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GWAS Study

X-chromosome-wide association study for Alzheimer's disease.

Le Borgne J, Gomez L, Heikkinen S et al.

39633006 PubMed ID
GWAS Study Type
125255 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

LB
Le Borgne J
GL
Gomez L
HS
Heikkinen S
AN
Amin N
AS
Ahmad S
CS
Choi SH
BJ
Bis J
GB
Grenier-Boley B
RO
Rodriguez OG
KL
Kleineidam L
YJ
Young J
TK
Tripathi KP
WL
Wang L
VA
Varma A
CR
Campos-Martin R
VD
van der Lee S
DV
Damotte V
DR
de Rojas I
PS
Palmal S
LR
Lipton R
RE
Reiman E
MA
McKee A
DJ
De Jager P
BW
Bush W
SS
Small S
LA
Levey A
SA
Saykin A
FT
Foroud T
AM
Albert M
HB
Hyman B
PR
Petersen R
YS
Younkin S
SM
Sano M
WT
Wisniewski T
VR
Vassar R
SJ
Schneider J
HV
Henderson V
RE
Roberson E
DC
DeCarli C
LF
LaFerla F
BJ
Brewer J
SR
Swerdlow R
VE
Van Eldik L
HK
Hamilton-Nelson K
PH
Paulson H
NA
Naj A
LO
Lopez O
CH
Chui H
CP
Crane P
GT
Grabowski T
KW
Kukull W
AS
Asthana S
CS
Craft S
SS
Strittmatter S
CC
Cruchaga C
LJ
Leverenz J
GA
Goate A
KM
Kamboh MI
GP
George-Hyslop PS
VO
Valladares O
KA
Kuzma A
CL
Cantwell L
RM
Riemenschneider M
MJ
Morris J
SS
Slifer S
DC
Dalmasso C
CA
Castillo A
KF
Küçükali F
PO
Peters O
SA
Schneider A
DM
Dichgans M
RD
Rujescu D
SN
Scherbaum N
DJ
Deckert J
RS
Riedel-Heller S
HL
Hausner L
ML
Molina-Porcel L
DE
Düzel E
GT
Grimmer T
WJ
Wiltfang J
HS
Heilmann-Heimbach S
MS
Moebus S
TT
Tegos T
SN
Scarmeas N
DO
Dols-Icardo O
MF
Moreno F
PJ
Pérez-Tur J
BM
Bullido MJ
PP
Pastor P
SR
Sánchez-Valle R
ÁV
Álvarez V
BM
Boada M
GP
García-González P
PR
Puerta R
MP
Mir P
RL
Real LM
PG
Piñol-Ripoll G
GJ
García-Alberca JM
RJ
Royo JL
RE
Rodriguez-Rodriguez E
SH
Soininen H
DM
de Mendonça A
MS
Mehrabian S
TL
Traykov L
HJ
Hort J
VM
Vyhnalek M
TJ
Thomassen JQ
PY
Pijnenburg YAL
HH
Holstege H
VS
van Swieten J
RI
Ramakers I
VF
Verhey F
SP
Scheltens P
GC
Graff C
PG
Papenberg G
GV
Giedraitis V
BA
Boland A
DJ
Deleuze JF
NG
Nicolas G
DC
Dufouil C
PF
Pasquier F
HO
Hanon O
DS
Debette S
GE
Grünblatt E
PJ
Popp J
GR
Ghidoni R
GD
Galimberti D
AB
Arosio B
MP
Mecocci P
SV
Solfrizzi V
PL
Parnetti L
SA
Squassina A
TL
Tremolizzo L
BB
Borroni B
NB
Nacmias B
SM
Spallazzi M
SD
Seripa D
RI
Rainero I
DA
Daniele A
BP
Bossù P
MC
Masullo C
RG
Rossi G
JF
Jessen F
FV
Fernandez V
KP
Kehoe PG
FR
Frikke-Schmidt R
TM
Tsolaki M
SP
Sánchez-Juan P
SK
Sleegers K
IM
Ingelsson M
HJ
Haines J
FL
Farrer L
MR
Mayeux R
WL
Wang LS
SR
Sims R
DA
DeStefano A
SG
Schellenberg GD
SS
Seshadri S
AP
Amouyel P
WJ
Williams J
VD
van der Flier W
RA
Ramirez A
PM
Pericak-Vance M
AO
Andreassen OA
VD
Van Duijn C
HM
Hiltunen M
RA
Ruiz A
DJ
Dupuis J
ME
Martin E
LJ
Lambert JC
KB
Kunkle B
BC
Bellenguez C
Chapter II

Abstract

Summary of the research findings

Due to methodological reasons, the X-chromosome has not been featured in the major genome-wide association studies on Alzheimer's Disease (AD). To address this and better characterize the genetic landscape of AD, we performed an in-depth X-Chromosome-Wide Association Study (XWAS) in 115,841 AD cases or AD proxy cases, including 52,214 clinically-diagnosed AD cases, and 613,671 controls. We considered three approaches to account for the different X-chromosome inactivation (XCI) states in females, i.e. random XCI, skewed XCI, and escape XCI. We did not detect any genome-wide significant signals (P ≤ 5 × 10-8) but identified seven X-chromosome-wide significant loci (P ≤ 1.6 × 10-6). The index variants were common for the Xp22.32, FRMPD4, DMD and Xq25 loci, and rare for the WNK3, PJA1, and DACH2 loci. Overall, this well-powered XWAS found no genetic risk factors for AD on the non-pseudoautosomal region of the X-chromosome, but it identified suggestive signals warranting further investigations.

52,214 European ancestry cases, 73,043 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

125255
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Portugal, Switzerland, Spain, Greece, Austria, Czech Republic, Netherlands, Sweden, U.S., Belgium, Finland, Denmark, Italy, U.K., Bulgaria, France, Germany
Recruitment Country
Chapter IV

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