scholarly journals A 22-single nucleotide polymorphism Alzheimer's disease risk score correlates with family history, onset age, and cerebrospinal fluid Aβ42

2015 ◽  
Vol 11 (12) ◽  
pp. 1452-1460 ◽  
Author(s):  
Kristel Sleegers ◽  
Karolien Bettens ◽  
Arne De Roeck ◽  
Caroline Van Cauwenberghe ◽  
Elise Cuyvers ◽  
...  
2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Serena Bucossi ◽  
Stefania Mariani ◽  
Mariacarla Ventriglia ◽  
Renato Polimanti ◽  
Massimo Gennarelli ◽  
...  

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.


2005 ◽  
Vol 5 (4) ◽  
pp. 275-279 ◽  
Author(s):  
Abdulaziz Ali A. Al-Khedhai ◽  
Misbahul Arfin . ◽  
Bassam A. Alahmadi . ◽  
Mohamed A. Al-Jumah .

2017 ◽  
Vol 13 (7S_Part_8) ◽  
pp. P440-P441
Author(s):  
Jin San Lee ◽  
Jeong-Hyeon Shin ◽  
Hanna Cho ◽  
Young Kyoung Jang ◽  
Hee Jin Kim ◽  
...  

2002 ◽  
Vol 333 (1) ◽  
pp. 9-12 ◽  
Author(s):  
Victor Mubumbila ◽  
Anne Sutter ◽  
Ursula Ptok ◽  
Reinhard Heun ◽  
Christiane Quirin-Stricker

2019 ◽  
Vol 2 (12) ◽  
pp. e1918145
Author(s):  
Rong Na ◽  
Craig Labbate ◽  
Hongjie Yu ◽  
Zhuqing Shi ◽  
Richard J. Fantus ◽  
...  

2006 ◽  
Vol 2 ◽  
pp. S177-S177
Author(s):  
Lesley Jones ◽  
Denise Harold ◽  
Stuart MacGregor ◽  
Cathryn E. Patterson ◽  
Paul Hollingworth ◽  
...  

Stroke ◽  
2014 ◽  
Vol 45 (10) ◽  
pp. 2856-2862 ◽  
Author(s):  
Hayato Tada ◽  
Dov Shiffman ◽  
J. Gustav Smith ◽  
Marketa Sjögren ◽  
Steven A. Lubitz ◽  
...  

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