openSNP | rs429358

Links to SNPedia

Title	Summary
rs429358 C/T	>3x increased risk for alzheimer's; 1.4x increased risk for heart disease
rs429358 T/T	Common
rs429358 C/C	One of 2 snps relevant to classifying apoe genotype

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Jenny Fredriksson	Variation in GYS1 Interacts with Exercise and Gender to Predict Cardiovascular Mortality	2007	4111
Catherine A. MacLeod	PRKCA Polymorphism Changes the Neural Basis of Episodic Remembering in Healthy Individuals	2014	1319
Perry G. Ridge	Alzheimer’s Disease: Analyzing the Missing Heritability	2013	10824
Sebastiaan M. Bol	Single Nucleotide Polymorphism in Gene Encoding Transcription Factor Prep1 Is Associated with HIV-1-Associated Dementia	2012	2990
M. Teresa Tejedor	The Apolipoprotein E Polymorphism rs7412 Associates with Body Fatness Independently of Plasma Lipids in Middle Aged Men	2014	2738
Donald M. Lyall	Alzheimer’s Disease Susceptibility Genes APOE and TOMM40, and Hippocampal Volumes in the Lothian Birth Cohort 1936	2013	2905
Xianlin Han	Metabolomics in Early Alzheimer's Disease: Identification of Altered Plasma Sphingolipidome Using Shotgun Lipidomics	2011	14389
Natalie A. Twine	Whole Transcriptome Sequencing Reveals Gene Expression and Splicing Differences in Brain Regions Affected by Alzheimer's Disease	2011	38279
Akinori Miyashita	SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians	2013	11460
Caren E. Smith	Apolipoprotein C3 Polymorphisms, Cognitive Function and Diabetes in Caribbean Origin Hispanics	2009	4356
Annick M. McIntosh	The Apolipoprotein E (APOE) Gene Appears Functionally Monomorphic in Chimpanzees (Pan troglodytes)	2012	7666
Christopher Bryant	Mapping the Genetic Variation of Regional Brain Volumes as Explained by All Common SNPs from the ADNI Study	2013	3175
Yun Li	An Epigenetic Signature in Peripheral Blood Associated with the Haplotype on 17q21.31, a Risk Factor for Neurodegenerative Tauopathy	2014	7067
Logan Dumitrescu	Genetic Determinants of Lipid Traits in Diverse Populations from the Population Architecture using Genomics and Epidemiology (PAGE) Study	2011	8335
Daniel I. Chasman	Forty-Three Loci Associated with Plasma Lipoprotein Size, Concentration, and Cholesterol Content in Genome-Wide Analysis	2009	13490
Adam C. Naj	Dementia Revealed: Novel Chromosome 6 Locus for Late-Onset Alzheimer Disease Provides Genetic Evidence for Folate-Pathway Abnormalities	2010	11080
Sanna Neselius	Increased CSF Levels of Phosphorylated Neurofilament Heavy Protein following Bout in Amateur Boxers	2013	3836
Fang Lu	Genetic Variants in PVRL2-TOMM40-APOE Region Are Associated with Human Longevity in a Han Chinese Population	2014	2573
Simon P Mooijaart	ApoE Plasma Levels and Risk of Cardiovascular Mortality in Old Age	2006	9992
Tina Ristau	Impact of the Common Genetic Associations of Age-Related Macular Degeneration upon Systemic Complement Component C3d Levels	2014	2407
Serena Sanna	Fine Mapping of Five Loci Associated with Low-Density Lipoprotein Cholesterol Detects Variants That Double the Explained Heritability	2011	11249
Gary W. Beecham	Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias	2014	14816
Cynthia Cooper Worobey	Genetic Polymorphisms and the Risk of Accelerated Renal Function Decline in Women	2009	3100
Otto M. Henriksen	Resting Brain Perfusion and Selected Vascular Risk Factors in Healthy Elderly Subjects	2014	1841
Annie M. Bérard	Novel Risk Factors for Premature Peripheral Arterial Occlusive Disease in Non-Diabetic Patients: A Case-Control Study	2013	4279
Olga Calero	Genetic Cross-Interaction between APOE and PRNP in Sporadic Alzheimer's and Creutzfeldt-Jakob Diseases	2011	4316
Xiaoyan Liu	Association Study of Candidate Gene Polymorphisms with Amnestic Mild Cognitive Impairment in a Chinese Population	2012	2464
Laurence O'Dwyer	Reduced Hippocampal Volume in Healthy Young ApoE4 Carriers: An MRI Study	2012	5605
Ying Wu	Trans-Ethnic Fine-Mapping of Lipid Loci Identifies Population-Specific Signals and Allelic Heterogeneity That Increases the Trait Variance Explained	2013	9854
Janina Petkeviciene	Associations between Apolipoprotein E Genotype, Diet, Body Mass Index, and Serum Lipids in Lithuanian Adult Population	2012	4958
Zaheda H. Radwan	Comprehensive Evaluation of the Association of APOE Genetic Variation with Plasma Lipoprotein Traits in U.S. Whites and African Blacks	2014	1412
Christine Herold	A One-Degree-of-Freedom Test for Supra-Multiplicativity of SNP Effects	2013	1487
Ellen M. Wijsman	Genome-Wide Association of Familial Late-Onset Alzheimer's Disease Replicates BIN1 and CLU and Nominates CUGBP2 in Interaction with APOE	2011	13243
David Serre	Correction of Population Stratification in Large Multi-Ethnic Association Studies	2008	7378
Walter Maetzler	Comparable Autoantibody Serum Levels against Amyloid- and Inflammation-Associated Proteins in Parkinson’s Disease Patients and Controls	2014	3585
Fumihiko Takeuchi	Association of Genetic Variants Influencing Lipid Levels with Coronary Artery Disease in Japanese Individuals	2012	4866
Qi Zhou	The Role of Apolipoprotein E as a Risk Factor for an Earlier Age at Onset for Machado-Joseph Disease Is Doubtful	2014	1452
Gerbrand J. Izaks	The Association of APOE Genotype with Cognitive Function in Persons Aged 35 Years or Older	2011	5878
Steven John Kiddle	Plasma Based Markers of [¹¹C] PiB-PET Brain Amyloid Burden	2012	5268
Kaisa Silander	Gender Differences in Genetic Risk Profiles for Cardiovascular Disease	2008	11428
Sungeun Kim	Influence of Genetic Variation on Plasma Protein Levels in Older Adults Using a Multi-Analyte Panel	2013	3797
Alberto M. Borobia	An Acenocoumarol Dosing Algorithm Using Clinical and Pharmacogenetic Data in Spanish Patients with Thromboembolic Disease	2012	10767
Christiane Reitz	Impact of Genetic Variation in SORCS1 on Memory Retention	2011	3907
Hogne Soennesyn	Relationship between Orthostatic Hypotension and White Matter Hyperintensity Load in Older Patients with Mild Dementia	2012	2812
Karen A. Mather	Investigating the Genetics of Hippocampal Volume in Older Adults without Dementia	2015	2113
Wenjing Ou	Association of CVD Candidate Gene Polymorphisms with Ischemic Stroke and Cerebral Hemorrhage in Chinese Individuals	2014	2033
Fanggeng Zou	Linking Protective GAB2 Variants, Increased Cortical GAB2 Expression and Decreased Alzheimer’s Disease Pathology	2013	2170
Marlise E. A. van Eersel	The Interaction of Age and Type 2 Diabetes on Executive Function and Memory in Persons Aged 35 Years or Older	2013	2752
Steven G. Potkin	Hippocampal Atrophy as a Quantitative Trait in a Genome-Wide Association Study Identifying Novel Susceptibility Genes for Alzheimer's Disease	2009	14737
Rebecca A. Lundwall	Exogenous Visual Orienting Is Associated with Specific Neurotransmitter Genetic Markers: A Population-Based Genetic Association Study	2012	2451
Caíque Silveira Martins da Fonseca	Human Plasma Lipid Modulation in Schistosomiasis Mansoni Depends on Apolipoprotein E Polymorphism	2014	1958
Felix Grassmann	Modelling the Genetic Risk in Age-Related Macular Degeneration	2012	6029
Zhiyuan Xu	Longitudinal Analysis Is More Powerful than Cross-Sectional Analysis in Detecting Genetic Association with Neuroimaging Phenotypes	2014	3343
Marthe T. Maehlen	Associations between APOE Genotypes and Disease Susceptibility, Joint Damage and Lipid Levels in Patients with Rheumatoid Arthritis	2013	2436
Julien Couthouis	Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis	2014	7154
Fei Song	Plasma Apolipoprotein Levels Are Associated with Cognitive Status and Decline in a Community Cohort of Older Individuals	2012	8143
Justine A. Ellis	APOE Genotype and Cardio-Respiratory Fitness Interact to Determine Adiposity in 8-Year-Old Children from the Tasmanian Infant Health Survey	2011	2697
Per Johansson	Cerebrospinal Fluid (CSF) 25-Hydroxyvitamin D Concentration and CSF Acetylcholinesterase Activity Are Reduced in Patients with Alzheimer's Disease	2013	4051
Shanker Swaminathan	Analysis of Copy Number Variation in Alzheimer’s Disease in a Cohort of Clinically Characterized and Neuropathologically Verified Individuals	2012	5635
Laurence O'Dwyer	White Matter Differences between Healthy Young ApoE4 Carriers and Non-Carriers Identified with Tractography and Support Vector Machines	2012	3063
Colton Linnertz	Characterization of the Poly-T Variant in the TOMM40 Gene in Diverse Populations	2012	3850
Jennifer S. Yokoyama	Apolipoprotein ε4 Is Associated with Lower Brain Volume in Cognitively Normal Chinese but Not White Older Adults	2015	1692
Qingqin S. Li	Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ_1-42 Level	2015	1585
Katherine E. Beaney	Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population	2015	2273
Erika J. Laukka	Microstructural White Matter Properties Mediate the Association between APOE and Perceptual Speed in Very Old Persons without Dementia	2015	1373
Yoko Mori	TREM2 mRNA Expression in Leukocytes Is Increased in Alzheimer’s Disease and Schizophrenia	2015	4266
Lin Li	Association between the Lipid Levels and Single Nucleotide Polymorphisms of ABCA1, APOE and HMGCR Genes in Subjects with Spontaneous Preterm Delivery	2015	1721
Felix Grassmann	Clinical and Genetic Factors Associated with Progression of Geographic Atrophy Lesions in Age-Related Macular Degeneration	2015	3253
Jung-Lung Hsu	Posterior Atrophy and Medial Temporal Atrophy Scores Are Associated with Different Symptoms in Patients with Alzheimer’s Disease and Mild Cognitive Impairment	2015	2714
Xiao-Fen Chen	Demographic and Lifestyle Characteristics, but Not Apolipoprotein E Genotype, Are Associated with Intelligence among Young Chinese College Students	2015	1582
Rachel E. D. Climie	Abdominal Obesity and Brain Atrophy in Type 2 Diabetes Mellitus	2015	2728
Heejung Shim	A Multivariate Genome-Wide Association Analysis of 10 LDL Subfractions, and Their Response to Statin Treatment, in 1868 Caucasians	2015	3434
Bin Jiao	Polygenic Analysis of Late-Onset Alzheimer’s Disease from Mainland China	2015	2882
Kristen Fortney	Genome-Wide Scan Informed by Age-Related Disease Identifies Loci for Exceptional Human Longevity	2015	24433
Nobuyuki Kobayashi	Development of Biomarkers Based on DNA Methylation in the NCAPH2/LMF2 Promoter Region for Diagnosis of Alzheimer’s Disease and Amnesic Mild Cognitive Impairment	2016	2747
You Yin	Interleukin-1β Promoter Polymorphism Enhances the Risk of Sleep Disturbance in Alzheimer’s Disease	2016	1981
Mark Ide	Periodontitis and Cognitive Decline in Alzheimer’s Disease	2016	22375
Sherine M. Rizk	Association between SIRT1 Gene Polymorphisms and Breast Cancer in Egyptians	2016	3071
Chia-Hsiang Chen	Development of a Melting Curve-Based Allele-Specific PCR of Apolipoprotein E (APOE) Genotyping Method for Genomic DNA, Guthrie Blood Spot, and Whole Blood	2016	2615
Pietari Ripatti	The Contribution of GWAS Loci in Familial Dyslipidemias	2016	3541
Kaoru Midorikawa	APOE Genotype in the Ethnic Majority and Minority Groups of Laos and the Implications for Non-Communicable Diseases	2016	1397

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
R Ramirez-Lorca	GAB2 gene does not modify the risk of Alzheimer's disease in Spanish APOE 4 carriers.	2009	4	10.1007/s12603-009-0061-6
Amy E Taylor	IQ, educational attainment, memory and plasma lipids: associations with apolipoprotein E genotype in 5995 children.	2011	8	10.1016/j.biopsych.2010.10.033
V K Ramanan	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	2013	4	10.1038/mp.2013.19
Pawel Gaj	Identification of a late onset Alzheimer's disease candidate risk variant at 9q21.33 in Polish patients.	2012	3	10.3233/JAD-2012-120520
Gerbrand J Izaks	The association of APOE genotype with cognitive function in persons aged 35 years or older.	2011	6	10.1371/journal.pone.0027415
Rudi G. J. Westendorp	Evidence from case–control and longitudinal studies supports associations of genetic variation in APOE, CETP, and IL6 with human longevity	2012	9	10.1007/s11357-011-9373-7
Mary F. Feitosa	Association of gene variants with lipid levels in response to fenofibrate is influenced by metabolic syndrome status	2011	5	10.1016/j.atherosclerosis.2011.01.011
G Reales	New insights into the distribution of APOE polymorphism in the Iberian Peninsula. The case of Andalusia (Spain)	2014	2	10.3109/03014460.2013.877966
D R S Souza	Association between apolipoprotein E genotype, serum lipids, and colorectal cancer in Brazilian individuals	2009	1
D R S Souza	Association between apolipoprotein E genotype, serum lipids, and colorectal cancer in Brazilian individuals.	2009	6	-
D Clark	Apolipoprotein-E gene variants associated with cardiovascular risk factors in antipsychotic recipients	2009	2	10.1016/j.eurpsy.2009.03.003
G Davies	A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.	2012	8	10.1038/mp.2012.159
P. Blaschke	Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects	2012	5	10.1136/jmedgenet-2012-101175
Tauseef Ahmad Khan	Uses of Gene variants in Lipid Pathway as Instruments to dissect CVD risk pathways and for drug-target discovery	2012	1
G J Izaks	The association of APOE genotype with cognitive function in persons aged 35 years or older	2011	1	10.1371/journal.pone.0027415; 10.1371/journal.pone.0027415
Lingjun Zuo	Variation at APOE and STH loci and Alzheimer's disease	2006	9	10.1186/1744-9081-2-13
J Petkeviciene	Associations between apolipoprotein E genotype, diet, body mass index, and serum lipids in Lithuanian adult population	2012	2	10.1371/journal.pone.0041525\rPONE-D-12-05821 [pii]
Michael C Costanza	Consistency between cross-sectional and longitudinal SNP: blood lipid associations.	2012	4	10.1007/s10654-012-9670-1
Francesco Lescai	An APOE Haplotype Associated with Decreased epsilon 4 Expression Increases the Risk of Late Onset Alzheimer's Disease	2011	1	10.3233/JAD-2010-101764
Laura S Dieter	Isoform of APOE with retained intron 3; quantitation and identification of an associated single nucleotide polymorphism.	2010	10	10.1186/1750-1326-5-34
D Seripa	The APOE gene locus in frontotemporal dementia and primary progressive aphasia	2011	1	68/5/622 [pii]\r10.1001/archneurol.2011.90
V K Ramanan	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	2013	19	10.1038/mp.2013.19
Gerbrand J Izaks	The association of APOE genotype with cognitive function in persons aged 35 years or older.	2011	6	10.1371/journal.pone.0027415
Jonathan Golledge	Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm	2010	6	10.1016/j.atherosclerosis.2009.09.027
G Davies	A genome-wide association study implicates the APOE locus in nonpathological cognitive ageing.	2012	10	10.1038/mp.2012.159
Valerio Napolioni	APOE haplotypes are associated with human longevity in a Central Italy population: evidence for epistasis with HP 1/2 polymorphism.	2011	2	10.1016/j.cca.2011.06.012
Diego Robles Mazzotti	Association of APOE, GCPII and MMP9 polymorphisms with common diseases and lipid levels in an older adult/elderly cohort	2014	1	10.1016/j.gene.2013.11.040
D R S Souza	Association between apolipoprotein E genotype, serum lipids, and colorectal cancer in Brazilian individuals.	2009	0
Rosmeri K. Lazzaretti	Genetic markers associated to dyslipidemia in HIV-infected individuals on HAART	2013	3	10.1155/2013/608415
S Padmanabhan	Apolipoprotein E genotypes are associated with lipid levels and CRP but not outcomes in heart failure	2009	1
Davide Seripa	The Genetics of the Human APOE Polymorphism.	2011	11	10.1089/rej.2011.1169
Y Lu	Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study	2010	3	10.1016/j.atherosclerosis.2010.08.053
J Petkeviciene	Associations between apolipoprotein E genotype, diet, body mass index, and serum lipids in Lithuanian adult population	2012	1	-
J Lagos	Genetic biomarkers of atorvastatin efficacy in Chilean subjects with Amerindian background	2012	1
Gerbrand J. Izaks	The association of APOE genotype with cognitive function in persons aged 35 years or older	2011	7	10.1371/journal.pone.0027415
Amy E. Taylor	IQ, educational attainment, memory and plasma lipids: Associations with apolipoprotein e genotype in 5995 children	2011	9	10.1016/j.biopsych.2010.10.033
D Clark	Apolipoprotein-E gene variants associated with cardiovascular risk factors in antipsychotic recipients.	2009	10	10.1016/j.eurpsy.2009.03.003
Jun G Reitz C	VAriants in the atp-binding cassette transporter (abca7), apolipoprotein e ϵ4,and the risk of late-onset alzheimer disease in african americans	2013	20	10.1001/jama.2013.2973
Joris Deelen	Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited.	2011	38	10.1111/j.1474-9726.2011.00705.x
D R S Souza	Association between apolipoprotein E genotype, serum lipids, and colorectal cancer in Brazilian individuals.	2009	5
Deanna S. Cross	GENETIC FACTORS ASSOCIATED WITH NON-FATAL MYOCARDIAL INFARCTION AND HOSPITALIZED UNSTABLE ANGINA - A MARSHFIELD CLINIC CASE-COHORT STUDY	2010	1	10.1016/S0735-1097(10)61217-X
Joo-Yong Lee	Association of GWAS Top Hits With Late-onset Alzheimer Disease in Korean Population	2012	7	10.1097/WAD.0b013e31826d7281
Gianluigi Forloni	The SIRT2 polymorphism rs10410544 and risk of Alzheimer’s disease in two Caucasian case–control cohorts	2012	6	10.1016/j.jalz.2012.02.003
Lingjun Zuo	Variation at APOE and STH loci and Alzheimer's disease.	2006	10	10.1186/1744-9081-2-13
Patrick Kehoe	APOE is associated with Vascular Dementia - using alzgene-like approaches to investigate susceptibility genes for vascular cognitive impairment	2011	1	10.1016/j.jalz.2011.05.2171
Christiane Reitz	Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E 4, and the Risk of Late-Onset Alzheimer Disease in African Americans	2013	2	-
Francesco Lescai	An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease.	2011	4	10.3233/JAD-2011-101764
Sun Ju Chung	Association of GWAS Top Hits With Late-onset Alzheimer Disease in Korean Population.	2012	6	10.1097/WAD.0b013e31826d7281
V K Ramanan	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.	2013	24	10.1038/mp.2013.19
Anna M Bennet	Pleiotropy in the presence of allelic heterogeneity: alternative genetic models for the influence of APOE on serum LDL, CSF amyloid-β42, and dementia.	2010	5	10.3233/JAD-2010-100864
Alina Smalinskiene	Association between APOE, SCARB1, PPARα polymorphisms and serum lipids in a population of Lithuanian adults.	2013	1	10.1186/1476-511X-12-120
Man-huei Chang	Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey	2010	8	10.1186/1471-2350-11-62
Valerio Napolioni	APOE haplotypes are associated with human longevity in a Central Italy population: evidence for epistasis with HP 1/2 polymorphism.	2011	2	-
Leandro Cascavilla	The Genetics of the Human APOE Polymorphism	2011	12	10.1089/rej.2011.1169
Christiane Reitz	Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E 4, and the Risk of Late-Onset Alzheimer Disease in African Americans	2013	7	-
Stefan Stender	Low-density lipoprotein cholesterol and risk of gallstone disease: A Mendelian randomization study and meta-analyses	2013	5	10.1016/j.jhep.2012.08.013
Chandra A Reynolds	Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.	2010	23	10.1093/hmg/ddq079
J Golledge	Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm	2010	1	10.1016/j.atherosclerosis.2009.09.027
S Bhatia	Relationship of rs4420638 in the APOE/C1/C4/C2 locus to coronary artery disease.	2009	1
Tracey E Toms	Apolipoprotein E gene polymorphisms are strong predictors of inflammation and dyslipidemia in rheumatoid arthritis.	2012	7	10.3899/jrheum.110683
Christiane Reitz	Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.	2013	20	10.1001/jama.2013.2973
D. Clark	Apolipoprotein-E gene variants associated with cardiovascular risk factors in antipsychotic recipients	2009	2	10.1016/j.eurpsy.2009.03.003
Xiaoyan Liu	Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.	2012	2	10.1371/journal.pone.0041198
P Kehoe	APOE is associated with vascular dementia - Using alzgene-like approaches to investigate susceptibility genes for vascular cognitive impairment	2011	1	10.1016/j.jalz.2011.05.2171
Monica Singh	A susceptible haplotype within APOE gene influences BMD and intensifies the osteoporosis risk in postmenopausal women of Northwest India	2010	4	10.1016/j.maturitas.2010.06.017
Davide Seripa	TOMM40, APOE, and APOC1 in primary progressive aphasia and frontotemporal dementia.	2012	1	10.3233/JAD-2012-120403
F Lescai	An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease.	2011	2	-
Christiane Reitz	Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E e4,and the risk of late-onset Alzheimer disease in African Americans.	2013	37	10.1001/jama.2013.2973
Min-Jie Wen	Association Study Between Apolipoprotein E Gene Polymorphism and Diabetic Nephropathy in a Taiwanese Population	2011	2	10.1089/gtmb.2010.0201
Farid Radmanesh	Accuracy of imputation to infer unobserved APOE epsilon alleles in genome-wide genotyping data.	2014	4	10.1038/ejhg.2013.308
Ashok Patel	Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome	2011	12	10.1016/j.neulet.2010.10.010
Tauseef Ahmad Khan	Uses of Gene variants in Lipid Pathway as Instruments to dissect CVD risk pathways and for drug-target discovery	2012	1	-
Valerio Napolioni	APOE haplotypes are associated with human longevity in a Central Italy population: Evidence for epistasis with HP 1/2 polymorphism	2011	2	10.1016/j.cca.2011.06.012
V K Ramanan	APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study	2013	4	-
D R Souza	Association between apolipoprotein E genotype, serum lipids, and colorectal cancer in Brazilian individuals	2009	1	S0100-879X2009000500001 [pii]
Xiaoyan Liu	Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.	2012	3	10.1371/journal.pone.0041198
Valeria Novelli	Lack of replication of genetic associations with human longevity.	2008	12	10.1007/s10522-007-9116-4
P Huebbe	APOE (epsilon)4 is associated with higher vitamin D levels in targeted replacement mice and humans	2011	2	-

Evidence compiled by the Personal Genome Project

Gene	Impact	Trait	Summary	Inheritance
APOE	High clinical importance, pathogenic		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).	other

Publications listed by Genome.gov

First Author	Title	Journal	Publication Date	Trait	p-value	Confidence Interval
Shen L	Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.	Neuroimage	01/22/2010	Brain imaging	1.0e-100 NS	NR

Name	rs429358
Chromosome	19
Position	44908684
Weight of evidence	259

SNP rs429358

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

Contacts