{{Rsnum
|rsid=429358
|Gene=APOE
|Chromosome=19
|position=44908684
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=C
|GMAF=0.1492
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=APOE
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 2.3 | 97.7
| YRI | 0.0 | 3.2 | 96.8
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
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 [[Apo-ε4]] allele. The Apo-ε4 allele has a strong influence on the risk of [[Alzheimer's disease]]. Both [[deCODEme]] and [[23andMe]] (v3 chip) test for this SNP. 

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 [[Apo-ε4]] 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. 

{{omim
|desc=HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT
|id=107741
|rsnum=429358
|variant=0008
}}
{{omim
|desc=ALZHEIMER DISEASE 2
|id=107741
|rsnum=429358
|variant=0016
}}
{{omim
| id = 107741
| variant = 0022
| desc    = HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4
| rsnum   = 429358
}}
{{ neighbor
| rsid = 28931577
| distance = 39
}}
{{ neighbor
| rsid = 28931578
| distance = 67
}}

{{Venter SNP
|rsid=429358
|allele=C
|frequency=
|uid=1103691153316
|type=heterozygous_SNP
|hugo=APOE
|ensembl gene=ENSG00000130203
|ensembl transcript=ENST00000252486
|sift=TOLERATED
|disease=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.
}}

{{omim
|desc=STROKE, ISCHEMIC
|id=601367
|rsnum=429358
}}
{{PMID Auto
|PMID=19818961
|Title=Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm
|OA=1
}}

{{PharmGKB
|RSID=rs429358
|Name_s=APOE: Cys112Arg (g.7903T>C, c.388T>C, p.Cys130Arg in dbSNP build 130)
|Gene_s=APOE, APOC1
|Feature=
|Evidence=PubMed ID:199847
|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
|Drugs=
|Drug Classes=
|Diseases=Arteriosclerosis; Hyperlipoproteinemia Type III; Hyperlipoproteinemias; Vascular Diseases
|Curation Level=Curated
|PharmGKB Accession ID=PA165109610
}}

{{PMID Auto GWAS
|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
|RiskAllele=
|Pval=NS
|OR=None
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=20406466
|Title=Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey
|OA=1
}}
{{PMID Auto
|PMID=20429872
|Title=Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study
|OA=1
}}
{{PMID Auto
|PMID=20822524
|Title=Isoform of APOE with retained intron 3; quantitation and identification of an associated single nucleotide polymorphism
|OA=1
}}
{{PMID Auto
|PMID=20946940
|Title=Association of variants within APOE; SORL1; RUNX1; BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome
}}

{{PharmGKB
|RSID=rs429358
|Name_s=APOE: 3937T>C, p.Cys112Arg, (g.7903T>C, c.388T>C, p.Cys130Arg in dbSNP build 130)
|Gene_s=APOE, APOC1
|Feature=
|Evidence=PubMed ID:16433808
|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
|Drugs=acitretin
|Drug Classes=
|Diseases=Psoriasis
|Curation Level=Curated
|PharmGKB Accession ID=PA162355841
}}

{{PharmGKB
|RSID=rs429358
|Name_s=APOE:Cys112Arg; 2060T>C; ApoE epsilon 4
|Gene_s=APOE, APOC1
|Feature=
|Evidence=PubMed ID:15809899; PubMed ID:16417409; PubMed ID:17700364
|Annotation=The ApoE epsilon4 variant (2060C) is associated with hyperlipidemia (elevated triglyceride levels) in HIV-infected individuals treated with ritonavir.
|Drugs=ritonavir
|Drug Classes=
|Diseases=HIV; HIV Infections; Hyperlipidemias
|Curation Level=Curated
|PharmGKB Accession ID=PA162360000
}}

{{PharmGKB
|RSID=rs429358
|Name_s=APOE: epsilon3, defined as rs429358 T 130Cys + rs7412 C 176Arg
|Gene_s=APOE, APOC1
|Feature=
|Evidence=PubMed ID:9804125
|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&apos;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
|Drugs=
|Drug Classes=
|Diseases=Neurodegenerative Diseases; Posterior Cortical Atrophy
|Curation Level=Curated
|PharmGKB Accession ID=PA165110264
}}

{{PharmGKB
|RSID=rs429358
|Name_s=APOE: Cys112Arg (g.7903T>C, c.388T>C, p.Cys130Arg in dbSNP build 130)
|Gene_s=APOE, APOC1
|Feature=
|Evidence=PubMed ID:10736278
|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
|Drugs=simvastatin
|Drug Classes=
|Diseases=Infarction; Myocardial Infarction
|Curation Level=Curated
|PharmGKB Accession ID=PA165109612
}}

{{PharmGKB
|RSID=rs429358
|Name_s=APOE: Cys112Arg (g.7903T>C, c.388T>C, p.Cys130Arg in dbSNP build 130)
|Gene_s=APOE, APOC1
|Feature=
|Evidence=PubMed ID:9343467
|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
|Drugs=
|Drug Classes=
|Diseases=Alzheimer Disease
|Curation Level=Curated
|PharmGKB Accession ID=PA165109614
}}

{{PharmGKB
|RSID=rs429358
|Name_s=APOE: Cys112Arg (g.7903T>C, c.388T>C, p.Cys130Arg in dbSNP build 130)
|Gene_s=APOE, APOC1
|Feature=
|Evidence=PubMed ID:18498549
|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
|Drugs=
|Drug Classes=
|Diseases=Cataract; Macular Degeneration
|Curation Level=Curated
|PharmGKB Accession ID=PA165109616
}}
{{PMID Auto
|PMID=21263195
|Title=An APOE Haplotype Associated with Decreased ?4 Expression Increases the Risk of Late Onset Alzheimer's Disease
}}

{{PMID Auto GWAS
|PMID=21123754
|Trait=None
|Title=Genome-wide association study of CSF biomarkers A{beta}1-42, t-tau, and p-tau181p in the ADNI cohort.
|RiskAllele=
|Pval=0.000001
|OR=None
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=22174202
|Title=Apolipoprotein E Gene Polymorphisms Are Strong Predictors of Inflammation and Dyslipidemia in Rheumatoid Arthritis
}}

{{ClinVar
|rsid=429358
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=45411941
|CHROM=19
|GMAF=0.1493
|dbSNPBuildID=80
|SSR=0
|SAO=1
|VP=0x050368000000150517130100
|GENEINFO=APOE:348
|GENE_NAME=APOE
|GENE_ID=348
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.45411941T>C
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.8508; 0.1492
|CLNACC=RCV000019438.27; RCV000019448.28; RCV000019455.26; RCV000019456.26; RCV000019458.22
|CLNDBN=Familial type 3 hyperlipoproteinemia; ALZHEIMER DISEASE 2, DUE TO APOE4 ISOFORM; APOE4(-)-FREIBURG; APOE4 VARIANT
|CLNDSDB=MedGen:SNOMED_CT
|CLNDSDBID=C0020479:398796005
|CLNSRC=GTR; OMIM Allelic Variant
|CLNSRCID=GTR000005674; 107741.0008; 107741.0016; 107741.0022; 107741.0023; 107741.0025
|COMMON=1
|Disease=Familial type 3 hyperlipoproteinemia; ALZHEIMER DISEASE 2; APOE4(-)-FREIBURG; APOE4 VARIANT
}}

{{PMID Auto
|PMID=15113403
|Title=Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
|OA=1
}}

{{PMID Auto
|PMID=15157284
|Title=Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
|OA=1
}}

{{PMID Auto
|PMID=16603077
|Title=Variation at APOE and STH loci and Alzheimer's disease.
|OA=1
}}

{{PMID Auto
|PMID=17048007
|Title=Association of warfarin dose with genes involved in its action and metabolism.
|OA=1
}}

{{PMID Auto
|PMID=17356695
|Title=Variation in GYS1 interacts with exercise and gender to predict cardiovascular mortality.
|OA=1
}}

{{PMID Auto
|PMID=17357073
|Title=Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol.
|OA=1
}}

{{PMID Auto
|PMID=17434289
|Title=Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: patterns of linkage disequilibrium and disease/marker association.
|OA=1
}}

{{PMID Auto
|PMID=17456829
|Title=Evaluation of genetic factors for warfarin dose prediction.
|OA=1
}}

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|Title=Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.
|OA=1
}}

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|Title=A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.
|OA=1
}}

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|Title=Lack of replication of genetic associations with human longevity.
}}

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|Title=Correction of population stratification in large multi-ethnic association studies.
|OA=1
}}

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|Title=Genetic determinants of basal C-reactive protein expression in Filipino systemic lupus erythematosus families.
|OA=1
}}

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|Title=Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat.
|OA=1
}}

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|Title=Low-density lipoprotein and high-density lipoprotein cholesterol levels in relation to genetic polymorphisms and menopausal status: the Atherosclerosis Risk in Communities (ARIC) Study.
|OA=1
}}

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|Title=APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels.
|OA=1
}}

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|Title=Evidence that the gene encoding insulin degrading enzyme influences human lifespan.
|OA=1
}}

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|Title=New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
|OA=1
}}

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|Title=The largest prospective warfarin-treated cohort supports genetic forecasting.
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}}

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|OA=1
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|OA=1
}}

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{{PMID Auto
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|Title=Gender differences in genetic risk profiles for cardiovascular disease.
|OA=1
}}

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|Title=Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE.
|OA=1
}}

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|Title=Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: implication of additional loci.
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}}

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|OA=1
}}

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|Title=Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.
|OA=1
}}

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|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
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}}

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{{PMID Auto
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}}

{{PMID Auto
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}}

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}}

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}}

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}}

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|Title=APOE haplotypes are associated with human longevity in a Central Italy population: evidence for epistasis with HP 1/2 polymorphism.
}}

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|Title=Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study.
|OA=1
}}

{{PMID Auto
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|Title=Evidence from case-control and longitudinal studies supports associations of genetic variation in APOE, CETP, and IL6 with human longevity.
|OA=1
}}

{{GET Evidence
|gene=APOE
|aa_change=Cys130Arg
|aa_change_short=C130R
|impact=pathogenic
|qualified_impact=High clinical importance,  pathogenic
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs429358
|overall_frequency_n=1381
|overall_frequency_d=10200
|overall_frequency=0.135392
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=7
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=3
|qualitycomment_in_vitro=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=2
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|pph2_score=0.002
|genetests_testable=Y
|nblosum100=8
|autoscore=3
|webscore=N
|n_web_uneval=9
|variant_evidence=2
|clinical_importance=2
|summary_short=This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes).
}}

{{PMID Auto
|PMID=23571587
|Title=Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans
|OA=1
}}

{{PMID Auto GWAS
  |PMID=23419831
  |Trait=Alzheimer's disease biomarkers
  |Title=APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
  |RiskAllele=C
  |Pval=5E-14
  |OR=NR
  |ORtxt=NR
  }}

{{PMID Auto
|PMID=24291031
|Title=Association of APOE, GCPII and MMP9 polymorphisms with common diseases and lipid levels in an older adult/elderly cohort
}}

{{PMID Auto
|PMID=22651940
|Title=The SIRT2 polymorphism rs10410544 and risk of Alzheimer's disease in two Caucasian case-control cohorts.
}}

{{PMID Auto
|PMID=22710912
|Title=TOMM40, APOE, and APOC1 in primary progressive aphasia and frontotemporal dementia.
}}

{{PMID Auto
|PMID=22898894
|Title=Pleiotropy and allelic heterogeneity in the TOMM40-APOE genomic region related to clinical and metabolic features of hepatitis C infection.
}}

{{PMID Auto
|PMID=22922093
|Title=Low-density lipoprotein cholesterol and risk of gallstone disease: a Mendelian randomization study and meta-analyses.
}}

{{PMID Auto
|PMID=23100282
|Title=Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.
|OA=1
}}

{{PMID Auto
|PMID=23207651
|Title=A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.
}}

{{PMID Auto
|PMID=23533563
|Title=Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.
|OA=1
}}

{{PMID Auto
|PMID=25085564
|Title=Influence of multiple
}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}