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AlzGene - Gene overview of all published AD-association studies for PSEN1
Gene:
PSEN1
(AD3; FAD; PS1; S182)
View on ALSGene
View on SZGene
Protein:
presenilin 1
Chromosome:
14
(View:
1
2
3
4
5
6
7
8
9
10
11
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13
14
15
16
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18
19
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22
X
Y
MT
)
Status:
Updated 18 April 2011
1. Case-Control Studies (by ethnic group)
AD Cases
Normal Controls
Study
Population
Source
# Polys
# Subjects
(% women)
DX
Onset Age
(range)
Age
(range)
# Subjects
(% women)
Age
(range)
Result
Comment
Caucasian
Albani, 2006
Italy
CL
1
(detail)
301
(-)
U
71.3 + 6.2
(-)
-
632
(-)
72 + 6.2
(-)
Positive
Aldudo, 1997
Overlaps with
Martinez-Garcia, 2008
CL
1
(detail)
114
(-)
C
68 + 5
(-)
-
156
(-)
72 + 7
(-)
n.a.
Aldudo, 1998
Spain
1
(detail)
120
(-)
U
-
-
66
(-)
-
Negative
Araria-Goumidi, 2002
France
CL
1
(detail)
406
(63%)
C
73 + 5.7
(-)
75.9 + 5.9
(-)
305
(63%)
75.7 + 7.9
(-)
Negative
Bagli, 1999
Germany
1
(detail)
102
(68%)
C
-
74.4 + 10.3
(51-101)
191
(52%)
70.6 + 11.4
(50-100)
Negative
Belbin, 2008
UK
CL
8
(detail)
369
(51%)
M
71.6 + 9.2
(-)
-
329
(44%)
75.3 + 9.3
(-)
Positive
Blomqvist, 2005
Overlaps with
Emahazion, 2001
CL
1
(detail)
121
(58%)
C
-
57.8 + 6.3
(-)
165
(37%)
58.3 + 9.9
(-)
n.a.
Blomqvist, 2005
Overlaps with
Prince, 2001
CL
1
(detail)
819
(63%)
M
-
76.2 + 7.1
(-)
240
(59%)
73.2 + 9.3
(-)
n.a.
Brookes, 1997
Scotland
CL
1
(detail)
81
(58%)
M
-
58.8 + 5.1
(41-65)
152
(38%)
58 + 9.9
(31-76)
Positive
Combarros, 1999
Spain
1
(detail)
211
(67%)
C
71.2 + 9.3
(40-95)
75 + 9.4
(50-98)
188
(70%)
79.6 + 8.1
(63-98)
Negative
Corder, 2008
Overlaps with
Blomqvist, 2005
CL
1
(detail)
938
(-)
U
-
-
397
(-)
-
n.a.
Cousin, 2009
France
CL
2
(detail)
428
(-)
C
64.9 + 9.9
(-)
-
475
(-)
66.2 + 10.8
(-)
Negative
Dermaut, 1999
Netherlands
PO
1
(detail)
-
C
-
-
256
(-)
-
Negative
Dermaut, 2001
Netherlands
PO
2
(detail)
356
(33%)
C
82.3 + 7.2
(-)
-
242
(60%)
81 + 4.9
(-)
Negative
Emahazion, 2001
Scotland
CL
1
(detail)
121
(-)
C
-
-
152
(-)
-
Negative
Ezquerra, 1997
Spain
CL
1
(detail)
174
(-)
C
64.3
(-)
-
147
(-)
66.4
(-)
Trend
Giedraitis, 2009
Sweden (ULSAM)
CL
2
(detail)
86
(0%)
C
80.2
(72-85)
-
404
(0%)
81.8
(80-84)
Negative
Helisalmi, 1997
Finland
CL
1
(detail)
219
(66%)
C
-
78 + 9
(-)
104
(85%)
71 + 10
(-)
Negative
Helisalmi, 2000
Finland
CL
1
(detail)
80
(-)
M
-
72 + 8.6
(45-90)
270
(-)
76 + 3
(47-98)
Positive
Kehoe, 1996 (I)
Same as Kehoe, 1996 (II)
0
-
C
-
-
-
-
n.a.
Kehoe, 1996 (II)
UK
CL
1
(detail)
299
(62%)
M
-
80.5 + 8.6
(-)
81
(52%)
76.2 + 6.2
(-)
Positive
Korovaitseva, 1997
Russia
CL
1
(detail)
130
(-)
C
64.6 + 5.4
(-)
-
110
(-)
60.9 + 8.2
(-)
Negative
Kowalska, 1998
Poland
CL
1
(detail)
97
(-)
C
74
(-)
-
43
(-)
-
Negative
Kowalska, 2004
Poland
1
(detail)
55
(-)
C
-
-
48
(-)
-
Negative
Lambert, 2001
UK
CL
1
(detail)
287
(51%)
M
63.1 + 10.4
(-)
67.1 + 13
(-)
482
(58%)
62.5 + 14.4
(-)
Positive
Lendon, 1997
Scotland
CL
1
(detail)
106
(56%)
M
57.6 + 6.6
(30-65)
68.1 + 7.4
(-)
171
(57%)
54.9 + 6.1
(40-65)
Negative
Li, 2008
Canada
CL
2
(detail)
753
(58%)
C
71.9 + 8.5
(-)
77.8 + 8.6
(-)
736
(64%)
73.4 + 7.9
(-)
Trend
Martinez-Garcia, 2008
Spain
CL
2
(detail)
599
(67%)
C
73.1 + 8.8
(-)
-
584
(57%)
71.4 + 13
(-)
Positive
Mattila, 1998
Finland
CL
1
(detail)
61
(74%)
M
76 + 4
(-)
-
59
(44%)
76 + 8.3
(-)
Negative
Papassotiropoulos, 2000 (II)
Overlaps with
Bagli, 1999
CL
1
(detail)
217
(62%)
C
-
72.6 + 9.7
(-)
434
(56%)
68.2 + 10.6
(-)
n.a.
Perez-Tur, 1996
France
CL
1
(detail)
147
(70%)
U
73
(-)
-
78
(67%)
81
(-)
Negative
Prince, 2001
Sweden
CL
1
(detail)
204
(61%)
M
-
-
186
(58%)
-
Negative
Reiman, 2007
USA, Netherlands
CL
1
(detail)
861
(-)
M
-
74.9 + 6.6
(-)
550
(-)
77.4 + 7.3
(-)
Negative
Rodriguez, 2000
Italy
CL
1
(detail)
121
(64%)
C
-
73.2
(-)
125
(68%)
79.6
(-)
Negative
Rodriguez, 2007
Spain
CL
1
(detail)
85
(51%)
C
-
75.6 + 5.9
(-)
86
(60%)
73.7 + 7.3
(-)
Positive
Scacchi, 1999
Italy
CO
1
(detail)
85
(76%)
C
-
86.1 + 3.8
(81-95)
156
(58%)
83.8 + 3.2
(74-99)
Negative
Singleton, 1997
UK
CL
1
(detail)
120
(-)
N
-
77.6 + 0.9
(-)
108
(-)
75.7 + 0.8
(-)
Negative
Singleton, 1997 (II)
Same as Singleton, 1997
0
-
N
-
-
-
-
n.a.
Sorbi, 1997
Italy
CL
1
(detail)
92
(-)
M
-
-
80
(-)
80.8 + 24.5
(26-108)
Negative
Taddei, 1998
Australia
CL
1
(detail)
261
(54%)
C
-
76.1
(34-95)
442
(50%)
75
(51-93)
Negative
Taddei, 2002
Australia
CL
1
(detail)
280
(56%)
C
-
74.8
(42-95)
402
(50%)
75
(50-92)
Positive
Theuns, 2000
Same as van Duijn, 1999
4
(detail)
-
C
-
-
-
-
n.a.
Tilley, 1999
UK
CL
1
(detail)
177
(62%)
N
-
81.6 + 8.6
(55-101)
118
(31%)
72.8 + 8.7
(58-94)
Positive
Tysoe, 1997
UK
CL,PO
1
(detail)
382
(61%)
M
-
80.2 + 7.1
(-)
215
(57%)
78.4 + 10.1
(-)
Negative
van Duijn, 1999
Netherlands
PO
4
(detail)
102
(-)
C
56.7 + 5.4
(-)
63 + 4.4
(-)
118
(-)
63 + 4.4
(-)
Positive
Wang, 1998
USA
CL
1
(detail)
427
(63%)
M
68.6 + 8.3
(-)
75.3 + 8.5
(-)
250
(54%)
66.7 + 7.8
(-)
Positive
Wragg, 1996
USA & Europe
CL
1
(detail)
240
(61%)
M
71.6 + 8.6
(-)
77.5 + 8.6
(-)
185
(58%)
76.2 + 11
(-)
Positive
Zekanowski, 2004
Poland
CL
3
(detail)
167
(65%)
C
65.5 + 5.7
(-)
-
222
(77%)
70.1 + 8.1
(-)
Negative
Zekanowski, 2004
Poland
CL
1
(detail)
256
(66%)
C
69.2 + 5.1
(-)
-
210
(77%)
71.2 + 6.7
(-)
Negative
African Descent
Wragg, 1996
USA
CL
1
(detail)
29
(76%)
M
71.8 + 5.2
(-)
77.2 + 9.6
(-)
50
(72%)
72 + 7.8
(-)
Negative
Asian
Cui, 2000
China
CL
1
(detail)
42
(48%)
C
-
74.4 + 14.1
(-)
108
(51%)
74.4 + 12.8
(-)
Positive
Higuchi, 1996
Japan
CL
1
(detail)
106
(-)
C
-
76
(-)
186
(-)
75
(-)
Positive
Hu, 1998
Taiwan
CL
1
(detail)
55
(49%)
C
-
76.3 + 6.4
(-)
93
(35%)
79.8 + 6.3
(-)
Negative
Isoe, 1996
Japan
CL
1
(detail)
131
(-)
C
-
75.5 + 7.6
(-)
101
(-)
62.8 + 14.7
(-)
Positive
Jia, 2006
China
CL
1
(detail)
467
(51%)
C
70.2 + 5.1
(-)
75.3 + 7.3
(-)
480
(52%)
75.1 + 7.8
(-)
Positive
Kim, 2000
Korea
CL
1
(detail)
100
(-)
C
-
70.4 + 7.6
(-)
199
(-)
67 + 7.5
(-)
Negative
Matsubara-Tsutsui, 2002
Japan
CL
4
(detail)
189
(-)
C
-
-
240
(-)
-
Positive
Matsushita, 1997
Same as Higuchi, 1996
0
-
C
-
-
-
-
n.a.
Nishiwaki, 1997
Japan
CL
1
(detail)
157
(67%)
U
71.2 + 6.2
(47-98)
-
339
(53%)
71.7 + 6.4
(52-101)
Trend
Sodeyama, 1997
Japan
CL
1
(detail)
36
(-)
N
-
-
86
(-)
-
Negative
Wu, 1999
China
CL
1
(detail)
91
(-)
C
69.2 + 8.6
(-)
-
73
(-)
68.6 + 6.3
(-)
Negative
Yamada, 1997
Overlaps with
Yamada, 2002
CL
1
(detail)
36
(-)
N
-
84.5 + 7.7
(-)
101
(-)
85.1 + 8
(-)
n.a.
Yamada, 2002
Japan
CL
1
(detail)
82
(-)
N
-
86.1 + 7.9
(62-104)
119
(-)
85.7 + 8
(65-103)
Negative
Yasuda, 1999
Japan
CL
1
(detail)
217
(73%)
C
69.1 + 5.6
(-)
72 + 5.7
(-)
217
(73%)
71.9 + 5.9
(-)
Negative
Hispanic
Arango, 2001
Colombia
CL
1
(detail)
76
(57%)
M
68.2 + 10.4
(30-88)
-
53
(-)
66.5 + 7.7
(50-87)
Positive
Other/Mixed
Cai, 1997
USA
CL,PO
1
(detail)
122
(-)
C
-
-
256
(-)
-
Negative
Chandak, 2002
India
PO
1
(detail)
49
(-)
C
-
71.9 + 7.9
(48-90)
100
(-)
73.3 + 8.3
(52-94)
Negative
Dursun, 2008
Turkey
CL
1
(detail)
107
(77%)
C
-
75.1 + 5.7
(65-94)
106
(55%)
73.6 + 7.3
(65-90)
Negative
Liao, 1999
USA
CL
1
(detail)
85
(-)
N
-
81.4 + 10.3
(-)
18
(-)
73.3 + 21.6
(-)
Negative
Pandey, 2007
India
CL
1
(detail)
14
(-)
C
-
-
162
(-)
61 + 8.5
(40-85)
n.a.
Scott, 1996
Same as Scott, 1997
0
-
U
-
-
-
-
n.a.
Scott, 1997
USA
CL
1
(detail)
609
(63%)
U
69.3 + 8.7
(-)
73.6 + 8.1
(-)
317
(53%)
79.6 + 8.8
(-)
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.
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
Comment
Other/Mixed
Romas, 2000
USA
1
(detail)
51
103
(-)
C
-
76.9
(-)
67
(-)
73.1
(-)
Negative
Schjeide, 2009
USA (CAG)
1
(detail)
217
222
(59%)
M
69.2 + 9
(50-89)
-
267
(63%)
72.9 + 8.8
(49-92)
Negative
Schjeide, 2009
USA (NCRAD)
1
(detail)
340
741
(74%)
M
71.3 + 7.6
(50-98)
-
300
(55%)
71 + 8.4
(39-93)
Negative
Schjeide, 2009
USA (NIA)
1
(detail)
351
803
(64%)
M
74.1 + 7.1
(52-98)
-
290
(59%)
73.3 + 9.5
(36-94)
Positive
Schjeide, 2009
USA (NIMH)
1
(detail)
436
995
(74%)
M
72.4 + 7.7
(50-97)
-
411
(58%)
70 + 10.7
(31-93)
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 AD diagnosis -> "C" (clinical AD diagnosis), "N" (neuropathological AD diagnosis), "M" (mixed, i.e. AD 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); results obtained in duplicate or largely overlapping samples are listed as "n.a.".
(-)
: Either no data provided or in case of overlap, data included in original study.
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APOE_e2/3/4
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3.
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4.
ABCA7
5.
CR1
6.
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7.
MS4A6A
8.
CD33
9.
MS4A4E
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CD2AP
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An up-to-date collection of all published genetic association studies.