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

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

doi:10.1016/j.neulet.2013.09.058

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

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

Producción científica: Article › revisión exhaustiva

88 Citas (Scopus)

Resumen

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.

Idioma original	English
Páginas (desde-hasta)	58-62
Número de páginas	5
Publicación	Neuroscience Letters
Volumen	556
DOI	https://doi.org/10.1016/j.neulet.2013.09.058
Estado	Published - nov 27 2013

Nota bibliográfica

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 ).

Financiación

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 ).

Financiadores	Número del financiador
National Institutes of Health (NIH)	P20-GM103436, P30-AG028383
National Institutes of Health (NIH)
National Institute on Aging	P01AG030128
National Institute on Aging
University of Kentucky

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ASJC Scopus subject areas

General Neuroscience

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10.1016/j.neulet.2013.09.058

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title = "ABCA7 expression is associated with Alzheimer's disease polymorphism and disease status",

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, Alzheimer's, Microglia, Phagocytosis, SNP",

author = "Vasquez, \{Jared B.\} and Fardo, \{David W.\} and Steven Estus",

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 ). ",

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T1 - ABCA7 expression is associated with Alzheimer's disease polymorphism and disease status

AU - Vasquez, Jared B.

AU - Fardo, David W.

AU - Estus, Steven

N1 - 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 ).

PY - 2013/11/27

Y1 - 2013/11/27

N2 - 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.

AB - 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.

KW - ABCA7

KW - Alzheimer's

KW - Microglia

KW - Phagocytosis

KW - SNP

UR - https://www.scopus.com/pages/publications/84887235001

UR - https://www.scopus.com/pages/publications/84887235001#tab=citedBy

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DO - 10.1016/j.neulet.2013.09.058

M3 - Article

C2 - 24141082

AN - SCOPUS:84887235001

SN - 0304-3940

VL - 556

SP - 58

EP - 62

JO - Neuroscience Letters

JF - Neuroscience Letters

ER -

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

Resumen

Nota bibliográfica

Financiación

ODS de las Naciones Unidas

ASJC Scopus subject areas

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