title: Epidemiological genetics and meta-analysis of a polymorphism at codon 129 of the PRNP gene in Alzheimer's disease in Brazil.
abstract: The polymorphism at codon 129 of the prion protein gene (PRNP) is a major risk factor for Creutzfeldt-Jakob disease (CJD). Several authors reported neuropathological and clinical overlapping between CJD and Alzheimer's disease (AD), with a few association studies generating conflicting results. To investigate the distribution of this polymorphism in AD, we selected 58 patients with probable AD and 73 controls from a Brazilian population. There was no association between the PRNP polymorphism at codon 129 and AD. Our meta-analysis (performed using Alzgene; http://www.alzgene.org) along with previous studies conducted in Brazil demonstrated a negative association.
authors.forename: Lylyan Fragoso
authors.initials: LF
authors.lastname: Pimentel
authors.forename: José Eriton
authors.initials: JE
authors.lastname: Gomes da Cunha
authors.forename: Renato Lírio
authors.initials: RL
authors.lastname: Morelato
authors.forename: Flávia
authors.initials: F
authors.lastname: de Paula
authors.forename: João Ricardo Mendes
authors.initials: JR
authors.lastname: de Oliveira
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D001938:Brazil / Q000453:epidemiology; D003062:Codon; D005260:Female; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*
chemical_list: D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions
keywords: Alzheimer’s disease,; Creutzfeldt–Jakob disease,; E200K mutation,; M129V polymorphism,; PRNP