rs7412, APOE

N. diseases: 47
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.010 GeneticVariation BEFREE The objective of this study was to determine whether three common genetic polymorphisms [apolipoprotein (APOE) ε4 (rs42938 and rs7412), brain derived neurotrophic factor (BDNF) Met (rs6265), and catechol-O-methyltransferase (COMT) Val (rs4680)] are associated with increased psychiatric symptomatology in individuals with pharmacoresistant epilepsy. 30909076 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE We evaluated the influence of CETP (rs5882 and rs708272), APOE (rs7412, rs429358) and LPL (rs328) gene polymorphisms on triglyceride (TG) response to oral fat tolerance test (OFTT) meal in patients with well-controlled type 2 diabetes mellitus (T2DM). 31585025 2019
Cerebral Vasospasm
CUI: C0265110
Disease: Cerebral Vasospasm
0.010 GeneticVariation BEFREE Data included demographic information, genetic sampling for the APOE gene and single-nucleotide polymorphisms (SNPs; rs405509, rs429358, rs7412), and daily transcranial Doppler ultrasounds to evaluate for CV. 29996665 2018
Hepatitis E
CUI: C0085293
Disease: Hepatitis E
0.010 GeneticVariation BEFREE In addition, our results suggested that rs7412 C to T variation in APOE was significantly associated with lower risk of HEV infection in males (adjusted OR < 1.0, P < 0.05) but not in females. 29558945 2018
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
0.010 GeneticVariation BEFREE This study aimed to evaluate the association of AMD with ApoE gene polymorphism variants (rs7412 and rs429358). 29851526 2018
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.010 GeneticVariation BEFREE Two APOE cSNPs (rs429358 and rs7412) resulting in three isoforms and M129V (rs1799990) polymorphism of PRNP were examined for their association with WD and its clinical phenotypes. 29059476 2018
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
0.010 GeneticVariation BEFREE The current study aimed to investigate the genetic association between FH disease and ApoE gene polymorphisms (rs429358 and rs7412) in the Saudi population. 30235358 2018
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.010 GeneticVariation BEFREE A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T - A222V, rs1801133), MTHFR (1298A > C - E429A, rs1801131), FGB (-455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G - rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) - were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD). 27629735 2016
AURAL ATRESIA, CONGENITAL
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
0.010 GeneticVariation BEFREE We analyzed the genotypes frequency of APOA1 (rs5069, rs670), CLU (rs11136000, rs1532278, rs7012010, rs9331888) and APOE (rs429358, rs7412) in a cohort of patients with CAA-associated intracerebral hemorrhage (ICH) (n = 59) and compared the results with those from hypertension-associated ICH (n = 42), AD patients (n = 73) and controls (n = 88). 26661731 2016
Chronic Periodontitis
CUI: C0266929
Disease: Chronic Periodontitis
0.010 GeneticVariation BEFREE The genomic DNA of 294 patients with CP and 175 healthy/non-periodontitis controls were genotyped, using the real-time polymerase chain reaction (RT-PCR) method, for ApoE (rs429358 and rs7412) gene polymorphisms. 25545672 2015
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
0.010 GeneticVariation BEFREE After taking into account confounding factors and correcting for multiple comparisons only APOE rs429358 and rs7412 variants remained significantly associated with risk of dyslipidemia. 26043189 2015
Periodontitis
CUI: C0031099
Disease: Periodontitis
0.010 GeneticVariation BEFREE The genomic DNA of 294 patients with CP and 175 healthy/non-periodontitis controls were genotyped, using the real-time polymerase chain reaction (RT-PCR) method, for ApoE (rs429358 and rs7412) gene polymorphisms. 25545672 2015
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.010 GeneticVariation BEFREE Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. 25176936 2014
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.010 GeneticVariation BEFREE We demonstrate that except of TG, Apo A5 T-1131C (rs662799) and Apo E (rs429358, rs7412) polymorphisms have no remarkable effect on MetS characteristics. 24709297 2014
Hyperlipidemia, Familial Combined
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
0.010 GeneticVariation BEFREE Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL. 25176936 2014
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
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
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
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
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
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 In search of genetic markers of myocardial infarction (MI) risk, which have prognostic significance for Russians, we performed a replication study of MI association with genetic variants of <i>PCSK9</i> (rs562556), <i>APOE</i> (epsilon polymorphism, rs7412 and rs429358), <i>LPL</i> (rs320), <i>MTHFR</i> (rs1801133), <i>eNOS</i> (rs2070744), and the 9p21 region (rs1333049) in 405 patients with MI and 198 controls. 29340220 2019
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.020 GeneticVariation BEFREE The association of the MS severity score (MSSS) and APOE rs429358 and rs7412 was assessed across 3237 MS patients using linear regression analyses. 26669675 2015
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
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