Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
AuthorKouri, N; Ross, OA; Dombroski, B; Younkin, CS; Serie, DJ; Soto-Ortolaza, A; Baker, M; Finch, NCA; Yoon, H; Kim, J; ...
Source TitleNature Communications
PublisherSpringer Science and Business Media LLC
University of Melbourne Author/sMcLean, Catriona
AffiliationFlorey Department of Neuroscience and Mental Health
Document TypeJournal Article
CitationsKouri, 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 StatusOpen Access
Open Access at PMChttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469997
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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