|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Alzheimer's Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Therefore, CYP46A1 may be a relevant therapeutic target for Tauopathies and especially for AD.
|
26358780 |
2015 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
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 |
|
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Preliminary evidence indicates that an intron 2 CYP46 T/C gene polymorphismis associated with increased brain Abeta load and higher risk of AD.
|
15286456 |
2004 |
|
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
An intronic CYP46A1 polymorphism is associated with Alzheimer disease in a Chinese Han population.
|
22528464 |
2012 |
|
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 |
|
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 |
|
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease.
|
16055229 |
2006 |
|
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our data indicate that the Intron 2 polymorphism of CYP46 does not affect the risk of AD in our sample.
|
12123847 |
2002 |
|
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 |
|
Alzheimer's Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although serum and cerebrospinal fluid (CSF) concentrations of 24S-hydroxycholesterol are altered during the progress of Alzheimer's disease, studies carried out to date in different populations on the association of CYP46 gene polymorphisms and risk of AD have been inconclusive.
|
15936520 |
2005 |