Association study of the Ubiquilin gene with Alzheimer's disease.
Recently, the ubiquilin 1 gene has been proposed as a major candidate gene for AD. Here, we have investigated the potential impact of the UBQ-8i polymorphism (rs12344615) within this gene on the risk of developing AD. No association of this polymorphism with the disease was observed in a large French case-control population. Furthermore, no relationship between this polymorphism and Abeta load or degree of neurofibrillary degeneration in the brains of 114 patients with AD was detected.
Bensemain
Faiza
F
INSERM U744, Institut Pasteur de Lille, Université de Lille 2, Lille, BP 245, 5019 Lille Cédex, France.
Chapuis
Julien
J
Tian
Jinzhou
J
Shi
Jing
J
Thaker
Uma
U
Lendon
Corinne
C
Iwatsubo
Takeshi
T
Amouyel
Philippe
P
Mann
David
D
Lambert
Jean-Charles
JC
D048868:Adaptor Proteins, Signal Transducing; D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics* / Q000473:pathology*; D016229:Amyloid beta-Peptides / Q000378:metabolism; D000071183:Autophagy-Related Proteins; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics*; D016022:Case-Control Studies; D018797:Cell Cycle Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009410:Nerve Degeneration / Q000378:metabolism / Q000473:pathology; D016874:Neurofibrillary Tangles / Q000378:metabolism / Q000473:pathology; D011110:Polymorphism, Genetic
D048868:Adaptor Proteins, Signal Transducing; D016229:Amyloid beta-Peptides; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins; D018797:Cell Cycle Proteins; C107792:UBQLN1 protein, human