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

Nature Communications

Volumn 6, Issue , 2015, Pages

  Kouri, Naomi ^a   Ross, Owen A ^a   Dombroski, Beth ^b   Younkin, Curtis S ^a   Serie, Daniel J ^a   Soto Ortolaza, Alexandra ^a   Baker, Matthew ^a   Finch, Ni Cole A ^a   Yoon, Hyejin ^a   Kim, Jungsu ^a   Fujioka, Shinsuke ^a   Mclean, Catriona A ^c   Ghetti, Bernardino ^d   Spina, Salvatore ^d   Cantwell, Laura B ^b   Farlow, Martin R ^d   Grafman, Jordan ^e,f   Huey, Edward D ^g   Ryung Han, Mi ^b   Beecher, Sherry ^b   Geller, Evan T ^b   Kretzschmar, Hans A ^h   Roeber, Sigrun ^h   Gearing, Marla ⁱ   Juncos, Jorge L ⁱ   Vonsattel, Jean Paul G ^g   Van Deerlin, Vivianna M ^b   Grossman, Murray ^j   Hurtig, Howard I ^j   Gross, Rachel G ^j   Arnold, Steven E ^k   Trojanowski, John Q ^b   Lee, Virginia M ^b   Wenning, Gregor K ^l   White, Charles L ^m   Höglinger, Günter U ^n,o,p   Müller, Ulrich ^q   Devlin, Bernie ^r   Golbe, Lawrence I ^s   Crook, Julia ^a   Parisi, Joseph E ^t   Boeve, Bradley F ^t   Josephs, Keith A ^t   Wszolek, Zbigniew K ^t   Uitti, Ryan J ^t   Graff Radford, Neill R ^t   Litvan, Irene ^u   Younkin, Steven G ^a   Wang, Li San ^b   Ertekin Taner, Nilüfer ^a,t   Rademakers, Rosa ^a   Hakonarsen, Hakon ^v   Schellenberg, Gerard D ^b   Dickson, Dennis W ^a   more..

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^d INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e REHABILITATION INSTITUTE OF CHICAGO   (United States)

^f NORTHWESTERN UNIVERSITY   (United States)

^g Och Spine at New York Presbyterian Hospitals   (United States)

^h UNIVERSITY OF MUNICH   (Germany)

ⁱ EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF PENNSYLVANIA   (United States)

^k UNIVERSITY OF PENNSYLVANIA   (United States)

^l INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^m UNIVERSITY OF TEXAS AT DALLAS   (United States)

ⁿ TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^o GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^p PHILIPPS UNIVERSITY MARBURG   (Germany)

^q JUSTUS LIEBIG UNIVERSITY   (Germany)

^r UNIVERSITY OF PITTSBURGH   (United States)

^s ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^t MAYO CLINIC   (United States)

^u UNIVERSITY OF CALIFORNIA   (United States)

^v CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

UNTRANSLATED RNA; KIF13B PROTEIN, HUMAN; KINESIN; LONG UNTRANSLATED RNA; MAPT PROTEIN, HUMAN; MOBP PROTEIN, HUMAN; MYELIN PROTEIN; SOS PROTEIN; TAU PROTEIN;

BRAIN; GENETIC ANALYSIS; GENOME; META-ANALYSIS; NERVOUS SYSTEM DISORDER; PROTEIN;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; CORTICOBASAL DEGENERATION; FEMALE; GENE EXPRESSION; GENE LOCUS; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PROGRESSIVE SUPRANUCLEAR PALSY; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; BRAIN CORTEX; CASE CONTROL STUDY; DEGENERATIVE DISEASE; EXTRAPYRAMIDAL SYNDROME; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MIDDLE AGED; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; BASAL GANGLIA DISEASES; CASE-CONTROL STUDIES; CEREBRAL CORTEX; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; KINESIN; MALE; MIDDLE AGED; MYELIN PROTEINS; NEURODEGENERATIVE DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, LONG NONCODING; SOS1 PROTEIN; SUPRANUCLEAR PALSY, PROGRESSIVE; TAU PROTEINS; YOUNG ADULT;

EID: 84935832302     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms8247     Document Type: Article

References (37)

1. Dickson, D. W. et al. Office of rare diseases neuropathologic criteria for corticobasal degeneration. J. Neuropathol. Exp. Neurol. 61, 935-946 (2002
2. Rebeiz, J. J., Kolodny, E. H. & Richardson, Jr. E. P. Corticodentatonigral degeneration with neuronal achromasia. Arch. Neurol. 18, 20-33 (1968
3. Armstrong, M. J. et al. Criteria for the diagnosis of corticobasal degeneration. Neurology 80, 496-503 (2013
4. Kouri, N. et al. Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome. Brain 134, 3264-3275 (2011
5. Kouri, N., Whitwell, J. L., Josephs, K. A., Rademakers, R. & Dickson, D. W. Corticobasal degeneration: a pathologically distinct 4R tauopathy. Nat. Rev. Neurol. 7, 263-272 (2011
6. Ling, H. et al. Does corticobasal degeneration exist?. A clinicopathological reevaluation. Brain 133, 2045-2057 (2010
7. Boeve, B. F. et al. Pathologic heterogeneity in clinically diagnosed corticobasal degeneration. Neurology 53, 795-800 (1999
8. Fujioka, S. et al. A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study. Parkinsonism Relat. Disord. 20, 1129-1134 (2014
9. Fujioka, S. et al. Three sib-pairs of autopsy-confirmed progressive supranuclear palsy. Parkinsonism Relat. Disord. (2014
10. Kouri, N. et al. Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration. Acta Neuropathol. 127, 271-282 (2014
11. Baker, M. et al. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum. Mol. Genet. 8, 711-715 (1999
12. Ezquerra, M. et al. Identification of a novel polymorphism in the promoter region of the tau gene highly associated to progressive supranuclear palsy in humans. Neurosci. Lett. 275, 183-186 (1999
13. Higgins, J. J. et al. An extended 5'-tau susceptibility haplotype in progressive supranuclear palsy. Neurology 55, 1364-1367 (2000
14. Hoenicka, J. et al. The tau gene A0 allele and progressive supranuclear palsy. Neurology 53, 1219-1225 (1999
15. Di Maria, E. et al. Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann. Neurol. 47, 374-377 (2000
16. Houlden, H. et al. Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype. Neurology 56, 1702-1706 (2001
17. Hoglinger, G. U. et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat. Genet. 43, 699-705 (2011
18. Josephs, K. A. & Dickson, D. W. Diagnostic accuracy of progressive supranuclear palsy in the Society for Progressive Supranuclear Palsy brain bank. Mov. Disord. 18, 1018-1026 (2003
19. Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007
20. Abecasis, G. R. et al. An integrated map of genetic variation from 1, 092 human genomes. Nature 491, 56-65 (2012
21. Delaneau, O., Howie, B., Cox, A. J., Zagury, J. F. & Marchini, J. Haplotype estimation using sequencing reads. Am. J. Hum. Genet. 93, 687-696 (2013
22. Howie, B., Marchini, J. & Stephens, M. Genotype imputation with thousands of genomes. G3 (Bethesda) 1, 457-470 (2011
23. Ernst, J. et al. Mapping and analysis of chromatin state dynamics in nine human cell types. Nature 473, 43-49 (2011
24. Ward, L. D. & Kellis, M. HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res. 40, D930-D934 (2012
25. Zou, F. et al. Brain expression genome-wide association study (eGWAS) identifies human disease-Associated variants. PLoS Genet. 8, e1002707 (2012
26. Rademakers, R. et al. High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum. Mol. Genet. 14, 3281-3292 (2005
27. Yamamoto, Y. et al. Cloning and expression of myelin-Associated oligodendrocytic basic protein. A novel basic protein constituting the central nervous system myelin. J. Biol. Chem. 269, 31725-31730 (1994
28. Hanada, T., Lin, L., Tibaldi, E. V., Reinherz, E. L. & Chishti, A. H. GAKIN, a novel kinesin-like protein associates with the human homologue of the Drosophila discs large tumor suppressor in T lymphocytes. J. Biol. Chem. 275, 28774-28784 (2000
29. Horiguchi, K., Hanada, T., Fukui, Y. & Chishti, A. H. Transport of PIP3 by GAKIN, a kinesin-3 family protein, regulates neuronal cell polarity. J. Cell Biol. 174, 425-436 (2006
30. Kanai, Y., Wang, D. & Hirokawa, N. KIF13B enhances the endocytosis of LRP1 by recruiting LRP1 to caveolae. J. Cell Biol. 204, 395-408 (2014
31. Misra-Press, A., Rim, C. S., Yao, H., Roberson, M. S. & Stork, P. J. A novel mitogen-Activated protein kinase phosphatase. Structure, expression, and regulation. J. Biol. Chem. 270, 14587-14596 (1995
32. Forman, M. S. et al. Signature tau neuropathology in gray and white matter of corticobasal degeneration. Am. J. Pathol. 160, 2045-2053 (2002
33. Gong, C. X., Singh, T. J., Grundke-Iqbal, I. & Iqbal, K. Phosphoprotein phosphatase activities in Alzheimer disease brain. J. Neurochem. 61, 921-927 (1993
34. Margarit, S. M. et al. Structural evidence for feedback activation by Ras.GTP of the Ras-specific nucleotide exchange factor SOS. Cell 112, 685-695 (2003
35. Togasaki, D. M. & Tanner, C. M. in Corticobasal Degeneration. (eds Litvan, I., Goetz, C. G. & Lang, A. E.) 53-59 (Lippincott, Williams & Wilkins, 2000
36. Browning, B. L. & Browning, S. R. A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am. J. Hum. Genet. 84, 210-223 (2009
37. Pruim, R. J. et al. LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26, 2336-2337 (2010