title: Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis.
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.
authors.affiliation: 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
authors.forename: Roberto
authors.initials: R
authors.lastname: Del Bo
authors.forename: Marina
authors.initials: M
authors.lastname: Scarlato
authors.forename: Serena
authors.initials: S
authors.lastname: Ghezzi
authors.forename: Filippo
authors.initials: F
authors.lastname: Martinelli-Boneschi
authors.forename: Chiara
authors.initials: C
authors.lastname: Fenoglio
authors.forename: Gloria
authors.initials: G
authors.lastname: Galimberti
authors.forename: Sara
authors.initials: S
authors.lastname: Galbiati
authors.forename: Roberta
authors.initials: R
authors.lastname: Virgilio
authors.forename: Daniela
authors.initials: D
authors.lastname: Galimberti
authors.forename: Carlo
authors.initials: C
authors.lastname: Ferrarese
authors.forename: Elio
authors.initials: E
authors.lastname: Scarpini
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
mesh_terms: D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology; D000682:Amyloid / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D016022:Case-Control Studies; D003071:Cognition / Q000502:physiology; D004247:DNA / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D009483:Neuropsychological Tests; D011110:Polymorphism, Genetic / Q000235:genetics; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000235:genetics*
chemical_list: D000682:Amyloid; D001057:Apolipoproteins E; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors; D004247:DNA