Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE These data reveal that CE independently regulate Tau and Aβ and identify a druggable CYP46A1-CE-Tau axis in AD. 30686764 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 AlteredExpression disease BEFREE These observations provide a platform for structural modifications of efavirenz to modulate CYP46A1 activity as a therapeutic target of brain disorders such as Alzheimer's disease, for which currently no treatment is available. 31845585 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE Previously, we discovered that EFV activates CYP46A1 and improves behavioral performance in 5XFAD mice, an Alzheimer's disease model. 31063705 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE The modulation of CYP46A1 activity by genetic and pharmacologic means is also presented along with a brief synopsis of the two clinical trials that evaluate CYP46A1 as a therapeutic target for Alzheimer's disease as well as Dravet and Lennox-Gastaut syndromes. 31001737 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE However, AD patients with the CYP46A1 TT, but not CC, genotype had higher 24-OHC levels, which indicated that there may be other mechanisms in the relationship between CYP46A1 polymorphisms and AD. 29516283 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 AlteredExpression disease BEFREE Genetically enhanced CYP46A1 expression in mouse models of Alzheimer's disease mitigates the manifestations of this disease. 28655608 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE The oxysterols potentially most closely involved in the pathogenesis of AD are 24-hydroxycholesterol and 27-hydroxycholesterol, respectively deriving from cholesterol oxidation by the enzymes CYP46A1 and CYP27A1. 27687218 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Our results showed that no significant associations between CYP46A1 rs4900442 genetic polymorphism and risk of AD in allele model T vs. C (OR=0.947, 95%CI=0.853-1.051), dominant model CC+TC vs. TT (OR=0.878, 95%CI=0.734-1.049) and recessive model CC vs. TC+TT (OR=0.974, 95%CI=0.826-1.149). 27026489 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE Therefore, CYP46A1 may be a relevant therapeutic target for Tauopathies and especially for AD. 26358780 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Association of CYP46 gene polymorphism with sporadic Alzheimer's disease in Chinese Han populations: a meta-analysis. 23167762 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE In conclusion, our meta-analysis has successfully proved that CC genotype of the CYP46A1 T/C polymorphism could increase the risk of AD, and this effect would be weakened in APOE ε4 non-carriers and strengthened in APOE ε4 carriers. 23070465 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE CYP46A1 intron-2T/C polymorphism and Alzheimer's disease: an updated meta-analysis of 16 studies including 3,960 cases and 3,828 controls. 23792195 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE An intronic CYP46A1 polymorphism is associated with Alzheimer disease in a Chinese Han population. 22528464 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 AlteredExpression disease BEFREE Our data demonstrate that neuronal overexpression of CYP46A1 before or after the onset of amyloid plaques significantly reduces Abeta pathology in mouse models of AD. 19654569 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE CYP46A1 functional promoter haplotypes decipher genetic susceptibility to Alzheimer's disease. 20693622 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Our results suggest that CYP46A1 gene variations might act as risk factor for AD via an influence on brain cholesterol metabolism. 19286353 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE We previously found that the polymorphisms of cholesterol 24-hydroxylase (CYP46A1) gene were associated with the risk of Alzheimer's disease (AD) in Chinese. 19212968 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease CTD_human Our results suggest that CYP46A1 gene variations might act as risk factor for AD via an influence on brain cholesterol metabolism. 19286353 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE The aim of this review is to describe and summarize the findings of the researches about the relationship between CYP46 and AD that have been published in the past 9 years. 19705089 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE A single-nucleotide polymorphism (SNP) in the CYP46A1 gene, designated as rs754203 and associated with Alzheimer disease, was evaluated as a genetic risk factor for primary open-angle glaucoma (POAG), as well as plasma 24S-hydroxycholesterol levels. 19553612 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Logistic regression analysis showed that the highest risk for AD was found for individuals who co-inherited APOE epsilon4 allele, PRNP codon 129 homozygosity, PRND codon 174 Thr allele, and CYP46 rs754203 g allele. 19363267 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 AlteredExpression disease BEFREE One reason may be the previously demonstrated abnormal expression of cholesterol 24S-hydroxylase in astrocytes in AD, which may limit the usefulness of this plasma marker in this specific disease. 19560513 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE The purpose of this case-control study was to determine whether single nucleotide polymorphisms (SNPs) A-->G in the intron 2 of CYP46 gene and G-->A (R219K) in the exon 7 of ABCA1 gene are associated with sporadic AD in the Chinese Han population. 17335784 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Based on the results of genome-wide screens, along with biological studies, we selected three genes as candidates for AD risk factors: ATP-binding cassette transporter A1 (ABCA1), cholesterol 25-hydroxylase (CH25H) and cholesterol 24-hydroxylase (CH24H). 16157450 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE The results supported the involvement of the CYP46A1 gene and cholesterol metabolism in the pathogenesis of AD. 16734927 2006