence of the apo E phenotype in a small group of patients with multiple sclerosis (MS) |
