From SNPedia
| Geno
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Mag
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Summary
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| (C;C)
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more likely to gain weight if taking olanzapine
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| (C;T)
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more likely to gain weight if taking olanzapine
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| (T;T)
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normal
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| ? | (C;C) (C;T) (T;T) | 28 |
|---|
 |
The ancestral allele is C. The
rs7412(T) allele, also known as Arg176Cys, generally indicates the presence of an ApoE2 allele; see the
ApoE page for a full discussion of the ApoE alleles and their association with
Alzheimer's disease.
Another SNP related to ApoE is rs429358.
In a study of 67 mostly Caucasian patients prescribed the atypical antipsychotic olanzapine, carriers of a rs7412(C) allele were more likely to gain significant weight compared to rs7412(T;T) carriers, as assessed by physiogenomic analysis of corresponding weight profiles. Two other SNPs, rs5092 and rs4765623, were also significantly associated with weight profiles in these patients.[PMID 17199131]
| OMIM | 107741 |
| Desc | HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2-FUKUOKA |
| Variant | 0019 |
| Related | also |
| PharmGKB | PA165109611 |
| Name | APOE: Arg158Cys (g.8041C>T, c.526C>T, p.Arg176Cys in dbSNP build 130) |
| Annotation | Risk or phenotype-associated allele: The ApoE E2 allele is a combination of rs429358 T (130Cys) and rs7412 T (176Cys). Phenotype: The Apo E2 allele contributes to increased risk of type III hyperlipoproteinemia, characterized by increased cholesterol and triglyceride levels, the presence of beta-VLDL (cholesterol-enriched remnants of intestinal chylomicrons and hepatic VLDL), xanthomas, and premature vascular disease, both coronary heart disease and peripheral artery disease. Study size: Three multiplex, multigenerational pedigrees, and case control study of 5 probands versus 94 controls. Study population/ethnicity: Germans. Significance metric(s): N/A. Type of association: CO; GN |
| Gene | APOE, APOC1 |
| Featue | |
| Evidence | PubMed ID:199847 |
| Drugs | |
| Diseases | Arteriosclerosis, Hyperlipoproteinemia Type III, Hyperlipoproteinemias, Vascular Diseases |
| Curation Level | Curated |
[PMID 20406466] Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey
[PMID 20429872] Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study
| PharmGKB | PA162355842 |
| Name | APOE: 4075C>T, p.Arg158Cys, (g.8041C>T, c.526C>T, p.Arg176Cys 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 | APOE, APOC1 |
| Featue | |
| Evidence | PubMed ID:16433808 |
| Drugs | acitretin |
| Diseases | Psoriasis |
| Curation Level | Curated |
| PharmGKB | PA162360001 |
| Name | APOE: Arg158Cys, 2198C>T, ApoE epsilon 2 |
| Annotation | The ApoE epsilon2 variant (2198T) is associated with hyperlipidemia (elevated triglyceride levels) in HIV-infected individuals treated with ritonavir. |
| Gene | APOE, APOC1 |
| Featue | |
| Evidence | PubMed ID:15809899; PubMed ID:16417409; PubMed ID:17700365 |
| Drugs | ritonavir |
| Diseases | HIV, HIV Infections, Hyperlipidemias |
| Curation Level | Curated |
| PharmGKB | PA165110265 |
| Name | APOE: epsilon3, defined as rs429358 T 130Cys + rs7412 C 176Arg |
| Annotation | Risk or phenotype-associated allele: APOE: epsilon3/epsilon3 (defined as rs429358 T/T 130Cys/Cys + rs7412 C/C 176Arg/Arg). Phenotype: Neurodegenerative disease characterized by asymmetric parietal atrophy, visuospatial dysfunction, incomplete Balint's syndrome, environmental agnosia, left-sided motor symptoms including dystonic postures and myoclonus in the left hand, without significant dementia (as in posterior cortical atrophy) was observed in a woman with early-onset neurodegenerative disease progressing 10 years from onset at age 52 to death. Study size: 1. Study population/ethnicity: Right-handed female/Japanese. Significance metric(s): non significant case report. Type of association: CO; GN |
| Gene | APOE, APOC1 |
| Featue | |
| Evidence | PubMed ID:9804125 |
| Drugs | |
| Diseases | Neurodegenerative Diseases, Posterior Cortical Atrophy |
| Curation Level | Curated |
| PharmGKB | PA165109613 |
| Name | APOE: Arg158Cys (g.8041C>T, c.526C>T, p.Arg176Cys in dbSNP build 130) |
| Annotation | Risk or phenotype-associated allele: The ApoE E4 allele is a combination of rs429358 C (130Arg) and rs7412 C (176Arg). Phenotype: The Apo E4 allele is associated with 80 percent increased risk of dying (mortality risk ratio = 1.8) compared with other patients upon evaluation at 5.5 years following survival of myocardial infarction. ApoE E4 carriers who had high Lp(a) levels had a risk ratio of 3.7 of coronary death. Simvastatin treatment reduced the mortality risk to 0.33 in Apoe E4 carriers and to 0.66 in other patients (p = 0.23 for treatment by genotype interaction). Study size: 966 survivors of myocardial infarction enrolled in the Scandinavian Simvastatin Survival Study. Study population/ethnicity: Danish and Finnish. Significance metric(s): mortality risk ratio = 1.8. Type of association: CO; PD; GN |
| Gene | APOE, APOC1 |
| Featue | |
| Evidence | PubMed ID:10736278 |
| Drugs | simvastatin |
| Diseases | Infarction, Myocardial Infarction |
| Curation Level | Curated |
| PharmGKB | PA165109615 |
| Name | APOE: Arg158Cys (g.8041C>T, c.526C>T, p.Arg176Cys in dbSNP build 130) |
| Annotation | Risk or phenotype-associated allele: The APOE E4 allele is a combination of rs429358 C (130Arg) and rs7412 C (176Arg). Phenotype: The APOE E4 allele (130Arg, 176Arg) was studied relative to the E3 (130Cys, 176Arg) and E2 (130Cys, 176Cys) alleles. Relative to the homozygous E3/E3 diplotype, Caucasians showed increased risk of Alzheimer Disease (AD): OR = 2.6 for E4/E2, OR = 3.2 for E4/E3, OR = 14.9 for E4/E4. The E2 allele was protective against risk of AD: OR = 0.6 for E2/E2, OR = 0.6 for E3/E2. Japanese showed greater increased risk of AD than Caucasians: OR=5.6 for E3/E4, OR = 33.1 for E4/E4. Study size: 5930 patients who met criteria for probable or definite AD, and 8607 controls without dementia. Study population/ethnicity: A clinic-/autopsy-based case-control study of patients between 40 and 90 years old recruited from clinical, community, and brain bank sources./Caucasian, African American, Hispanic, Japanese. Significance metric(s): OR. Type of association: CO; GN |
| Gene | APOE, APOC1 |
| Featue | |
| Evidence | PubMed ID:9343467 |
| Drugs | |
| Diseases | Alzheimer Disease |
| Curation Level | Curated |
| PharmGKB | PA165109617 |
| Name | APOE: Arg158Cys (g.8041C>T, c.526C>T, p.Arg176Cys in dbSNP build 130) |
| Annotation | Risk or phenotype-associated allele: The E3 and E4 alleles of APOE, defined by the combined genotype at rs429358T>C (Cys130Arg) and rs7412C>T (Arg176Cys). Phenotype: The APOE E3 allele (130Cys, 176Arg) and E4 (130Arg, 176Arg) alleles were protective. Carriers of the E3 allele had significantly higher average macular thickness in both eyes (p = 0.012), and significantly better visual acuity (p = 0.041) than non-E3 carriers. E4 carriers showed reduced incidence of cataract than non-APOE4 carriers (p = 0.039). Study size: 32 patients who underwent cataract surgery in both eyes, and 56 controls. Study population/ethnicity: Patients from London, England aged 50-75 years old. Significance metric(s): p-value. Type of association: CO; GN |
| Gene | APOE, APOC1 |
| Featue | |
| Evidence | PubMed ID:18498549 |
| Drugs | |
| Diseases | Cataract, Macular Degeneration |
| Curation Level | Curated |
[PMID 21263195] An APOE Haplotype Associated with Decreased ?4 Expression Increases the Risk of Late Onset Alzheimer's Disease
[PMID 22174202] Apolipoprotein E Gene Polymorphisms Are Strong Predictors of Inflammation and Dyslipidemia in Rheumatoid Arthritis
