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.
Is M129V of PRNP gene associated with Alzheimer's disease? : a case-control study and a meta-analysis / R. Del Bo, M. Scarlato, S. Ghezzi, F. Martinelli Boneschi, C. Fenoglio, G. Galimberti, S. Galbiati, R. Virgilio, D. Galimberti, C. Ferrarese, E. Scarpini, N. Bresolin, G.P. Comi. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - 27:5(2006), pp. 770.e1-770.e5.
Is M129V of PRNP gene associated with Alzheimer's disease? : a case-control study and a meta-analysis
R. Del Bo
;F. Martinelli Boneschi;C. Fenoglio;D. Galimberti;E. Scarpini;N. BresolinPenultimo
;G.P. ComiUltimo
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.File | Dimensione | Formato | |
---|---|---|---|
1-s2.0-S0197458005001612-main.pdf
accesso riservato
Tipologia:
Publisher's version/PDF
Dimensione
114.84 kB
Formato
Adobe PDF
|
114.84 kB | Adobe PDF | Visualizza/Apri Richiedi una copia |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.