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

Nat Commun. 2015 Jun 16:6:7247. doi: 10.1038/ncomms8247.


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).

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Basal Ganglia Diseases / genetics*
  • Case-Control Studies
  • Cerebral Cortex
  • Female
  • Genome-Wide Association Study
  • Humans
  • Kinesins / genetics*
  • Male
  • Middle Aged
  • Myelin Proteins / genetics*
  • Neurodegenerative Diseases / genetics*
  • Polymorphism, Single Nucleotide
  • RNA, Long Noncoding / genetics*
  • SOS1 Protein / genetics*
  • Supranuclear Palsy, Progressive / genetics*
  • Young Adult
  • tau Proteins / genetics*


  • MAPT protein, human
  • MOBP protein, human
  • Myelin Proteins
  • RNA, Long Noncoding
  • SOS1 Protein
  • tau Proteins
  • KIF13B protein, human
  • Kinesins