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

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

doi:10.1016/S1474-4422(14)70065-1

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

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

Division of Neuroscience

Research output: Contribution to journal › Article › peer-review

Abstract

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

Original language	English
Pages (from-to)	686-699
Number of pages	13
Journal	The Lancet. Neurology
Volume	13
Issue number	7
DOIs	https://doi.org/10.1016/S1474-4422(14)70065-1
Publication status	Published - Jul 2014

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/S1474-4422(14)70065-1

Cite this

Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks, W. S., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., ... Momeni, P. (2014). Frontotemporal dementia and its subtypes: a genome-wide association study. The Lancet. Neurology, 13(7), 686-699. https://doi.org/10.1016/S1474-4422(14)70065-1

@article{29f55af182c245eb80939c10c31dd7ee,

title = "Frontotemporal dementia and its subtypes: a genome-wide association study.",

abstract = "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",

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

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year = "2014",

month = jul,

doi = "10.1016/S1474-4422(14)70065-1",

language = "English",

volume = "13",

pages = "686--699",

journal = "The Lancet. Neurology",

issn = "1474-4465",

publisher = "Elsevier BV",

number = "7",

}

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, Hernández, 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, Clarimón, J, Lleó, A, Blesa, R, Waldö, ML, Nilsson, K, Nilsson, C, Mackenzie, IRA, Hsiung, G-YR, 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, Pijnenburg, YAL, Scheltens, P, Logroscino, G, Capozzo, R, Novelli, V, Puca, AA, Franceschi, M, Postiglione, A, Milan, G, Sorrentino, P, Kristiansen, M, Chiang, H-H, Graff, C, Pasquier, F, Rollin, A, Deramecourt, V, Lebert, F, Kapogiannis, D, Ferrucci, L, Pickering-Brown, S, Singleton, AB, Hardy, J & Momeni, P 2014, 'Frontotemporal dementia and its subtypes: a genome-wide association study.', The Lancet. Neurology, vol. 13, no. 7, pp. 686-699. https://doi.org/10.1016/S1474-4422(14)70065-1

TY - JOUR

T1 - Frontotemporal dementia and its subtypes: a genome-wide association study.

AU - Ferrari, Raffaele

AU - Hernandez, Dena G

AU - Nalls, Michael A

AU - Rohrer, Jonathan D

AU - Ramasamy, Adaikalavan

AU - Kwok, John B J

AU - Dobson-Stone, Carol

AU - Brooks, William S

AU - Schofield, Peter R

AU - Halliday, Glenda M

AU - Hodges, John R

AU - Piguet, Olivier

AU - Bartley, Lauren

AU - Thompson, Elizabeth

AU - Haan, Eric

AU - Hernández, Isabel

AU - Ruiz, Agustín

AU - Boada, Mercè

AU - Borroni, Barbara

AU - Padovani, Alessandro

AU - Cruchaga, Carlos

AU - Cairns, Nigel J

AU - Benussi, Luisa

AU - Binetti, Giuliano

AU - Ghidoni, Roberta

AU - Forloni, Gianluigi

AU - Galimberti, Daniela

AU - Fenoglio, Chiara

AU - Serpente, Maria

AU - Scarpini, Elio

AU - Clarimón, Jordi

AU - Lleó, Alberto

AU - Blesa, Rafael

AU - Waldö, Maria Landqvist

AU - Nilsson, Karin

AU - Nilsson, Christer

AU - Mackenzie, Ian R A

AU - Hsiung, Ging-Yuek R

AU - Mann, David M A

AU - Grafman, Jordan

AU - Morris, Christopher M

AU - Attems, Johannes

AU - Griffiths, Timothy D

AU - McKeith, Ian G

AU - Thomas, Alan J

AU - Pietrini, P

AU - Huey, Edward D

AU - Wassermann, Eric M

AU - Baborie, Atik

AU - Jaros, Evelyn

AU - Tierney, Michael C

AU - Pastor, Pau

AU - Razquin, Cristina

AU - Ortega-Cubero, Sara

AU - Alonso, Elena

AU - Perneczky, Robert

AU - Diehl-Schmid, Janine

AU - Alexopoulos, Panagiotis

AU - Kurz, Alexander

AU - Rainero, Innocenzo

AU - Rubino, Elisa

AU - Pinessi, Lorenzo

AU - Rogaeva, Ekaterina

AU - St George-Hyslop, Peter

AU - Rossi, Giacomina

AU - Tagliavini, Fabrizio

AU - Giaccone, Giorgio

AU - Rowe, James B

AU - Schlachetzki, Johannes C M

AU - Uphill, James

AU - Collinge, John

AU - Mead, Simon

AU - Danek, Adrian

AU - Van Deerlin, Vivianna M

AU - Grossman, Murray

AU - Trojanowski, John Q

AU - van der Zee, Julie

AU - Deschamps, William

AU - Van Langenhove, Tim

AU - Cruts, Marc

AU - Van Broeckhoven, Christine

AU - Cappa, Stefano F

AU - Le Ber, Isabelle

AU - Hannequin, Didier

AU - Golfier, Véronique

AU - Vercelletto, Martine

AU - Brice, Alexis

AU - Nacmias, Benedetta

AU - Sorbi, Sandro

AU - Bagnoli, Silvia

AU - Piaceri, Irene

AU - Nielsen, Jørgen E

AU - Hjermind, Lena E

AU - Riemenschneider, Matthias

AU - Mayhaus, Manuel

AU - Ibach, Bernd

AU - Gasparoni, Gilles

AU - Pichler, Sabrina

AU - Gu, Wei

AU - Rossor, Martin N

AU - Fox, Nick C

AU - Warren, Jason D

AU - Spillantini, Maria Grazia

AU - Morris, Huw R

AU - Rizzu, Patrizia

AU - Heutink, Peter

AU - Snowden, Julie S

AU - Rollinson, Sara

AU - Richardson, Anna

AU - Gerhard, Alexander

AU - Bruni, Amalia C

AU - Maletta, Raffaele

AU - Frangipane, Francesca

AU - Cupidi, Chiara

AU - Bernardi, Livia

AU - Anfossi, Maria

AU - Gallo, Maura

AU - Conidi, Maria Elena

AU - Smirne, Nicoletta

AU - Rademakers, Rosa

AU - Baker, Matt

AU - Dickson, Dennis W

AU - Graff-Radford, Neill R

AU - Petersen, Ronald C

AU - Knopman, David

AU - Josephs, Keith A

AU - Boeve, Bradley F

AU - Parisi, Joseph E

AU - Seeley, William W

AU - Miller, Bruce L

AU - Karydas, Anna M

AU - Rosen, Howard

AU - van Swieten, John C

AU - Dopper, Elise G P

AU - Seelaar, Harro

AU - Pijnenburg, Yolande A L

AU - Scheltens, Philip

AU - Logroscino, Giancarlo

AU - Capozzo, Rosa

AU - Novelli, Valeria

AU - Puca, Annibale A

AU - Franceschi, Massimo

AU - Postiglione, Alfredo

AU - Milan, Graziella

AU - Sorrentino, Paolo

AU - Kristiansen, Mark

AU - Chiang, Huei-Hsin

AU - Graff, Caroline

AU - Pasquier, Florence

AU - Rollin, Adeline

AU - Deramecourt, Vincent

AU - Lebert, Florence

AU - Kapogiannis, Dimitrios

AU - Ferrucci, Luigi

AU - Pickering-Brown, Stuart

AU - Singleton, Andrew B

AU - Hardy, John

AU - Momeni, Parastoo

N1 - 081864, Wellcome Trust, United Kingdom088324, Wellcome Trust, United Kingdom089703, Wellcome Trust, United Kingdom091681, Wellcome Trust, United Kingdom100140, Wellcome Trust, United Kingdom216, Department of Health, United KingdomAG010124, NIA NIH HHS, United StatesAG017586, NIA NIH HHS, United StatesAG019724, NIA NIH HHS, United StatesAG023501, NIA NIH HHS, United StatesAG032306, NIA NIH HHS, United StatesAG032953, NIA NIH HHS, United StatesG0301152, Medical Research Council, United KingdomG0400074, Medical Research Council, United KingdomG0700943, Medical Research Council, United KingdomG0701441, Medical Research Council, United KingdomG0802462, Medical Research Council, United KingdomG0901254, Medical Research Council, United KingdomG1100540, Medical Research Council, United KingdomG1100643, Medical Research Council, United KingdomMC_U123192748, Medical Research Council, United KingdomMR/J009482/1, Medical Research Council, United KingdomNF-SI-0508-10123, Department of Health, United KingdomNS044266, NINDS NIH HHS, United StatesP01 AG003991, NIA NIH HHS, United StatesP01 AG017586, NIA NIH HHS, United StatesP01 AG026276, NIA NIH HHS, United StatesP01 AG026276, NIA NIH HHS, United StatesP01 AG032953, NIA NIH HHS, United StatesP01 AG03991, NIA NIH HHS, United StatesP01AG019724, NIA NIH HHS, United StatesP30 AG010124, NIA NIH HHS, United StatesP30-NS069329-01, NINDS NIH HHS, United StatesP50 AG005681, NIA NIH HHS, United StatesP50 AG016574, NIA NIH HHS, United StatesP50 AG05681, NIA NIH HHS, United StatesP50 NS72187, NINDS NIH HHS, United StatesP50AG016574, NIA NIH HHS, United StatesP50AG023501, NIA NIH HHS, United StatesP50NS072187, NINDS NIH HHS, United StatesR01 AG037491, NIA NIH HHS, United StatesR01 NS044266, NINDS NIH HHS, United StatesR01 NS065782, NINDS NIH HHS, United StatesR01 NS080882, NINDS NIH HHS, United StatesZIA AG000932-04, NIA NIH HHS, United States, Canadian Institutes of Health Research, Canada

PY - 2014/7

Y1 - 2014/7

N2 - 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

AB - 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

U2 - 10.1016/S1474-4422(14)70065-1

DO - 10.1016/S1474-4422(14)70065-1

M3 - Article

C2 - 24943344

SN - 1474-4465

VL - 13

SP - 686

EP - 699

JO - The Lancet. Neurology

JF - The Lancet. Neurology

IS - 7

ER -

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

Abstract

UN SDGs

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