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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 SNP
refSNP ID N/A

Sample information of multiple sclerosis:

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

Literature information of multiple sclerosis :

Pubmed ID 11990879
Year 2002
Title APOE genotypes and disease severity in multiple sclerosis

Results of 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.