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


Wollmer, M A; Kapaki, E; Hersberger, M; Muntwyler, J; Brunner, F; Tsolaki, M; Akatsu, H; Kosaka, K; Michikawa, M; Molyva, D; Paraskevas, G P; Lütjohann, D; von Eckardstein, A; Hock, C; Nitsch, R M; Papassotiropoulos, A (2006). Ethnicity-dependent genetic association of ABCA2 with sporadic Alzheimer's disease. American Journal of Medical Genetics. Part B, 141B(5):534-536.

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.

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute for Regenerative Medicine (IREM)
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2006
Deposited On:09 Sep 2011 14:24
Last Modified:07 Dec 2017 09:00
Publisher:Wiley-Blackwell
ISSN:1552-4841
Publisher DOI:https://doi.org/10.1002/ajmg.b.30345
PubMed ID:16752360

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