@article { , title = {Genetic Variants of ABCA1 Modify Alzheimer Disease Risk and Quantitative Traits Related to β-Amylolid Metabolism}, 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}, doi = {10.1002/humu.20012}, issn = {1059-7794}, issue = {4}, journal = {Human Mutation}, pages = {358-367}, publicationstatus = {Published}, publisher = {Wiley}, url = {https://uwe-repository.worktribe.com/output/1061228}, volume = {23}, keyword = {Centre for Health and Clinical Research, Alzheimer disease, AD, amyloidosis, ABCA1, haplotype, SNP, amyloid beta, APP}, year = {2004}, author = {Wilcock, Gordon K. and Katzov, Hagit and Chalmers, Katy and Palmgren, Juni and Andreasen, Niels and Johansson, Boo and Cairns, Nigel J. and Gatz, Margaret and Love, Seth and Pedersen, Nancy L. and Brookes, Anthony J. and Blennow, Kaj and Kehoe, Patrick G. and Prince, Jonathan A.} }