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<5 × 10(-8)) single-nucleotide polymorphisms.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
  
  
  BACKGROUND
  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.
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authors.lastname: Rollinson
authors.affiliation: Salford Royal Foundation Trust, Faculty of Medical and Human Sciences, University of Manchester, UK.
authors.forename: Anna
authors.initials: A
authors.lastname: Richardson
authors.affiliation: Institute of Brain, Behaviour and Mental Health, The University of Manchester, Withington, Manchester, UK.
authors.forename: Alexander
authors.initials: A
authors.lastname: Gerhard
authors.affiliation: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors.forename: Amalia C
authors.initials: AC
authors.lastname: Bruni
authors.affiliation: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Maletta
authors.affiliation: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Frangipane
authors.affiliation: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Cupidi
authors.affiliation: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: Bernardi
authors.affiliation: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Anfossi
authors.affiliation: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors.forename: Maura
authors.initials: M
authors.lastname: Gallo
authors.affiliation: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors.forename: Maria Elena
authors.initials: ME
authors.lastname: Conidi
authors.affiliation: Regional Neurogenetic Centre, ASPCZ, Lamezia Terme, Italy.
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Smirne
authors.affiliation: Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.
authors.forename: Rosa
authors.initials: R
authors.lastname: Rademakers
authors.affiliation: Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.
authors.forename: Matt
authors.initials: M
authors.lastname: Baker
authors.affiliation: Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.
authors.forename: Dennis W
authors.initials: DW
authors.lastname: Dickson
authors.affiliation: Department of Neurology, Mayo Clinic Jacksonville, Jacksonville, FL, USA.
authors.forename: Neill R
authors.initials: NR
authors.lastname: Graff-Radford
authors.affiliation: Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA.
authors.forename: Ronald C
authors.initials: RC
authors.lastname: Petersen
authors.affiliation: Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA.
authors.forename: David
authors.initials: D
authors.lastname: Knopman
authors.affiliation: Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA.
authors.forename: Keith A
authors.initials: KA
authors.lastname: Josephs
authors.affiliation: Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA.
authors.forename: Bradley F
authors.initials: BF
authors.lastname: Boeve
authors.affiliation: Department of Pathology, Mayo Clinic Rochester, Rochester, MN, USA.
authors.forename: Joseph E
authors.initials: JE
authors.lastname: Parisi
authors.affiliation: Department of Neurology, University of California, San Francisco, CA, USA.
authors.forename: William W
authors.initials: WW
authors.lastname: Seeley
authors.affiliation: Department of Neurology, University of California, San Francisco, CA, USA.
authors.forename: Bruce L
authors.initials: BL
authors.lastname: Miller
authors.affiliation: Department of Neurology, University of California, San Francisco, CA, USA.
authors.forename: Anna M
authors.initials: AM
authors.lastname: Karydas
authors.affiliation: Department of Neurology, University of California, San Francisco, CA, USA.
authors.forename: Howard
authors.initials: H
authors.lastname: Rosen
authors.affiliation: Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands; Department of Medical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.
authors.forename: John C
authors.initials: JC
authors.lastname: van Swieten
authors.affiliation: Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands.
authors.forename: Elise G P
authors.initials: EG
authors.lastname: Dopper
authors.affiliation: Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands.
authors.forename: Harro
authors.initials: H
authors.lastname: Seelaar
authors.affiliation: Alzheimer Centre and Department of Neurology, VU University Medical Centre, Amsterdam, The Netherlands.
authors.forename: Yolande A L
authors.initials: YA
authors.lastname: Pijnenburg
authors.affiliation: Alzheimer Centre and Department of Neurology, VU University Medical Centre, Amsterdam, The Netherlands.
authors.forename: Philip
authors.initials: P
authors.lastname: Scheltens
authors.affiliation: Department of Basic Medical Sciences, Neurosciences and Sense Organs of the Aldo Moro, University of Bari, Italy.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Logroscino
authors.affiliation: Department of Basic Medical Sciences, Neurosciences and Sense Organs of the Aldo Moro, University of Bari, Italy.
authors.forename: Rosa
authors.initials: R
authors.lastname: Capozzo
authors.affiliation: Department of Molecular Cardiology, IRCCS Fondazione S Maugeri, Pavia, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Novelli
authors.affiliation: Cardiovascular Research Unit, IRCCS Multimedica, Milan, Italy; Department of Medicine and Surgery, University of Salerno, Baronissi (SA), Italy.
authors.forename: Annibale A
authors.initials: AA
authors.lastname: Puca
authors.affiliation: Neurology Department, IRCCS Multimedica, Milan, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Franceschi
authors.affiliation: Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Postiglione
authors.affiliation: Geriatric Center Frullone-ASL Napoli 1 Centro, Naples, Italy.
authors.forename: Graziella
authors.initials: G
authors.lastname: Milan
authors.affiliation: Geriatric Center Frullone-ASL Napoli 1 Centro, Naples, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Sorrentino
authors.affiliation: UCL Genomics, Institute of Child Health (ICH), UCL, London, UK.
authors.forename: Mark
authors.initials: M
authors.lastname: Kristiansen
authors.affiliation: Karolinska Institutet, Department NVS, KI-Alzheimer Disease Research Center, Stockholm, Sweden; Department of Geriatric Medicine, Genetics Unit, Karolinska Universtiy Hospital, Stockholm.
authors.forename: Huei-Hsin
authors.initials: HH
authors.lastname: Chiang
authors.affiliation: Karolinska Institutet, Department NVS, KI-Alzheimer Disease Research Center, Stockholm, Sweden; Department of Geriatric Medicine, Genetics Unit, Karolinska Universtiy Hospital, Stockholm.
authors.forename: Caroline
authors.initials: C
authors.lastname: Graff
authors.affiliation: Université Lille Nord de France, Lille, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Pasquier
authors.affiliation: Université Lille Nord de France, Lille, France.
authors.forename: Adeline
authors.initials: A
authors.lastname: Rollin
authors.affiliation: Université Lille Nord de France, Lille, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Deramecourt
authors.affiliation: Université Lille Nord de France, Lille, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Lebert
authors.affiliation: Laboratory of Neurosciences, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Kapogiannis
authors.affiliation: Clinical Research Branch, National Institute on Aging, Baltimore, MD, USA.
authors.forename: Luigi
authors.initials: L
authors.lastname: Ferrucci
authors.affiliation: Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
authors.forename: Stuart
authors.initials: S
authors.lastname: Pickering-Brown
authors.affiliation: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Andrew B
authors.initials: AB
authors.lastname: Singleton
authors.affiliation: Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK. Electronic address: j.hardy@ucl.ac.uk.
authors.forename: John
authors.initials: J
authors.lastname: Hardy
authors.affiliation: Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, Texas, USA.
authors.forename: Parastoo
authors.initials: P
authors.lastname: Momeni
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D057180:Frontotemporal Dementia / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged