AlzGene - Gene overview of all published AD-association studies for APOE
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 Gene: APOE  (AD2; MGC1571)  Entrez Gene    View on ALSGene   View on MSGene   View on PDGene   View on SZGene
 Protein: apolipoprotein E  (Alzheimer disease 2)  ProteinLink
 Chromosome: 19   (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
Abraham, 2008
GWAS CL  2  (detail)  1082
(71%)
C75.8 + 6.8
(60-95)
-1239
(-)
76.5 + 6.3
(-)
Positive
Ahmed, 1999
UK CL  1  (detail)  96
(67%)
N--53
(34%)
-Positive
Alvarez-Arcaya, 2001
Spain CL  1  (detail)  251
(68%)
C71.5 + 9.1
(40-95)
75.3 + 9.3
(50-98)
251
(70%)
79.9 + 7.9
(63-98)
Positive
Artiga, 1998
Overlaps with
Bullido, 1998 (Spain)
CL  2  (detail)  ------n.a.
Artiga, 1998
Overlaps with
Bullido, 1998 (USA)
CL  2  (detail)  ------n.a.
Bahia, 2008
Brazil CL  2  (detail)  120
(68%)
C71.1 + 9.5
(-)
75.2 + 9.2
(-)
120
(63%)
72.5 + 8.6
(-)
Positive
Beecham, 2009
GWAS CL  0  492
(61%)
M72.9 + 6.6
(-)
-496
(63%)
74.3 + 6.5
(-)
Positive
Belbin, 2007
UK CL  5  (detail)  395
(57%)
M75.6 + 10.5
(-)
-324
(49%)
75.3 + 9.4
(-)
Positive
Beyer, 2002a
Spain CL  2  (detail)  183
(62%)
C-70.8
(48-85)
169
(60%)
68.7
(45-84)
Positive
Beyer, 2002b
Overlaps with
Beyer, 2002a
   2  (detail)  ------n.a.
Beyer, 2005
Overlaps with
Beyer, 2002a
CL  1  (detail)  206
(62%)
C-72.6
(48-85)
181
(60%)
69.6
(45-84)
n.a.
Bizzarro, 2009
Italy CL  3  (detail)  169
(69%)
C-63.3 + 7.3
(-)
99
(49%)
66.2 + 7.3
(-)
Positive
Bullido, 1998
Spain CL  1  (detail)  110
(-)
C68 + 5
(-)
-132
(-)
72 + 7
(-)
Positive
Bullido, 1998
USA CL  1  (detail)  160
(-)
C75 + 8
(-)
-175
(-)
78 + 9
(-)
Positive
Bullido, 2000
Overlaps with
Bullido, 1998 (Spain)
CL  4  (detail)  154
(60%)
C70.4 + 6.3
(-)
-217
(62%)
72 + 7.6
(-)
Positive
Carrasquillo, 2009
GWAS (Stage I) CL  2  (detail)  844
(57%)
M74 + 4.8
(-)
-1255
(51%)
73.2 + 4.4
(-)
Positive
Carrasquillo, 2009
GWAS (Stage II) CL  2  (detail)  1547
(65%)
M81.1 + 7.8
(-)
-1209
(58%)
83.3 + 5.6
(-)
Positive
Casadei, 1999
Italy CL  1  (detail)  358
(63%)
C67.3 + 9.3
(-)
-367
(41%)
63.2 + 12.5
(-)
Positive
Chalmers, 2004
UK CL  2  (detail)  86
(53%)
N-79.5 + 7.2
(60-93)
58
(41%)
78.8 + 8.2
(62-95)
Negative
Clarimon, 2003
Spain    1  (detail)  112
(73%)
C-76.7 + 5.4
(-)
89
(53%)
74.8 + 5.2
(-)
Positive
Coon, 2007
GWAS    0  ------Positive
Corder, 2006
Overlaps with
Parker, 2005
CL  2  (detail)  ------n.a.
Emahazion, 2001
Scotland CL  1  (detail)  121
(-)
C--152
(-)
-Negative
Giedraitis, 2009
GWAS CL  0  86
(0%)
C80.2
(72-85)
-404
(0%)
81.8
(80-84)
Positive
Giedraitis, 2009
Sweden (ULSAM) CL  2  (detail)  86
(0%)
C80.2
(72-85)
-404
(0%)
81.8
(80-84)
Negative
Grupe, 2007
UK1 CL  1  (detail)  380
(77%)
M75.7 + 7.1
(-)
-396
(75%)
76.6 + 6.2
(-)
Positive
Grupe, 2007
UK2 CL  1  (detail)  309
(73%)
M76.3 + 7
(-)
-349
(57%)
76.7 + 5.6
(-)
Positive
Grupe, 2007
UK3 CL  1  (detail)  503
(64%)
M75.1 + 6.5
(-)
-643
(59%)
76.1 + 6.4
(-)
Positive
Grupe, 2007
USA (WashU) CL  1  (detail)  376
(63%)
M76.3 + 7
(-)
-349
(57%)
76.7 + 5.6
(-)
Positive
Grupe, 2007
USA (UCSD) CL  1  (detail)  240
(45%)
M72 + 6.2
(-)
-330
(63%)
79.3 + 7.2
(-)
Positive
Halimi, 2000
France CL  1  (detail)  281
(-)
C-76.9 + 8.3
(-)
84
(-)
77 + 7.4
(-)
Negative
Han, 2010
* Recently Added *
Overlaps with
Kim, 2011
CL  1  (detail)  172
(39%)
C-71
(-)
109
(46%)
71.7
(-)
Positive
Harold, 2009
GWAS CL  0  3941
(63%)
M72.7
(-)
-7848
(53%)
55.6
(-)
Positive
Harold, 2009
Stage 1 (UK, Ireland) CL  2  (detail)  2227
(65%)
M72.9
(-)
79.7
(-)
5241
(53%)
51.2
(-)
Positive
Harold, 2009
Stage 1 (USA) CL  2  (detail)  1159
(58%)
M73.5
(-)
80.7
(-)
1783
(56%)
68.1
(-)
Positive
Harold, 2009
Stage 1 (Germany) CL  2  (detail)  555
(64%)
C70.5
(-)
72.9
(-)
824
(51%)
56.5
(-)
Positive
Heinzen, 2009
GWAS CL  0  331
(42%)
U76 + 8
(-)
-368
(60%)
-Positive
Helisalmi, 1999
Finland CL  1  (detail)  106
(73%)
C72.5 + 5.6
(59-89)
-123
(62%)
72.6 + 4
(64-87)
Trend
Hu, 2011
* Recently Added *
USA, Canada (Pfizer, GenADA, ADNI) CL  1  (detail)  1831
(-)
C--1764
(-)
-Positive
Hu, 2011
* Recently Added *
Canada (Genizon-REP) CL  1  (detail)  751
(-)
M--751
(-)
-Positive
Juhasz, 2005
Hungary CL  1  (detail)  52
(69%)
C-73 + 8.9
(-)
53
(57%)
71.5 + 7
(-)
Negative
Kim, 2011
* Recently Added *
USA (ADNI-CSF-GWAS) CL  1  (detail)  96
(42%)
C-75 + 7.8
(-)
102
(48%)
75.9 + 5.1
(-)
Positive
Lambert, 1998 (I)
Overlaps with
Lambert, 2002
   2  (detail)  293
(-)
---310
(-)
-n.a.
Lambert, 1998 (II)
Overlaps with
Lambert, 2002
   3  (detail)  573
(-)
---509
(-)
-n.a.
Lambert, 2002
France CL  2  (detail)  675
(63%)
C69.6 + 8.5
(-)
72.9 + 8.5
(-)
657
(63%)
73.3 + 8.6
(-)
Positive
Lambert, 2004
France (pooled) CL  2  (detail)  124
(-)
C--412
(64%)
79 + 8
(-)
Positive
Lambert, 2009
GWAS CL  0  2025
(66%)
C68.3 + 9
(-)
73.7 + 8.9
(-)
5328
(61%)
73.8 + 5.4
(-)
Positive
Laws, 1999
Australia CL  1  (detail)  232
(-)
C--406
(-)
-Positive
Laws, 2002
Australia CL  1  (detail)  20
(45%)
N-65.6 + 3.3
(-)
40
(43%)
61.2 + 2.5
(-)
Positive
Lee, 2008
USA (NIA) CL  0  328
(62%)
M-73.3 + 7.1
(-)
236
(58%)
78.1 + 9.1
(-)
Positive
Li, 2008
UK1 CL  1  (detail)  342
(-)
C--346
(-)
-Positive
Li, 2008
USA (WashU) CL  1  (detail)  396
(-)
C--367
(-)
-Positive
Li, 2008
UK2 CL  1  (detail)  278
(-)
C--311
(-)
-Positive
Li, 2008
USA (UCSD) CL  1  (detail)  235
(-)
C--322
(-)
-Positive
Li, 2008
GWAS    0  ------Positive
Licastro, 1999
Overlaps with
Casadei, 1999
CL  1  (detail)  260
(61%)
C-73.8 + 1
(-)
186
(33%)
60 + 1
(50-92)
n.a.
Lynch, 2008
Ireland CL  2  (detail)  112
(-)
C--107
(-)
-Negative
Naj, 2011
* Recently Added *
USA (ADGC-GWAS) CL  1  (detail)  8309
(61%)
M--7366
(58%)
-Positive
Nicodemus, 2004
USA CL  5  (detail)  547
(66%)
M-74.3 + 8.4
(-)
298
(52%)
68 + 8.9
(-)
Positive
Papassotiropoulos, 2005
I (Greece) CL  1  (detail)  134
(-)
C--45
(-)
-Positive
Papassotiropoulos, 2005
II (Germany, Switzerland) CL  1  (detail)  150
(-)
C--216
(-)
-Positive
Parker, 2005
USA CL  2  (detail)  180
(71%)
C70.8 + 8.1
(-)
-141
(59%)
72.3 + 8.4
(51-89)
Positive
Potkin, 2009
GWAS CL  0  172
(47%)
C-75.3 + 7.3
(-)
209
(48%)
75.9 + 5.1
(-)
Positive
Randall, 2009
Overlaps with
Parker, 2005
CL  2  (detail)  181
(71%)
C--119
(52%)
-n.a.
Roks, 1998
Netherlands PO  1  (detail)  99
(-)
C57 + 5
(-)
63 + 4.9
(-)
109
(-)
61 + 3.3
(-)
Positive
Roks, 1998
Spain PO  1  (detail)  78
(-)
C57 + 5.8
(-)
63 + 8.2
(-)
132
(-)
63 + 8.2
(-)
Positive
Roks, 2002
Netherlands PO  1  (detail)  360
(76%)
C-82.4 + 7.1
(-)
247
(85%)
74.7 + 3.6
(-)
Positive
Seshadri, 2010
GWAS CL  1  (detail)  9511
(-)
M--36136
(-)
-Positive
Shen, 2010
* Recently Added *
USA (ADNI-MRI-GWAS) CL  1  (detail)  175
(45%)
C-75.5 + 7.6
(-)
203
(45%)
76.1 + 5
(-)
Positive
Song, 1998
USA, Canada CL  1  (detail)  88
(-)
C76.1 + 7.8
(-)
-112
(-)
69.9 + 12.5
(-)
Negative
Thome, 1999
Germany CL  1  (detail)  80
(-)
C--306
(-)
-Negative
Trebunova, 2009
Slovakia CL  1  (detail)  69
(55%)
C-73.2 + 9.9
(-)
122
(51%)
73.2 + 10.7
(-)
Positive
Wang, 2000
USA CO  3  (detail)  237
(50%)
C72.8 + 5.7
(60-93)
-274
(59%)
77.4 + 6.6
(60-102)
Positive
Yu, 2007
USA CL  12  (detail)  193
(53%)
C--232
(59%)
-Positive
Zill, 2001
Germany CL  2  (detail)  89
(56%)
C-73 + 9
(-)
118
(53%)
47 + 12
(-)
Negative
Zurutuza, 2000
France CL  3  (detail)  388
(59%)
C65.4 + 9.4
(40-90)
-386
(54%)
66.9 + 10.4
(43-92)
Trend
 African Descent
Tycko, 2004
USA CL  3  (detail)  142
(-)
C--251
(-)
-Negative
 Asian
Chen, 1999
China CL  1  (detail)  196
(74%)
M-79.5 + 8.5
(-)
180
(66%)
79.2 + 7.5
(-)
Negative
Hu, 2000
Taiwan CL  1  (detail)  82
(-)
C-78.2
(62-96)
110
(-)
79.2
(67-87)
Negative
Takei, 2009
Japan CL  5  (detail)  547
(72%)
C73 + 6.9
(60-93)
-715
(54%)
73 + 6.8
(-)
Positive
Toji, 1999
Japan    1  (detail)  118
(71%)
C67.6 + 9.5
(-)
-118
(74%)
65.1 + 8.5
(-)
Negative
Wakutani, 2002
Japan CL  1  (detail)  241
(-)
U--352
(-)
-Negative
Yamagata, 2001
Japan    2  (detail)  27
(52%)
N-78.5 + 8.7
(56-90)
20
(55%)
75.3 + 13
(38-99)
Negative
Yang, 2003
China CL  4  (detail)  183
(58%)
C-74.6
(-)
133
(48%)
74.5
(-)
Positive
 Hispanic
Tycko, 2004
USA CL  3  (detail)  230
(-)
C-79.5 + 6.6
(65-103)
359
(-)
-Negative
 Other/Mixed
Mui, 1996
USA CL  1  (detail)  94
(-)
M--49
(-)
-Trend
Naj, 2010
USA (discovery) CL  2  (detail)  931
(65%)
M74.4 + 8.1
(-)
-1104
(62%)
73.8 + 7.8
(-)
Positive
Naj, 2010
USA (replication) CL  2  (detail)  1338
(-)
M--2003
(-)
-Positive
Para-Bonilla, 2003
Colombia    3  (detail)  79
(71%)
C68 + 3.8
(-)
-67
(-)
71.5 + 12.4
(-)
Positive
Perry, 2001
USA CL  2  (detail)  111
(78%)
M70.8 + 7.8
(-)
71.3 + 7.7
(-)
78
(76%)
75.2 + 7.6
(-)
Negative
Rebeck, 1999
USA CL  2  (detail)  183
(-)
M--250
(-)
-Negative
Town, 1998
USA CL  1  (detail)  190
(48%)
C73.4 + 6.2
(-)
-132
(58%)
71.6 + 7.2
(-)
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 Comment
 Caucasian
Bertram, 2008
GWAS  0   ------Positive
Lee, 2008
Overlaps with
Lee, 2009 (CC)
 0  328776
(-)
M73.9 + 7.5
(-)
77.2 + 7.5
(-)
873
(-)
-Positive
Nicodemus, 2004
USA  5  (detail)  248592
(26%)
M68
(-)
-452
(-)
-Negative
Wijsman, 2011
* Recently Added *
USA (NIA, NCRAD)  0  6111848
(-)
M--1991
(-)
-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 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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