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

Research output: Contribution to journalArticlepeer-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 languageEnglish
Pages (from-to)747-751
Number of pages5
JournalNeurobiology of Aging
Volume25
Issue number6
DOIs
Publication statusPublished - 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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