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From SNPedia

Geno Mag Summary
(C;C) 1 part of APOE4 genoset evaluation
(C;T) 1 part of APOE4 genoset evaluation
(T;T) 1 part of APOE4 genoset evaluation
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs7412
1000 genomesrs7412
GWAS Ctlgrs7412
Max Magnitude1
? (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 Apoε2 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.


[PMID 20406466OA-icon.png] Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey

[PMID 20429872OA-icon.png] Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study

[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

GWAS snp
PMID [PMID 22286219OA-icon.png]
Title Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
Risk Allele
P-val 3E-58
Odds Ratio 0.7500 None

Risk Rs7412(T;T)
Alt Rs7412(T;T)
Reference Rs7412(C;C)
Significance Other
Disease Familial type 3 hyperlipoproteinemia Apolipoproteinemia E1 Atorvastatin response - Efficacy not provided
Variation info
CLNDBN Familial type 3 hyperlipoproteinemia Apolipoproteinemia E1 atorvastatin response - Efficacy not provided
Reversed 0
HGVS NC_000019.9:g.45412079C>T
CLNSRC OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein)
CLNACC RCV000019428.28, RCV000019439.27, RCV000019452.30, RCV000019454.28, RCV000211178.1, RCV000346955.1,

[PMID 15113403OA-icon.png] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.

[PMID 15157284OA-icon.png] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.

[PMID 16603077OA-icon.png] Variation at APOE and STH loci and Alzheimer's disease.

[PMID 17356695OA-icon.png] Variation in GYS1 interacts with exercise and gender to predict cardiovascular mortality.

[PMID 17357073OA-icon.png] 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.

[PMID 17434289OA-icon.png] Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: patterns of linkage disequilibrium and disease/marker association.

[PMID 17658295] Association of ApoE genetic variants with obstructive sleep apnea in children.

[PMID 17672902OA-icon.png] Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.

[PMID 17903299OA-icon.png] A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.

[PMID 18034366] Lack of replication of genetic associations with human longevity.

[PMID 18216863OA-icon.png] Genetic determinants of basal C-reactive protein expression in Filipino systemic lupus erythematosus families.

[PMID 18254975OA-icon.png] Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat.

[PMID 18275964OA-icon.png] Low-density lipoprotein and high-density lipoprotein cholesterol levels in relation to genetic polymorphisms and menopausal status: the Atherosclerosis Risk in Communities (ARIC) Study.

[PMID 18378515OA-icon.png] APOE/C1/C4/C2 hepatic control region polymorphism influences plasma apoE and LDL cholesterol levels.

[PMID 18513389OA-icon.png] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18823527OA-icon.png] A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.

[PMID 18974842OA-icon.png] Gender differences in genetic risk profiles for cardiovascular disease.

[PMID 18976728OA-icon.png] Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE.

[PMID 19001172OA-icon.png] Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: implication of additional loci.

[PMID 19014573OA-icon.png] Application of two machine learning algorithms to genetic association studies in the presence of covariates.

[PMID 19058936OA-icon.png] A polymorphism of apolipoprotein E (APOE) gene is associated with age at natural menopause in Caucasian females.

[PMID 19118814OA-icon.png] Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.

[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[PMID 19262956] GAB2 gene does not modify the risk of Alzheimer's disease in Spanish APOE 4 carriers.

[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

[PMID 19285141OA-icon.png] Genetic determinants of target and novelty-related event-related potentials in the auditory oddball response.

[PMID 19299407OA-icon.png] Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.

[PMID 19336475OA-icon.png] Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

[PMID 19377787] Association between apolipoprotein E genotype, serum lipids, and colorectal cancer in Brazilian individuals.

[PMID 19541455] Apolipoprotein-E gene variants associated with cardiovascular risk factors in antipsychotic recipients.

[PMID 19668339OA-icon.png] Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.

[PMID 19756043OA-icon.png] A simple and efficient algorithm for genome-wide homozygosity analysis in disease.

[PMID 19787382OA-icon.png] Introduction to the DISRUPT postprandial database: subjects, studies and methodologies.

[PMID 19802338OA-icon.png] Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.

[PMID 19913121OA-icon.png] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

[PMID 19936222OA-icon.png] Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.

[PMID 19951432OA-icon.png] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

[PMID 20031563] Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics Study.

[PMID 20082485OA-icon.png] Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women.

[PMID 20451875OA-icon.png] Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans.

[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 20663622] A susceptible haplotype within APOE gene influences BMD and intensifies the osteoporosis risk in postmenopausal women of Northwest India.

[PMID 20682755OA-icon.png] A pilot study of gene/gene and gene/environment interactions in Alzheimer disease.

[PMID 20832063] Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.

[PMID 21215387OA-icon.png] IQ, educational attainment, memory and plasma lipids: associations with apolipoprotein E genotype in 5995 children.

[PMID 21285406] Low-density lipoprotein cholesterol and the risk of cancer: a mendelian randomization study.

[PMID 21379329OA-icon.png] Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.

[PMID 21647738OA-icon.png] Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.

[PMID 21689001] Association study between apolipoprotein E gene polymorphism and diabetic nephropathy in a Taiwanese population.

[PMID 21703254] APOE haplotypes are associated with human longevity in a Central Italy population: evidence for epistasis with HP 1/2 polymorphism.

GWAS snp
PMID [PMID 23067351OA-icon.png]
Trait LDL cholesterol
Title High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE.
Risk Allele
P-val 2E-9
Odds Ratio 12.30 [8.4-16.3] mg/dL decrease

[PMID 23050023OA-icon.png] Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals

[PMID 24291031] Association of APOE, GCPII and MMP9 polymorphisms with common diseases and lipid levels in an older adult/elderly cohort

[PMID 22651940] The SIRT2 polymorphism rs10410544 and risk of Alzheimer's disease in two Caucasian case-control cohorts.

[PMID 22710912] TOMM40, APOE, and APOC1 in primary progressive aphasia and frontotemporal dementia.

[PMID 22715478] Genotypes associated with lipid metabolism contribute to differences in serum lipid profile of GH-deficient adults before and after GH replacement therapy.

[PMID 22898894] Pleiotropy and allelic heterogeneity in the TOMM40-APOE genomic region related to clinical and metabolic features of hepatitis C infection.

[PMID 22922093] Low-density lipoprotein cholesterol and risk of gallstone disease: a Mendelian randomization study and meta-analyses.

[PMID 23430611] Identification of a functional apolipoprotein E promoter polymorphism regulating plasma apolipoprotein E concentration.

[PMID 23533563OA-icon.png] Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.

[PMID 25085564OA-icon.png] Influence of multiple

GWAS snp
PMID [PMID 24023260OA-icon.png]
Trait Lipid traits
Title Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
Risk Allele T
P-val 3E-53
Odds Ratio .48 [0.42-0.54] unit decrease

[PMID 26043189] Genetic determinants of quantitative traits associated with cardiovascular disease risk

[PMID 26175754OA-icon.png] DNA methylation and single nucleotide variants in the brain-derived neurotrophic factor (BDNF) and oxytocin receptor (OXTR) genes are associated with anxiety/depression in older women

[PMID 26405973] Gene environment interaction of GALNT2 and APOE gene with hypertension in the Chinese Han Population

[PMID 26404360OA-icon.png] Effects of APOE rs429358, rs7412 and GSTM1/GSTT1 Polymorphism on Plasma and Erythrocyte Antioxidant Parameters and Cognition in Old Chinese Adults

[PMID 25545672] Apolipoprotein E gene polymorphisms in relation to chronic periodontitis, periodontopathic bacteria, and lipid levels

[PMID 28189700OA-icon.png] CSF protein changes associated with hippocampal sclerosis risk gene variants highlight impact of GRN/PGRN.

[PMID 28480219OA-icon.png] Apolipoprotein E Genotype in Very Preterm Neonates with Intrauterine Growth Restriction: An Analysis of the German Neonatal Network Cohort.

[PMID 28512139OA-icon.png] A genome-wide association meta-analysis on lipoprotein(a) concentrations adjusted for apolipoprotein(a) isoforms.

[PMID 29532745] Association of smoking but not HLA-DRB1*15:01, APOE or body mass index with brain atrophy in early multiple sclerosis.

[PMID 32622117] Trace elements and APOE polymorphisms in pregnant women and their new-borns.

[PMID 33163038OA-icon.png] Lack of association between genetic variants in the 19q13.32 region and CHD risk in the Algerian population: a population-based nested case-control study.

[PMID 33204816OA-icon.png] Haplotype architecture of the Alzheimer's risk in the APOE region via co-skewness.

[PMID 33296721OA-icon.png] Quantile-specific heritability of total cholesterol and its pharmacogenetic and nutrigenetic implications.

[PMID 33437219OA-icon.png] Influence of CYP4F2, ApoE, and CYP2A6 gene polymorphisms on the variability of Warfarin dosage requirements and susceptibility to cardiovascular disease in Jordan.