rs429358

Chromosome : 19 , Position: 44908684
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleT
Alternative Alleles:  C

Traits

Trait Variant Impact PMID Author (year)
Alanine aminotransferase levels C
Nat Commun Chen VL (2021)
White matter hyperintensities C
Nat Commun Persyn E (2020)
Time to complete round C
Unknown journal UKB Neale v2 (2018)
Platelet count C
Unknown journal UKB Neale v2 (2018)
Neurofibrillary tangles C
Brain Dumitrescu L (2019)
Alzheimer's disease or family history of Alzheimer's disease C
Nat Genet Schwartzentruber J (2021)
Neuritic plaque C
Brain Dumitrescu L (2019)
Parental lifespan C
Elife Timmers PR (2019)
Parental lifespan [EA] C
Nat Commun Joshi PK (2017)
Cerebrospinal AB1-42 levels in normal cognition C
Alzheimers Dement Chung J (2017)
Cerebrospinal fluid AB1-42 levels C
Alzheimers Dement Chung J (2017)
Cerebrospinal AB1-42 levels in mild cognitive impairment C
Alzheimers Dement Chung J (2017)
Amyloid pathology C
Transl Psychiatry Hong S (2020)
Cerebrospinal fluid t-tau levels in mild cognitive impairment C
Alzheimers Dement Chung J (2017)
Cerebrospinal fluid t-tau levels C
Alzheimers Dement Chung J (2017)
Cerebrospinal fluid p-tau levels in mild cognitive impairment C
Alzheimers Dement Chung J (2017)
Cerebrospinal fluid p-tau levels C
Alzheimers Dement Chung J (2017)
Lewy body disease [Ordinal II] C
PLoS Genet Beecham GW (2014)
Lewy body disease [Ordinal I] C
PLoS Genet Beecham GW (2014)
Lewy body disease [Case/control] C
PLoS Genet Beecham GW (2014)
Hippocampal volume C
Alzheimers Dement Chung J (2017)
Logical memory (delayed recall) C
Alzheimers Dement Chung J (2017)
Parkinson's disease progression (cognitive) C
Mov Disord Tan MMX (2020)
Logical memory (immediate recall) C
Alzheimers Dement Chung J (2017)
Parkinson's disease progression (composite) C
Mov Disord Tan MMX (2020)
High-sensitivity C-reactive protein levels in HIV infection C
AIDS Sherman BT (2020)
Neurofibrillary tangles [EA] C
Mol Psychiatry Chibnik LB (2017)
C-reactive protein levels C
Eur J Epidemiol Han X (2020)
Mean reticulocyte volume C
Unknown journal UKB Neale v2 (2018)
C-reactive protein levels [BMI-adjusted] C
Am J Hum Genet Ligthart S (2018)
Plasma amyloid beta peptide concentration (ABx-40/ABx-42 ratio) C
Alzheimers Dement Damotte V (2021)
Mean sphered cell volume C
Unknown journal UKB Neale v2 (2018)
LDL cholesterol C
Sci Rep Prins BP (2017)
Cerebral amyloid deposition (PET imaging) C
Mol Psychiatry Yan Q (2018)
Plasma amyloid beta peptide concentrations (ABx-42) C
Alzheimers Dement Damotte V (2021)
Total cholesterol levels [East Asian] C
Nat Genet Hoffmann TJ (2018)
Serum type 1 collagen metabolite levels C
Neurol Genet Tang ME (2020)
Leg fat percentage (right) C
Unknown journal UKB Neale v2 (2018)
Leg fat percentage (left) C
Unknown journal UKB Neale v2 (2018)
Central cerebrospinal fluid amyloid beta 42 levels C
Transl Psychiatry Hong S (2020)
Central cerebrospinal fluid amyloid beta 42 to 40 ratio C
Transl Psychiatry Hong S (2020)
Apolipoprotein A1 levels C
PLoS Med Richardson TG (2020)
Spherical equivalent C
JAMA Ophthalmol Han X (2020)
HDL cholesterol levels C
PLoS Med Richardson TG (2020)
Liver fat content (MRI proton density fat fraction measure) C
J Hepatol Parisinos CA (2020)
Type 2 diabetes C
Nat Genet Vujkovic M (2020)
Family history of Alzheimer's disease C
Nat Genet Schwartzentruber J (2021)
HDL cholesterol C
Nat Genet Surakka I (2015)
Red cell distribution width C
Cell Vuckovic D (2020)
Parental longevity (combined parental attained age, Martingale residuals) C
Aging (Albany NY) Pilling LC (2017)
Parental longevity (mother's attained age) C
Aging (Albany NY) Pilling LC (2017)
Mean spheric corpuscular volume C
Cell Vuckovic D (2020)
Number of days/week of moderate physical activity 10+ minutes C
Unknown journal UKB Neale v2 (2018)
Parental longevity (combined parental age at death) C
Aging (Albany NY) Pilling LC (2017)
Leg fat mass (left) C
Unknown journal UKB Neale v2 (2018)
Red blood cell (erythrocyte) distribution width C
Unknown journal UKB Neale v2 (2018)
Plateletcrit C
Cell Vuckovic D (2020)
Number of days/week of vigorous physical activity 10+ minutes C
Unknown journal UKB Neale v2 (2018)
Parental longevity (mother's age at death) C
Aging (Albany NY) Pilling LC (2017)
Parental longevity (father's attained age) C
Aging (Albany NY) Pilling LC (2017)
Parental longevity (father's age at death) C
Aging (Albany NY) Pilling LC (2017)
Serum 25-Hydroxyvitamin D levels C
Nat Commun Revez JA (2020)
Dried fruit intake C
Unknown journal UKB Neale v2 (2018)
Cereal intake C
Unknown journal UKB Neale v2 (2018)
Moderate to vigorous physical activity levels C
Int J Obes (Lond) Klimentidis YC (2018)
Weight change compared with 1 year ago C
Unknown journal UKB Neale v2 (2018)
Water intake C
Unknown journal UKB Neale v2 (2018)
Salt added to food C
Unknown journal UKB Neale v2 (2018)
Adult body size C
BMJ Richardson TG (2020)
Lamb/mutton intake C
Unknown journal UKB Neale v2 (2018)
Pork intake C
Unknown journal UKB Neale v2 (2018)
Mental health study participation (completed survey) C
Int J Epidemiol Adams MJ (2019)
Fresh fruit intake C
Unknown journal UKB Neale v2 (2018)
Liver enzyme levels (alanine transaminase) C
Nat Commun Pazoki R (2021)
Insulin-like growth factor 1 levels C
Elife Sinnott-Armstrong N (2021)
Liver enzyme levels (alkaline phosphatase) C
Nat Commun Pazoki R (2021)
Platelet crit C
Unknown journal UKB Neale v2 (2018)
"Alzheimer disease, including avohilmo" C
Unknown journal FINNGEN_R5 (2021)
"Any mental disorder, or suicide (or attempt), or psychic disorders complicating pregnancy, partum or puerperum or nerve system disorders" C
Unknown journal FINNGEN_R5 (2021)
"Delirium, not induced by alcohol and other psychoactive substances" C
Unknown journal FINNGEN_R5 (2021)
"Diabetes, insuline treatment (Kela reimbursement)" C
Unknown journal FINNGEN_R5 (2021)
"Diabetes, insuline treatment (Kela reimbursement)" (more controls excluded) C
Unknown journal FINNGEN_R5 (2021)
"Diabetes, varying definitions" C
Unknown journal FINNGEN_R5 (2021)
"Organic, including symptomatic, mental disorders" C
Unknown journal FINNGEN_R5 (2021)
"Other diabetes, wide definition" C
Unknown journal FINNGEN_R5 (2021)
"Symptoms and signs involving cognition, perception, emotional state and behaviour" C
Unknown journal FINNGEN_R5 (2021)
"Type 2 diabetes, definitions combined" C
Unknown journal FINNGEN_R5 (2021)
"Type 2 diabetes, strict (exclude DM1)" C
Unknown journal FINNGEN_R5 (2021)
Abdominal aortic aneurysm C
Circulation Klarin D (2020)
Acceptance of an invitation to participate in a mental health questionnaire C
Nat Commun Tyrrell J (2021)
Adult onset asthma or type 2 diabetes C
J Allergy Clin Immunol Zhu Z (2019)
Advanced age-related macular degeneration [EA] C
Nat Genet Fritsche LG (2015)
Aging traits (healthspan, parental lifespan or longevity) (multivariate analysis) C
Nat Commun Timmers PRHJ (2020)
Altered mental status C
Unknown journal UKB SAIGE (2018)
Alzheimer disease C
Unknown journal FINNGEN_R5 (2021)
Alzheimer disease (more controls excluded) C
Unknown journal FINNGEN_R5 (2021)
Alzheimer's disease C
Alzheimers Dement Moreno-Grau S (2019)
Alzheimer's disease (onset at age over 80) C
Neurobiol Aging Lo MT (2019)
Alzheimer's disease (onset between ages 58 and 79) C
Neurobiol Aging Lo MT (2019)
Alzheimer's disease [females] C
Alzheimers Res Ther Nazarian A (2019)
Alzheimer's disease [males] C
Alzheimers Res Ther Nazarian A (2019)
Alzheimer's disease biomarkers [Cortical Ab] C
Mol Psychiatry Ramanan VK (2013)
Alzheimer's disease in hypertension C
Geroscience Nazarian A (2019)
Alzheimer's disease in hypertension-negative individuals C
Geroscience Nazarian A (2019)
Alzheimer's disease progression score [uncorrected for APOE4 status and baseline cortical amyloid] C
Brain Scelsi MA (2018)
Alzheimer's disease/dementia | illnesses of father C
Unknown journal UKB Neale v2 (2018)
Alzheimer's disease/dementia | illnesses of mother C
Unknown journal UKB Neale v2 (2018)
Alzheimer's disease/dementia | illnesses of siblings C
Unknown journal UKB Neale v2 (2018)
AlzheimerÕs disease (Atypical or mixed) C
Unknown journal FINNGEN_R5 (2021)
AlzheimerÕs disease (Atypical or mixed) (more controls excluded) C
Unknown journal FINNGEN_R5 (2021)
AlzheimerÕs disease (Early onset) C
Unknown journal FINNGEN_R5 (2021)
AlzheimerÕs disease (Early onset) (more controls excluded) C
Unknown journal FINNGEN_R5 (2021)
AlzheimerÕs disease (Late onset) C
Unknown journal FINNGEN_R5 (2021)
AlzheimerÕs disease (Late onset) (more controls excluded) C
Unknown journal FINNGEN_R5 (2021)
AlzheimerÕs disease (undefined) C
Unknown journal FINNGEN_R5 (2021)
AlzheimerÕs disease (undefined) (more controls excluded) C
Unknown journal FINNGEN_R5 (2021)
Alzheimer’s disease (clinical subgroup AD+) C
Alzheimers Dement Moreno-Grau S (2019)
Alzheimer’s disease (clinical subgroup AD++) C
Alzheimers Dement Moreno-Grau S (2019)
Alzheimer’s disease (clinical subgroup AD+++) C
Alzheimers Dement Moreno-Grau S (2019)
Alzheimer’s disease and/or vascular dementia (clinical subgroup VaD+) C
Alzheimers Dement Moreno-Grau S (2019)
Amyloid status (abnormal vs normal) C
Transl Psychiatry Hong S (2020)
Angina pectoris C
Unknown journal UKB SAIGE (2018)
Any dementia C
Unknown journal FINNGEN_R5 (2021)
Any dementia (more controls excluded) C
Unknown journal FINNGEN_R5 (2021)
Any mental disorder C
Unknown journal FINNGEN_R5 (2021)
Atorvastatin | treatment/medication code C
Unknown journal UKB Neale v2 (2018)
Blood protein levels [EA, Apolipoprotein E] C
Nat Commun Suhre K (2017)
Brain imaging [grey matter density of the right hippocampus] C
Neuroimage Shen L (2010)
Butter/spreadable butter | spread type C
Unknown journal UKB Neale v2 (2018)
Central cerebrospinal fluid amyloid beta 42 to 40 ratio (abnormal vs normal) C
Transl Psychiatry Hong S (2020)
Cerebral amyloid angiopathy [EA] C
Mol Psychiatry Chibnik LB (2017)
Cerebral amyloid deposition positivity (PET imaging) C
PLoS One Li QS (2015)
Cerebrospinal AB1-42 levels in Alzheimer's disease dementia C
Hum Mol Genet Ramirez A (2014)
Cholesterol lowering medication | medication for cholesterol, blood pressure or diabetes C
Unknown journal UKB Neale v2 (2018)
Cholesterol lowering medication | medication for cholesterol, blood pressure, diabetes, or take exogenous hormones C
Unknown journal UKB Neale v2 (2018)
Codeine or tramadol medication C
Unknown journal FINNGEN_R5 (2021)
Cognitive decline (age-related) C
Neurol Genet Raj T (2016)
Coronary artery disease C
Circ Res van der Harst P (2017)
Coronary atherosclerosis C
Unknown journal UKB SAIGE (2018)
Cortical amyloid beta load [uncorrected for APOE4 status] C
Brain Scelsi MA (2018)
Delirium dementia and amnestic and other cognitive disorders C
Unknown journal UKB SAIGE (2018)
Delirium due to conditions classified elsewhere C
Unknown journal UKB SAIGE (2018)
Dementia in Alzheimer disease C
Unknown journal FINNGEN_R5 (2021)
Dementia with Lewy bodies C
Sci Rep Rongve A (2019)
Dementias C
Unknown journal UKB SAIGE (2018)
Diabetes mellitus C
Unknown journal FINNGEN_R5 (2021)
Diabetes | illnesses of father C
Unknown journal UKB Neale v2 (2018)
Diabetes | illnesses of mother C
Unknown journal UKB Neale v2 (2018)
Diffuse plaques [EA] C
Mol Psychiatry Chibnik LB (2017)
Disorders of lipoid metabolism C
Unknown journal UKB SAIGE (2018)
Executive function (trail making test B) C
Nat Hum Behav de la Fuente J (2020)
Ezetrol 10mg tablet | treatment/medication code C
Unknown journal UKB Neale v2 (2018)
Father still alive C
Unknown journal UKB Neale v2 (2018)
HDL cholesterol levels x short total sleep time interaction (2df test) C
Nat Commun Noordam R (2019)
High blood pressure | illnesses of mother C
Unknown journal UKB Neale v2 (2018)
High cholesterol | non-cancer illness code, self-reported C
Unknown journal UKB Neale v2 (2018)
High density lipoprotein cholesterol levels C
Nat Genet Kanai M (2018)
Hippocampal volume [uncorrected for APOE4 status] C
Brain Scelsi MA (2018)
Hypercholesterolemia C
Unknown journal UKB SAIGE (2018)
Hyperlipidemia C
Unknown journal UKB SAIGE (2018)
Information processing speed (symbol digit substitution) C
Nat Hum Behav de la Fuente J (2020)
Insomnia C
Nat Genet Jansen PR (2019)
Lamb consumption C
Transl Psychiatry Niarchou M (2020)
Lipitor 10mg tablet | treatment/medication code C
Unknown journal UKB Neale v2 (2018)
Longevity (age >90th survival percentile) C
Nat Commun Deelen J (2019)
Longevity (age >99th survival percentile) C
Nat Commun Deelen J (2019)
Low density lipoprotein cholesterol levels C
Nat Genet Kanai M (2018)
Maternal history of Alzheimer's disease C
Transl Psychiatry Marioni RE (2018)
Meat-related diet C
Transl Psychiatry Niarchou M (2020)
Meat-related diet [female] C
Transl Psychiatry Niarchou M (2020)
Memory loss C
Unknown journal FINNGEN_R5 (2021)
Mortality C
Nat Commun Joshi PK (2016)
Mother still alive C
Unknown journal UKB Neale v2 (2018)
Myocardial infarction C
Eur Heart J Hartiala JA (2021)
Neuritic plaque [EA] C
Mol Psychiatry Chibnik LB (2017)
Neuritic plaques or cerebral amyloid angiopathy (pleiotropy) C
Alzheimers Res Ther Chung J (2018)
Neuritic plaques or neurofibrillary tangles (pleiotropy) C
Alzheimers Res Ther Chung J (2018)
Neurofibrillary tangles or cerebral amyloid angiopathy (pleiotropy) C
Alzheimers Res Ther Chung J (2018)
Neurological diseases C
Unknown journal FINNGEN_R5 (2021)
Neurological disorders C
Unknown journal UKB SAIGE (2018)
Neuropathologic traits (pleiotropy) [EA] C
Mol Psychiatry Chibnik LB (2017)
No | major dietary changes in the last 5 years C
Unknown journal UKB Neale v2 (2018)
None of the above | medication for cholesterol, blood pressure or diabetes C
Unknown journal UKB Neale v2 (2018)
None of the above | medication for cholesterol, blood pressure, diabetes, or take exogenous hormones C
Unknown journal UKB Neale v2 (2018)
Other (e.g. cornflakes, frosties) | cereal type C
Unknown journal UKB Neale v2 (2018)
Other degenerative diseases of the nervous system C
Unknown journal FINNGEN_R5 (2021)
Other mental disorders due to brain damage and dysfunction and to physical disease C
Unknown journal FINNGEN_R5 (2021)
Other symptoms and signs involving cognitive functions and awareness C
Unknown journal FINNGEN_R5 (2021)
Other type of spread/margarine | spread type C
Unknown journal UKB Neale v2 (2018)
Parental longevity (both parents in top 10%) C
Aging (Albany NY) Pilling LC (2017)
Parental longevity (mother's age at death or mother's attained age) C
G3 (Bethesda) Wright KM (2019)
Paternal history of Alzheimer's disease C
Transl Psychiatry Marioni RE (2018)
Percent liver fat C
Elife Liu Y (2021)
Psychiatric diseases C
Unknown journal FINNGEN_R5 (2021)
Ratio of apolipoprotein A1 to apolipoprotein B C
PLoS Genet Davis JP (2017)
Refractive error C
Nat Genet Hysi PG (2020)
Relative sugar intake C
Mol Psychiatry Meddens SFW (2020)
Serum C-reactive protein concentration C
Cancer Prev Res (Phila) Jung SY (2020)
Simvastatin | treatment/medication code C
Unknown journal UKB Neale v2 (2018)
Suicide or other Intentional self-harm C
Unknown journal FINNGEN_R5 (2021)
Total cholesterol levels C
Nat Genet Kanai M (2018)
Type 2 diabetes with other specified/multiple/unspecified complications C
Unknown journal FINNGEN_R5 (2021)
Type 2 diabetes without complications C
Unknown journal FINNGEN_R5 (2021)
Undefined dementia C
Unknown journal FINNGEN_R5 (2021)
Undefined dementia (more controls excluded) C
Unknown journal FINNGEN_R5 (2021)
Unspecified dementia C
Unknown journal FINNGEN_R5 (2021)
Vascular dementia C
Unknown journal FINNGEN_R5 (2021)
Vascular dementia (subcortical) C
Unknown journal FINNGEN_R5 (2021)
Vascular dementia (undefined) C
Unknown journal FINNGEN_R5 (2021)
Waist-hip ratio C
Am J Hum Genet Kichaev G (2018)
Waist-to-hip ratio adjusted for BMI C
J Allergy Clin Immunol Zhu Z (2019)
Wet age-related macular degeneration C
Unknown journal FINNGEN_R5 (2021)
Yes, because of other reasons | major dietary changes in the last 5 years C
Unknown journal UKB Neale v2 (2018)

Summary

The C (minor) allele is associated with:

  • One C = Bad version = Less APOE4.
  • CT: >3x increased risk for Alzheimer's; 1.4x increased risk for heart disease  

More Information

The C (minor) allele is associated with:

C = Bad version = predictive of APOE4

  • rs429358(C;C) + rs7412 (C;C) = APOE4/APOE4 (Bad) = 12x for late-onset Alzheimer's and 61x for early-onset disease [R].
  • rs429358(C;T) + rs7412 (C;C) = APOE4/APOE3 (Bad) = >3x increased risk for Alzheimer's; 1.4x increased risk for heart disease  [R].
  • rs429358(T;T) + rs7412 (C;C) = APOE3/APOE3 (Good)

If the allele of this SNP is "C" and the same chromosome also harbors the rs7412 "C" allele, the combination is known as an APOE-ε4 allele. The APOE-ε4 allele has a strong influence on the risk of Alzheimer's disease.

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 [R].

Meta-analyses have also supported the association between the APOE-ε4 allele and somewhat increased risk for heart disease, with an odds ratio of 1.42 (CI: 1.26 – 1.61) [R].

The C allele is also reported to be associated with increased levels of physical activity [R

Population Alleles Frequency

ethhicity frequency
African/African-American 0.2122
Latino/Admixed American 0.1232
Ashkenazi Jewish 0.1042
East Asian 0.0969
European 0.1418
Other (population not assigned) 0.1596

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Health reports

High Blood Sugar
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Morningness
Time spent watching TV
Disliking cilantro
Alcohol Sensitivity
Response to Caffeine
Snacking
Weight Regain
Sleep movement
Wearing glasses or contacts
Educational Attainment
Bitter Taste Sensitivity
Agreeableness
Aggression
Conscientiousness
Openness to experience
Physical activity
Caffeine-Related Anxiety
Naps