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HuGENet Review

Association between Apolipoprotein E Polymorphisms and Age-related Macular Degeneration: A HuGE Review and Meta-Analysis
Ammarin Thakkinstian1,2, Steve Bowe2, Mark McEvoy2, Wayne Smith2 and John Attia2

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Tables

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TABLE 1: General characteristics of studies included in a meta-analysis of apolipoprotein E polymorphisms and age-related macular degeneration

First author and
reference no.
Year of
publication
Study
design
Ethnicity
Mean age (years)
%
male
Quality
score*
Cases
Controls
Cases
Controls
Klaver (4)
1998
Case-control
Caucasian
81.0
69.0
38.5
11
Advanced AMD†,
combined
Controls without
AMD, without
ophthalmologic
examination
Souied (35)
1998
Age- and
sex-matched
case-control
Caucasian
73.8
74.9
35.2
8
AMD with drusen
upon ophthalmologic
examination,
combined
Controls without
AMD, without
ophthalmologic
examination
Pang (36)
2000
Case-control
Asian
71.8
69.7
3
AMD with drusen
or changes in retinal
pigment epithelium
by fundus examination,
combined
Controls without eye
disease (except
cataract), confirmed
upon ophthalmologic
examination
Schmidt (68)
2000
Case-control
Caucasian
75.5
68.1
42.7
9
AMD with extensive or
intermediate drusen
(>63 µm, grade 3)
with/without retinal
pigment epithelium
detachment,
geographic
atrophy (grade 4),
or exudative lesion
(grade 5), combined
Controls with drusen
<63 µm (grade I)
or nonextensive
intermediate drusen
(>63 µlm), confirmed
with ophthalmologic
examination
Simonelli (33)
2001
Case-control
Caucasian
71.8
37.0
58.6
5
AMD with geographic
atrophy, choroidal
neovascularization,
detachment of retinal
pigment epithelium,
subretinal hemorrhage,
or retinal scarring,
combined
Controls without
AMD, without
ophthalmologic
examination
Schmidt (8)
2002
Case-control
Caucasian
73.9
75.3
31.6
10
Same as in Schmidt (68)
Same as in
Schmidt (68)
Schultz (31)
2003
Case-control
Caucasian
78.2
72.5
10
AMD, combined
Controls without
AMD, based on
fundus photographs
Baird (32)
2004
Case-control
Caucasian
77.3
76.6
32.9
10
Advanced AMD,
combined
Controls with normal
fundus or drusen
<63 µm upon
ophthalmologic
examination
Gotoh (34)
2004
Case-control
Asian
70.9
69.4
63.3
7
Advanced AMD,
combined
Controls without
AMD, confirmed by
ophthalmologic
examination
Zareparsi (69)
2004
Case-control
Caucasian
79.2
74.6
37.2
9
Advanced AMD,
combined
Controls without
AMD, confirmed by
ophthalmologic
examination

* Total scores ranged from 0 (worst) to 12 (best) (see Materials and Methods).
† AMD, age-related macular degeneration.

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TABLE 2: Genotype frequency of the ADH1C polymorphism, by geographic region

First author and
reference no.
Cases
Controls
E2/E3
E4/E3
No.
Allele
No.
Allele
HWE* p
value
OR1*
95% CI*
OR2
95% CI
E2
E3
E4
E2
E3
E4
Klaver (4)
176
22
142
12
1802
163
1357
282
0.087
1.289
0.800, 2.079
0.407
0.223, 0.743
Souied (35)
232
23
192
17
336
21
265
50
0.673
1.512
0.813, 2.810
0.469
0.263, 0.839
Schmidt (68)
202
21
150
31
744
60
575
109
0.594
1.342
0.791, 2.276
1.090
0.704, 1.689
Simonelli (33)†
174
17
152
5
2568
153
2149
266
0.001
1.571
0.927, 2.662
0.266
0.108, 0.654
Schmidt (8)
196
24
156
16
146
12
118
16
0.856
1.513
0.727, 3.149
0.756
0.363, 1.574
Schultz (31)
208
19
170
19
226
18
180
28
0.716
1.118
0.567, 2.201
0.718
0.387, 1.334
Baird (32)
398
39
310
49
246
17
185
44
0.143
1.369
0.753, 2.490
0.665
0.425, 1.038
Zareparsi (69)
1258
116
1022
120
410
33
320
57
0.053
1.101
0.733, 1.653
0.659
0.469, 0.926
Gotoh (34)
170
9
149
12
164
14
135
15
0.352
0.582
0.244, 1.389
0.725
0.328, 1.604
Pang (36)
274
27
231
16
266
25
221
20
0.799
1.033
0.582, 1.835
0.765
0.387, 1.514
Summary OR
1.167
1.006, 1.354
0.671
0.573, 0.784

* HWE, Hardy-Weinberg equilibrium; OR, odds ratio; CI, confidence interval.
† Not included in calculation of summary OR.

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TABLE 3: Genotype frequencies in studies of apolipoprotein E polymorphisms among patients with age-related macular degeneration and controls

First author and
reference no.
Cases
Controls
No.
Genotype
No.
Genotype
E2E2
E2E3
E2E4
E3E3
E3E4
E4E4
E2E2
E2E3
E2E4
E3E3
E3E4
E4E4
Klaver (4)
88
0
20
2
56
10
0
901
9
130
15
500
227
20
Souied (35)
116
0
20
3
82
8
3
168
1
15
4
104
42
2
Schmidt (68)
101
2
13
4
58
21
3
372
4
44
8
225
81
10
Simonelli (33)
87
0
16
1
66
4
0
1284
12
111
17
903
232
9
Schmidt (8)
98
1
21
1
60
15
0
73
0
11
1
47
13
1
Schultz (31)
104
2
15
0
69
17
1
113
0
15
3
71
23
1
Baird (32)
199
2
28
7
122
38
2
123
2
10
3
69
37
2
Zareparsi (69)
629
1
104
10
406
106
2
205
0
29
4
119
53
0
Gotoh (34)
85
0
8
1
65
11
0
82
0
13
1
55
12
1
Pang (36)
137
0
24
3
97
13
0
133
0
24
1
89
19
0

 

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TABLE 4: Estimation of the summary odds ratios (ORs) OR3 (E2E2 vs. E3E3) and OR4 (E2E3 vs. E3E3) in an analysis of apolipoprotein E polymorphisms among patients with age-related macular degeneration and controls

First author and reference no.
Cases
Controls
E2E2vs. E3E3
E2E2vs. E3E3
E2E2
E2E3
E3E3
E2E2
E2E3
E3E3
OR3
95% CI*
OR4
95% CI
Klaver (4)
0
20
56
9
130
500
0.466
0.026, 8.117
1.374
0.796, 2.371
Souied (35)
0
20
82
1
15
104
0.422
0.018, 10.500
1.691
0.815, 3.507
Schmidt (68)
2
13
58
4
44
225
1.939
0.347, 10.851
1.146
0.579, 2.268
Simonelli (33)†
0
16
66
12
111
903
0.543
0.032, 9.279
1.972
1.103, 3.524
Schmidt (8)
1
21
60
0
11
47
2.355
0.094, 59.132
1.495
0.656, 3.407
Schultz (31)
2
15
69
0
15
71
5.144
0.243, 109.079
1.029
0.468, 2.264
Baird (32)
2
28
122
2
10
69
0.566
0.078, 4.105
1.583
0.726, 3.454
Zareparsi (69)
1
104
406
0
29
119
0.882
0.036, 21.790
1.051
0.664, 1.664
Summary OR
1.046
0.519, 2.201
1.221
0.956, 1.612

* CI, confidence interval.
† Not included in calculation of summary OR.

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TABLE 5: Results of pooled analysis of data from seven case-control studies on the association of the ADH1C genotype and alcohol consumption with head and neck cancer

First author and reference no.
Cases
Controls
E4E4vs. E3E3
E3E4vs. E3E3
E4E4
E3E4
E3E3
E4E4
E3E4
E3E3
OR5
95% CI*
OR6
95% CI
Klaver (4)
0
10
56
20
227
500
0.216
0.013, 3.621
0.409
0.208, 0.805
Souied (35)
3
8
82
2
42
104
1.773
0.341, 9.219
0.253
0.114, 0.559
Schmidt (68)
3
21
58
10
81
225
1.164
0.310, 4.366
1.005
0.574, 1.761
Simonelli (33)†
0
4
66
9
232
903
0.715
0.041, 12.421
0.263
0.100, 0.691
Schmidt (8)
0
15
60
1
13
47
0.262
0.010, 6.571
0.901
0.396, 2.052
Schultz (31)
1
17
69
1
23
71
1.029
0.104, 10.130
0.766
0.380, 1.545
Baird (32)
2
38
122
2
37
69
0.566
0.078, 4.105
0.581
0.338, 0.997
Zareparsi (69)
2
106
406
0
53
119
1.47
0.070, 30.828
0.585
0.398, 0.861
Summary OR
0.847
0.444, 1.751
0.624
0.459, 0.904

* CI, confidence interval.
† Not included in calculation of summary OR.

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Page last reviewed: March 29, 2007 (archived document)
Page last updated: November 2, 2007
Content Source: CDC's Office of Public Health Genomics