Principal Investigators

    Prof. W. van der Flier


    VU medisch centrum

    Contact information of lead PI



    Title of project or programme

    European DNA bank to decipher the Alzheimer disease missing heritability

    Source of funding information


    Total sum awarded (Euro)

    € 619,767

    Start date of award


    Total duration of award in years


    The project/programme is most relevant to:

    Alzheimer's disease & other dementias


    Research Abstract

    Understanding the genetics of Alzheimer’s disease (AD) is one of the best ways of improving our
    knowledge of the underlying pathophysiological processes. Indeed, genetic factors account for up to 80%
    of the attributable risk in common AD forms. It is likely that most of the pathophysiological pathways in AD
    are driven by or include genetic determinants. The advent of genomic approaches (such as genome-wide
    association studies, GWASs) has led to the characterization of 26 genetic determinants. However, less
    than 50% of the AD genetic attributable risk has been characterised; substantial additional efforts are
    thus still required to define the genetic landscape in AD. It will be particularly important to maximize study
    population sizes; studies of other multifactorial diseases have shown that the number of identified
    variants increases with the sample size.
    Our objective is thus to significantly increase the generation of GWAS-based population data via the
    creation of a European Alzheimer’s Disease DNA BioBank (EADB). We shall be able to collate 31,911
    AD cases (of which 24,049 have yet to be genotyped) and 40,802 controls (of which 15,638 have yet to
    be genotyped) from 11 countries. GWASs and complementary statistical studies (based on genotype and
    imputation data) will be performed, in order to capture the missing heritability and identify potential
    disease pathways. This initiative will increase the number of AD samples available for genetic studies in
    Europe by more than 4-fold and worldwide by almost 2-fold. In parallel, the EADB will collect DNA
    samples from Europe’s largest longitudinal cohort of MCI cases, with a view to identifying genetic
    markers that modulate the rate of disease progression and cognitive decline. At present, we have
    compiled approximately 9,109 MCI cases (of which 6,952 have yet to be genotyped) and have data on
    AD conversion, neuropsychological parameters, cerebrospinal fluid biomarkers and neuroimaging for
    most of these samples. We shall investigate the influence of genetic risk factors for AD in a genomewide-
    or hypothesis-based manner. From a translational perspective, the identification of genetic factors
    in pathways that modulate the AD risk and increase the rate of disease progression/cognitive decline in
    MCI will be pivotal for the development and testing of therapeutic approaches.

    Lay Summary

    Further information available at:

Types: Investments > €500k
Member States: Netherlands
Diseases: Alzheimer's disease & other dementias
Years: 2016
Database Categories: N/A
Database Tags: N/A

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