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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; [...]

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

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  • Medientyp: E-Artikel
  • Titel: Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy
  • Beteiligte: 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; [...]
  • Erschienen: Springer Science and Business Media LLC, 2015
  • Erschienen in: Nature Communications, 6 (2015) 1
  • Sprache: Englisch
  • DOI: 10.1038/ncomms8247
  • ISSN: 2041-1723
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>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 (<jats:italic>n</jats:italic>=152) and 3,311 controls, and 67 CBD cases and 439 controls in a replication stage. Associations with meta-analysis were 17q21 at <jats:italic>MAPT</jats:italic> (<jats:italic>P</jats:italic>=1.42 × 10<jats:sup>−12</jats:sup>), 8p12 at <jats:italic>lnc-KIF13B-1</jats:italic>, a long non-coding RNA (rs643472; <jats:italic>P</jats:italic>=3.41 × 10<jats:sup>−8</jats:sup>), and 2p22 at <jats:italic>SOS1</jats:italic> (rs963731; <jats:italic>P</jats:italic>=1.76 × 10<jats:sup>−7</jats:sup>). Testing for association of CBD with top progressive supranuclear palsy (PSP) GWAS single-nucleotide polymorphisms (SNPs) identified associations at <jats:italic>MOBP</jats:italic> (3p22; rs1768208; <jats:italic>P</jats:italic>=2.07 × 10<jats:sup>−7</jats:sup>) and <jats:italic>MAPT</jats:italic> H1c (17q21; rs242557; <jats:italic>P</jats:italic>=7.91 × 10<jats:sup>−6</jats:sup>). We previously reported SNP/transcript level associations with rs8070723/<jats:italic>MAPT</jats:italic>, rs242557/<jats:italic>MAPT</jats:italic>, and rs1768208/<jats:italic>MOBP</jats:italic> and herein identified association with rs963731/<jats:italic>SOS1</jats:italic>. We identify new CBD susceptibility loci and show that CBD and PSP share a genetic risk factor other than <jats:italic>MAPT</jats:italic> at 3p22 <jats:italic>MOBP</jats:italic> (myelin-associated oligodendrocyte basic protein).</jats:p>
  • Zugangsstatus: Freier Zugang