Home Details
| 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 | SNP |
| refSNP ID | N/A |
| Detected Sample | N/A |
| Sample Detail | N/A |
| Detected Method | either a PCR-based solid-phase minisequencing method,or a sequencing-by-synthesis method involving luminometric detection of pyrophosphate |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 140 severe MS patients / 124 benign MS patients |
| Pubmed ID | 11990879 |
| Year | 2002 |
| Title | APOE genotypes and disease severity in multiple sclerosis |
| Risk Type | Phenotypic risk |
| Main Result | Positive |
| Result | In accordance with our previously reported preliminary results,31 however, the e3/e4 genotype was more common in severe MS than in benign MS, and severe-MS patients were more often carriers of the e4 allele than benign-MS patients.At the same time, homozygosity for e4 was more common in benign MS than severe MS. |
| Mechanism/Pathway | In the central nervous system (CNS), apoE is synthesized and secreted by glial cells, particularly astrocytes;it serves as a ligand mediating the uptake of plasma lipoproteins, which are vital for membrane repair, and may have neurotrophic, anti-oxidant and immunomodulatory effects as well. The e2, e3 and e4 alleles, which in reality represent cis-positioned combinations of allelic variants at two coding region single-nucleotide polymorphisms (SNPs), encode protein isoforms, designated E2, E3 and E4, that display differential receptor-binding affinity. |

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