Genetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism

H Katzov, KA Chalmers, J Palmgren, N Andreasen, B Johansson, NJ Cairns, M Gatz, GK Wilcock, S Love, NL Pedersen, AJ Brookes, K Blennow, PG Kehoe, JA Prince

Research output: Contribution to journalArticle (Academic Journal)peer-review

114 Citations (Scopus)

Abstract

Linkage studies have provided evidence that one or more loci on chromosome 9q influence Alzheimer disease (AD). The gene encoding the ATP-binding cassette A1 transporter (ABCA1) resides within proximity of previously identified linkage peaks and represents a plausible biological candidate for AD due to its central role in cellular lipid homeostasis. Several single nucleotide polymorphisms (SNPs) spanning ABCA1 have been genotyped and haplotype-based association analyses performed in four independent case-control samples, consisting of over 1,750 individuals from three European populations representing both early and late-onset AD. Prominent effects were observed for a common (H2) and rarer haplotype (H5) that were enriched in AD cases across studied populations (odds ratio [OR] 1.59, 95% confidence interval [CI] 1.36-1.82; P
Translated title of the contributionGenetic variants of ABCA1 modify Alzheimer disease risk and quantitative traits related to beta-amyloid metabolism
Original languageEnglish
Pages (from-to)358 - 367
Number of pages10
JournalHuman Mutation
Volume23(4)
DOIs
Publication statusPublished - Apr 2004

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