Journal article

Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.

Naomi Kouri, Owen A Ross, Beth Dombroski, Curtis S Younkin, Daniel J Serie, Alexandra Soto-Ortolaza, Matthew Baker, Ni Cole A Finch, Hyejin Yoon, Jungsu Kim, Shinsuke Fujioka, Catriona A McLean, Bernardino Ghetti, Salvatore Spina, Laura B Cantwell, Martin R Farlow, Jordan Grafman, Edward D Huey, Mi Ryung Han, Sherry Beecher Show all

Nature Communications | Published : 2015


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..

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