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MSGene - Gene overview of all published MS-association studies for CTLA4
Gene:
CTLA4
(CD; CD152; CELIAC3; CTLA-4; GSE; IDDM12)
View on SZGene
Protein:
cytotoxic T-lymphocyte-associated protein 4
(celiac disease 3; cytotoxic T-lymphocyte-associated antigen 4; cytotoxic T-lymphocyte-associated serine esterase-4; ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4)
Chromosome:
2
(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 25 November 2011
1. Case-Control Studies (by ethnic group)
MS Cases
Normal Controls
Study
Population
Source
# Polys
# Subjects
(% women)
DX
Onset Age
(range)
Age
(range)
# Subjects
(% women)
Age
(range)
Result
Caucasian
Aulchenko, 2008
Netherlands (GWAS)
CL
1
(detail)
45
(-)
O/M
-
-
195
(-)
-
Negative
Baranzini, 2008
USA, Netherlands, Switzerland (GWAS)
CL
2
(detail)
978
(67%)
MD1&2
34
(11-61)
47
(21-69)
883
(66%)
46
(21-69)
Negative
Bilinska, 2004
Poland
CL
1
(detail)
152
(66%)
P
30 + 7
(-)
38 + 9
(-)
154
(-)
-
Positive
Bocko, 2003
Overlaps with
Bilinska, 2004
CL
1
(detail)
102
(-)
P
-
39
(19-61)
101
(-)
-
n.a.
Castelli, 2007
Italy (I)
CL
2
(detail)
52
(-)
MD1
-
-
87
(-)
-
Negative
Cizmarevic, 2011
Croatia, Slovenia
CL
1
(detail)
367
(72%)
MD2
29.7 + 8.9
(-)
44.5 + 12.2
(-)
480
(-)
-
Negative
Dincic, 2006
Serbia
CL
1
(detail)
162
(62%)
MD1
29.9 + 9.3
(-)
36.5 + 10.7
(-)
103
(43%)
51.3 + 13.2
(-)
Positive
Favorova, 2006
Russia
CL
1
(detail)
286
(62%)
MD1
23 + 9
(-)
33 + 12
(-)
362
(44%)
30 + 11
(-)
Positive
Greve, 2007
Germany
CL
2
(detail)
227
(-)
O/M
-
-
473
(-)
-
Negative
Greve, 2007
Hungary
CL
2
(detail)
206
(-)
O/M
-
-
141
(-)
-
Negative
Greve, 2007
Poland
CL
2
(detail)
188
(-)
O/M
-
-
190
(-)
-
Negative
Harbo, 1999
Overlaps with
Lorentzen, 2005
CL
2
(detail)
296
(-)
P
-
-
271
(-)
-
Positive
Heggarty, 2007
UK (Northern Ireland)
CL
4
(detail)
330
(33%)
P
31.5 + 9.7
(-)
-
158
(54%)
-
Positive
IMSGC, 2007
USA, UK (GWAS)
CL,PO
3
(detail)
931
(75%)
MD1&2
27.8
(10-51)
38.6
(17-59)
2431
(-)
-
Negative
Kantarci, 2003
USA (Boston)
CL
3
(detail)
94
(69%)
O/M
-
-
37
(49%)
-
Positive
Kantarci, 2003
USA (Olmsted)
CL,PO
4
(detail)
122
(-)
U
-
-
244
(-)
-
Positive
Karabon, 2009
Poland
CL
5
(detail)
230
(64%)
P
30 + 7.6
(-)
39 + 10
(-)
380
(-)
-
Positive
Ligers, 1999
Overlaps with
Masterman, 2002
CL
3
(detail)
378
(69%)
P
-
48
(-)
237
(46%)
-
Positive
Lorentzen, 2005
Norway
CL
5
(detail)
575
(-)
P
-
-
551
(-)
-
Negative
Luomala, 2003
Finland
CL
1
(detail)
116
(58%)
P
-
46 + 10
(24-78)
109
(-)
46 + 10
(23-78)
Negative
Maeurer, 2002
Germany
CL
1
(detail)
330
(-)
U
-
39.7 + 10.7
(17-71)
152
(-)
-
Positive
Malferrari, 2005
Italy
CL
2
(detail)
95
(-)
U
-
-
104
(-)
-
Positive
Masterman, 2002
Sweden (I)
CL
2
(detail)
341
(-)
P
-
-
237
(-)
-
Negative
Masterman, 2002
Sweden (II)
CL
2
(detail)
374
(-)
P
-
-
290
(-)
-
Negative
Mkhikian, 2011
USA (I)
CL
1
(detail)
1201
(-)
MD1
-
-
1493
(-)
-
Negative
Mkhikian, 2011
USA (II)
CL
1
(detail)
2080
(-)
U
-
-
7060
(-)
-
Negative
Motsinger, 2007
USA
CL
2
(detail)
421
(-)
MD1
-
-
96
(-)
-
Negative
Palacios, 2008
Spain, Portugal
CL
17
(detail)
146
(65%)
MD2
-
40.7 + 10.1
(-)
152
(55%)
43.7 + 18.3
(-)
Negative
Teutsch, 2004
Australia
CL
2
(detail)
129
(-)
P
-
-
152
(-)
-
Trend
van Veen, 2003
Netherlands
CL
2
(detail)
514
(62%)
P
32 + 9
(-)
46 + 11
(-)
181
(54%)
37
(-)
Negative
Wray, 2008
Australia
CL
1
(detail)
198
(-)
P
-
-
224
(-)
-
Negative
African Descent
Barcellos, 2006
USA
CL
1
(detail)
518
(-)
U
-
-
234
(-)
-
Negative
Brassat, 2006
USA
CL
2
(detail)
442
(-)
MD1
-
-
293
(-)
-
Negative
Mkhikian, 2011
USA (III)
CL
1
(detail)
758
(-)
U
-
-
480
(-)
-
Negative
Asian
Fukazawa, 1999
Overlaps with
Fukazawa, 2005
CL
1
(detail)
74
(74%)
P
25 + 8.8
(15-48)
36.4 + 11.2
(16-58)
93
(66%)
34.7 + 9.9
(21-58)
n.a.
Fukazawa, 2005
Japan
CL
2
(detail)
133
(68%)
O/M
27.1 + 9.6
(4-57)
35 + 10.7
(14-67)
156
(67%)
33.5 + 9.2
(20-58)
Negative
Rasmussen, 2001
China
CL
2
(detail)
42
(-)
P
-
-
86
(-)
-
Positive
Other/Mixed
Borhani Haghighi, 2008
Iran
CL
1
(detail)
100
(78%)
P
-
32.2
(-)
100
(82%)
33.2
(-)
Negative
Heidari, 2010
Iran
CL
3
(detail)
135
(67%)
P
23.6
(-)
29.5
(-)
135
(-)
-
Negative
Stuart, 2007
USA
CL
1
(detail)
159
(74%)
U
-
-
63
(44%)
-
Negative
Yousefipour, 2009
Iran
CL
4
(detail)
153
(77%)
P
-
30 + 8.3
(-)
190
(61%)
55.3 + 12.1
(-)
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
Alizadeh, 2003
France
2
(detail)
411
411
(-)
P
-
-
822
(50%)
-
Positive
Alizadeh, 2003
Italy, Portugal
1
(detail)
199
199
(-)
P
-
-
398
(50%)
-
Positive
Barcellos, 2004
Overlaps with
Motsinger, 2007 (CC)
2
(detail)
337
337
(-)
U
-
-
-
-
Negative
Barcellos, 2006
USA multiplex
1
(detail)
176
386
(-)
U
-
-
1107
(-)
-
Positive
Barcellos, 2006
USA simplex
1
(detail)
537
537
(-)
U
-
-
1085
(-)
-
Negative
Bonetti, 2004
Finland
4
(detail)
134
-
P
-
-
-
-
Negative
Dyment, 2002
Canada
2
(detail)
185
-
U
-
-
-
-
Negative
Kantarci, 2003
USA
3
(detail)
59
141
(-)
U
-
-
254
(-)
-
Positive
Ligers, 1999
Sweden
3
(detail)
31
-
P
-
-
-
-
Positive
Motsinger, 2007
Overlaps with
Motsinger, 2007 (CC)
2
(detail)
275
-
MD1
-
-
-
-
Negative
Roxburgh, 2006
UK
7
(detail)
771
-
P
-
30.9
(-)
-
-
Negative
Suppiah, 2005
Belgium
2
(detail)
120
120
(61%)
P
28 + 8
(-)
-
240
(50%)
-
Positive
Teutsch, 2004
Australia
1
(detail)
87
-
P
-
-
-
-
Negative
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 MS diagnosis -> "P" (Poser criteria, 1983), "MD1" (McDonald criteria, 2001), "MD2" (revised McDonald criteria, 2005), "MD1&2" (McDonald criteria, 2001 and 2005), "O/M" (other/mixed), "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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