Association study of the Ubiquilin gene with Alzheimer's disease

Faiza Bensemain, Julien Chapuis, Jinzhou Tian, Jing Shi, Uma Thaker, Corinne Lendon, Takeshi Iwatsubo, Philippe Amouyel, David Mann, Jean Charles Lambert

    Research output: Contribution to journalArticlepeer-review

    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 Aβ load or degree of neurofibrillary degeneration in the brains of 114 patients with AD was detected. © 2006 Elsevier Inc. All rights reserved.
    Original languageEnglish
    Pages (from-to)691-693
    Number of pages2
    JournalNeurobiology of disease
    Volume22
    Issue number3
    DOIs
    Publication statusPublished - Jun 2006

    Keywords

    • Alzheimer
    • Genetic determinant
    • Polymorphism
    • Splicing
    • Ubiquilin

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