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Overview of all published large-scale and genome-wide association studies in PD
Status:
Updated 11 February 2013
; **
See Large Scale Study Methods
**
GWAS (genome-wide association studies)
PD 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
Caucasian
Do, 2011
CC
GWAS
GWAS: 23andMe, REP: IPDGC
CL
Illumina HumanHap550+
522,782
No
M
3426
6584
29624
15470
FAM47E
GBA
GWA_21q21.1
IMP5
MCCC1
RIT2
SLC41A1
SNCA
SREBF1
TMEM175
Edwards, 2010
CC
GWAS, and joint analysis of NINDS, CIDR, HIHG
USA (HIHG)
CL
Illumina Infinium610/1M-Duo/HumanHap550
491,376
No
C
604
-
619
-
PLEKHM1
SNCA
Submit comment
Fung, 2006
CC
GWAS
USA (NINDS)
CL
Illumina Human I & HumanHap300
408,803
Yes
C
267
-
270
-
BRDG1
DLG2
GLT25D2
GWA_10q11.21
GWA_16q23.1
GWA_22q13.31
GWA_4q35.2
GWA_7p12.2
NEGR1
OR8U8
ULK2
ZNF313
Submit comment
Hamza, 2010
CC
GWAS
USA (NGRC)
CL
Illumina HumanOmni1-Quad
811,597
Yes
C
2000
-
1986
-
GAK
HLA-DRA
MAPT/STH
SNCA
Submit comment
Liu, 2011
CC
GWAS
GWAS: USA (Ashkenazi), REP: NINDS,PROGENI/GenePD
CL
Illumina Human 610/660-quad
525,124
No
C
268
1782
178
1658
 
Maraganore, 2005
CC, FBAT
GWAS
USA
CL
Perlegen 250K hap-tag
198,345
Yes
C
443
332
443
332
CDCP2
GALNT3
GWA_10q21.1
GWA_2q36.3
GWA_4q28.1
GWA_4q28.3
GWA_5p15.32
GWA_7p14.2
PASD1
PRDM2
SEMA5A
Submit comment
Pankratz, 2008
* Recently Updated *
CC
GWAS
USA (PROGENI,GenePD-CIDR)
CL
Illumina HumanCNV370
328,189
Yes
C
857
-
867
-
CRHR1
DGKQ
GAK
IMP5
MAPT/STH
MMRN1
PLEKHM1
SNCA
Submit comment
Saad, 2010
CC
GWAS
France, UK (WTCCC), Australia
CL,PO
Illumina Human610-Quad
492,929
No
C
1039
3232
1984
7064
BST1
GWA_12q23.3
SNCA
Submit comment
Simon-Sanchez, 2009
* Recently Updated *
CC
GWAS
USA, Germany, UK
CL,PO
Illumina HumanHap240S/300/550
463,185
Yes
M
1745
3452
4047
4756
LRRK2
MAPT/STH
NUCKS1
SNCA
Submit comment
Simon-Sanchez, 2011
CC
GWAS
Netherlands
CL,PO
Illumina Human660-Quad/Human610
514,799
No
U
772
-
2024
-
BST1
BTNL2/C6orf10
MAPT/STH
PCGF3
SNCA
Submit comment
Spencer, 2010
CC
GWAS
UK (WTCCC2), France
CL,PO
Illumina Human660-Quad/1.2MDuo
1,733,533
Yes
C
1705
1039
5175
1984
MAPT/STH
SNCA
Submit comment
Srinivasan, 2009
CC
GWAS
USA
CL
MegAllele 20K cSNP
14,111
No
C
187
-
187
-
PATHWAY1
PATHWAY2
PATHWAY3
Asian
Satake, 2009
CC
GWAS
Japan
CL
Illumina HumanHap550
435,470
No
C
1078
933
2628
15753
BST1
LRRK2
NUCKS1
PM20D1
SLC41A1
SLC45A3
SNCA
Submit comment
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
PD 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
Caucasian
Allen, 2009
CC
GWAS re-analysis
Fung, 2006
CL
See primary study
391,787
No
-
-
-
-
-
CAST
Submit comment
Allen, 2010
CC
GWAS re-analysis
Pankratz, 2008
CL
See primary study
334,225
No
-
-
-
-
-
CAST
Submit comment
Bertoli-Avella, 2006
CC, FBAT
GWAS (STRs)
Netherlands
CL
STRs (customized)
56
No
C
45
62
25
568
GWA_14q32.2
GWA_9q34.3
Broer, 2011
CC
Analysis of HSP10, 60, 70, 90 and HSF families
Netherlands (Rotterdam-GWAS)
PO
Illumina HumanHap550
3,828
No
U
123
-
5422
-
 
Edwards, 2011
CC
GWAS re-analysis
Fung, 2006, Pankratz, 2008, Edwards, 2011
CL
See primary studies
5,000
No
-
-
-
-
-
PATHWAY1
PATHWAY6
PATHWAY7
Evangelou, 2007
CC, FBAT
GWAS re-analysis
Maraganore, 2005 and Fung, 2006
CL
See primary studies
32,192
No
-
-
-
-
-
GWA_11q21
TPRG1
UNC5C
Submit comment
Foltynie, 2005
CC
GWAS (STRs, pooled)
UK
CL,PO
STRs (customized)
5,546
No
C
195
179
219
1695
GWA_1p31.3
Hamza, 2011
CC
GWAIS (coffee)
GWAIS: Hamza, 2010, REP: USA (PEG, PAGE, HIHG)
CL,PO
See primary study
811,597
Yes
C
1458
1014
931
1917
GRIN2A
IPDGC, 2011
CC
GWAS-meta-analysis, and follow-up
GWAS: Pankratz, 2008, Simon-Sanchez, 2009, Spencer, 2010, Saad, 2010, REP: Europe&USA
CL,PO
See primary studies
7,689,524
No
U
5333
7053
12019
9007
ACMSD/TMEM163
BST1
CCDC62/HIP1R
GAK
HLA-DRB5
LRRK2
MAPT/STH
MCCC1
SNCA
STK39
SYT11/RAB25
Submit comment
IPDGC, 2011
CC
Follow-up II of previous GWAS meta-analysis (IPDGC, 2011)
GWAS: Pankratz, 2008, Simon-Sanchez, 2009, Spencer, 2010, Saad, 2010, REP: Europe&USA&23andMe
See primary studies
7,689,524
No
U
5333
3426
10479
38631
FAM47E
GPNMB
GWA_8p22
RAB7L1
SETD1A
Lesnick, 2007
CC, FBAT
GWAS re-analysis
Maraganore, 2005 and Fung, 2006
CL
See primary studies
198,345
No
-
-
-
-
-
PATHWAY1
Simon-Sanchez, 2007
CC
GWAS re-analysis
Fung, 2006
CL
See primary study
408,000
No
-
-
-
-
-
PARK2
Submit comment
Wan, 2009
CC
GWAS re-analysis
Fung, 2006
CL
See primary study
n.g.
No
-
-
-
-
-
GWA_2q36.3
INS-IGF2
ZNF313
Submit comment
Wang, 2007
CC, FBAT
GWAS re-analysis
Maraganore, 2005 and Fung, 2006
CL
See primary studies
n.g.
No
-
-
-
-
-
PATHWAY4
PATHWAY5
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); “STRs” (short tandem repeats).
Source:
Source of case population -> “CL” (clinic-based), “PO” (population-based).
Platform:
Please refer to orignal publication for exact description. “cSNP” (coding-region SNP).
# SNPs:
Approximate number of polymorphisms covered.
DX:
Criteria used to determine PD diagnosis -> "C" (clinical PD diagnosis), "N" (neuropathological PD diagnosis), "M" (mixed, e.g. PD sample contains both clinical and neuropathological cases), "U" (unknown).
Featured Genes:
Dropdown menu of genes highlighted (“featured”) in original publication as potential PD susceptibility genes/loci after completion of all analyses, e.g. replication in multiple samples.
(-)
: No information provided/not applicable.
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