Ethnicity-dependent genetic association of ABCA2 with sporadic Alzheimer's disease.
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.
Wollmer
M Axel
MA
Division of Psychiatry Research, University of Zürich, Switzerland. awollmer@bli.unizh.ch
Kapaki
Elisabeth
E
Hersberger
Martin
M
Muntwyler
Jörg
J
Brunner
Fabienne
F
Tsolaki
Magdalini
M
Akatsu
Hiroyasu
H
Kosaka
Kenji
K
Michikawa
Makoto
M
Molyva
Dimitra
D
Paraskevas
Giorgos P
GP
Lütjohann
Dieter
D
von Eckardstein
Arnold
A
Hock
Christoph
C
Nitsch
Roger M
RM
Papassotiropoulos
Andreas
A
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002784:Cholesterol / Q000134:cerebrospinal fluid; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006115:Greece; D006801:Humans; D007564:Japan; D020641:Polymorphism, Single Nucleotide; D013557:Switzerland; D044465:White People / Q000235:genetics
C418186:ABCA2 protein, human; D018528:ATP-Binding Cassette Transporters; D002784:Cholesterol