Published in
Nature Research, Nature Communications, 1(6), 2015
DOI: 10.1038/ncomms8247
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- Nature Research | PDF
- [epub.ub.uni-muenchen.de] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [mediatum.ub.tum.de] | PDF
- [europepmc.org] | PDF
- [scholarworks.iupui.edu] | PDF
- [www.researchgate.net] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
- [www.ncbi.nlm.nih.gov] | PDF
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Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy
,
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
and other authors.
Full text: Download
Abstract
AbstractCorticobasal 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).