DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Corticobasal degeneration. The EFO term Corticobasal degeneration was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: Corticobasal degeneration

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

N Kouri, OA Ross, B Dombroski, CS Younkin, DJ Serie, A Soto-Ortolaza, M Baker, NC Finch, H Yoon, J Kim, S Fujioka, CA McLean, B Ghetti, S Spina, LB Cantwell, MR Farlow, J Grafman, ED Huey, M Ryung Han, S Beecher, ET Geller, HA Kretzschmar, S Roeber, M Gearing, JL Juncos, JP Vonsattel, VM Van Deerlin, M Grossman, HI Hurtig, RG Gross, SE Arnold, JQ Trojanowski, VM Lee, GK Wenning, CL White, GU Höglinger, U Müller, B Devlin, LI Golbe, J Crook, JE Parisi, BF Boeve, KA Josephs, ZK Wszolek, RJ Uitti, NR Graff-Radford, I Litvan, SG Younkin, LS Wang, N Ertekin-Taner, R Rademakers, H Hakonarsen, GD Schellenberg, DW Dickson

TITLE:

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

JOURNAL:

Nature communications Jun 2015, Vol 6, pp. 7247

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). PUBMED: 26077951
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