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Genetic Variants of ABCA1 Modify Alzheimer Disease Risk and Quantitative Traits Related to ?-Amylolid Metabolism

Wilcock, Gordon K.; Katzov, Hagit; Chalmers, Katy; Palmgren, Juni; Andreasen, Niels; Johansson, Boo; Cairns, Nigel J.; Gatz, Margaret; Love, Seth; Pedersen, Nancy L.; Brookes, Anthony J.; Blennow, Kaj; Kehoe, Patrick G.; Prince, Jonathan A.


Gordon K. Wilcock

Hagit Katzov

Katy Chalmers

Juni Palmgren

Niels Andreasen

Boo Johansson

Nigel J. Cairns

Margaret Gatz

Seth Love

Nancy L. Pedersen

Anthony J. Brookes

Kaj Blennow

Patrick G. Kehoe

Jonathan A. Prince


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


Wilcock, G. K., Katzov, H., Chalmers, K., Palmgren, J., Andreasen, N., Johansson, B., …Prince, J. A. (2004). Genetic Variants of ABCA1 Modify Alzheimer Disease Risk and Quantitative Traits Related to β-Amylolid Metabolism. Human Mutation, 23(4), 358-367.

Journal Article Type Article
Publication Date Apr 22, 2004
Journal Human Mutation
Print ISSN 1059-7794
Publisher Wiley
Peer Reviewed Not Peer Reviewed
Volume 23
Issue 4
Pages 358-367
Keywords Alzheimer disease, AD, amyloidosis, ABCA1, haplotype, SNP, amyloid beta, APP
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