Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ϵ4, and the Risk of Late-Onset Alzheimer Disease in African Americans

Reitz, Christiane; Jun, Gyungah; Naj, Adam C.; Rajbhandary, Ruchita; Vardarajan, Badri N.; Wang, Li San; Valladares, Otto; Lin, Chiao Feng; Larson, Eric B.; Graff‐Radford, Neill R.; Evans, Denis A.; Jager, Philip L. De; Crane, Paul K.; Buxbaum, Joseph D.; Murrell, Jill R.; Raj, Towfique; Ertekin-Taner, Nilüfer; Logue, Mark W.; Baldwin, Clinton T.; Green, Robert C.; Barnes, Lisa L.; Cantwell, Laura B.; Fallin, M. Daniele; Go, Rodney C.P.; Griffith, Patrick; Obisesan, Thomas O.; Manly, Jennifer J.; Lunetta, Kathryn L.; Kamboh, M. Ilyas; López, Oscar L.; Bennett, David A.; Hendrie, Hugh C.; Hall, Kathleen; Goate, Alison M.; Byrd, Goldie S.; Kukull, Walter A.; Foroud, Tatiana; Haines, Jonathan L.; Farrer, Lindsay A.; Pericak‐Vance, Margaret A.; Schellenberg, Gerard D.; Mayeux, Richard

doi:10.1001/jama.2013.2973

Cited by 393 publications

(400 citation statements)

References 52 publications

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“…However, less than 1 percent of the sample had the genetic marker; thus, the new finding explains only a small proportion of risk differences. Other recent studies have proposed several novel candidate genes as having a role in AD pathogenesis, including PROX1 (OMIM *601546) and CNTNAP2 (OMIM *604569), as well as ABCA7, CR1, BIN1, EPHA1, TREM2, SORL1, and CD33 (Reitz et al, 2013).…”

Section: Geneticsmentioning

confidence: 99%

Racial and Ethnic Disparities Among Individuals with Alzheimer’s Disease in the United States: A Literature Review

Lines¹,

Sherif²,

Wiener³

2014

115

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This study reviews the published literature on racial and ethnic disparities among people with Alzheimer’s disease (AD) and related dementias in the United States. To identify relevant studies, we searched electronic sources for peer-reviewed journal articles and unpublished research reports that were published through July 2014; related to the AD population and their caregivers; and provided evidence of racial and ethnic disparities, discussed reasons for disparities, or described interventions to address disparities. The literature shows consistent and adverse disparities among blacks and Hispanics compared with non-Hispanic whites concerning AD, including the disease’s prevalence and incidence, mortality, participation in clinical trials, use of medications and other interventions, use of long-term services and supports, health care expenditures, quality of care, and caregiving. The literature suggests numerous underlying causes, including factors related to measurement of the disease, genetics, socioeconomic factors, cultural differences, lack of culturally competent clinicians, and discrimination. Although these disparities are well known, little is known about the effectiveness of various strategies, such as cultural competence training, to address these differences, and very few studies evaluate possible interventions.

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Section: Geneticsmentioning

confidence: 99%

Racial and Ethnic Disparities Among Individuals with Alzheimer’s Disease in the United States: A Literature Review

Lines¹,

Sherif²,

Wiener³

2014

115

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“…Genome-wide significance in fully adjusted models was observed for a single-nucleotide polymorphism (SNP) in ABCA7 (rs115550680, allele = G; frequency, 0.09 cases and 0.06 controls), which is in linkage disequilibrium with SNPs associated with AD in Europeans. The effect size for the SNP in ABCA7 was comparable with that of the APOE ε4-determining SNP rs429358 (allele = C; frequency, 0.30 cases and 0.18 controls) [5].…”

mentioning

confidence: 69%

“…ATP-binding cassette (ABC) transporters, which are localized on the surface of brain endothelial cells of the BBB and brain parenchyma, affect Aβ transport (flux) across the BBB contributing to the pathogenesis of Alzheimer's disease (AD) [5][6][7][8][9][10][11][12]. One of the clearance pathways of amyloid-β is transport across the BBB via efflux transporters.…”

mentioning

confidence: 99%

“…One of the clearance pathways of amyloid-β is transport across the BBB via efflux transporters. Several BBB transporters have been implicated in Aβ exchange between brain parenchyma and the circulation [5][6][7][8][9][10][11][12]. Deficiency of either of the two major efflux pumps, ABCB1 and ABCG2, involved in Aβ trafficking across the BBB, results in increased accumulation of peripherallyinjected Aβ in the brain [13].…”

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confidence: 99%

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The ABCB1 Transporter in Alzheimer’s Disease

López‐Muñoz¹,

Cacabelos²

2014

Clin Exp Pharmacol

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“…Several lines of evidence implicate a role for ABCA7 in the regulation of Alzheimer's disease (AD) risk and amyloid pathology. Data from human genome-wide association studies (GWAS) indicate ABCA7 is a risk factor for late-onset AD [4][5][6][7][8][9]. Additional genetic studies confirm the important association of ABCA7 single nucleotide polymorphisms (SNPs) and methylation changes with AD [7][8][9], and recent work highlights that loss-of-function ABCA7 variants confer increased AD Abbreviations: Aβ, amyloid-β peptide; Abca7 − / − , Abca7 gene knockout mouse; ABCA7, ATP-binding cassette transporter, subfamily A, member 7; AD, Alzheimer's disease; APP , amyloid-β precursor protein; BrdU, bromodeoxyuridine; DCX, doublecortin; DG, dentate gyrus; PFA, paraformaldehyde; SNP , single nucleotide polymorphism; SVZ, subventricular zone; WT, wild-type-like.…”

Section: Introductionmentioning

confidence: 99%

Abca7 deletion does not affect adult neurogenesis in the mouse

Karl

Garner

2016

Bioscience Reports

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SynopsisATP-binding cassette transporter A7 (ABCA7) is highly expressed in the brain. Recent genome-wide association studies (GWAS) have identified ABCA7 single nucleotide polymorphisms (SNPs) that increase Alzheimer's disease (AD) risk, however, the mechanisms by which ABCA7 may control AD risk remain to be fully elucidated. Based on previous research suggesting that certain ABC transporters may play a role in the regulation of neurogenesis, we conducted a study of cell proliferation and neurogenic potential using cellular bromodeoxyuridine (BrdU) incorporation and doublecortin (DCX) immunostaining in adult Abca7 deficient mice and wild-type-like (WT) littermates. In the present study counting of BrdU-positive and DCX-positive cells in an established adult neurogenesis site in the dentate gyrus (DG) indicated there were no significant differences when WT and Abca7 deficient mice were compared. We also measured the area occupied by immunohistochemical staining for BrdU and DCX in the DG and the subventricular zone (SVZ) of the same mice and this confirmed that ABCA7 does not play a significant role in the regulation of cell proliferation or neurogenesis in the adult mouse.

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Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ϵ4, and the Risk of Late-Onset Alzheimer Disease in African Americans

Cited by 393 publications

References 52 publications

Racial and Ethnic Disparities Among Individuals with Alzheimer’s Disease in the United States: A Literature Review

Racial and Ethnic Disparities Among Individuals with Alzheimer’s Disease in the United States: A Literature Review

The ABCB1 Transporter in Alzheimer’s Disease

Abca7 deletion does not affect adult neurogenesis in the mouse

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