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PMID: 24141082 Published · ppublish English Journal Article Research Support, N.I.H., Extramural

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

Neuroscience letters ·Vol. 556 ·2013-11-27 ·Pages 58-62

Vasquez JB, Fardo DW, Estus S

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.

Keywords
ABCA7 AD ATP binding cassette A7 Alzheimer's Alzheimer's disease Aβ EIF4H GWAS Microglia Phagocytosis RPL32 SNP amyloid-beta eukaryotic translation initiation factor 4H genome-wide association studies qPCR quantitative polymerase chain reaction ribosomal protein L32 single nucleotide polymorphism
MeSH Terms
ATP-Binding Cassette Transporters/genetics,metabolism Aged Aged, 80 and over Brain/metabolism Genetic Association Studies Genetic Predisposition to Disease Humans Polymorphism, Single Nucleotide Risk Assessment
Chemicals
ABCA7 protein, human ATP-Binding Cassette Transporters
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Vasquez Jared B
Department of Physiology, Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY 40536, United States.
Fardo David W
Estus Steven
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Article Info
Journal
Neuroscience letters
Abbr.
Neurosci Lett
ISSN
1872-7972
DOI
10.1016/j.neulet.2013.09.058
Published
2013-11-27
Epub
2013-00-18
Pages
58-62
Language
English
Region
Ireland
NLM ID
7600130
PMCID
PMC3863933
Subset
IM
Grants
NIA NIH HHS · R56 AG057191 · United States
NIA NIH HHS · K25 AG043546 · United States
NIGMS NIH HHS · P20 GM103436 · United States
NIA NIH HHS · P01 AG030128 · United States
NIA NIH HHS · P30-AG028383 · United States
NIA NIH HHS · P30 AG028383 · United States
NIA NIH HHS · P01-AG030128 · United States
NIGMS NIH HHS · P20-GM103436 · United States
External Links
PubMed source DOI: 10.1016/j.neulet.2013.09.058 PMC Full Text View journal details
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