Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006111
Disease: Brain Diseases
Brain Diseases
0.020 AlteredExpression group 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: C0006111
Disease: Brain Diseases
Brain Diseases
0.020 Biomarker group BEFREE Cholesterol 24-Hydroxylation by CYP46A1: Benefits of Modulation for Brain Diseases. 31001737 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.020 Biomarker group BEFREE Increasing evidence suggests that CYP46A1 has a role in the pathogenesis and progression of neurodegenerative disorders, and that increasing its levels in the brain is neuroprotective. 31286142 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.020 AlteredExpression group BEFREE These "proof of principle" data may have relevance when using mouse models to mimic human disease and in respect of the increasing possibility of treating human neurodegenerative diseases with pharmaceuticals designed to enhance the activity of CYP46A1 or by adeno-associated virus delivery of CYP46A1. 31541728 2019
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
0.010 Biomarker group BEFREE Polymorphisms of cystatin C (CST3) and cholesterol 24-hydroxylase (CYP46) genes, putative risk factors for cerebrovascular disease, were determined.Results. 18511756 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE Ectopic expression of CYP46A1 suppressed cell proliferation and in vivo tumour growth by increasing 24OHC levels. 31777202 2020
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.010 Biomarker group BEFREE Therefore, CYP46A1 may be a relevant therapeutic target for Tauopathies and especially for AD. 26358780 2015
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
0.030 GeneticVariation phenotype BEFREE The combined effects of metabolic syndrome and the apolipoprotein E and CYP46 genotypes on the risk of cognitive decline has yet to be determined among Taiwanese Chinese. 24924840 2014
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
0.030 GeneticVariation phenotype BEFREE These findings provide direct evidence that CYP46 and ApoE polymorphisms synergically increase the risk for AD development, and influence on the rate of cognitive decline. 15165699 2004
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
0.030 GeneticVariation phenotype BEFREE The integrated effect of the cholesterol and CYP46 genotypes on the risk of cognitive decline needs to be determined. 21729100 2011
CUI: C0235272
Disease: Retinal damage
Retinal damage
0.010 AlteredExpression phenotype BEFREE Collectively, the data obtained establish metabolic and regulatory significance of CYP46A1 for the retina and suggest pharmacologic activation of CYP46A1 as a potential therapeutic approach to dyslipidemia-induced retinal damage. 30448403 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood
0.010 Biomarker phenotype BEFREE The results of the present study indicates the possible anti-depressant effect of EFV and pro-depressive-like effect of VRC in specified doses in mice, raising the possibility that stimulation but not inhibition of cholesterol-24S-hydroxylase may be important in the treatment of depression. 28986123 2017
Behavioral and psychological symptoms of dementia
0.010 Biomarker phenotype BEFREE In this research paper, our aim is to evaluate the association between the APOE, CYP46, PRNP and PRND genes and the profile of neuropsychiatric symptoms in Polish subjects with AD and mild cognitive impairment (MCI). 22453181 2012
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 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 In Alzheimer's disease (AD), CYP46A1 shows prominent expression in astrocytes and around amyloid plaques, whereas CYP27A1 expression decreases in neurons and is not apparent around amyloid plaques but increases in oligodendrocytes. 15148325 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE We identified a cluster of polymorphisms in APOE, SOAT1, APOE 5'-untranslated region, OLR1, CYP46A1, LPL, LIPA, and APOA4 conferring significant (p = .0002) susceptibility for Alzheimer's disease. 16013913 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE The results suggest that the decrease of plasma 24S-hydroxycholesterol/cholesterol in severely affected AD patients is a peripheral marker for loss of cholesterol 24S-hydroxylase in the CNS. 10884051 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Moreover, this CYP46 polymorphism was associated with higher risk of late-onset sporadic AD in 2 independent populations (odds ratio, 2.16; 95% confidence interval [CI], 1.41-3.32; P<.001). 12533085 2003
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 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 Lack of association of the cholesterol 24-hydroxylase (CYP46) intron 2 polymorphism with Alzheimer's disease. 15331159 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Association between a T/C polymorphism in intron 2 of cholesterol 24S-hydroxylase gene and Alzheimer's disease in Chinese. 15450677 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease LHGDN Association between a T/C polymorphism in intron 2 of cholesterol 24S-hydroxylase gene and Alzheimer's disease in Chinese. 15450677 2004
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