title: Ethnicity-dependent genetic association of ABCA2 with sporadic Alzheimer's 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.
authors.affiliation: Division of Psychiatry Research, University of Zürich, Switzerland. awollmer@bli.unizh.ch
authors.forename: M Axel
authors.initials: MA
authors.lastname: Wollmer
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Kapaki
authors.forename: Martin
authors.initials: M
authors.lastname: Hersberger
authors.forename: Jörg
authors.initials: J
authors.lastname: Muntwyler
authors.forename: Fabienne
authors.initials: F
authors.lastname: Brunner
authors.forename: Magdalini
authors.initials: M
authors.lastname: Tsolaki
authors.forename: Hiroyasu
authors.initials: H
authors.lastname: Akatsu
authors.forename: Kenji
authors.initials: K
authors.lastname: Kosaka
authors.forename: Makoto
authors.initials: M
authors.lastname: Michikawa
authors.forename: Dimitra
authors.initials: D
authors.lastname: Molyva
authors.forename: Giorgos P
authors.initials: GP
authors.lastname: Paraskevas
authors.forename: Dieter
authors.initials: D
authors.lastname: Lütjohann
authors.forename: Arnold
authors.initials: A
authors.lastname: von Eckardstein
authors.forename: Christoph
authors.initials: C
authors.lastname: Hock
authors.forename: Roger M
authors.initials: RM
authors.lastname: Nitsch
authors.forename: Andreas
authors.initials: A
authors.lastname: Papassotiropoulos
mesh_terms: 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
chemical_list: C418186:ABCA2 protein, human; D018528:ATP-Binding Cassette Transporters; D002784:Cholesterol