Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Hoglinger, GU; Melhem, NM; Dickson, DW; Sleiman, PM; Wang, LS; Klei, L; Rademakers, R; de Silva, R; Litvan, I; Riley, DE; van Swieten, JC; Heutink, P; Wszolek, ZK; Uitti, RJ; Vandrovcova, J; Hurtig, HI; Gross, RG; Maetzler, W; Goldwurm, S; Tolosa, E; Borroni, B; Pastor, P; Cantwell, LB; Han, MR; Dillman, A; van der Brug, MP; Gibbs, JR; Cookson, MR; Hernandez, DG; Singleton, AB; Farrer, MJ; Yu, CE; Golbe, LI; Revesz, T; Hardy, J; Lees, AJ; Devlin, B; Hakonarson, H; Müller, U; Schellenberg, GD

doi:10.1038/ng.859

2011

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Titel:: Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Dokumenttyp:: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Article
Autor(en):: Hoglinger, GU; Melhem, NM; Dickson, DW; Sleiman, PM; Wang, LS; Klei, L; Rademakers, R; de Silva, R; Litvan, I; Riley, DE; van Swieten, JC; Heutink, P; Wszolek, ZK; Uitti, RJ; Vandrovcova, J; Hurtig, HI; Gross, RG; Maetzler, W; Goldwurm, S; Tolosa, E; Borroni, B; Pastor, P; Cantwell, LB; Han, MR; Dillman, A; van der Brug, MP; Gibbs, JR; Cookson, MR; Hernandez, DG; Singleton, AB; Farrer, MJ; Yu, CE; Golbe, LI; Revesz, T; Hardy, J; Lees, AJ; Devlin, B; Hakonarson, H; Müller, U; Schellenberg, GD
Abstract:: Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P <= 10(-3). We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component.
Zeitschriftentitel:: Nat Genet
Jahr:: 2011
Band / Volume:: 43
Heft / Issue:: 7
Seitenangaben Beitrag:: 699-705
Sprache:: eng
Volltext / DOI:: doi:10.1038/ng.859
PubMed:: http://view.ncbi.nlm.nih.gov/pubmed/21685912
Print-ISSN:: 1061-4036
TUM Einrichtung:: Neurologische Klinik und Poliklinik
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mediaTUM Gesamtbestand Einrichtungen Schools TUM School of Medicine and Health Departments Clinical Medicine Klinik und Poliklinik für Neurologie (Prof. Hemmer)2011