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Gene overview of all published PD-association studies for UCHL1
Gene:
UCHL1
(Uch-L1; PARK5; PGP9.5)
View on AlzGene
Protein:
ubiquitin carboxyl-terminal esterase L1
(ubiquitin thiolesterase)
Chromosome:
4
(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 2 October 2011
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
Carmine, 2007
Sweden
CL
1
(detail)
296
(-)
C
60
(-)
68
(-)
235
(-)
57
(-)
Positive
Chung, 2010
USA
CL
11
(detail)
449
(35%)
-
64.7
(23-88)
70.3
(44-90)
449
(35%)
71.8
(45-93)
Trend
Elbaz, 2003
France
CO
1
(detail)
209
(43%)
C
65
(35-75)
68
(37-75)
488
(41%)
68
(36-79)
Positive
Facheris, 2005
Overlaps with
Chung, 2010 (USA)
CL
1
(detail)
70
(-)
C
-
-
70
(-)
-
n.a.
Fung, 2006
Overlaps with
Simon-Sanchez, 2009 (USA-NINDS)
CL
1
(detail)
267
(-)
C
-
-
270
(-)
68
(55-88)
n.a.
Healy, 2006
UK, Ireland
CL
3
(detail)
1536
(-)
M
58.3
(-)
-
1487
(-)
56.1
(-)
Negative
Hutter, 2007
USA
CL
1
(detail)
1757
(32%)
C
58.7 + 11.6
(-)
68 + 10.5
(-)
2016
(63%)
67.4 + 18.2
(-)
Negative
Levecque, 2001
France
CL
1
(detail)
114
(53%)
C
58.7 + 11.3
(-)
66.5 + 10.6
(-)
93
(51%)
66.9 + 9.5
(-)
Negative
Maraganore, 1999
Overlaps with
Chung, 2010 (USA)
CL
1
(detail)
139
(35%)
C
62
(31-82)
69
(39-91)
113
(65%)
72
(37-90)
n.a.
Maraganore, 2003
Overlaps with
Chung, 2010 (USA)
CL
1
(detail)
298
(38%)
C
63.4
(31-85)
69.8
(33-99)
185
(63%)
72.1
(37-94)
n.a.
McCulloch, 2008
Overlaps with
Hutter, 2007 (USA-Washington)
CL
1
(detail)
391
(26%)
C
-
67.3
(32-95)
293
(58%)
67.3
(30-93)
n.a.
McCulloch, 2008
Overlaps with
Hutter, 2007 (USA-Oregon)
CL
1
(detail)
172
(38%)
C
-
65.9
(39-87)
96
(55%)
67.8
(21-83)
n.a.
McCulloch, 2008
Overlaps with
Hutter, 2007 (USA-NY)
CL
1
(detail)
253
(35%)
C
-
68.1
(40-95)
214
(66%)
64.6
(34-94)
n.a.
McCulloch, 2008
Overlaps with
Hutter, 2007 (USA-Georgia)
CL
1
(detail)
116
(37%)
C
-
67.3
(40-97)
61
(67%)
68.5
(51-84)
n.a.
Mellick, 2000
Australia
CL
1
(detail)
142
(51%)
C
59 + 11
(32-83)
66 + 11
(37-85)
142
(51%)
66 + 10
(39-86)
Negative
Pankratz, 2008
USA (PROGENI, GenePD)
CL
13
(detail)
857
(41%)
C
61.9 + 10.8
(-)
-
867
(60%)
54.8 + 13.1
(-)
Negative
Savettieri, 2001
Italy
CL
1
(detail)
169
(41%)
C
59
(37-84)
67
(43-87)
165
(55%)
73
(60-96)
Negative
Simon-Sanchez, 2009
USA (NINDS-GWAS)
CL
12
(detail)
931
(40%)
C
-
-
790
(58%)
-
Negative
Simon-Sanchez, 2009
USA, Germany (GWAS)
CL,PO
1
(detail)
1745
(45%)
C
55.8
(7-98)
-
4047
(50%)
-
Negative
Sutherland, 2009
Australia
CL
3
(detail)
331
(51%)
C
60.1 + 10.6
(-)
70.3 + 8.7
(-)
296
(51%)
70.5 + 8.9
(-)
Trend
Wintermeyer, 2000
Germany
CL
1
(detail)
229
(44%)
C
-
66.3 + 10.8
(-)
200
(48%)
72 + 4.3
(-)
Positive
Xiromerisiou, 2011
Greece
CL
5
(detail)
399
(42%)
U
65 + 9.6
(-)
69.4 + 8.7
(-)
420
(45%)
69 + 12.8
(-)
Negative
Zhang, 2000
USA
CL
1
(detail)
153
(-)
M
60.6 + 8.8
(-)
-
142
(-)
72.5
(-)
Negative
Asian
Mizuta, 2006
Overlaps with
Mizuta, 2008
CL
4
(detail)
882
(56%)
C
57.4 + 10.9
(-)
64.9 + 9.8
(-)
938
(48%)
45.3 + 16.3
(-)
Negative
Mizuta, 2008
Japan
CL
1
(detail)
882
(56%)
C
57.4 + 10.9
(-)
64.9 + 9.8
(-)
938
(48%)
45.6 + 16.3
(-)
Negative
Momose, 2002
Overlaps with
Mizuta, 2008
CL
1
(detail)
232
(51%)
C
54.1 + 10.5
(24-80)
-
249
(49%)
-
n.a.
Satoh, 2001
Japan
CL
1
(detail)
74
(62%)
C
-
69 + 8.8
(46-86)
155
(49%)
66.4 + 11.8
(40-88)
Positive
Snapinn, 2011
Japan, USA
CL,PO
1
(detail)
605
(57%)
C
61 + 10.8
(-)
67.1 + 10.3
(-)
1620
(55%)
70.3 + 6.9
(-)
Trend
Tan, 2006
Overlaps with
Tan-Singapore (Tan), 2009
CL
1
(detail)
335
(44%)
C
61 + 11
(-)
65 + 10
(30-89)
341
(47%)
61 + 11
(26-93)
n.a.
Tan, 2009
China (Lu)
CL
1
(detail)
608
(-)
C
-
-
386
(-)
-
Negative
Tan, 2009
China (Robin)
CL
1
(detail)
252
(-)
C
-
-
231
(-)
-
Negative
Tan, 2009
China (Peng)
CL
1
(detail)
600
(-)
C
-
-
334
(-)
-
Negative
Tan, 2009
Singapore (Tan)
CL
1
(detail)
441
(-)
C
-
-
449
(-)
-
Trend
Tan, 2009
Overlaps with
Wu, 2010
CL
1
(detail)
242
(-)
C
-
-
363
(-)
-
n.a.
Toda, 2003
Overlaps with
Mizuta, 2008
CL
1
(detail)
232
(51%)
C
54.1 + 10.5
(24-80)
-
249
(49%)
-
n.a.
Wang, 2002
China
CL
1
(detail)
160
(44%)
C
58.8 + 12.6
(30-82)
66.8 + 11.2
(34-86)
160
(44%)
65.9 + 12.8
(34-86)
Positive
Wang, 2011
China
CL
1
(detail)
408
(43%)
C
53.7 + 11.7
(9-78)
54.3 + 12.2
(10-79)
398
(45%)
50.4 + 15.8
(8-83)
Negative
Wu, 2010
Taiwan
CL
1
(detail)
517
(44%)
C
62.7 + 11.3
(19-86)
-
518
(48%)
59 + 13.3
(28-94)
Positive
Zhang, 2000
Japan
CL
1
(detail)
160
(-)
C
55.4 + 10.7
(-)
-
160
(-)
58.1
(-)
Positive
Zhang, 2008
Overlaps with
Tan-China (Peng), 2009
CL
1
(detail)
600
(41%)
C
55.9 + 11.6
(20-85)
-
334
(46%)
53.5 + 13.7
(24-91)
n.a.
Other/Mixed
Benitez, 2010
Colombia
CL
1
(detail)
104
(49%)
C
53.7 + 13.4
(-)
60.1 + 12.6
(-)
136
(54%)
62.4 + 9.5
(-)
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.
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
Chung, 2010
USA
11
(detail)
654
(36%)
C
60.4
(28-87)
66.3 + 30.8
(-)
654
(50%)
65.1
(32-90)
Trend
Facheris, 2005
Overlaps with
Maraganore, 1999
1
(detail)
427
(-)
C
-
-
427
(-)
-
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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