Association between the ABCG2 C421A polymorphism and Alzheimer's disease

Neurosci Lett. 2013 Aug 29;550:51-4. doi: 10.1016/j.neulet.2013.06.044. Epub 2013 Jul 1.

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.

Keywords: ABCG2 C421A (rs2231142); ATP binding cassette subfamily G member 2 (ABCG2); Alzheimer's disease; Breast cancer resistance protein (BCRP); Single nucleotide polymorphism (SNP).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily G, Member 2
  • ATP-Binding Cassette Transporters / genetics*
  • Aged
  • Aged, 80 and over
  • Alleles
  • Alzheimer Disease / genetics*
  • Apolipoproteins E / genetics
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Male
  • Neoplasm Proteins / genetics*
  • Polymorphism, Single Nucleotide*

Substances

  • ABCG2 protein, human
  • ATP Binding Cassette Transporter, Subfamily G, Member 2
  • ATP-Binding Cassette Transporters
  • Apolipoproteins E
  • Neoplasm Proteins