An increasing number of studies suggest that cholesterol plays an important role in regulating beta-amyloid (Aβ) metabolism in Alzheimer's disease (AD). One of the most important mechanisms for the elimination of excess brain cholesterol is its conversion into the 24S-hydroxycholesterol catalyzed by cholesterol 24S-hydroxylase (CYP46). Preliminary evidence indicates that an intron 2 CYP46 T/C gene polymorphism is associated with increased brain Aβ load and higher risk of AD. A case-control study utilizing a clinically well-defined group of 321 sporadic AD patients and 315 control subjects was performed to test this association. Our results indicate that the intron 2 CYP46 C/C genotype may predispose to AD, and this association is independent of the apolipoprotein E genotype. Copyright © 2004 S. Karger AG, Basel.
CITATION STYLE
Combarros, O., Infante, J., Llorca, J., & Berciano, J. (2004). Genetic association of CYP46 and risk for Alzheimer’s disease. Dementia and Geriatric Cognitive Disorders, 18(3–4), 257–260. https://doi.org/10.1159/000080025
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