AlzGene - Gene overview of all published AD-association studies for PSEN1
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 Gene: PSEN1  (AD3; FAD; PS1; S182)  Entrez Gene    View on ALSGene   View on SZGene
 Protein: presenilin 1   ProteinLink
 Chromosome: 14   (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 18 April 2011
Meta-Analysis
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
(-)
U71.3 + 6.2
(-)
-632
(-)
72 + 6.2
(-)
Positive
Aldudo, 1997
Overlaps with
Martinez-Garcia, 2008
CL  1  (detail)  114
(-)
C68 + 5
(-)
-156
(-)
72 + 7
(-)
n.a. 
Aldudo, 1998
Spain    1  (detail)  120
(-)
U--66
(-)
-Negative
Araria-Goumidi, 2002
France CL  1  (detail)  406
(63%)
C73 + 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%)
M71.6 + 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%)
C71.2 + 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
(-)
C64.9 + 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%)
C82.3 + 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
(-)
C64.3
(-)
-147
(-)
66.4
(-)
Trend
Giedraitis, 2009
Sweden (ULSAM) CL  2  (detail)  86
(0%)
C80.2
(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
(-)
C64.6 + 5.4
(-)
-110
(-)
60.9 + 8.2
(-)
Negative
Kowalska, 1998
Poland CL  1  (detail)  97
(-)
C74
(-)
-43
(-)
-Negative
Kowalska, 2004
Poland    1  (detail)  55
(-)
C--48
(-)
-Negative
Lambert, 2001
UK CL  1  (detail)  287
(51%)
M63.1 + 10.4
(-)
67.1 + 13
(-)
482
(58%)
62.5 + 14.4
(-)
Positive
Lendon, 1997
Scotland CL  1  (detail)  106
(56%)
M57.6 + 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%)
C71.9 + 8.5
(-)
77.8 + 8.6
(-)
736
(64%)
73.4 + 7.9
(-)
Trend
Martinez-Garcia, 2008
Spain CL  2  (detail)  599
(67%)
C73.1 + 8.8
(-)
-584
(57%)
71.4 + 13
(-)
Positive
Mattila, 1998
Finland CL  1  (detail)  61
(74%)
M76 + 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%)
U73
(-)
-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
(-)
C56.7 + 5.4
(-)
63 + 4.4
(-)
118
(-)
63 + 4.4
(-)
Positive
Wang, 1998
USA CL  1  (detail)  427
(63%)
M68.6 + 8.3
(-)
75.3 + 8.5
(-)
250
(54%)
66.7 + 7.8
(-)
Positive
Wragg, 1996
USA & Europe CL  1  (detail)  240
(61%)
M71.6 + 8.6
(-)
77.5 + 8.6
(-)
185
(58%)
76.2 + 11
(-)
Positive
Zekanowski, 2004
Poland CL  3  (detail)  167
(65%)
C65.5 + 5.7
(-)
-222
(77%)
70.1 + 8.1
(-)
Negative
Zekanowski, 2004
Poland CL  1  (detail)  256
(66%)
C69.2 + 5.1
(-)
-210
(77%)
71.2 + 6.7
(-)
Negative
 African Descent
Wragg, 1996
USA CL  1  (detail)  29
(76%)
M71.8 + 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%)
C70.2 + 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%)
U71.2 + 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
(-)
C69.2 + 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%)
C69.1 + 5.6
(-)
72 + 5.7
(-)
217
(73%)
71.9 + 5.9
(-)
Negative
 Hispanic
Arango, 2001
Colombia CL  1  (detail)  76
(57%)
M68.2 + 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%)
U69.3 + 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)  51103
(-)
C-76.9
(-)
67
(-)
73.1
(-)
Negative
Schjeide, 2009
USA (CAG)  1  (detail)  217222
(59%)
M69.2 + 9
(50-89)
-267
(63%)
72.9 + 8.8
(49-92)
Negative
Schjeide, 2009
USA (NCRAD)  1  (detail)  340741
(74%)
M71.3 + 7.6
(50-98)
-300
(55%)
71 + 8.4
(39-93)
Negative
Schjeide, 2009
USA (NIA)  1  (detail)  351803
(64%)
M74.1 + 7.1
(52-98)
-290
(59%)
73.3 + 9.5
(36-94)
Positive
Schjeide, 2009
USA (NIMH)  1  (detail)  436995
(74%)
M72.4 + 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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