AlzGene - Polymorphism Details
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 Study: Wollmer, 2007
 Gene: NPC2  (HE1; NP-C2)  Entrez Gene
 Protein: Niemann-Pick disease, type C2  (epididymal secretory protein E1; tissue-specific secretory protein)  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 29 January 2010
Meta-Analysis     Gene Overview
Total number of polymorphisms investigated by this study: 4

Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   C-Allele T-Allele C/C
(frequency)
C/T
(frequency)
T/T
(frequency)
 Caucasian
rs1029699 Belgium AD
CTR
0.17
0.16
0.83
0.84
23 (0.032)
10 (0.022)
203 (0.282)
126 (0.273)
493 (0.686)
326 (0.706)
rs1029699 Germany AD
CTR
0.26
0.14
0.74
0.86
1 (0.025)
3 (0.040)
19 (0.475)
15 (0.200)
20 (0.500)
57 (0.760)
rs1029699 Greece AD
CTR
0.24
0.22
0.76
0.78
14 (0.052)
6 (0.062)
102 (0.378)
30 (0.309)
154 (0.570)
61 (0.629)
rs1029699 Poland AD
CTR
0.13
0.16
0.88
0.84
2 (0.009)
5 (0.021)
50 (0.231)
63 (0.268)
164 (0.759)
167 (0.711)
rs1029699 Sweden AD
CTR
0.16
0.13
0.84
0.87
3 (0.016)
3 (0.018)
53 (0.282)
35 (0.215)
132 (0.702)
125 (0.767)
rs1029699 Switzerland AD
CTR
0.17
0.17
0.83
0.83
4 (0.029)
5 (0.025)
40 (0.290)
58 (0.284)
94 (0.681)
141 (0.691)


Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   A-Allele G-Allele A/A
(frequency)
A/G
(frequency)
G/G
(frequency)
 Caucasian
rs1468503 Belgium AD
CTR
0.24
0.25
0.76
0.75
43 (0.060)
26 (0.056)
262 (0.365)
183 (0.396)
412 (0.575)
253 (0.548)
rs1468503 Germany AD
CTR
0.16
0.23
0.84
0.77
0 (0.000)
5 (0.070)
13 (0.325)
23 (0.324)
27 (0.675)
43 (0.606)
rs1468503 Greece AD
CTR
0.20
0.24
0.80
0.76
13 (0.050)
7 (0.072)
76 (0.292)
33 (0.340)
171 (0.658)
57 (0.588)
rs1468503 Poland AD
CTR
0.20
0.19
0.80
0.81
10 (0.047)
9 (0.038)
64 (0.298)
73 (0.309)
141 (0.656)
154 (0.653)
rs1468503 Sweden AD
CTR
0.27
0.23
0.73
0.77
14 (0.079)
13 (0.081)
68 (0.384)
48 (0.300)
95 (0.537)
99 (0.619)
rs1468503 Switzerland AD
CTR
0.23
0.23
0.77
0.77
7 (0.051)
10 (0.051)
49 (0.355)
71 (0.359)
82 (0.594)
117 (0.591)


Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   C-Allele T-Allele C/C
(frequency)
C/T
(frequency)
T/T
(frequency)
 Caucasian
rs1860108 Belgium AD
CTR
0.17
0.16
0.83
0.84
23 (0.032)
10 (0.022)
203 (0.283)
128 (0.278)
491 (0.685)
322 (0.700)
rs1860108 Germany AD
CTR
0.27
0.15
0.73
0.85
1 (0.026)
3 (0.042)
19 (0.487)
15 (0.208)
19 (0.487)
54 (0.750)
rs1860108 Greece AD
CTR
0.25
0.21
0.75
0.79
14 (0.052)
5 (0.052)
104 (0.388)
30 (0.313)
150 (0.560)
61 (0.635)
rs1860108 Poland AD
CTR
0.13
0.15
0.87
0.85
2 (0.009)
3 (0.013)
53 (0.243)
63 (0.267)
163 (0.748)
170 (0.720)
rs1860108 Sweden AD
CTR
0.14
0.13
0.86
0.88
2 (0.011)
3 (0.018)
48 (0.258)
35 (0.213)
136 (0.731)
126 (0.768)
rs1860108 Switzerland AD
CTR
0.17
0.17
0.83
0.83
4 (0.028)
5 (0.025)
42 (0.292)
58 (0.284)
98 (0.681)
141 (0.691)


Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   T-Allele C-Allele T/T
(frequency)
T/C
(frequency)
C/C
(frequency)
 Caucasian
rs917394 Belgium AD
CTR
0.39
0.41
0.61
0.59
104 (0.153)
79 (0.175)
326 (0.480)
212 (0.469)
249 (0.367)
161 (0.356)
rs917394 Germany AD
CTR
0.33
0.40
0.67
0.60
3 (0.077)
13 (0.178)
20 (0.513)
32 (0.438)
16 (0.410)
28 (0.384)
rs917394 Greece AD
CTR
0.32
0.32
0.68
0.68
32 (0.119)
13 (0.135)
107 (0.399)
35 (0.365)
129 (0.481)
48 (0.500)
rs917394 Poland AD
CTR
0.41
0.38
0.59
0.62
41 (0.187)
34 (0.143)
97 (0.443)
111 (0.466)
81 (0.370)
93 (0.391)
rs917394 Sweden AD
CTR
0.43
0.40
0.57
0.60
32 (0.183)
28 (0.176)
87 (0.497)
72 (0.453)
56 (0.320)
59 (0.371)
rs917394 Switzerland AD
CTR
0.39
0.37
0.61
0.63
23 (0.167)
32 (0.158)
62 (0.449)
85 (0.421)
53 (0.384)
85 (0.421)
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Genes: 695
Polymorphisms: 2973
Meta-analyses: 320
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