Alzheimer's Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Alzheimer's Disease, including details on diagnosis, memory loss, heredity, treatment, medication.

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

Del Bo R, Scarlato M, Ghezzi S, Martinelli-Boneschi F, Fenoglio C, Galimberti G, Galbiati S, Virgilio R, Galimberti D, Ferrarese C, Scarpini E, Bresolin N, Comi GP

Dino Ferrari Centre, Department of Neurological Sciences, University of Milan and Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Padiglione Ponti, Milano, Italy. roberto.delbo@unimi.it

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.

Published 18 April 2006 in Neurobiol Aging, 27(5): 770.e1-770.e5.
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