作者
Naomi Kouri, Owen A Ross, Beth Dombroski, Curtis S Younkin, 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
发表日期
2015/6/16
期刊
Nature communications
卷号
6
期号
1
页码范围
1-7
出版商
Nature Publishing Group
简介
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 …
学术搜索中的文章
N Kouri, OA Ross, B Dombroski, CS Younkin… - Nature communications, 2015