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  • Florey Department of Neuroscience and Mental Health
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    Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.

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    Author
    Kouri, N; Ross, OA; Dombroski, B; Younkin, CS; Serie, DJ; Soto-Ortolaza, A; Baker, M; Finch, NCA; Yoon, H; Kim, J; ...
    Date
    2015-06-16
    Source Title
    Nature Communications
    Publisher
    Springer Science and Business Media LLC
    University of Melbourne Author/s
    McLean, Catriona
    Affiliation
    Florey Department of Neuroscience and Mental Health
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Kouri, N., Ross, O. A., Dombroski, B., Younkin, C. S., Serie, D. J., Soto-Ortolaza, A., Baker, M., Finch, N. C. A., Yoon, H., Kim, J., Fujioka, S., McLean, C. A., Ghetti, B., Spina, S., Cantwell, L. B., Farlow, M. R., Grafman, J., Huey, E. D., Ryung Han, M. ,... Dickson, D. W. (2015). Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.. Nat Commun, 6 (1), pp.7247-. https://doi.org/10.1038/ncomms8247.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/260448
    DOI
    10.1038/ncomms8247
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469997
    Abstract
    Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n=152) and 3,311 controls, and 67 CBD cases and 439 controls in a replication stage. Associations with meta-analysis were 17q21 at MAPT (P=1.42 × 10(-12)), 8p12 at lnc-KIF13B-1, a long non-coding RNA (rs643472; P=3.41 × 10(-8)), and 2p22 at SOS1 (rs963731; P=1.76 × 10(-7)). Testing for association of CBD with top progressive supranuclear palsy (PSP) GWAS single-nucleotide polymorphisms (SNPs) identified associations at MOBP (3p22; rs1768208; P=2.07 × 10(-7)) and MAPT H1c (17q21; rs242557; P=7.91 × 10(-6)). We previously reported SNP/transcript level associations with rs8070723/MAPT, rs242557/MAPT, and rs1768208/MOBP and herein identified association with rs963731/SOS1. We identify new CBD susceptibility loci and show that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein).

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