title: Association between the ABCG2 C421A polymorphism and Alzheimer's disease.
abstract: ATP binding cassette subfamily G member 2 (ABCG2) is involved in amyloid-β transport and was found to be significantly up-regulated in Alzheimer's disease (AD) brain. A functional polymorphism of the ABCG2 gene (C421A; rs2231142) was genotyped in a sample of 299 Hungarian late-onset AD patients and 259 elderly, non-demented controls to investigate for the first time its association with AD, either alone or in combination with apolipoprotein E (APOE) ɛ2/ɛ3/ɛ4 polymorphism. A significantly increased susceptibility to AD (OR=1.741, 95% CI: 1.075-2.819, p=0.024) associated with ABCG2 C/C genotype was found when compared with the variant allele containing genotypes (CA and AA) as the reference category. Logistic regression analysis revealed a significant interaction effect between the ABCG2 C/C genotype and APOE ɛ4 allele on AD risk (p=0.003). It seems that the potential modest risk effect of the ABCG2 C/C genotype on AD risk is more pronounced in combination with the APOE ɛ4 allele. Further independent replications of our findings are required.
authors.affiliation: Department of Psychiatry, University of Szeged, 57 Kálvária Avenue, Szeged H-6724, Hungary. feherag@gmail.com
authors.forename: Ágnes
authors.initials: Á
authors.lastname: Fehér
authors.forename: Anna
authors.initials: A
authors.lastname: Juhász
authors.forename: Anna
authors.initials: A
authors.lastname: László
authors.forename: Magdolna
authors.initials: M
authors.lastname: Pákáski
authors.forename: János
authors.initials: J
authors.lastname: Kálmán
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Janka
mesh_terms: D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C116614:ABCG2 protein, human; D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D018528:ATP-Binding Cassette Transporters; D001057:Apolipoproteins E; D009363:Neoplasm Proteins
keywords: ABCG2 C421A (rs2231142); ATP binding cassette subfamily G member 2 (ABCG2); Alzheimer's disease; Breast cancer resistance protein (BCRP); Single nucleotide polymorphism (SNP)