Genetic Variants of ABCA1 Modify Alzheimer Disease Risk and Quantitative Traits Related to β-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.

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

Citation

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. https://doi.org/10.1002/humu.20012

• 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• Peer Reviewed: Not Peer Reviewed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
• DOI: https://doi.org/10.1002/humu.20012
• Keywords: Alzheimer disease, AD, amyloidosis, ABCA1, haplotype, SNP, amyloid beta, APP
• Public URL: https://uwe-repository.worktribe.com/output/1061228
• Publisher URL: http://dx.doi.org/10.1002/humu.20012