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

Antonio Orlacchio, Toshitaka Kawarai, Mario Polidoro, Alessandro Stefani, Aldo Orlacchio, Peter H. St George-Hyslop, Giorgio Bernardi

Research output: Contribution to journalArticlepeer-review


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 β-amyloid precursor protein. The result suggests no apparent synergic interaction between the NCSTN and APOE ε4 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.

Original languageEnglish
Pages (from-to)115-118
Number of pages4
JournalNeuroscience Letters
Issue number2
Publication statusPublished - Nov 22 2002


  • Alzheimer's disease
  • Nicastrin gene
  • Single nucleotide polymorphisms

ASJC Scopus subject areas

  • Neuroscience(all)


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