Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis

Roberto Del Bo, Marina Scarlato, Serena Ghezzi, Filippo Martinelli-Boneschi, Chiara Fenoglio, Gloria Galimberti, Sara Galbiati, Roberta Virgilio, Daniela Galimberti, Carlo Ferrarese, Elio Scarpini, Nereo Bresolin, Giacomo Pietro Comi

Research output: Contribution to journalArticlepeer-review


The methionine/valine (M/V) polymorphism at codon 129 within the prion protein gene (PRNP) represents a known risk factor for Creutzfeldt-Jakob disease (CJD). Few authors reported also the effects of this polymorphism on the risk of Alzheimer's disease (AD), although with controversial results. To better clarify this issue, we performed a novel case-control study and a meta-analysis of published association studies between PRNP and AD. Our findings argue against PRNP as a susceptibility gene for developing AD in the Italian population but support the hypothesis that the V allele influences cognitive performances. The meta-analysis, revealed that Caucasian subjects homozygous at codon 129 had a 1.3-fold increased risk [95% CI: 1.0-1.6, p = 0.05] of developing AD compared to heterozygous individuals. We also observed that MM genotype and M allele represent a risk factor for AD, independently from the ethnic background, providing a significant but modest association between this polymorphism and AD.

Original languageEnglish
JournalNeurobiology of Aging
Issue number5
Publication statusPublished - May 2006


  • Alzheimer's disease
  • APOE
  • Genetic risk factor
  • Meta-analysis
  • Prion protein gene
  • PRNP variability

ASJC Scopus subject areas

  • Clinical Neurology
  • Biological Psychiatry
  • Developmental Neuroscience
  • Neurology
  • Psychology(all)


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