APOE
| is a | gene |
| is | mentioned by |
| Full name | apolipoprotein E |
| EntrezGene | 348 |
| PheGenI | 348 |
| VariationViewer | 348 |
| dbSNP | 348 |
| SADR | 348 |
| HugeNav | 348 |
| wikipedia | APOE |
| APOE | |
| gopubmed | APOE |
| EVS | APOE |
| HEFalMp | APOE |
| 23andMe | APOE |
| UniProt | P02649 |
| Ensembl | ENSG00000130203 |
| OMIM | 107741 |
| EVS | APOE |
| # SNPs | 24 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| Rs11083750 | 0 | 45,411,858 | |
| Rs121918392 | 0 | 45,411,034 | |
| Rs121918393 | 0 | 45,412,013 | |
| Rs121918394 | 0 | 45,412,043 | |
| Rs121918395 | 0 | 45,412,289 | |
| Rs121918396 | 0 | 45,412,236 | |
| Rs121918397 | 0 | 45,412,041 | |
| Rs121918398 | 0 | 45,412,428 | |
| Rs121918399 | 0 | 45,411,100 | |
| Rs12982192 | 0 | 45,411,259 | |
| Rs28931576 | 0 | 45,411,151 | |
| Rs28931577 | 0 | 45,411,902 | |
| Rs28931578 | 0 | 45,412,008 | |
| Rs28931579 | 0 | 45,412,493 | |
| Rs405509 | 45,408,836 | ||
| Rs429358 | 1.2 | 45,411,941 | |
| Rs439401 | 45,414,451 | ||
| Rs440446 | 0 | 45,409,167 | |
| Rs449647 | 45,408,564 | ||
| Rs7412 | 0 | 45,412,079 | |
| Rs769446 | 0 | 45,408,628 | |
| Rs769449 | 0 | 45,410,002 | |
| Rs769452 | 0 | 45,411,110 | |
| Rs769455 | 0 | 45,412,040 |
There are three relatively common allelic variants of ApoE, known as ApoE-ε2, ApoE-ε3, and ApoE-ε4. The proteins produced by these genes are called ApoE2, ApoE3, and ApoE4. The most common variant overall is the "standard" ApoE-ε3, and therefore more people inherited one ApoE-ε3 from each parent than any other of the possible pairs of variants. Note that each of these types can actually have additional changes too, so there are different subtypes as well.
Promethease uses:
- gs189 Apo-ε1 allele = rs429358(C) + rs7412(T) = the rare missing allele
- gs186 Apo-ε2 allele = rs429358(T) + rs7412(T)
- gs187 Apo-ε3 allele = rs429358(T) + rs7412(C) = the most common
- gs188 Apo-ε4 allele = rs429358(C) + rs7412(C) = increased Alzheimer's risk
- gs216 Apo-ε4/ε4 allele = rs429358(C;C) + rs7412(C;C) = very increased Alzheimer's risk
Patients with Alzheimer's disease who have at least one ApoE-ε4 allele were found to benefit from a therapy that was ineffective in those who lacked ApoE-ε4 [1]
Note: Although ApoE status is technically defined by these two SNPs, rs429358 and rs7412, a SNP in the adjacent ApoC1 gene, rs4420638, is co-inherited with ApoE and thus predictive of it, as published in the following report:
- [PMID 17192785] The researchers found that on testing DNA samples from 1,086 well-characterized Alzheimer's disease cases, a single SNP (rs4420638) lying 14 kb distal to the ApoE locus has a powerful association with late-onset AD (corrected p value was 5.3 x 10 e-34). No other SNP showed as robust an association. The authors estimated that people with two ApoE-ε4 copies (i.e. presumably indicated by having either the rs4420638(G;G) or rs429358(C;C) genotypes) have a 25-fold increased risk for developing the disease compared to Apo-ε3/Apo-ε3 carriers.
[2] uses old allele format
Apo-ε4 carriers may have their risk of developing Alzheimer's disease modified by SNPs elsewhere in their genomes. For example:
- rs2373115, a SNP in the GAB2 gene
- Inheritance of the rs1799724(T) allele appears to synergistically increase the risk of Alzheimer's in ApoE-ε4 carriers and is associated with altered CSF Abeta42 levels [PMID 15895461]
- A haplotype of 3 SNPs in the POLD1 gene; the combined presence of this POLD1 I-G-T haplotype and the ApoE-ε4 allele almost doubles the risk of AD (odds ratio: 10.09, CI: 3.88-26.25, =<0.0001) compared to ApoE-ε4 carriers alone.[PMID 17498878]
A study of 2,000+ individuals living in Costa Rica found a gene-diet interaction involving the ApoE alleles. Specifically, high fat diets cause a greater LDL cholesterol response and higher heart attack risk in ApoE-ε2 and ApoE-ε4 carriers compared with ApoE-ε3 homozygotes.[PMID 18494374]
abstract ApoE-ε4 and herpes simplex virus type 1 appear related to the development of Alzheimer's disease.
