Enter your keywords
HOME
About Us
NEWSLETTER
To search AlzGene, use the "Keyword" search on the
AlzGene search page
.
NEWS
All News
Conference Coverage
Series
WEBINARS
All Webinars
Databases
AlzBiomarker
AlzPedia
AlzRisk
Antibodies
Genetics
AlzGene
HEX
Mutations
Protocols
Research Models
Therapeutics
PAPERS
All Papers
Papers of the Week
Milestone
Alzforum Recommends
PROFESSIONAL RESOURCES
Conference Calendar
Grants
Jobs
Member Directory
ABOUT AD
AD Overview
Early-Onset Familial
The HBO Alzheimer's Project
Supported Browsers
MY ALZFORUM
My AlzForum Home
View Library
View Notifications
Set Notifications
Edit Profile
AlzGene - Overview of all published large-scale and genome-wide association studies in AD
Status:
Updated 18 April 2011
; **
See Large Scale Study Methods
**
GWAS (genome-wide association studies)
AD Cases
Normal Controls
Study
Design
Type
Population
Source
Platform
# of SNPs
Genotype Data Publicly Available
DX
# Subjects
(GWAS)
# Subjects
(follow-up)
# Subjects
(GWAS)
# Subjects
(follow-up)
Featured Genes
Comment
Caucasian
Abraham, 2008
CC
GWAS (pooled)
Overlaps with
Harold, 2009
CL
Illumina (300K + 240K)
561,494
No
C
1082
-
1239
1400
APOE
LRAT
Beecham, 2009
CC
GWAS
USA (CAP)
Illumina (550K)
532,000
No
M
492
238
496
220
APOE
FAM113B
Bertram, 2008
FBAT
GWAS
USA (NIMH)
CL
Affymetrix (500K)
484,522
No
M
941
1767
404
838
APOE
ATXN1
CD33
GWA_14q31.2
Carrasquillo, 2009
CC
GWAS
USA (Mayo)
CL
Illumina (300K)
313,504
No
M
844
1547
1255
1209
APOE
PCDH11X
Coon, 2007
CC
GWAS
USA, Netherlands (TGEN1)
CL
Affymetrix (500K)
502,627
No
N
664
-
422
-
APOE
Grupe, 2007
CC
GWAS
USA & UK
CL
Celera (cSNPs)
17,343
No
M
380
1428
396
1666
ACAN
APOE
BCR
CTSS
EBF3
FAM63A
GALP
GWA_14q32.13
GWA_7p15.2
LMNA
LOC651924
MYH13
PCK1
PGBD1
TNK1
TRAK2
UBD
Harold, 2009
* Recently Updated *
CC
GWAS
Europe & USA (GERAD1)
CL,PO
Illumina (various)
529,205
No
M
3941
2023
7848
2340
APOE
CLU
PICALM
Heinzen, 2009
CC
GWAS+CNV
USA (CAP, DUKE)
CL
Illumina (550K)
n.g.
No
U
331
-
368
-
APOE
CHRNA7
Hollingworth, 2011
* Recently Updated *
CC
GWAS
Europe & USA (GERAD1+2, EADI1+2, ADNI, TGEN1, MAYO2, CHARGE)
CL,PO
Various
496,763
No
M
6688
13182
13685
26261
ABCA7
BIN1
CD2AP
CD33
CR1
EPHA1
MS4A4E
MS4A6A
Hu, 2011
* Recently Updated *
CC
GWAS
USA (Pfizer, ADNI), Canada (GenADA, Genizon)
CL
Illumina (550K/610K)
509,376
No
C
1831
751
1764
751
APOE
BIN1
Lambert, 2009
* Recently Updated *
CC
GWAS
Europe (EADI1)
CL
Illumina (610K)
537,029
No
C
2032
3978
5328
3297
APOE
CLU
CR1
Li, 2008
* Recently Updated *
CC
GWAS
Canada (GenADA)
CL
Affymetrix (500K)
469,438
Yes
C
753
418
736
249
APOE
GOLM1
GWA_15q21.2
GWA_9p24.3
Naj, 2011
* Recently Updated *
CC
GWAS
USA (ADGC)
CL
Various
2,324,889 (imputed)
No
M
8309
3531
7366
3565
APOE
BIN1
CD2AP
CD33
CLU
CR1
EPHA1
MS4A4A
PICALM
Poduslo, 2009
CC, FBAT
GWAS
USA
CL
Affymetrix (500K)
489,218
No
C
9
199
10
225
TRPC4AP
Potkin, 2009
CC, QT
GWAS
USA (ADNI)
CL
Illumina (610K)
516,645
Yes
C
172
-
209
-
APOE
ARSB
CAND1
EFNA5
MAGI2
PRUNE2
TOMM40
Reiman, 2007
* Recently Updated *
CC
GWAS
USA, Netherlands (TGEN1)
CL
Affymetrix (500K)
312,316
Yes
M
446
415
290
260
GAB2
Seshadri, 2010
* Recently Updated *
CC
GWAS + meta-analysis
Europe & USA (CHARGE, EADI1, GERAD1)
CL,PO
Various
2,540,000 (imputed)
No
M
3006
6505
22604
13532
APOE
BIN1
CLU
EXOC3L2
PICALM
Sherva, 2011
* Recently Added *
CC
GWAS
Israel (Wadi Ara)
CO
Illumina (300K, CNV370)
2,540,000 (imputed)
No
C
124
-
142
-
AGPAT1
ATP6V0A4
GLOD4
RGS6
TMEM132C
Wijsman, 2011
* Recently Updated *
CC, FBAT
GWAS
USA (NIA, NCRAD)
CL
Illumina (610K)
565,336
Yes
M
1848
617
1991
573
APOE
CELF2
Other/Mixed
Lee, 2011
* Recently Updated *
CC
GWAS
USA (WHICAP, EFIGA, NIA, NCRAD)
CL,PO
Illumina (650Y)
627,380
No
C
549
2449
544
1390
DGKB
GWA_10q23.1
GWA_18q23
GWA_3q25.2
HPCAL1
Naj, 2010
CC
GWAS
USA (CAP, NCRAD)
CL
Illumina (multiple)
483,399
No
M
931
1338
1104
2003
APOE
MTHFD1L
Contact us
if you are an author of an association study regarding this gene and do not find your study in this table or find errors in the representation of your study details.
Other large-scale studies
AD Cases
Normal Controls
Study
Design
Type
Population
Source
Platform
# of SNPs
Genotype Data Publicly Available
DX
# Subjects
(GWAS)
# Subjects
(follow-up)
# Subjects
(GWAS)
# Subjects
(follow-up)
Featured Genes
Comment
Caucasian
Chapuis, 2009
CC
Other
France, USA, UK
CL,PO
Custom
1156
No
C
507
1694
438
7393
IL33
Furney, 2010
* Recently Updated *
QT
GWAS (MRI)
Europe (AddNeuroMed), USA (ADNI)
CL
Illumina (610K)
478,081
No
C
245
-
718
-
GWA_3p22.3
PICALM
ZNF292
Giedraitis, 2009
CC
Candidate genes
Sweden (ULSAM)
CL
Custom
2578
Yes
C
86
-
404
598
APOA5
APOE
CSK
IGF1
KLF5
Grupe, 2006
CC
Chr. 10
Overlaps with
Grupe, 2007
CL
Celera (cSNPs)
1,412
No
M
422
1374
382
1386
LOC439999
Han, 2010
* Recently Added *
QT
GWAS (CSF)
USA (ADNI)
CL
Illumina (610K)
498,205
Yes
C
176
-
234
-
APOE
ARL5B
CYP19A1
NCAM2
Jones, 2010
* Recently Added *
CC
GWAS (re-analysis)
Europe & USA (EADI1, GERAD1)
CL
See primary studies
n.g.
No
M
-
-
-
-
PATHWAY2
PATHWAY3
Kim, 2011
* Recently Added *
QT
GWAS (CSF-QT)
USA (ADNI)
CL
Illumina (610K)
322,557
Yes
C
96
-
278
-
APOE
CCDC134
EPC2
Lambert, 2010
* Recently Added *
CC
GWAS (re-analysis)
Europe (EADI1)
CL
See primary study
537,029
No
C
-
-
-
-
PATHWAY1
PATHWAY2
Lee, 2008
CC, FBAT
GWL+GWAS
USA (NIA)
CL
Illumina (Linkage-IVb)
5616
Yes
M
776
-
1109
-
APOE
CECR2
GWA_20q13.33
GWA_7q31.1
KIF18B
SYN3
Li, 2006
CC
Chr. 9
Overlaps with
Grupe, 2007
CL
Celera (cSNPs)
674
No
M
419
1671
377
2064
DAPK1
Li, 2008
CC
Other (pooled)
USA & UK
CL
Celera (cSNPs)
4692
No
C
380
1632
396
2156
APOE
NEDD9
Liang, 2009
CC, FBAT
Chr. 10
USA
CL
Custom
667
No
M
506
1521
558
974
CACNB2
PTPLA
SORCS1
Morgan, 2008
CC
Chr. 10 (pooled)
UK (MRC)
CL
Custom
528
No
C
366
1001
366
1001
ANK3
DKK1
TET1
VR22
Nalls, 2009
CC
ROH mapping
Same as Reiman, 2007
CL
See primary study
n.g.
Yes
M
837
-
550
-
ROH_8p12
Shen, 2010
* Recently Added *
QT
GWAS (MRI)
USA (ADNI)
CL
Illumina (610K)
530,992
Yes
C
175
-
558
-
APOE
EPHA4
NXPH1
TP63
Thornton-Wells, 2008
CC, FBAT
Other
USA (CAP, NIMH, IU)
CL
Custom
148
No
M
1873
-
1443
-
ACE
CDC2
LRRTM3
PLAU
Zubenko, 1998
CC
GWAS (STR, pooled)
USA
CL
CHLC Weber v6
391
No
N
50
50
50
50
C10orf112
Zuchner, 2008
CC
Chr. 9
USA (CAP, NIMH, IU)
CL
Custom
80
No
M
1454
-
928
-
CDKN2A
Asian
Kuwano, 2006
CC
Chr. 10 fine-mapping
Japan
CL
Custom
1206
No
C
363
336
337
372
DNMBP
Miyashita, 2007
CC
Chr. 10 fine-mapping
Re-analysis of Kuwano, 2006
CL
Custom
1140
No
C
363
336
337
372
VR22
Contact us
if you are an author of an association study regarding this gene and do not find your study in this table or find errors in the representation of your study details.
Design:
“CC” (case-control), “FBAT” (family-based)
Type:
“GWAS” (genome-wide association study); “Chromosome #” (chromosome-wide association study); “Other” (other large-scale association study); “cSNP” (coding-region SNP); "pooled" (large-scale association study based on pooled genotyping)
Source:
Source of case population -> “CL” (clinic-based), “PO” (population-based), or “CO” (community-based).
Platform:
Please refer to orignal publication for exact description.
# SNPs:
Approximate number of polymorphisms covered.
Onset Age and Age:
Mean or median age at onset or examination, respectively.
DX:
Criteria used to determine AD diagnosis -> "C" (clinical AD diagnosis), "N" (neuropathological AD diagnosis), "M" (mixed, i.e. AD sample contains both clinical and neuropathological cases), "U" (unknown).
Featured Genes:
Dropdown menu of genes highlighted (“featured”) in original publication as potential AD susceptibility genes/loci after completion of all analyses, e.g. replication in multiple samples. Markers in linkage-disequilibrium with APOE ε2/3/4 (e.g. variants located in APOC1, APOC2, PVRL2, or TOMM40) are summarized as "APOE" in this list. For more details,
see APOE Methods
.
(-)
: No information provided.
AlzGene Recent Updates
APOE
PICALM
MS4A6A
MS4A4A
MS4A4E
EPHA1
CR1
CLU
CD33
CD2AP
BIN1
ABCA7
ARID5B
CELF2
APOC4
BCAM
CLPTM1
PVRL2
LOC3884...
TNK1
MYH13
TOMM40
PCK1
SORL1
LMNA
PGBD1
UBD
GWA_7p1...
GAB2
GOLM1
GWA_15q...
GWA_9p2...
MTHFD1L
LRAT
FAM113B
PCDH11X
GWA_14q...
ATXN1
ADAM10
CD36
DPYS
TGM4
HMMR
LAMB1
PPP3CB
ADORA2B
MTP18
ESR1
CYP19A1
LIPA
CH25H
IL1RN
LPA
MTR
FAS
CHAT
CHRNA2
CHRNA6
CHRNA7
HTR2A
PIN1
NTRK2
SERPINA...
DLST
MAPT/ST...
APOC1
LRRTM3
REN
TNFRSF1...
PIK3R1
FYN
PPP1R3A
NDUFA8
MAPK8IP...
GRIN2B
TNFRSF1...
NDUFA6
PTGS2
HFE
ABCA1
LRP8
PPARG
APBB2
LDLR
IL10
BDNF
PPARA
SOAT1
NOS3
CHRNB2
CETP
MARCH5
ACE
PON1
PON2
CDK5
CTSD
VR22
LRP1
IL6
BACE1
BACE2
PSEN2
PLAU
GSTO1
GSTO2
PRSS11
IDE
CST3
PRNP
NCSTN
TF
MME
PSEN1
TCF7L2
DYRK1A
SORCS2
SORCS3
F11R
TUBB
GRN
NEDD9
ARMS2
SMAD3
VCP
WWC1
DNM2
EBF3
EIF2AK2
SEC24C
SGPL1
ABCG1
LSS
ABCG4
CYP39A1
NCAPD2
GAPDHS
ACTA2
KCNMA1
MYST4
SCD
ANK3
GOT1
SORCS1
TAP2
ENTPD7
DNMBP
CXCL10
VPS26A
C12orf4...
CCNT1
DAPK1
POMT1
IREB2
HMGCR
IGF1R
ABCB1
DSC1
NQO1
HMOX1
LIPC
HMGCS1
RFTN1
APOA1BP
FDPS
HMGCS2
PRKAB2
ADAM12
DHCR24
SOS2
ABCC9
GRB14
HK1
IRS1
NEUROD1
PDE3B
PPARGC1...
PPP1CC
SLC2A2
HECTD2
PITRM1
TARDBP
CDKN2A
IGF1
CSK
CBLC
CARD8
HMOX2
TRPC4AP
GSTZ1
NUMB
POMT2
TMEM63C
THRA
TACR2
OLIG2
TTR
TNMD
EFNA5
MAGI2
CAND1
PPIL2
CDKN2BA...
PTPLA
ACAT2
CHRNB4
DGKB
GWA_10q...
GWA_18q...
GWA_3q2...
HPCAL1
EXOC3L2
GWA_3p2...
ZNF292
PATHWAY...
PATHWAY...
PATHWAY...
TP63
TMEM132...
RGS6
NXPH1
NCAM2
GLOD4
EPHA4
EPC2
CCDC134
ATP6V0A...
ARL5B
AGPAT1
AlzGene Top Results
Top Results Details
1.
APOE_e2/3/4
2.
BIN1
3.
CLU
4.
ABCA7
5.
CR1
6.
PICALM
7.
MS4A6A
8.
CD33
9.
MS4A4E
10.
CD2AP
AlzGene Stats
Studies: 1395
Genes: 695
Polymorphisms: 2973
Meta-analyses: 320
Proud supporter of the AlzGene database.
The PDGene database
is supported by a grant from
The Michael J. Fox Foundation
in partnership with the
Alzheimer Research Forum
.
NCRAD
The National Cell Repository for Alzheimer Disease seeks to recruit 1,000 families with two or more living brothers or sisters who have been diagnosed with late onset Alzheimer’s disease.
ALSGene
AlzGene
MSGene
PDGene
SZGene
An up-to-date collection of all published genetic association studies.