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Gene overview of all published PD-association studies for GBA
Gene:
GBA
(GCB; GBA1; GLUC)
View on AlzGene
Protein:
glucocerebrosidase
(glucocerebrosidase (alt.); lysosomal glucocerebrosidase; D-glucosyl-N-acylsphingosine glucohydrolase)
Chromosome:
1
(View:
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
X
Y
MT
)
Status:
Updated 17 December 2012
1. Case-Control Studies (by ethnic group)
PD Cases
Normal Controls
Study
Population
Source
# Polys
# Subjects
(% women)
DX
Onset Age
(range)
Age
(range)
# Subjects
(% women)
Age
(range)
Result
Caucasian
Aharon-Peretz, 2004
Israel
CL
1
(detail)
99
(44%)
C
-
-
1543
(-)
-
Trend
Bras, 2007
Overlaps with
Sidransky, 2009 (Portugal)
CL
2
(detail)
230
(-)
C
-
-
430
(-)
-
Positive
Clark, 2005
Overlaps with
Clark, 2007
CL
1
(detail)
160
(38%)
C
59 + 12.4
(-)
66.5 + 10.5
(-)
92
(41%)
69.6 + 9.6
(-)
n.a.
Clark, 2007
USA
CL
2
(detail)
278
(37%)
C
-
65.6 + 11.3
(-)
179
(44%)
64.9 + 11.3
(-)
Positive
De Marco, 2008
Italy
CL
1
(detail)
395
(38%)
C
60.3 + 10.2
(-)
66.4 + 9.1
(-)
483
(63%)
56.9 + 17.3
(-)
Positive
Do, 2011
USA (23andMe-GWAS)
CL
1
(detail)
3426
(40%)
M
57.4 + 10.7
(-)
64.3 + 10.6
(-)
29624
(42%)
48.2 + 16
(-)
Positive
Emelyanov, 2011
Russia
CL
1
(detail)
330
(-)
C
-
63.8 + 9.8
(-)
240
(-)
67.7 + 8.8
(-)
Positive
Fung, 2006
Overlaps with
Simon-Sanchez, 2009 (USA)
CL
2
(detail)
267
(-)
C
-
-
270
(-)
68
(55-88)
n.a.
Gan-Or, 2008
Israel
CL
1
(detail)
420
(38%)
C
59.4 + 11.3
(21-94)
67.9 + 10.2
(41-96)
4138
(-)
-
Positive
Lesage, 2010
France
CL
2
(detail)
1130
(-)
C
-
-
391
(-)
-
Positive
Lwin, 2004
USA
CL
2
(detail)
56
(-)
N
-
76
(54-99)
44
(-)
70
(-)
Trend
Mata, 2008
Overlaps with
Sidransky, 2009 (USA)
CL
1
(detail)
721
(25%)
C
58.2 + 12
(-)
67.1 + 11
(-)
554
(64%)
65.3 + 12.5
(-)
n.a.
Moraitou, 2011
Greece
CL
1
(detail)
205
(52%)
C
-
64.2
(37-88)
206
(-)
66.8 + 114
(40-95)
Positive
Neumann, 2009
UK
CL
1
(detail)
790
(22%)
M
58.7 + 12.3
(-)
-
257
(-)
53
(-)
Positive
Nichols, 2008
Overlaps with
Pankratz, 2008 (USA-PROGENI)
CL
2
(detail)
450
(-)
C
-
-
359
(56%)
70.3
(55-92)
Positive
Pankratz, 2008
USA (PROGENI, GenePD)
CL
3
(detail)
857
(41%)
C
61.9 + 10.8
(-)
-
867
(60%)
54.8 + 13.1
(-)
Negative
Sato, 2005
Canada
CL
1
(detail)
88
(41%)
C
41.2 + 12.9
(14-72)
58.4 + 13.7
(-)
122
(59%)
65 + 8.6
(47-80)
Positive
Sidransky, 2009
Overlaps with
Toft, 2006 (Norway)
CL
1
(detail)
311
(40%)
C
-
-
473
(44%)
64.1
(-)
n.a.
Sidransky, 2009
Overlaps with
Sato, 2005 (Canada)
CL
1
(detail)
88
(42%)
C
-
55
(-)
96
(72%)
69.6
(-)
n.a.
Sidransky, 2009
Overlaps with
De Marco, 2008 (Italy)
CL
1
(detail)
395
(38%)
C
-
66.5
(-)
483
(63%)
56.9
(-)
n.a.
Sidransky, 2009
Portugal
CL
2
(detail)
231
(52%)
C
-
65.3
(-)
482
(-)
65.5
(-)
n.a.
Sidransky, 2009
Germany (Tuebingen)
CL
1
(detail)
377
(41%)
C
-
64.8
(-)
325
(41%)
58.3
(-)
n.a.
Sidransky, 2009
Germany (Rostock)
CL
2
(detail)
298
(36%)
C
-
64.3
(-)
212
(50%)
74.5
(-)
Trend
Sidransky, 2009
France
CL
1
(detail)
297
(38%)
C
-
57.8
(-)
251
(43%)
57.8
(-)
Positive
Simon-Sanchez, 2009
USA, Germany (GWAS)
CL,PO
2
(detail)
1745
(45%)
C
55.8
(7-98)
-
4047
(50%)
-
Negative
Simon-Sanchez, 2009
USA (NINDS-GWAS)
CL
1
(detail)
931
(40%)
C
-
-
790
(58%)
-
Negative
Sutherland, 2009
Australia
CL
2
(detail)
331
(51%)
C
60.1 + 10.6
(-)
70.3 + 8.7
(-)
296
(51%)
70.5 + 8.9
(-)
Negative
Toft, 2006
Norway
CL
1
(detail)
311
(40%)
C
59 + 10.9
(31-88)
-
474
(-)
60.5
(-)
Negative
Asian
Hu, 2010
China
CL
1
(detail)
328
(46%)
C
52.6 + 11.8
(-)
-
300
(-)
-
Trend
Sidransky, 2009
Taiwan
CL
2
(detail)
559
(46%)
C
-
69.1
(-)
377
(47%)
60.5
(-)
Negative
Sidransky, 2009
Singapore
CL
1
(detail)
329
(48%)
C
-
70.3
(-)
201
(51%)
64.2
(-)
Negative
Sidransky, 2009
Japan
CL
2
(detail)
534
(47%)
C
-
65.3
(-)
546
(46%)
44.8
(-)
Negative
Sun, 2010
China
CL
1
(detail)
402
(40%)
C
54.7 + 12.1
(8-79)
-
413
(-)
-
n.a.
Other/Mixed
Eblan, 2006
Venezuela
CL
1
(detail)
33
(-)
C
36
(24-50)
36
(-)
31
(-)
-
Positive
Lesage, 2011
Algeria, Morocco, Tunisia, Libya
CL
3
(detail)
194
(48%)
C
50.9 + 12.9
(12-78)
58.8 + 13.3
(14-83)
177
(61%)
49.5 + 14.5
(19-84)
Positive
Nishioka, 2009
Tunisia
CL
2
(detail)
240
(52%)
C
57.1 + 13
(-)
-
372
(49%)
58.3 + 11
(-)
Negative
Santos, 2010
Brazil
CL
1
(detail)
110
(33%)
C
41.2 + 8
(-)
52.6 + 10.8
(-)
155
(47%)
62.7 + 9.4
(-)
Positive
Sidransky, 2009
USA (Seattle)
CL
2
(detail)
811
(25%)
C
-
66.9
(-)
518
(63%)
65.2
(-)
Positive
Sidransky, 2009
Overlaps with
Gan-Or, 2008 (Israel)
CL
1
(detail)
420
(38%)
C
-
68
(-)
321
(50%)
65.3
(-)
n.a.
Sidransky, 2009
USA (NHGRI)
CL
2
(detail)
539
(31%)
C
-
73.5
(-)
209
(52%)
67.6
(-)
Trend
Sidransky, 2009
Overlaps with
Clark, 2007 (USA)
CL
2
(detail)
275
(38%)
C
-
65.6
(-)
140
(48%)
62.8
(-)
n.a.
Sidransky, 2009
Brazil
CL
1
(detail)
65
(35%)
C
-
54.1
(-)
264
(36%)
54.4
(-)
n.a.
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.
2. Family-Based Studies (by ethnic group)
Affecteds
Unaffecteds
Study
Population
# Polys
# Families
# Subjects
(% women)
DX
Onset Age
(range)
Age
(range)
# Subjects
(% women)
Age
(range)
Result
Caucasian
Lesage, 2010
Overlaps with
Lesage, 2010 (CC)
2
(detail)
21
-
C
-
-
50
(-)
-
Positive
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.
Source:
Source of case population -> “CL” (clinic-based), “PO” (population-based), or “CO” (community-based).
# Polys:
Number of polymorphisms tested per gene and per sample.
Onset Age and Age:
Mean or median age at onset or examination, respectively.
DX:
Criteria used to determine PD diagnosis -> "C" (clinical PD diagnosis), "N" (neuropathological PD diagnosis), "M" (mixed, i.e. PD sample contains both clinical and neuropathological cases), "U" (unknown).
Result:
Overall conclusion reached by authors of the original publication (“positive” usually indicates significant (P<0.05) association in at least one of the performed analyses, and “negative” indicates no evidence for significant association, while “trend” indicates results in between).
(-)
: Either no data provided or in case of overlap, data included in original study.
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Studies: 881
Genes: 915
Polymorphisms: 3446
Meta-analyses: 889
GEO-PD Meeting 2012
PDmutDB
Curated by the VIB Department of Molecular Genetics of the University of Antwerp
Parkinson's disease Mutation Database
Curated by Parkinson's Institute from Leiden University Medical Center
Mutation Database for Parkinson's Disease
Curated by the Institute for Infocomm Research in Singapore
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