Repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

Unraveling the biological mechanisms in Alzheimer's disease--lessons from genomics

Borovečki, Fran and Klepac, Nataša and Muck-Šeler, Dorotea and Hajnšek, Sanja and Mubrin, Zdenko and Pivac, Nela (2011) Unraveling the biological mechanisms in Alzheimer's disease--lessons from genomics. Progress in Neuro-Psychopharmacology & Biological Psychiatry, 35 (2). pp. 340-7. ISSN 0278-5846

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    English abstract

    Alzheimer's disease (AD) is the most common form of dementia and the most common neurodegenerative disease, with a complex genetic background. Genome-wide association studies (GWAS) have yielded important new insights into genetic mechanisms of AD pathology. Current results unequivocally confirm apolipoprotein E (APOE) as a major genetic risk factor for development of late onset AD. Additional associations of more than twenty genes have also been identified and replicated in subsequent genetic studies. Despite the exciting new GWAS data which have emerged in the last few years, it has become clear that common variants within the genome cannot fully explain the underlying genetic risk for AD. Novel approaches such as genome-wide analysis of copy number variations (CNV) or low-frequency rare functional gene variants may provide additional insight into genetic basis of AD. In this review we summarize the findings of eighteen GWAS studies in AD performed to date, with an emphasis on potential future developments in the quest for genetic risk factors of AD.

    Item Type: Article
    MeSH: Alzheimer Disease/genetics ; Alzheimer Disease/physiopathology ; Dementia/genetics ; Gene Dosage ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genomics ; Humans ; Polymorphism, Single Nucleotide
    Divisions: Katedra za neurologiju
    Depositing User: Marijan Šember
    Status: Published
    Borovečki, Fran
    Klepac, Nataša
    Muck-Šeler, Dorotea
    Hajnšek, Sanja
    Mubrin, Zdenko
    Pivac, Nela
    Date: 30 March 2011
    Date Deposited: 25 Feb 2011
    Last Modified: 13 Jan 2012 11:14
    Subjects: /
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