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Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy
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. Associa...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Pub. Group
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469997/ https://www.ncbi.nlm.nih.gov/pubmed/26077951 http://dx.doi.org/10.1038/ncomms8247 |
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| author | 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. |
| author_facet | 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. |
| author_sort | Kouri, Naomi |
| collection | PubMed |
| description | 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). |
| format | Online Article Text |
| id | pubmed-4469997 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| publisher | Nature Pub. Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-44699972015-07-13 Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy 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. Nat Commun Article 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). Nature Pub. Group 2015-06-16 /pmc/articles/PMC4469997/ /pubmed/26077951 http://dx.doi.org/10.1038/ncomms8247 Text en Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| spellingShingle | Article 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. Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy |
| title | Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy |
| title_full | Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy |
| title_fullStr | Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy |
| title_full_unstemmed | Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy |
| title_short | Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy |
| title_sort | genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469997/ https://www.ncbi.nlm.nih.gov/pubmed/26077951 http://dx.doi.org/10.1038/ncomms8247 |
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