Volume 13, Issue 7, Pages 686-699 (July 2014) Frontotemporal dementia and its subtypes: a genome-wide association study  Raffaele Ferrari, PhD, Dena G Hernandez, MSc, Michael A Nalls, PhD, Jonathan D Rohrer, PhD, Adaikalavan Ramasamy, PhD, John B J Kwok, PhD, Carol Dobson-Stone, PhD, William S Brooks, MBBS, Prof Peter R Schofield, DSc, Prof Glenda M Halliday, PhD, Prof John R Hodges, MD, Olivier Piguet, PhD, Lauren Bartley, MSc, Elizabeth Thompson, MD, Prof Eric Haan, MBBS, Isabel Hernández, MD, Agustín Ruiz, MD, Mercè Boada, MD, Barbara Borroni, MD, Prof Alessandro Padovani, MD, Carlos Cruchaga, PhD, Prof Nigel J Cairns, PhD, Luisa Benussi, PhD, Giuliano Binetti, MD, Roberta Ghidoni, PhD, Gianluigi Forloni, PhD, Daniela Galimberti, PhD, Chiara Fenoglio, PhD, Maria Serpente, PhD, Elio Scarpini, MD, Jordi Clarimón, PhD, Alberto Lleó, MD, Rafael Blesa, MD, Maria Landqvist Waldö, MD, Karin Nilsson, PhD, Christer Nilsson, PhD, Prof Ian R A Mackenzie, MD, Ging-Yuek R Hsiung, MD, Prof David M A Mann, PhD, Prof Jordan Grafman, PhD, Christopher M Morris, PhD, Prof Johannes Attems, MD, Prof Timothy D Griffiths, FMedSci, Prof Ian G McKeith, MD, Prof Alan J Thomas, PhD, Prof P Pietrini, MD, Edward D Huey, MD, Eric M Wassermann, MD, Atik Baborie, MD, Evelyn Jaros, PhD, Michael C Tierney, MSc, Pau Pastor, MD, Cristina Razquin, PhD, Sara Ortega-Cubero, MD, Elena Alonso, BSc, Robert Perneczky, MD, Janine Diehl-Schmid, MD, Panagiotis Alexopoulos, MD, Alexander Kurz, MD, Innocenzo Rainero, MD, Elisa Rubino, MD, Prof Lorenzo Pinessi, MD, Ekaterina Rogaeva, PhD, Peter St George-Hyslop, MD, Giacomina Rossi, PhD, Fabrizio Tagliavini, MD, Giorgio Giaccone, MD, James B Rowe, PhD, Johannes C M Schlachetzki, MD, James Uphill, BSc, Prof John Collinge, MD, Prof Simon Mead, PhD, Adrian Danek, MD, Vivianna M Van Deerlin, PhD, Prof Murray Grossman, MD, Prof John Q Trojanowski, PhD, Julie van der Zee, PhD, William Deschamps, MSc, Tim Van Langenhove, MD, Marc Cruts, PhD, Prof Christine Van Broeckhoven, PhD, Prof Stefano F Cappa, MD, Isabelle Le Ber, MD, Prof Didier Hannequin, MD, Véronique Golfier, MD, Martine Vercelletto, MD, Alexis Brice, MD, Benedetta Nacmias, PhD, Prof Sandro Sorbi, PhD, Silvia Bagnoli, PhD, Irene Piaceri, PhD, Jørgen E Nielsen, MD, Lena E Hjermind, MD, Prof Matthias Riemenschneider, MD, Manuel Mayhaus, PhD, Bernd Ibach, PhD, Gilles Gasparoni, PhD, Sabrina Pichler, MSc, Wei Gu, PhD, Prof Martin N Rossor, MD, Prof Nick C Fox, MD, Jason D Warren, PhD, Prof Maria Grazia Spillantini, PhD, Prof Huw R Morris, PhD, Patrizia Rizzu, PhD, Prof Peter Heutink, PhD, Prof Julie S Snowden, PhD, Sara Rollinson, PhD, Anna Richardson, MB, Alexander Gerhard, MD, Amalia C Bruni, MD, Raffaele Maletta, MD, Francesca Frangipane, MD, Chiara Cupidi, MD, Livia Bernardi, PhD, Maria Anfossi, PhD, Maura Gallo, PhD, Maria Elena Conidi, PhD, Nicoletta Smirne, BSc, Prof Rosa Rademakers, PhD, Matt Baker, BSc, Prof Dennis W Dickson, MD, Prof Neill R Graff-Radford, MD, Prof Ronald C Petersen, MD, Prof David Knopman, MD, Prof Keith A Josephs, MD, Prof Bradley F Boeve, MD, Prof Joseph E Parisi, MD, William W Seeley, MD, Prof Bruce L Miller, MD, Anna M Karydas, BA, Prof Howard Rosen, MD, Prof John C van Swieten, MD, Elise G P Dopper, MD, Harro Seelaar, PhD, Yolande A L Pijnenburg, MD, Prof Philip Scheltens, MD, Giancarlo Logroscino, MD, Rosa Capozzo, MD, Valeria Novelli, PhD, Annibale A Puca, MD, Massimo Franceschi, MD, Prof Alfredo Postiglione, MD, Graziella Milan, MD, Paolo Sorrentino, MD, Mark Kristiansen, PhD, Huei-Hsin Chiang, PhD, Prof Caroline Graff, MD, Prof Florence Pasquier, MD, Adeline Rollin, MD, Vincent Deramecourt, MD, Florence Lebert, MD, Dimitrios Kapogiannis, MD, Luigi Ferrucci, MD, Prof Stuart Pickering-Brown, PhD, Andrew B Singleton, PhD, Prof John Hardy, PhD, Parastoo Momeni, PhD  The Lancet Neurology  Volume 13, Issue 7, Pages 686-699 (July 2014) DOI: 10.1016/S1474-4422(14)70065-1 Copyright © 2014 Elsevier Ltd Terms and Conditions

Figure 1 Manhattan plots identifying regions with genome-wide significant associations (A) Single–nucleotide polymorphisms (SNPs) with genome-wide significant p values (p<5×10−8) are depicted as red dots and locate to 6p21.3. The associated SNPs map to intron 5 of BTNL2 and to the intergenic region between HLA-DRA and HLA-DRB. (B) Manhattan plot for the behavioural variant frontotemporal dementia subtype in the discovery phase. SNPs with genome-wide significant p values (p<5×10−8) are depicted as red dots and locate to 11q14. The associated SNPs map to intron 1 of RAB38 and to the intergenic region between RAB38 and CTSC. The Lancet Neurology 2014 13, 686-699DOI: (10.1016/S1474-4422(14)70065-1) Copyright © 2014 Elsevier Ltd Terms and Conditions

Figure 2 Manhattan plots identifying regions with suggestive associations Manhattan plots for semantic dementia (A), progressive nonfluent aphasia (B), and frontotemporal dementia with motor neuron disease (C). The Lancet Neurology 2014 13, 686-699DOI: (10.1016/S1474-4422(14)70065-1) Copyright © 2014 Elsevier Ltd Terms and Conditions