Literature DB >> 16752360

Ethnicity-dependent genetic association of ABCA2 with sporadic Alzheimer's disease.

M Axel Wollmer1, Elisabeth Kapaki, Martin Hersberger, Jörg Muntwyler, Fabienne Brunner, Magdalini Tsolaki, Hiroyasu Akatsu, Kenji Kosaka, Makoto Michikawa, Dimitra Molyva, Giorgos P Paraskevas, Dieter Lütjohann, Arnold von Eckardstein, Christoph Hock, Roger M Nitsch, Andreas Papassotiropoulos.   

Abstract

A recent study demonstrated a significant genetic association between the ATP-binding cassette transporter A2 (ABCA2) and the risk for Alzheimer's disease (AD) in a large Caucasian sample. The rare T allele of the synonymous exonic single nucleotide polymorphism (SNP) rs908832 was overrepresented in early-onset AD patients as compared to cognitively healthy controls. Here we confirm the association of rs908832 with AD in a Western European population (n = 291, P = 0.008). In a second sample from Southern Europe, rs908832 was not associated with AD. Interestingly, rs908832 was not polymorphic in a Japanese sample. Furthermore, rs908832 was not associated with either serum cholesterol levels or with the risk for coronary artery disease, but seemed to be related to cholesterol levels in the cerebrospinal fluid. These data suggest that ABCA2 may exert population-dependent effects on the genetic risk for sporadic AD and support a role of ABC lipid transporters in the pathogenesis of this disease. (c) 2006 Wiley-Liss, Inc.

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Year:  2006        PMID: 16752360     DOI: 10.1002/ajmg.b.30345

Source DB:  PubMed          Journal:  Am J Med Genet B Neuropsychiatr Genet        ISSN: 1552-4841            Impact factor:   3.568


  25 in total

Review 1.  Dyslipidemia and dementia: current epidemiology, genetic evidence, and mechanisms behind the associations.

Authors:  Christiane Reitz
Journal:  J Alzheimers Dis       Date:  2012       Impact factor: 4.472

2.  No association of DAPK1 and ABCA2 SNPs on chromosome 9 with Alzheimer's disease.

Authors:  Ryan L Minster; Steven T DeKosky; M Ilyas Kamboh
Journal:  Neurobiol Aging       Date:  2008-03-11       Impact factor: 4.673

Review 3.  Impaired mitochondrial energy production and ABC transporter function-A crucial interconnection in dementing proteopathies of the brain.

Authors:  Jens Pahnke; Christina Fröhlich; Markus Krohn; Toni Schumacher; Kristin Paarmann
Journal:  Mech Ageing Dev       Date:  2013-09-03       Impact factor: 5.432

4.  The ATP-binding cassette transporter-2 (ABCA2) regulates cholesterol homeostasis and low-density lipoprotein receptor metabolism in N2a neuroblastoma cells.

Authors:  Warren Davis
Journal:  Biochim Biophys Acta       Date:  2011-07-23

5.  The ATP-binding cassette transporter-2 (ABCA2) regulates esterification of plasma membrane cholesterol by modulation of sphingolipid metabolism.

Authors:  Warren Davis
Journal:  Biochim Biophys Acta       Date:  2013-11-05

6.  The ATP-Binding Cassette Transporter-2 (ABCA2) Overexpression Modulates Sphingosine Levels and Transcription of the Amyloid Precursor Protein (APP) Gene.

Authors:  Warren Davis
Journal:  Curr Alzheimer Res       Date:  2015       Impact factor: 3.498

7.  "Skittish" Abca2 knockout mice display tremor, hyperactivity, and abnormal myelin ultrastructure in the central nervous system.

Authors:  Jody T Mack; Vladimir Beljanski; Athena M Soulika; Danyelle M Townsend; Carol B Brown; Warren Davis; Kenneth D Tew
Journal:  Mol Cell Biol       Date:  2006-10-23       Impact factor: 4.272

Review 8.  ATP-binding cassette transporter-2 (ABCA2) as a therapeutic target.

Authors:  Warren Davis; Kenneth D Tew
Journal:  Biochem Pharmacol       Date:  2017-12-06       Impact factor: 5.858

9.  Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-β production by altering Nicastrin maturation and intracellular localization.

Authors:  Vasiliki Michaki; Francesc X Guix; Krist'l Vennekens; Sebastian Munck; Colin Dingwall; John B Davis; Danyelle M Townsend; Kenneth D Tew; Fabian Feiguin; Bart De Strooper; Carlos G Dotti; Tina Wahle
Journal:  J Biol Chem       Date:  2011-11-15       Impact factor: 5.157

10.  The ATP-binding cassette transporter-2 (ABCA2) increases endogenous amyloid precursor protein expression and Aβ fragment generation.

Authors:  W Davis
Journal:  Curr Alzheimer Res       Date:  2010-11       Impact factor: 3.498

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