|
Age related macular degeneration
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
This result is at least as important at the population level as ApoE4 and Alzheimer's disease, playing a role in almost 60% of AMD at the population level.
|
16905558 |
2006 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association between apolipoprotein E polymorphisms and age-related macular degeneration: A HuGE review and meta-analysis.
|
16916985 |
2006 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a global marker for age-related macular degeneration.
|
16936080 |
2006 |
|
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
BEFREE |
No significant association was observed between neovascular AMD and APOE or ELOVL4.
|
17210851 |
2007 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Consistent with previous studies, the APOE epsilon2 allele is associated with a significant increased risk of late ARM development, whereas the epsilon4 allele may confer some protection.
|
17210854 |
2007 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In addition, susceptibility variants at other loci, several as yet unidentified, make substantial cumulative contribution to genetic risk for AMD; among these, multiple studies support the role of variants in APOE and C2/BF genes.
|
17911160 |
2007 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found no association between AMD and APOE polymorphism in a population of 96 individuals aged 50-75 years.
|
18498549 |
2008 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Since single nucleotide polymorphism (SNP) rs405509:G>T is a constituent of the extended epsilon-haplotype block and is known to significantly influence APOE promoter activity, we hypothesize that both the relative rate of APOE isoform expression in conjunction with established functional differences of the respective isoforms may be crucial in mediating AMD pathology.
|
19384966 |
2009 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We investigated the frequency of Tyr402His polymorphism of the complement factor H (CFH) gene, Ser69Ala polymorphism at LOC387715, rs11200638 polymorphism of the HTRA1 gene and different apolipoprotein E (ApoE) alleles in Hungarian patients with AMD in order to determine the disease risk conferred by these factors.
|
19845562 |
2011 |
|
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
BEFREE |
Other murine models target genes relevant to AMD, including inflammatory genes such as Cfh(-/-), Ccl2(-/-), Ccr2(-/-), Cx3cr1(-/-), and Ccl2(-/-)/cx3cr1(-/-), oxidative stress associated genes such as Sod1(-/-) and Sod2 knockdown, metabolic pathway genes such as neprilysin(-/-) (amyloid beta), transgenic mcd/mcd (cathepsin D), Cp(-/-)/Heph(-/Y) (ferroxidase ceruloplasmin/hepaestin, iron metabolism), and transgenic ApoE4 on high fat and high cholesterol diet (lipid metabolism).
|
20206286 |
2010 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The authors included only the 10,623 control subjects from these studies who were classified as having no evidence of AMD, since variation within the APOE gene has previously been associated with AMD.
|
21498624 |
2011 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
APOE ε3ε3 was the most frequent genotype, with a frequency of 72.6% in controls, 72.5% in early AMD, and 70.3% in exudative AMD.
|
21541275 |
2011 |
|
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 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our expanded analysis substantially improves our understanding of the association between the APOE locus and AMD.
|
21882290 |
2011 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
APOE4 carriers may have a reduced risk of intermediate/late AMD (OR = 0.5 [0.3-0.9], P = .015.
|
21906714 |
2011 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |