Characterization of two APP gene promoter polymorphisms that appear to influence risk of late-onset Alzheimer's disease

Neurobiol Aging. 2005 Nov-Dec;26(10):1329-41. doi: 10.1016/j.neurobiolaging.2004.11.005. Epub 2004 Dec 22.

Abstract

Alzheimer's disease (AD) is characterized by formation of plaques of amyloid beta peptide (Abeta). Autosomally-inherited or "familial" AD had been demonstrated only in connection with coding sequence mutations. We characterized DNA-protein interaction and expression influence of two polymorphisms that occur in the promoter (C<-->T at -3829 and T<-->C at -1023, +1 transcription start site) of the Abeta precursor protein (APP) gene. We report distinct functional differences in reporter expression and in DNA-protein interaction for variant sequences in both -3829 and -1023 polymorphic regions. The -3829T variant has reduced DNA-protein interaction and reporter expression compared to -3829C, while -1023C has greater DNA-protein interaction and reporter expression than -1023T. Our predictions for likely transcription factors for loss of function (-3829T) are ADR1, MIG1, and PuF, and for gain of function (-1023C) are E12/E47, ITF-2, and RFX2. Characterization of the activity of a regulatory polymorphism of the APP gene points towards understanding mechanisms that likely underlie the majority of AD cases and may contribute to promoter-based drug design.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alzheimer Disease / genetics*
  • Amyloid beta-Protein Precursor / genetics*
  • Base Sequence
  • Cell Line, Tumor
  • Cloning, Molecular / methods
  • Electrophoretic Mobility Shift Assay / methods
  • Gene Expression Regulation / physiology
  • Humans
  • Models, Molecular
  • Neuroblastoma
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic / genetics*
  • Regulatory Sequences, Nucleic Acid
  • Risk

Substances

  • Amyloid beta-Protein Precursor