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Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease
Joint Authors
Fabrizio, Vernieri
Bonvicini, Cristian
Rossini, Paolo Maria
Squitti, Rosanna
Bucossi, Serena
Scrascia, Federica
Mariani, Stefania
Migliore, Simone
Ventriglia, Mariacarla
Gennarelli, Massimo
Pasqualetti, Patrizio
Polimanti, Renato
Source
International Journal of Alzheimer's Disease
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-06-15
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Bucossi, Serena& Mariani, Stefania& Ventriglia, Mariacarla& Polimanti, Renato& Gennarelli, Massimo& Bonvicini, Cristian…[et al.]. 2011. Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease. International Journal of Alzheimer's Disease،Vol. 2011, no. 2011, pp.1-9.
https://search.emarefa.net/detail/BIM-512686
Modern Language Association (MLA)
Bucossi, Serena…[et al.]. Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease. International Journal of Alzheimer's Disease No. 2011 (2011), pp.1-9.
https://search.emarefa.net/detail/BIM-512686
American Medical Association (AMA)
Bucossi, Serena& Mariani, Stefania& Ventriglia, Mariacarla& Polimanti, Renato& Gennarelli, Massimo& Bonvicini, Cristian…[et al.]. Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease. International Journal of Alzheimer's Disease. 2011. Vol. 2011, no. 2011, pp.1-9.
https://search.emarefa.net/detail/BIM-512686
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-512686