TY - JOUR
T1 - Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease
AU - Bucossi, Serena
AU - Mariani, Stefania
AU - Mariani, Stefano
AU - Ventriglia, Mariacarla
AU - Polimanti, Renato
AU - Gennarelli, Massimo
AU - Bonvicini, Cristian
AU - Pasqualetti, Patrizio
AU - Scrascia, Federica
AU - Migliore, Simone
AU - Vernieri, Fabrizio
AU - Rossini, Paolo M.
AU - Rossini, Paolo Maria
AU - Squitti, Rosanna
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
KW - .
KW - .
UR - http://hdl.handle.net/10807/10873
U2 - 10.4061/2011/973692
DO - 10.4061/2011/973692
M3 - Article
SN - 2090-0252
VL - 2011
SP - 973692
EP - 973692
JO - International Journal of Alzheimer's Disease
JF - International Journal of Alzheimer's Disease
ER -