ABCA7 expression is associated with Alzheimer's disease polymorphism and disease status

Jared B. Vasquez, David W. Fardo, Steven Estus

Research output: Contribution to journalArticlepeer-review

87 Scopus citations

Abstract

Genome-wide association studies (GWAS) have implicated a series of single nucleotide polymorphisms (SNPs) in Alzheimer's disease (AD) risk. Elucidating the function of these SNPs is critical to identify the underlying pathways and, potentially, novel therapeutic agents. SNPs within the gene ATP binding cassette A7 ( ABCA7) reached significance in these studies, warranting investigation into their actions. Here, we analyzed ABCA7 expression in a set of human brain samples as a function of AD-associated SNPs and AD status. We report that the rs3764650T allele that decreases AD risk is associated with increased ABCA7 expression. However, ABCA7 expression is increased in AD individuals. We interpret our findings as suggesting a model wherein increased ABCA7 expression reduces AD risk and that the increased ABCA7 observed in AD reflects an inadequate compensatory change.

Original languageEnglish
Pages (from-to)58-62
Number of pages5
JournalNeuroscience Letters
Volume556
DOIs
StatePublished - Nov 27 2013

Bibliographical note

Funding Information:
The authors acknowledge the NIH (National Institutes of Health) for funding of this work ( P01-AG030128 (S.E.), P30-AG028383 (D.W.F.), P20-GM103436 (D.W.F.) as well as the University of Kentucky Alzheimer's Center for tissue ( P30-AG028383 ).

Funding

The authors acknowledge the NIH (National Institutes of Health) for funding of this work ( P01-AG030128 (S.E.), P30-AG028383 (D.W.F.), P20-GM103436 (D.W.F.) as well as the University of Kentucky Alzheimer's Center for tissue ( P30-AG028383 ).

FundersFunder number
National Institutes of Health (NIH)P20-GM103436, P30-AG028383
National Institutes of Health (NIH)
National Institute on AgingP01AG030128
National Institute on Aging
University of Kentucky

    Keywords

    • ABCA7
    • Alzheimer's
    • Microglia
    • Phagocytosis
    • SNP

    ASJC Scopus subject areas

    • General Neuroscience

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