rs7412, APOE

N. diseases: 47
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperlipoproteinemia Type III
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
0.700 GeneticVariation UNIPROT
Aortic Aneurysm, Abdominal
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
0.010 GeneticVariation BEFREE Men heterozygote for the ApoE p.Arg176Cys polymorphism had slower AAA growth, odds ratio for AAA progression> or =median 0.41, 95% confidence intervals 0.21-0.80, p=0.01. 19818961 2010
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.020 GeneticVariation BEFREE Of the 3 SNPs most significantly associated with MI, rs7412, which defines the Apo E2 isoform, was associated with both a lower Apo B/A1 ratio (P=1.0x10(-7)) and lower MI risk (P=0.0004). 20031563 2009
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
0.010 GeneticVariation BEFREE Disease association analysis revealed a susceptibility haplotype CGTC (in order of rs440446, rs769450, rs429358, rs7412) and the carriers of this haplotype has higher risk of osteopenia (OR 3.53, 95% CI 1.21-11.0, P=0.017) and osteoporosis (OR 3.61, 95% CI 1.53-9.48, P=0.002) after adjusting the confounding effect of age, BMI and years since menopause. 20663622 2010
Osteopenia
CUI: C0029453
Disease: Osteopenia
0.010 GeneticVariation BEFREE Disease association analysis revealed a susceptibility haplotype CGTC (in order of rs440446, rs769450, rs429358, rs7412) and the carriers of this haplotype has higher risk of osteopenia (OR 3.53, 95% CI 1.21-11.0, P=0.017) and osteoporosis (OR 3.61, 95% CI 1.53-9.48, P=0.002) after adjusting the confounding effect of age, BMI and years since menopause. 20663622 2010
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. 20838585 2010
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.010 GeneticVariation BEFREE We reach four principal conclusion from this study: 1) rs429358 alone is responsible for the association of APOE with dementia; 2) The association of APOE with dementia is substantially mediated by its effect on CNS Aß42 levels; 3) The association of APOE with dementia is not mediated by its impact on peripheral lipid metabolism; and 4) The dichotomy of effects of rs429358 and rs7412 represents one of the best examples of genetic pleiotropy for complex traits known and illustrates the importance of allelic heterogeneity in APOE. 20847432 2010
Dementia
CUI: C0497327
Disease: Dementia
0.010 GeneticVariation BEFREE We reach four principal conclusion from this study: 1) rs429358 alone is responsible for the association of APOE with dementia; 2) The association of APOE with dementia is substantially mediated by its effect on CNS Aß42 levels; 3) The association of APOE with dementia is not mediated by its impact on peripheral lipid metabolism; and 4) The dichotomy of effects of rs429358 and rs7412 represents one of the best examples of genetic pleiotropy for complex traits known and illustrates the importance of allelic heterogeneity in APOE. 20847432 2010
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 GeneticVariation BEFREE Apolipoprotein E (APOE) genotype (ε2/ε3/ε4: rs429358 ε4 allele; rs7412 ε2 allele) is strongly associated with both lipid levels and Alzheimer's disease. 21215387 2011
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.010 GeneticVariation BEFREE Analyses showed no significant effects of APOE rs7412 and APOE rs429358 on the frequencies of the allele and genotype between subjects with T2D with and without DN. 21689001 2011
Lipids measurement
CUI: C0523744
Disease: Lipids measurement
0.800 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
Lipids measurement
CUI: C0523744
Disease: Lipids measurement
0.800 GeneticVariation GWASCAT Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
response to statin
CUI: C3549252
Disease: response to statin
0.700 GeneticVariation GWASCAT 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. 22331829 2012
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.020 GeneticVariation BEFREE Despite sufficient power to detect associations at genome-wide significance thresholds across a range of ORs, our analyses did not support a role of rs429358 or rs7412 on MS susceptibility. 22972946 2012
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.730 GeneticVariation BEFREE CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7 × 10(-8)), APOA5 rs662799 (p=0.0014), LDLR rs1433099 (p=2.1 × 10(-7)), and APOE rs7412 (p=6.1 × 10(-13)). 23050023 2012
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASDB SNP rs7412 in APOE was strongly associated with LDL-C in both datasets (p < 5 × 10(-8) ). 23067351 2012
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT SNP rs7412 in APOE was strongly associated with LDL-C in both datasets (p < 5 × 10(-8) ). 23067351 2012
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. 23067351 2012
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASDB Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study. 23100282 2013
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study. 23100282 2013
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.700 GeneticVariation GWASDB Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese. 23103227 2012
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASDB Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. 24023260 2013