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 | N/A |
Sample information of multiple sclerosis:
| Detected Sample | EDTA-treated peripheral blood leukocytes |
| Sample Detail | N/A |
| Detected Method | PCR-RFLP |
| Disease | MS |
| Disease subtype | RRMS, PPMS, SPMS |
| Population | Iranian |
| Sample Size | 147 MS cases / 168 control subjects |
Literature information of multiple sclerosis :
| Pubmed ID | 22698480 |
| Year | 2012 |
| Title | Apolipoprotein E polymorphisms status in Iranian patients with multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | It seems that individuals carrying APOE-ε4 allele and/or APOE-ε3ε4 genotype develop MS two times more than non-carriers.Also APOE-ε2ε3 genotype or APOE-ε2 allele may have a protective role against MS development in Iranian population. |
| Mechanism/Pathway | The APOE gene consists of four exons and produces ApoE which is a 299 amino acid polypeptide.These different amino acids alter the protein's structure and influence its lipid association and receptor binding. ApoE is synthesized predominantly by astrocytes in the nervous system and delivers cholesterol and other essential lipids to neurons through members of the low density lipoprotein receptor family. This process is important in remodeling and repair of nerve tissue.ApoE also has immunomodulatory properties and plays an important role in modifying brain inflammatory responses. |
