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Frontotemporal dementia and its subtypes: a genome-wide association study

Title: Frontotemporal dementia and its subtypes: a genome-wide association study
Authors: Ferrari, R; Hernandez, DG; Nalls, MA; Rohrer, JD; Ramasamy, A; Kwok, JBJ; Dobson-Stone, C; Brooks, WS; Schofield, PR; Halliday, GM; Hodges, JR; Piguet, O; Bartley, L; Thompson, E; Haan, E; Hernandez, I; Ruiz, A; Boada, M; Borroni, B; Padovani, A; Cruchaga, C; Cairns, NJ; Benussi, L; Binetti, G; Ghidoni, R; Forloni, G; Galimberti, D; Fenoglio, C; Serpente, M; Scarpini, E; Clarimon, J; Lleo, A; Blesa, R; Waldo, ML; Nilsson, K; Nilsson, C; Mackenzie, IRA; Hsiung, GYR; Mann, DMA; Grafman, J; Morris, CM; Attems, J; Griffiths, TD; McKeith, IG; Thomas, AJ; Pietrini, P; Huey, ED; Wassermann, EM; Baborie, A; Jaros, E; Tierney, MC; Pastor, P; Razquin, C; Ortega-Cubero, S; Alonso, E; Perneczky, R; Diehl-Schmid, J; Alexopoulos, P; Kurz, A; Rainero, I; Rubino, E; Pinessi, L; Rogaeva, E; St George-Hyslop, P; Rossi, G; Tagliavini, F; Giaccone, G; Rowe, JB; Schlachetzki, JCM; Uphill, J; Collinge, J; Mead, S; Danek, A; Van Deerlin, VM; Grossman, M; Trojanowski, JQ; van der Zee, J; Deschamps, W; Van Langenhove, T; Cruts, M; Van Broeckhoven, C; Cappa, SF; Le Ber, I; Hannequin, D; Golfier, V; Vercelletto, M; Brice, A; Nacmias, B; Sorbi, S; Bagnoli, S; Piaceri, I; Nielsen, JE; Hjermind, LE; Riemenschneider, M; Mayhaus, M; Ibach, B; Gasparoni, G; Pichler, S; Gu, W; Rossor, MN; Fox, NC; Warren, JD; Spillantini, MG; Morris, HR; Rizzu, P; Heutink, P; Snowden, JS; Rollinson, S; Richardson, A; Gerhard, A; Bruni, AC; Maletta, R; Frangipane, F; Cupidi, C; Bernardi, L; Anfossi, M; Gallo, M; Conidi, ME; Smirne, N; Rademakers, R; Baker, M; Dickson, DW; Graff-Radford, NR; Petersen, RC; Knopman, D; Josephs, KA; Boeve, BF; Parisi, JE; Seeley, WW; Miller, BL; Karydas, AM; Rosen, H; van Swieten, JC; Dopper, EGP; Seelaar, H; Al Pijnenburg, Y; Scheltens, P; Logroscino, G; Capozzo, R; Novelli, V; Puca, AA; Franceschi, M; Postiglione, A; Milan, G; Sorrentino, P; Kristiansen, M; Chiang, HH; Graff, C; Pasquier, F; Rollin, A; Deramecourt, V; Lebert, F; Kapogiannis, D; Ferrucci, L; Pickering-Brown, S; Singleton, AB; Hardy, J; Momeni, P
Contributors: Klinik und Poliklinik für Psychiatrie und Psychotherapie
Publication Year: 2014
Collection: Munich University of Technology (TUM): mediaTUM
Subject Terms: info:eu-repo/classification/ddc
Description: Background Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72-have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder. Methods We did a two-stage genome-wide association study on clinical FTD, analysing samples from 3526 patients with FTD and 9402 healthy controls. To reduce genetic heterogeneity, all participants were of European ancestry. In the discovery phase (samples from 2154 patients with FTD and 4308 controls), we did separate association analyses for each FTD subtype (behavioural variant FTD, semantic dementia, progressive non-fluent aphasia, and FTD overlapping with motor neuron disease [FTD-MND]), followed by a meta-analysis of the entire dataset. We carried forward replication of the novel suggestive loci in an independent sample series (samples from 1372 patients and 5094 controls) and then did joint phase and brain expression and methylation quantitative trait loci analyses for the associated (p
Document Type: article in journal/newspaper
Language: English
Relation: https://mediatum.ub.tum.de/1251843
Availability: https://mediatum.ub.tum.de/1251843
Rights: info:eu-repo/semantics/restrictedAccess
Accession Number: edsbas.58BF74A4
Database: BASE