Literature DB >> 24943344

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

Raffaele Ferrari1, Dena G Hernandez2, Michael A Nalls3, Jonathan D Rohrer4, Adaikalavan Ramasamy5, John B J Kwok6, Carol Dobson-Stone6, William S Brooks6, Peter R Schofield6, Glenda M Halliday6, John R Hodges6, Olivier Piguet6, Lauren Bartley7, Elizabeth Thompson8, Eric Haan8, Isabel Hernández9, Agustín Ruiz9, Mercè Boada10, Barbara Borroni11, Alessandro Padovani11, Carlos Cruchaga12, Nigel J Cairns13, Luisa Benussi14, Giuliano Binetti14, Roberta Ghidoni15, Gianluigi Forloni16, Daniela Galimberti17, Chiara Fenoglio17, Maria Serpente17, Elio Scarpini17, Jordi Clarimón18, Alberto Lleó18, Rafael Blesa18, Maria Landqvist Waldö19, Karin Nilsson19, Christer Nilsson20, Ian R A Mackenzie21, Ging-Yuek R Hsiung22, David M A Mann23, Jordan Grafman24, Christopher M Morris25, Johannes Attems26, Timothy D Griffiths27, Ian G McKeith28, Alan J Thomas29, P Pietrini30, Edward D Huey31, Eric M Wassermann32, Atik Baborie33, Evelyn Jaros34, Michael C Tierney32, Pau Pastor35, Cristina Razquin36, Sara Ortega-Cubero37, Elena Alonso36, Robert Perneczky38, Janine Diehl-Schmid39, Panagiotis Alexopoulos39, Alexander Kurz39, Innocenzo Rainero40, Elisa Rubino40, Lorenzo Pinessi40, Ekaterina Rogaeva41, Peter St George-Hyslop42, Giacomina Rossi43, Fabrizio Tagliavini43, Giorgio Giaccone43, James B Rowe44, Johannes C M Schlachetzki45, James Uphill46, John Collinge46, Simon Mead46, Adrian Danek47, Vivianna M Van Deerlin48, Murray Grossman48, John Q Trojanowski48, Julie van der Zee49, William Deschamps49, Tim Van Langenhove49, Marc Cruts49, Christine Van Broeckhoven49, Stefano F Cappa50, Isabelle Le Ber51, Didier Hannequin52, Véronique Golfier53, Martine Vercelletto54, Alexis Brice51, Benedetta Nacmias55, Sandro Sorbi55, Silvia Bagnoli55, Irene Piaceri55, Jørgen E Nielsen56, Lena E Hjermind56, Matthias Riemenschneider57, Manuel Mayhaus58, Bernd Ibach59, Gilles Gasparoni58, Sabrina Pichler58, Wei Gu60, Martin N Rossor61, Nick C Fox61, Jason D Warren61, Maria Grazia Spillantini62, Huw R Morris63, Patrizia Rizzu64, Peter Heutink64, Julie S Snowden65, Sara Rollinson65, Anna Richardson66, Alexander Gerhard67, Amalia C Bruni68, Raffaele Maletta68, Francesca Frangipane68, Chiara Cupidi68, Livia Bernardi68, Maria Anfossi68, Maura Gallo68, Maria Elena Conidi68, Nicoletta Smirne68, Rosa Rademakers69, Matt Baker69, Dennis W Dickson69, Neill R Graff-Radford70, Ronald C Petersen71, David Knopman71, Keith A Josephs71, Bradley F Boeve71, Joseph E Parisi72, William W Seeley73, Bruce L Miller73, Anna M Karydas73, Howard Rosen73, John C van Swieten74, Elise G P Dopper75, Harro Seelaar75, Yolande A L Pijnenburg76, Philip Scheltens76, Giancarlo Logroscino77, Rosa Capozzo77, Valeria Novelli78, Annibale A Puca79, Massimo Franceschi80, Alfredo Postiglione81, Graziella Milan82, Paolo Sorrentino82, Mark Kristiansen83, Huei-Hsin Chiang84, Caroline Graff84, Florence Pasquier85, Adeline Rollin85, Vincent Deramecourt85, Florence Lebert85, Dimitrios Kapogiannis86, Luigi Ferrucci87, Stuart Pickering-Brown65, Andrew B Singleton3, John Hardy88, Parastoo Momeni89.   

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<5 × 10(-8)) single-nucleotide polymorphisms.
FINDINGS: We identified novel associations exceeding the genome-wide significance threshold (p<5 × 10(-8)). Combined (joint) analyses of discovery and replication phases showed genome-wide significant association at 6p21.3, HLA locus (immune system), for rs9268877 (p=1·05 × 10(-8); odds ratio=1·204 [95% CI 1·11-1·30]), rs9268856 (p=5·51 × 10(-9); 0·809 [0·76-0·86]) and rs1980493 (p value=1·57 × 10(-8), 0·775 [0·69-0·86]) in the entire cohort. We also identified a potential novel locus at 11q14, encompassing RAB38/CTSC (the transcripts of which are related to lysosomal biology), for the behavioural FTD subtype for which joint analyses showed suggestive association for rs302668 (p=2·44 × 10(-7); 0·814 [0·71-0·92]). Analysis of expression and methylation quantitative trait loci data suggested that these loci might affect expression and methylation in cis.
INTERPRETATION: Our findings suggest that immune system processes (link to 6p21.3) and possibly lysosomal and autophagy pathways (link to 11q14) are potentially involved in FTD. Our findings need to be replicated to better define the association of the newly identified loci with disease and to shed light on the pathomechanisms contributing to FTD. FUNDING: The National Institute of Neurological Disorders and Stroke and National Institute on Aging, the Wellcome/MRC Centre on Parkinson's disease, Alzheimer's Research UK, and Texas Tech University Health Sciences Center.
Copyright © 2014 Elsevier Ltd. All rights reserved.

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Mesh:

Year:  2014        PMID: 24943344      PMCID: PMC4112126          DOI: 10.1016/S1474-4422(14)70065-1

Source DB:  PubMed          Journal:  Lancet Neurol        ISSN: 1474-4422            Impact factor:   44.182


  54 in total

1.  Gene expression analyses reveal molecular relationships among 20 regions of the human CNS.

Authors:  Richard B Roth; Peter Hevezi; Jerry Lee; Dorian Willhite; Sandra M Lechner; Alan C Foster; Albert Zlotnik
Journal:  Neurogenetics       Date:  2006-03-30       Impact factor: 2.660

Review 2.  Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria.

Authors:  D Neary; J S Snowden; L Gustafson; U Passant; D Stuss; S Black; M Freedman; A Kertesz; P H Robert; M Albert; K Boone; B L Miller; J Cummings; D F Benson
Journal:  Neurology       Date:  1998-12       Impact factor: 9.910

Review 3.  Peripheral inflammation in neurodegeneration.

Authors:  Ulrike Träger; Sarah J Tabrizi
Journal:  J Mol Med (Berl)       Date:  2013-04-02       Impact factor: 4.599

4.  Serological cloning of a melanocyte rab guanosine 5'-triphosphate-binding protein and a chromosome condensation protein from a melanoma complementary DNA library.

Authors:  D Jäger; E Stockert; E Jäger; A O Güre; M J Scanlan; A Knuth; L J Old; Y T Chen
Journal:  Cancer Res       Date:  2000-07-01       Impact factor: 12.701

5.  Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

Authors:  Marc Cruts; Ilse Gijselinck; Julie van der Zee; Sebastiaan Engelborghs; Hans Wils; Daniel Pirici; Rosa Rademakers; Rik Vandenberghe; Bart Dermaut; Jean-Jacques Martin; Cornelia van Duijn; Karin Peeters; Raf Sciot; Patrick Santens; Tim De Pooter; Maria Mattheijssens; Marleen Van den Broeck; Ivy Cuijt; Krist'l Vennekens; Peter P De Deyn; Samir Kumar-Singh; Christine Van Broeckhoven
Journal:  Nature       Date:  2006-07-16       Impact factor: 49.962

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Authors:  Tanja Zeller; Philipp Wild; Silke Szymczak; Maxime Rotival; Arne Schillert; Raphaele Castagne; Seraya Maouche; Marine Germain; Karl Lackner; Heidi Rossmann; Medea Eleftheriadis; Christoph R Sinning; Renate B Schnabel; Edith Lubos; Detlev Mennerich; Werner Rust; Claire Perret; Carole Proust; Viviane Nicaud; Joseph Loscalzo; Norbert Hübner; David Tregouet; Thomas Münzel; Andreas Ziegler; Laurence Tiret; Stefan Blankenberg; François Cambien
Journal:  PLoS One       Date:  2010-05-18       Impact factor: 3.240

7.  Genome-wide analysis of genetic loci associated with Alzheimer disease.

Authors:  Sudha Seshadri; Annette L Fitzpatrick; M Arfan Ikram; Anita L DeStefano; Vilmundur Gudnason; Merce Boada; Joshua C Bis; Albert V Smith; Minerva M Carassquillo; Jean Charles Lambert; Denise Harold; Elisabeth M C Schrijvers; Reposo Ramirez-Lorca; Stephanie Debette; W T Longstreth; A Cecile J W Janssens; V Shane Pankratz; Jean François Dartigues; Paul Hollingworth; Thor Aspelund; Isabel Hernandez; Alexa Beiser; Lewis H Kuller; Peter J Koudstaal; Dennis W Dickson; Christophe Tzourio; Richard Abraham; Carmen Antunez; Yangchun Du; Jerome I Rotter; Yurii S Aulchenko; Tamara B Harris; Ronald C Petersen; Claudine Berr; Michael J Owen; Jesus Lopez-Arrieta; Badri N Varadarajan; James T Becker; Fernando Rivadeneira; Michael A Nalls; Neill R Graff-Radford; Dominique Campion; Sanford Auerbach; Kenneth Rice; Albert Hofman; Palmi V Jonsson; Helena Schmidt; Mark Lathrop; Thomas H Mosley; Rhoda Au; Bruce M Psaty; Andre G Uitterlinden; Lindsay A Farrer; Thomas Lumley; Agustin Ruiz; Julie Williams; Philippe Amouyel; Steve G Younkin; Philip A Wolf; Lenore J Launer; Oscar L Lopez; Cornelia M van Duijn; Monique M B Breteler
Journal:  JAMA       Date:  2010-05-12       Impact factor: 56.272

8.  Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies.

Authors:  Adaikalavan Ramasamy; Daniah Trabzuni; J Raphael Gibbs; Allissa Dillman; Dena G Hernandez; Sampath Arepalli; Robert Walker; Colin Smith; Gigaloluwa Peter Ilori; Andrey A Shabalin; Yun Li; Andrew B Singleton; Mark R Cookson; John Hardy; Mina Ryten; Michael E Weale
Journal:  Nucleic Acids Res       Date:  2013-02-21       Impact factor: 16.971

9.  A re-annotation pipeline for Illumina BeadArrays: improving the interpretation of gene expression data.

Authors:  Nuno L Barbosa-Morais; Mark J Dunning; Shamith A Samarajiwa; Jeremy F J Darot; Matthew E Ritchie; Andy G Lynch; Simon Tavaré
Journal:  Nucleic Acids Res       Date:  2009-11-18       Impact factor: 16.971

10.  An anatomically comprehensive atlas of the adult human brain transcriptome.

Authors:  Michael J Hawrylycz; Ed S Lein; Angela L Guillozet-Bongaarts; Elaine H Shen; Lydia Ng; Jeremy A Miller; Louie N van de Lagemaat; Kimberly A Smith; Amanda Ebbert; Zackery L Riley; Chris Abajian; Christian F Beckmann; Amy Bernard; Darren Bertagnolli; Andrew F Boe; Preston M Cartagena; M Mallar Chakravarty; Mike Chapin; Jimmy Chong; Rachel A Dalley; Barry David Daly; Chinh Dang; Suvro Datta; Nick Dee; Tim A Dolbeare; Vance Faber; David Feng; David R Fowler; Jeff Goldy; Benjamin W Gregor; Zeb Haradon; David R Haynor; John G Hohmann; Steve Horvath; Robert E Howard; Andreas Jeromin; Jayson M Jochim; Marty Kinnunen; Christopher Lau; Evan T Lazarz; Changkyu Lee; Tracy A Lemon; Ling Li; Yang Li; John A Morris; Caroline C Overly; Patrick D Parker; Sheana E Parry; Melissa Reding; Joshua J Royall; Jay Schulkin; Pedro Adolfo Sequeira; Clifford R Slaughterbeck; Simon C Smith; Andy J Sodt; Susan M Sunkin; Beryl E Swanson; Marquis P Vawter; Derric Williams; Paul Wohnoutka; H Ronald Zielke; Daniel H Geschwind; Patrick R Hof; Stephen M Smith; Christof Koch; Seth G N Grant; Allan R Jones
Journal:  Nature       Date:  2012-09-20       Impact factor: 49.962

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  122 in total

Review 1.  Comparative Microarray Analysis Identifies Commonalities in Neuronal Injury: Evidence for Oxidative Stress, Dysfunction of Calcium Signalling, and Inhibition of Autophagy-Lysosomal Pathway.

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Journal:  Neurochem Res       Date:  2015-08-29       Impact factor: 3.996

Review 2.  FTD and ALS--translating mouse studies into clinical trials.

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Review 3.  [Genetics of dementia].

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Review 4.  Essential role for autophagy in life span extension.

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5.  Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments.

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Review 6.  Genetics and underlying pathology of dementia.

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Review 7.  Epigenetic mechanisms underlying the pathogenesis of neurogenetic diseases.

Authors:  Irfan A Qureshi; Mark F Mehler
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

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Authors:  Raffaele Ferrari; Yunpeng Wang; Jana Vandrovcova; Sebastian Guelfi; Aree Witeolar; Celeste M Karch; Andrew J Schork; Chun C Fan; James B Brewer; Parastoo Momeni; Gerard D Schellenberg; William P Dillon; Leo P Sugrue; Christopher P Hess; Jennifer S Yokoyama; Luke W Bonham; Gil D Rabinovici; Bruce L Miller; Ole A Andreassen; Anders M Dale; John Hardy; Rahul S Desikan
Journal:  J Neurol Neurosurg Psychiatry       Date:  2016-11-29       Impact factor: 10.154

9.  Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia.

Authors:  Jennifer S Yokoyama; Celeste M Karch; Chun C Fan; Luke W Bonham; Naomi Kouri; Owen A Ross; Rosa Rademakers; Jungsu Kim; Yunpeng Wang; Günter U Höglinger; Ulrich Müller; Raffaele Ferrari; John Hardy; Parastoo Momeni; Leo P Sugrue; Christopher P Hess; A James Barkovich; Adam L Boxer; William W Seeley; Gil D Rabinovici; Howard J Rosen; Bruce L Miller; Nicholas J Schmansky; Bruce Fischl; Bradley T Hyman; Dennis W Dickson; Gerard D Schellenberg; Ole A Andreassen; Anders M Dale; Rahul S Desikan
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