Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: From risk factors to disease modulators

Barbara Borroni; Silvana Archetti; Chiara Agosti; Nabil Akkawi; Cristina Brambilla; Luigi Caimi; Carlo Caltagirone; Monica Di Luca; Alessandro Padovani

doi:10.1016/j.neurobiolaging.2003.08.004

Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: From risk factors to disease modulators

Barbara Borroni, Silvana Archetti, Chiara Agosti, Nabil Akkawi, Cristina Brambilla, Luigi Caimi, Carlo Caltagirone, Monica Di Luca, Alessandro Padovani

Fondazione Santa Lucia

Research output: Contribution to journal › Article › peer-review

Abstract

Increasing biological and clinical findings argue for a link between brain cholesterol turnover and Alzheimer Disease (AD), high cerebral levels of the former increasing Aβ load. Cerebral cholesterol elimination involves two mechanisms dependent on Apolipoprotein E (ApoE) and cholesterol 24-hydroxylase (CYP46). The aim of this study was to evaluate an intronic variation in CYP46 (intron 2, T→C) along with ApoE genotype as risk factors for AD and to establish the correlation between CYP46/ApoE polymorphism and disease progression. One-hundred and fifty-seven AD patients, who had been followed periodically through 1-year follow-up after enrolment, and 134 age- and gender-matched controls entered the study. The distribution of CYP46 genotypes was significantly different in AD compared to controls (P*C allele higher in AD patients (P*C carriers was 2.8, and in ApoE ε4 carriers was 4.05; the OR for having both CYP46 ^*C and ApoE ε4 was 17.75, demonstrating the their synergic effect on AD risk. In AD patients, CYP46^*C along with ApoE ε4 genotype were associated with a higher cognitive decline at 1-year follow-up (P

Original language	English
Pages (from-to)	747-751
Number of pages	5
Journal	Neurobiology of Aging
Volume	25
Issue number	6
DOIs	https://doi.org/10.1016/j.neurobiolaging.2003.08.004
Publication status	Published - Jul 2004

Keywords

Alzheimer Disease
ApoE
CYP46
Rate of cognitive decline
Risk factors

ASJC Scopus subject areas

Clinical Neurology
Biological Psychiatry
Developmental Neuroscience
Neurology
Psychology(all)

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Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease : From risk factors to disease modulators. / Borroni, Barbara; Archetti, Silvana; Agosti, Chiara; Akkawi, Nabil; Brambilla, Cristina; Caimi, Luigi; Caltagirone, Carlo; Di Luca, Monica; Padovani, Alessandro.

In: Neurobiology of Aging, Vol. 25, No. 6, 07.2004, p. 747-751.

Research output: Contribution to journal › Article › peer-review

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AU - Akkawi, Nabil

AU - Brambilla, Cristina

AU - Caimi, Luigi

AU - Caltagirone, Carlo

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