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    Shared Genetic Contribution to Ischemic Stroke and Alzheimer's Disease

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    Author
    Traylor, M; Adib-Samii, P; Harold, D; Dichgans, M; Williams, J; Lewis, CM; Markus, HS
    Date
    2016-05-01
    Source Title
    Annals of Neurology
    Publisher
    WILEY-BLACKWELL
    University of Melbourne Author/s
    Thijs, Vincent
    Affiliation
    Florey Department of Neuroscience and Mental Health
    Metadata
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    Document Type
    Journal Article
    Citations
    Traylor, M., Adib-Samii, P., Harold, D., Dichgans, M., Williams, J., Lewis, C. M. & Markus, H. S. (2016). Shared Genetic Contribution to Ischemic Stroke and Alzheimer's Disease. ANNALS OF NEUROLOGY, 79 (5), pp.739-747. https://doi.org/10.1002/ana.24621.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/256758
    DOI
    10.1002/ana.24621
    Abstract
    OBJECTIVE: Increasing evidence suggests epidemiological and pathological links between Alzheimer's disease (AD) and Ischaemic Stroke (IS). We investigated the evidence that shared genetic factors underpin the two diseases. METHODS: Using genome wide association study (GWAS) data from METASTROKE+ (15,916 IS cases and 68,826 controls) and IGAP (17,008 AD cases and 37,154 controls), we evaluated known associations with AD and IS. On the subset of data for which we could obtain compatible genotype-level data (4,610 IS cases, 1,281 AD cases and 14,320 controls), we estimated the genome-wide genetic correlation (rG) between AD and IS, and the three subtypes (cardioembolic, small vessel, large vessel), using genome-wide SNP data. We then performed a meta-analysis and pathway analysis in the combined AD and small vessel stroke datasets to identify the SNPs and molecular pathways through which disease risk may be conferred. RESULTS: We found evidence of a shared genetic contribution between AD and small vessel stroke (rG(SE)=0.37(0.17); p=0.011). Conversely, there was no evidence to support shared genetic factors in AD and IS overall, or with the other stroke subtypes. Of the known GWAS associations with IS or AD, none reached significance for association with the other trait (or stroke subtypes). A meta-analysis of AD IGAP and METASTROKE+ small vessel stroke GWAS data highlighted a region (ATP5H/KCTD2/ICT1), associated with both diseases (p=1.8x10-8 ). A pathway analysis identified four associated pathways, involving cholesterol transport and immune response. INTERPRETATION: Our findings indicate shared genetic susceptibility to AD and small vessel stroke and highlight potential causal pathways and loci. This article is protected by copyright. All rights reserved.

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