Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms

Neurosci Lett. 2002 Nov 22;333(2):115-8. doi: 10.1016/s0304-3940(02)01022-4.

Abstract

The biological study of the Nicastrin protein shows its crucial role in the pathogenesis of Alzheimer's disease (AD). We tested the hypothesis that the Nicastrin (NCSTN) gene might be genetically associated with AD. The association analysis of two single nucleotide polymorphisms (SNPs) in the coding region (cSNPs) of NCSTN were performed in an Italian population. No evidence of association was obtained between the two SNPs investigated in sporadic and familial AD cases under the stratification of currently known genetic risk factors including the apolipoprotein E (APOE), the presenilins and the beta-amyloid precursor protein. The result suggests no apparent synergic interaction between the NCSTN and APOE epsilon 4 in the risk to develop the late onset sporadic form of AD. But considering its biological effects, the result can not exclude the NCSTN as candidate for genetic factor in AD. Further genetic study of the NCSTN would be necessary to evaluate the potential genetic involvement in AD.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alzheimer Disease / genetics*
  • Amyloid Precursor Protein Secretases
  • Apolipoprotein E4
  • Apolipoproteins E / genetics
  • Apolipoproteins E / metabolism
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Italien
  • Male
  • Membrane Glycoproteins / genetics*
  • Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Sequence Analysis, DNA

Substances

  • Apolipoprotein E4
  • Apolipoproteins E
  • Membrane Glycoproteins
  • nicastrin protein
  • Amyloid Precursor Protein Secretases

Associated data

  • OMIM/605254

Grants and funding