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GWAS Study

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

Ferrari R, Hernandez DG, Nalls MA et al.

24943344 PubMed ID
GWAS Study Type
12928 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

FR
Ferrari R
HD
Hernandez DG
NM
Nalls MA
RJ
Rohrer JD
RA
Ramasamy A
KJ
Kwok JB
DC
Dobson-Stone C
BW
Brooks WS
SP
Schofield PR
HG
Halliday GM
HJ
Hodges JR
PO
Piguet O
BL
Bartley L
TE
Thompson E
HE
Haan E
HI
Hernández I
RA
Ruiz A
BM
Boada M
BB
Borroni B
PA
Padovani A
CC
Cruchaga C
CN
Cairns NJ
BL
Benussi L
BG
Binetti G
GR
Ghidoni R
FG
Forloni G
GD
Galimberti D
FC
Fenoglio C
SM
Serpente M
SE
Scarpini E
CJ
Clarimón J
LA
Lleó A
BR
Blesa R
WM
Waldö ML
NK
Nilsson K
NC
Nilsson C
MI
Mackenzie IR
HG
Hsiung GY
MD
Mann DM
GJ
Grafman J
MC
Morris CM
AJ
Attems J
GT
Griffiths TD
MI
McKeith IG
TA
Thomas AJ
PP
Pietrini P
HE
Huey ED
WE
Wassermann EM
BA
Baborie A
JE
Jaros E
TM
Tierney MC
PP
Pastor P
RC
Razquin C
OS
Ortega-Cubero S
AE
Alonso E
PR
Perneczky R
DJ
Diehl-Schmid J
AP
Alexopoulos P
KA
Kurz A
RI
Rainero I
RE
Rubino E
PL
Pinessi L
RE
Rogaeva E
SG
St George-Hyslop P
RG
Rossi G
TF
Tagliavini F
GG
Giaccone G
RJ
Rowe JB
SJ
Schlachetzki JC
UJ
Uphill J
CJ
Collinge J
MS
Mead S
DA
Danek A
VD
Van Deerlin VM
GM
Grossman M
TJ
Trojanowski JQ
VD
van der Zee J
DW
Deschamps W
VL
Van Langenhove T
CM
Cruts M
VB
Van Broeckhoven C
CS
Cappa SF
LB
Le Ber I
HD
Hannequin D
GV
Golfier V
VM
Vercelletto M
BA
Brice A
NB
Nacmias B
SS
Sorbi S
BS
Bagnoli S
PI
Piaceri I
NJ
Nielsen JE
HL
Hjermind LE
RM
Riemenschneider M
MM
Mayhaus M
IB
Ibach B
GG
Gasparoni G
PS
Pichler S
GW
Gu W
RM
Rossor MN
FN
Fox NC
WJ
Warren JD
SM
Spillantini MG
MH
Morris HR
RP
Rizzu P
HP
Heutink P
SJ
Snowden JS
RS
Rollinson S
RA
Richardson A
GA
Gerhard A
BA
Bruni AC
MR
Maletta R
FF
Frangipane F
CC
Cupidi C
BL
Bernardi L
AM
Anfossi M
GM
Gallo M
CM
Conidi ME
SN
Smirne N
RR
Rademakers R
BM
Baker M
DD
Dickson DW
GN
Graff-Radford NR
PR
Petersen RC
KD
Knopman D
JK
Josephs KA
BB
Boeve BF
PJ
Parisi JE
SW
Seeley WW
MB
Miller BL
KA
Karydas AM
RH
Rosen H
VS
van Swieten JC
DE
Dopper EG
SH
Seelaar H
PY
Pijnenburg YA
SP
Scheltens P
LG
Logroscino G
CR
Capozzo R
NV
Novelli V
PA
Puca AA
FM
Franceschi M
PA
Postiglione A
MG
Milan G
SP
Sorrentino P
KM
Kristiansen M
CH
Chiang HH
GC
Graff C
PF
Pasquier F
RA
Rollin A
DV
Deramecourt V
LF
Lebert F
KD
Kapogiannis D
FL
Ferrucci L
PS
Pickering-Brown S
SA
Singleton AB
HJ
Hardy J
MP
Momeni P
Chapter II

Abstract

Summary of the research findings

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.

1,377 European ancestry behavioural variant cases, 308 European ancestry Semantic dementia cases, 269 European ancestry Progressive nonfluent aphasia cases, 200 European ancestry Frontotremporal dementia with motor neuron disease cases, up to 4,308 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

12928
Total Participants
GWAS
Study Type
Yes
Replicated
690 European ancestry behavioural variant cases, 190 European ancestry Semantic dementia cases, 221 European ancestry Progressive nonfluent aphasia cases, 94 European ancestry Frontotremporal dementia with motor neuron disease cases, 177 European ancestry Frontotemporal lobar degeneration cases, up to 5,094 European ancestry controls
Replication Participants
European
Ancestry
Sweden, U.S., Italy, Netherlands, Belgium, Germany, U.K., France, Denmark, Australia, Spain
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

Important Disclaimer: This review has been performed semi-automatically and is provided for informational purposes only. While we strive for accuracy, this analysis may contain errors, omissions, or misinterpretations of the original research. DNA Genics disclaims all liability for any inaccuracies, errors, or consequences arising from the use of this information. Users should independently verify all information and consult original research publications before making any decisions based on this content. This analysis is not intended as a substitute for professional scientific review or medical advice.

Analysis In Progress

Our analysis of this publication is currently being prepared. Please check back soon for comprehensive insights into the health and genetic findings discussed in this research.