期刊
NATURE COMMUNICATIONS
卷 6, 期 -, 页码 -出版社
NATURE PORTFOLIO
DOI: 10.1038/ncomms8247
关键词
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资金
- Karin AMP
- Sten Mortstedt CBD Solutions AB
- NIH [P50 NS072187, R01 NS078086, P50 AG016574, R01 AG037491, P01 AG017586, P30 AG10124, P01 AG17586, P50 NS53488, P30 AG10133, P30 AG012300]
- State of Florida Alzheimer's Disease Initiative
- Foundation for PSP\CBD and Related Brain Diseases
- Peebler PSP Research Foundation
- GHR Foundation
- Deutsche Forschungsgemeinschaft (DFG) [HO2402/6-2]
- Bundesministerium fur Bildung und Forschung (BMBF: EpiPD)
- CBD Solutions
- Rainwater Charitable Foundation
- American Parkinson's Disease Association
- MJFF
- Mayo Clinic Center for Regenerative Medicine, Neuroscience Focused Research Team programme
- [R01 AG032990]
- [R01 NS080820]
- [P50 AG0016574]
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 x 10(-12)), 8p12 at lnc-KIF13B-1, a long non-coding RNA (rs643472; P = 3.41 x 10(-8)), and 2p22 at SOS1 (rs963731; P = 1.76 x 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 x 10(-7)) and MAPT H1c (17q21; rs242557; P = 7.91 x 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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