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A survey of ABCA1 sequence variation confirms association with dementia.

Journal article
Authors Chandra A Reynolds
Mun-Gwan Hong
Ulrika K Eriksson
Kaj Blennow
Anna M Bennet
Boo Johansson
Bo Malmberg
Stig Berg
Fredrik Wiklund
Margaret Gatz
Nancy L Pedersen
Jonathan A Prince
Published in Human mutation
Volume 30
Issue 9
Pages 1348-54
ISSN 1098-1004
Publication year 2009
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Department of Psychology
Pages 1348-54
Language en
Keywords ATP-Binding Cassette Transporters, genetics, Aged, Aged, 80 and over, Base Sequence, Case-Control Studies, Data Collection, Dementia, epidemiology, genetics, Female, Genetic Variation, genetics, Genome-Wide Association Study, Genotype, Haplotypes, Humans, Male
Subject categories Psychiatry, Psychology


We and others have conducted targeted genetic association analyses of ABCA1 in relation to Alzheimer disease risk with a resultant mixture of both support and refutation, but all previous studies have been based upon only a few markers. Here, a detailed survey of genetic variation in the ABCA1 region has been performed in a total of 1,567 Swedish dementia cases (including 1,275 with Alzheimer disease) and 2,203 controls, providing evidence of association with maximum significance at marker rs2230805 (odds ratio [OR]=1.39; 95% confidence interval [CI] 1.23-1.57, p=7.7x10(-8)). Haplotype-based tests confirmed association of this genomic region after excluding rs2230805, and imputation did not reveal additional markers with greater support. Significantly associating markers reside in two distinct linkage disequilibrium blocks with maxima near the promoter and in the terminal exon of a truncated ABCA1 splice form. The putative risk allele of rs2230805 was also found to be associated with reduced cerebrospinal fluid levels of beta-amyloid. The strongest evidence of association was obtained when all forms of dementia were considered together, but effect sizes were similar when only confirmed Alzheimer disease cases were assessed. Results further implicate ABCA1 in dementia, reinforcing the putative involvement of lipid transport in neurodegenerative disease.

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