title: Association study of the Ubiquilin gene with Alzheimer's disease.
abstract: 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.
authors.affiliation: INSERM U744, Institut Pasteur de Lille, Université de Lille 2, Lille, BP 245, 5019 Lille Cédex, France.
authors.forename: Faiza
authors.initials: F
authors.lastname: Bensemain
authors.forename: Julien
authors.initials: J
authors.lastname: Chapuis
authors.forename: Jinzhou
authors.initials: J
authors.lastname: Tian
authors.forename: Jing
authors.initials: J
authors.lastname: Shi
authors.forename: Uma
authors.initials: U
authors.lastname: Thaker
authors.forename: Corinne
authors.initials: C
authors.lastname: Lendon
authors.forename: Takeshi
authors.initials: T
authors.lastname: Iwatsubo
authors.forename: Philippe
authors.initials: P
authors.lastname: Amouyel
authors.forename: David
authors.initials: D
authors.lastname: Mann
authors.forename: Jean-Charles
authors.initials: JC
authors.lastname: Lambert
mesh_terms: 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
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D016229:Amyloid beta-Peptides; D000071183:Autophagy-Related Proteins; D002352:Carrier Proteins; D018797:Cell Cycle Proteins; C107792:UBQLN1 protein, human