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The Major "C" allele is associated with:

Alzheimer's Disease

CC = Bad version = contributes to APOE4 when combined with CC or CT genotype for rs429358.

  • 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 rs429358 "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 rs429358 (C;C) and rs7412 (C;C) individuals, compared to the more common rs429358 (T;T) and rs7412 (C;C) (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 Minor "T" allele is associated with:

Decreased Alzheimer's risk.

  • When rs7412 and rs429358 are both T (for the two SNPs located on the same chromosome) this is known as the APOE2 allele. APOE2 indicates a reduced risk of Alzheimer's disease.

rs7412

Parent Gene: APOE
Importance: 5
Minor Allele: T = 8%
Major Allele: C = 92%
My Genotype: Log In
Risk Allele: C, T, T, T, T, T, T, T, T, T

Disease/Trait: Lipid Measurement

rs7412 is associated with Lipid Measurement(R). It is reported to have a 0.75 unit decrease on Lipid metabolism phenotypes (L-LDL-FC). No specific risk allele was identified in the study.

Reported risk allele frequency: None
Reported genes: APOE
Beta coefficient: 0.75 unit decrease
Risk Allele: None (P=3.00*10-58)
Context: missense_variant
Study title: Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (R)
Initial sample size: 8,330 European ancestry individuals
Replication sample size:
Journal: Nat Genet (R)
Year published: Jan. 29, 2012
Strength of evidence: Strong

Disease/Trait: Ldl Cholesterol Change Measurement

rs7412 is associated with Ldl Cholesterol Change Measurement. It is reported to have a 6.2 mg/dL decrease on Response to statins (LDL cholesterol change) (baseline LDL-C). No specific risk allele was identified in the study.

Reported risk allele frequency: None
Reported genes: APOE
Beta coefficient: 6.2 mg/dL decrease
Risk Allele: None (P=2.00*10-47)
Context: missense_variant
Study title: Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. (R)
Initial sample size: 6,989 European ancestry individuals
Replication sample size:
Journal: Circ Cardiovasc Genet (R)
Year published: Feb. 13, 2012
Strength of evidence: Strong

Disease/Trait: Response To Statin

rs7412 is associated with Response To Statin(R). It is reported to have a 6.2 mg/dL decrease on Response to statins (LDL cholesterol change) (baseline LDL-C). No specific risk allele was identified in the study.

Reported risk allele frequency: None
Reported genes: APOE
Beta coefficient: 6.2 mg/dL decrease
Risk Allele: None (P=2.00*10-47)
Context: missense_variant
Study title: Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial. (R)
Initial sample size: 6,989 European ancestry individuals
Replication sample size:
Journal: Circ Cardiovasc Genet (R)
Year published: Feb. 13, 2012
Strength of evidence: Strong

Disease/Trait: Low Density Lipoprotein Cholesterol Measurement

rs7412 is associated with Low Density Lipoprotein Cholesterol Measurement(R). It is reported to have a 12.3 mg/dL decrease on LDL cholesterol. No specific risk allele was identified in the study.

Reported risk allele frequency: 10.00%
Reported genes: APOE
Beta coefficient: 12.3 mg/dL decrease
Risk Allele: None (P=2.00*10-9)
Context: missense_variant
Study title: High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. (R)
Initial sample size: 1,249 African American individuals
Replication sample size:
Journal: Clin Transl Sci (R)
Year published: Aug. 23, 2012
Strength of evidence: Strong

Disease/Trait: Total Cholesterol Measurement

The C allele of rs7412 is reported to be associated with Total Cholesterol Measurement(R). Your genotype was not identified for this SNP so we are unable to comment on your association with Cholesterol, total.

Reported risk allele frequency: 93.00%
Reported genes: APOE
Beta coefficient: 0.413 s.d. increase
Risk Allele: C (P=8.00*10-239)
Context: missense_variant
Study title: The impact of low-frequency and rare variants on lipid levels. (R)
Initial sample size: up to 62,166 European ancestry individuals
Replication sample size:
Journal: Nat Genet (R)
Year published: May 11, 2015
Strength of evidence: Strong

Disease/Trait: Low Density Lipoprotein Cholesterol Measurement

The T allele of rs7412 is reported to be associated with Low Density Lipoprotein Cholesterol Measurement(R). Your genotype was not identified for this SNP so we are unable to comment on your association with Lipid traits (LDL-C).

Reported risk allele frequency: 12.00%
Reported genes: APOE
Beta coefficient: 0.48 unit decrease
Risk Allele: T (P=3.00*10-53)
Context: missense_variant
Study title: Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. (R)
Initial sample size: 1,782 Filipino ancestry mothers
Replication sample size: 1,719 Filipino ancestry offsprings
Journal: J Lipid Res (R)
Year published: Sept. 10, 2013
Strength of evidence: Strong

Disease/Trait: Total Cholesterol Measurement

The T allele of rs7412 is reported to be associated with Total Cholesterol Measurement(R). Your genotype was not identified for this SNP so we are unable to comment on your association with Lipid traits (TC).

Reported risk allele frequency: 12.00%
Reported genes: APOE
Beta coefficient: 0.09 unit decrease
Risk Allele: T (P=2.00*10-30)
Context: missense_variant
Study title: Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. (R)
Initial sample size: 1,782 Filipino ancestry mothers
Replication sample size: 1,719 Filipino ancestry offsprings
Journal: J Lipid Res (R)
Year published: Sept. 10, 2013
Strength of evidence: Strong

Disease/Trait: Clinical And Behavioural Ideal Cardiovascular Health

rs7412 is associated with Clinical And Behavioural Ideal Cardiovascular Health. It is reported to association with Ideal cardiovascular health (clinical and behavioural). No specific risk allele was identified in the study.

Reported risk allele frequency: None
Reported genes: APOE
Risk Allele: None (P=9.00*10-16)
Context: missense_variant
Study title: Genetic loci associated with ideal cardiovascular health: A meta-analysis of genome-wide association studies. (R)
Initial sample size: 883 European ancestry individuals with clinical and behavioral ideal cardiovascular health, 10,825 European ancestry individuals without clinical and behavioral ideal cardiovascular health
Replication sample size: 522 European ancestry individuals
Journal: Am Heart J (R)
Year published: Jan. 23, 2016
Strength of evidence: Strong

Disease/Trait: High Density Lipoprotein Cholesterol Measurement

The T allele of rs7412 is reported to be associated with High Density Lipoprotein Cholesterol Measurement(R). Your genotype was not identified for this SNP so we are unable to comment on your association with HDL cholesterol.

Reported risk allele frequency: 7.79%
Reported genes: APOE
Beta coefficient: 0.1564597 mg/dl increase
Risk Allele: T (P=6.00*10-14)
Context: missense_variant
Study title: Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. (R)
Initial sample size: 19,223 British ancestry individuals from 6863 families.
Replication sample size:
Journal: Genome Med (R)
Year published: March 7, 2017
Strength of evidence: Strong

Disease/Trait: Total Cholesterol Measurement

The T allele of rs7412 is reported to be associated with Total Cholesterol Measurement(R). Your genotype was not identified for this SNP so we are unable to comment on your association with Cholesterol, total.

Reported risk allele frequency: 7.79%
Reported genes: APOE
Beta coefficient: 0.41957754 mg/dl decrease
Risk Allele: T (P=5.00*10-94)
Context: missense_variant
Study title: Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. (R)
Initial sample size: 19,259 British ancestry individuals from 6863 families.
Replication sample size:
Journal: Genome Med (R)
Year published: March 7, 2017
Strength of evidence: Strong

Disease/Trait: Ldl Cholesterol Change Measurement

The T allele of rs7412 is reported to be associated with Ldl Cholesterol Change Measurement. Your genotype was not identified for this SNP so we are unable to comment on your association with LDL cholesterol levels.

Reported risk allele frequency: None
Reported genes: APOE
Beta coefficient: 0.313 mmol/L decrease
Risk Allele: T (P=7.00*10-15)
Context: missense_variant
Study title: Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study. (R)
Initial sample size: 862 Han Chinese ancestry cases, 880 Han Chinese ancestry controls
Replication sample size: 656 Han Chinese ancestry cases, 933 Han Chinese ancestry controls
Journal: J Cell Mol Med (R)
Year published: March 30, 2017
Strength of evidence: Strong

Disease/Trait: Pulse Pressure Measurement

The T allele of rs7412 is reported to be associated with Pulse Pressure Measurement(R). Your genotype was not identified for this SNP so we are unable to comment on your association with Pulse pressure.

Reported risk allele frequency: 7.84%
Reported genes: APOE
Beta coefficient: 0.3826 unit decrease
Risk Allele: T (P=4.00*10-10)
Context: missense_variant
Study title: Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk. (R)
Initial sample size: 140,886 European ancestry individuals
Replication sample size: 190,318 European ancestry individuals
Journal: Nat Genet (R)
Year published: Jan. 30, 2017
Strength of evidence: Strong