The association of single nucleotide polymorphism of the Fyn gene with sporadic Alzheimer's disease in the Chinese Han population

2014 ◽  
Vol 575 ◽  
pp. 80-84 ◽  
Author(s):  
Jing Li ◽  
Hua-Dong Zhou ◽  
Juan Deng ◽  
Jie Zhu ◽  
Lin Li ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphism ◽  
Chinese Han Population ◽  
Nucleotide Polymorphism ◽  
Chinese Han ◽  
Sporadic Alzheimer’S Disease ◽  
Single Nucleotide ◽  
Han Population

scholarly journals Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Serena Bucossi ◽  
Stefania Mariani ◽  
Mariacarla Ventriglia ◽  
Renato Polimanti ◽  
Massimo Gennarelli ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphism ◽  
Logistic Regression ◽  
Atp7b Gene ◽  
Regression Analyses ◽  
Susceptibility Loci ◽  
Nucleotide Polymorphism ◽  
Sporadic Alzheimer’S Disease ◽  
Single Nucleotide

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.

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