From SNPedia
| Genotype | Effect |
|---|
| rs429358(C;C) | >10x increased risk for Alzheimer's; 1.4x increased risk for heart disease |
| rs429358(C;T) | >3x increased risk for Alzheimer's; 1.4x increased risk for heart disease |
| rs429358(T;T) | common |
This SNP, located in the fourth exon of the ApoE gene, affects the amino acid at position 130 of the resulting protein. The more common rs429358 allele is (T); if the allele is (C) and the same chromosome also harbors the rs7412(C) allele. The combination is known as an ApoE4 allele and it has a strong influence on the risk of Alzheimer's disease. 23andMe does not test for this snp, but deCODEme does.
Many studies have estimated the level of risk, and it varies depending on age, sex, ethnicity, and other factors. One meta-analysis estimated the odds ratios for homozygous rs429358(C;C) individuals compared to the more common ApoE3/ApoE3 homozygotes to be 12x for late-onset Alzheimer's and 61x for early-onset disease. [PMID 10325447]
Meta-analyses have also supported the association between the ApoE4 allele and somewhat increased risk for heart disease, with an odds ratio of 1.42 (CI: 1.26 - 1.61).[PMID 15488874]
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 often - though not completely - predictive of it.
- related to HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT according to omim 107741.0008
- related to HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4 according to omim 107741.0022
| ? | (C;C) (C;T) (T;T) |
|---|
 |
| Venter snp
|
| Source
| plos
|
| Gene
| APOE
|
| allele
| C
|
| frequency
|
|
| sift
| TOLERATED
|
| HuRef
| 1103691153316
|
| Disease Association
| The APOE*4 allele is associated with late onset Alzheimer disease 2 (AD2) (MIM:104310). The APOE*4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease (AD). Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE*4 alleles in 42 families with late onset AD. Thus APOE*4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE*4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known.
|
[PMID 19818961] Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm
| PharmGKB | PA162355841 |
| Name | APOE: 3937T>C, p.Cys112Arg, (g.7903T>C, c.388T>C, p.Cys130Arg in dbSNP build 130) |
| Annotation | Risk or phenotype-associated allele: ApoE E4 allele (rs429358 C, rs7412 C) (130Arg, 176Arg). Phenotype: Increased incidence of chronic plaque psoriasis and guttate psoriasis, but no difference in response of psoriasis to the drug acitretin. Study size: 306 cases, 137 controls. Study population/ethnicity: Patients with chronic plaque psoriasis (n = 212), guttate psoriasis (n = 94). Significance metric(s): p =0.008 Type of association: CO; GN |
| Gene | APOC1, APOE |
| Featue | |
| Evidence | PubMed ID:16433808 |
| Drugs | acitretin |
| Diseases | Psoriasis |
| Curation Level | Curated |
| GWAS snp
|
| PMID
| [PMID 20100581]
|
| Trait
| Brain imaging
|
| Title
| Whole Genome Association Study of Brain-Wide Imaging Phenotypes for Identifying Quantitative Trait Loci in MCI and AD: A Study of the ADNI Cohort
|
| Risk Allele
|
|
| P-val
| NS
|
| Odds Ratio
| None None
|
