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.

Del Bo, R., Scarlato, M., Ghezzi, S., Martinelli Boneschi, F., Fenoglio, C., Galimberti, G., et al. (2006). Is M129V of PRNP gene associated with Alzheimer's disease? A case control study and a meta-analysis. NEUROBIOLOGY OF AGING, 27(5), 770-775 [10.1016/j.neurobiolaging.2005.05.025].

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

FERRARESE, CARLO;
2006

Abstract

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.
Articolo in rivista - Articolo scientifico
Scientifica
prions protein gene, Alzheimer's disease, PRNP variability, APOE, genetic risk factor, Meta-analysis
English
770
775
Del Bo, R., Scarlato, M., Ghezzi, S., Martinelli Boneschi, F., Fenoglio, C., Galimberti, G., et al. (2006). Is M129V of PRNP gene associated with Alzheimer's disease? A case control study and a meta-analysis. NEUROBIOLOGY OF AGING, 27(5), 770-775 [10.1016/j.neurobiolaging.2005.05.025].
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, G
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/4027
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