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Genetic association of ABCA1 or the ATP-binding cassette A1 transporter with late-onset Alzheimer's disease (LOAD) has recently been proposed for a haplotype comprised of three single nucleotide polymorphisms (SNPs). We have genotyped these and other ABCA1 SNPs in a LOAD case-control series of 796 individuals (419 cases versus 377 controls) collected at Washington University. While our sample series is larger and thus presumably has greater power than any of the series used to implicate ABCA1, we were unable to replicate the published association, using either single markers or multiple marker haplotypes. Further, we did not observe significant and replicated association of other ABCA1 SNPs we examined with the disease, thus these ABCA1 variants do not appear to influence the risk of LOAD in this study.

Original publication

DOI

10.1016/j.neulet.2004.05.047

Type

Journal article

Journal

Neurosci Lett

Publication Date

19/08/2004

Volume

366

Pages

268 - 271

Keywords

ATP Binding Cassette Transporter 1, ATP-Binding Cassette Transporters, Aged, Aged, 80 and over, Alzheimer Disease, Case-Control Studies, Female, Humans, Linkage Disequilibrium, Male, Polymorphism, Single Nucleotide, RNA, Messenger, Reverse Transcriptase Polymerase Chain Reaction