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

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

Nature communications (2015-06-17)

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, Evan T Geller, Hans A Kretzschmar, Sigrun Roeber, Marla Gearing, Jorge L Juncos, Jean Paul G Vonsattel, Vivianna M Van Deerlin, Murray Grossman, Howard I Hurtig, Rachel G Gross, Steven E Arnold, John Q Trojanowski, Virginia M Lee, Gregor K Wenning, Charles L White, Günter U Höglinger, Ulrich Müller, Bernie Devlin, Lawrence I Golbe, Julia Crook, Joseph E Parisi, Bradley F Boeve, Keith A Josephs, Zbigniew K Wszolek, Ryan J Uitti, Neill R Graff-Radford, Irene Litvan, Steven G Younkin, Li-San Wang, Nilüfer Ertekin-Taner, Rosa Rademakers, Hakon Hakonarsen, Gerard D Schellenberg, Dennis W Dickson

PMID26077951

摘要

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).

材料

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品牌

产品描述

P4557

Sigma-Aldrich

苯酚溶液, BioReagent, Equilibrated with 10 mM Tris HCl, pH 8.0, 1 mM EDTA, Molecular Biology

16016

Sigma-Aldrich

苯酚, puriss., ≥99.5% (GC), meets analytical specification of Ph. Eur., BP, USP, crystalline (detached)

288306

Sigma-Aldrich