APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Our results suggest a protective role for APOE-ε2 allele to wet AMD in the Northern Spanish population. 31654486 2019
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Our data demonstrated that ApoE 4/2 genotype was less frequently observed in old patients (65 years and more) with exudative AMD compared to old healthy controls. 29851526 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE The APOE isoform ε2 is a risk factor for age-related macular degeneration; nevertheless, APOE absence in humans and mice does not significantly affect the retina. 30333155 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Cholesterol efflux genes (APOE and ABCA1) were identified as risk factors for AMD, although how cholesterol efflux influences accumulation of this lipid in sub-RPE deposits remains elusive. 28973423 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE Apolipoprotein E (ApoE) and complement activation products such as membrane attack complex (MAC) are present in eyes of individuals with AMD. 28632844 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Stratification analysis by ethnicity revealed that the ApoE ε4 carriers was associated with neovascular AMD in both Caucasians (OR = 0.62, 95% CI = 0.47-0.83) and East Asians (OR = 0.68, 95% CI = 0.58-0.79). 28889998 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE The current study was conducted to investigate the association of Apolipoprotein E (ApoE) polymorphism with the treatment response to ranibizumab for exudative AMD. 26398858 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE The aim of this study was to determine the potential association between 10 single nucleotide polymorphisms (SNPs) located in 4 different genetic regions (CFI, COL8A1, LIPC, and APOE), and choroidal neovascularization in age-related macular degeneration and the development of choroidal neovascularization in highly myopic eyes of a Caucasian population. 27643879 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE Here, we propose that ApoE serves a fundamentally different purpose in regulating cholesterol homeostasis in the retinal pigment epithelium and this could explain why allelic risk factors are flipped for AMD compared to Alzheimer's disease. 26427386 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE A logistic model for early AMD found a significant association with AD diagnosis (p < 0.0001), after adjusting for confounders (age, smoking, hypertension, high and low density lipoproteins, cataract surgery and APOE ε4 carrier status). 27335042 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE However, there have been no reports on gene expression patterns in animal models of non-neovascular AMD with abnormal lipid metabolism such as apolipoprotein E knockout and human apolipoprotein E2 transgenic mice. 25867331 2015
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE In conclusion, our study did not confirm the impact of rs2075650 on advanced AMD risk, indicating that rs2075650 is unlikely a superior marker for APOE/TOMM40 susceptible region with advanced AMD in Han Chinese population. 25304313 2015
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 AlteredExpression disease BEFREE We show that subretinal MPs in AMD patients accumulate on the RPE and express high levels of APOE. 25604058 2015
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE The individual effects on the risk of AMD for 18 of the 19 SNPs were in a consistent direction with those previously reported, including a protective effect of the APOE ε4 allele. 26176866 2015
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE Our study shows that pathogenic subretinal inflammation is APOE isoform-dependent and provides the rationale for the previously unexplained implication of the APOE2 isoform as a risk factor and the APOE4 isoform as a protective factor in AMD pathogenesis. 26446211 2015
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE A spectrum of complement dysregulation was modeled on the APOE4 AMD mouse model by crossing these mice to complement factor H knockout (cfh-/-) mice to test the impact of excess complement activation, and by crossing them to soluble-complement-receptor-1-related protein y (sCrry) mice, in which sCrry acts as a potent inhibitor of mouse complement acting in a manner similar to CFH. 24664701 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Previous reports suggest that the outcome of age-related macular degeneration treatment is dependent on variants in the apolipoprotein E (APOE) gene. 25077528 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE A total of 24 variants from five genes (BCMO1, BCO2, NPCL1L1, ABCG8, and FADS2) not previously related to AMD and four genes related to AMD in previous studies (SCARB1, ABCA1, APOE, and ALDH3A2) were associated independently with AMD, after adjusting for age and ancestry. 24346170 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE To evaluate the effect of simvastatin on AMD progression and the effect modification by polymorphism in apolipoprotein E (ApoE) and complement factor H (CFH) genes. 24391822 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE GWAS meta-analysis confirmed previously reported association of variants at the complement factor H (CFH) (peak P = 1.5×10(-31)) and age-related maculopathy susceptibility 2 (ARMS2) (P = 4.3×10(-24)) loci, and suggested Apolipoprotein E (ApoE) polymorphisms (rs2075650; P = 1.1×10(-6)) associated with early AMD. 23326517 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 Biomarker disease BEFREE Apolipoprotein E gene associations in age-related macular degeneration: the Melbourne Collaborative Cohort Study. 22328704 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE The CD subtype of AMD was significantly associated with current smoking as well as variants in the complement factor H (CFH), age-related maculopathy susceptibility 2 (ARMS2), complement factor B/complement component 2 (CFB/C2), complement component 3 (C3), and apolipoprotein E (APOE) genes. 22933840 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE The genetics of AMD began initially with the appreciation of familial aggregation and increase risk and expanded with the initial association of APOE variants with the disease. 22561651 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.500 GeneticVariation disease BEFREE Consistent with a pathogenic role for Aβ, we show here that a mouse model of AMD that invokes multiple factors that are known to modify AMD risk (aged human apolipoprotein E 4 targeted replacement mice on a high-fat, cholesterol-enriched diet) presents with Aβ-containing deposits basal to the retinal pigmented epithelium (RPE), histopathologic changes in the RPE, and a deficit in scotopic electroretinographic response, which is reflective of impaired visual function. 21690377 2011