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

  • Author(s): Kouri, Naomi;
  • Ross, Owen A;
  • Dombroski, Beth;
  • Younkin, Curtis S;
  • Serie, Daniel J;
  • Soto-Ortolaza, Alexandra;
  • Baker, Matthew;
  • Finch, Ni Cole A;
  • Yoon, Hyejin;
  • Kim, Jungsu;
  • Fujioka, Shinsuke;
  • McLean, Catriona A;
  • Ghetti, Bernardino;
  • Spina, Salvatore;
  • Cantwell, Laura B;
  • Farlow, Martin R;
  • Grafman, Jordan;
  • Huey, Edward D;
  • Ryung Han, Mi;
  • Beecher, Sherry;
  • Geller, Evan T;
  • Kretzschmar, Hans A;
  • Roeber, Sigrun;
  • Gearing, Marla;
  • Juncos, Jorge L;
  • Vonsattel, Jean Paul G;
  • Van Deerlin, Vivianna M;
  • Grossman, Murray;
  • Hurtig, Howard I;
  • Gross, Rachel G;
  • Arnold, Steven E;
  • Trojanowski, John Q;
  • Lee, Virginia M;
  • Wenning, Gregor K;
  • White, Charles L;
  • Höglinger, Günter U;
  • Müller, Ulrich;
  • Devlin, Bernie;
  • Golbe, Lawrence I;
  • Crook, Julia;
  • Parisi, Joseph E;
  • Boeve, Bradley F;
  • Josephs, Keith A;
  • Wszolek, Zbigniew K;
  • Uitti, Ryan J;
  • Graff-Radford, Neill R;
  • Litvan, Irene;
  • Younkin, Steven G;
  • Wang, Li-San;
  • Ertekin-Taner, Nilüfer;
  • Rademakers, Rosa;
  • Hakonarsen, Hakon;
  • Schellenberg, Gerard D;
  • Dickson, Dennis W
  • et al.
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).

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