title: Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease.
abstract: Nonceruloplasmin-bound copper ("free") is reported to be elevated in Alzheimer's disease (AD). In Wilson's disease (WD) Cu-ATPase 7B protein tightly controls free copper body levels. To explore whether the ATP7B gene harbours susceptibility loci for AD, we screened 180 AD chromosomes for sequence changes in exons 2, 5, 8, 10, 14, and 16, where most of the Mediterranean WD-causing mutations lie. No WD mutation, but sequence changes corresponding to c.1216 T>G Single-Nucleotide Polymorphism (SNP) and c.2495 A>G SNP were found. Thereafter, we genotyped 190 AD patients and 164 controls for these SNPs frequencies estimation. Logistic regression analyses revealed either a trend for the c.1216 SNP (P = .074) or a higher frequency for c.2495 SNP of the GG genotype in patients, increasing the probability of AD by 74% (P = .028). Presence of the GG genotype in ATP7B c.2495 could account for copper dysfunction in AD which has been shown to raise the probability of the disease.
authors.affiliation: Department of Neurology, Campus Bio-Medico University of Rome, 00128 Rome, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Bucossi
authors.forename: Stefania
authors.initials: S
authors.lastname: Mariani
authors.forename: Mariacarla
authors.initials: M
authors.lastname: Ventriglia
authors.forename: Renato
authors.initials: R
authors.lastname: Polimanti
authors.forename: Massimo
authors.initials: M
authors.lastname: Gennarelli
authors.forename: Cristian
authors.initials: C
authors.lastname: Bonvicini
authors.forename: Patrizio
authors.initials: P
authors.lastname: Pasqualetti
authors.forename: Federica
authors.initials: F
authors.lastname: Scrascia
authors.forename: Simone
authors.initials: S
authors.lastname: Migliore
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Vernieri
authors.forename: Paolo M
authors.initials: PM
authors.lastname: Rossini
authors.forename: Rosanna
authors.initials: R
authors.lastname: Squitti