AlzGene - Polymorphism Details
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 Study: Bettens, 2009
 Gene: BACE1  (BACE; ASP2; HSPC104; KIAA1149)  Entrez Gene
 Protein: beta-site APP-cleaving enzyme 1  (beta-secretase; APP beta-secretase; memapsin-2; aspartyl protease 2; transmembrane aspartic proteinase Asp2; membrane-associated aspartic protease 2; beta-site amyloid precursor protein cleaving enzyme)  ProteinLink
 Chromosome: 11   (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     Gene Overview
Total number of polymorphisms investigated by this study: 7

Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   A-Allele T-Allele A/A
(frequency)		 A/T
(frequency)		 T/T
(frequency)
 Caucasian
rs535860 Belgium AD
CTR		 0.14
0.14		 0.86
0.86		 6 (0.018)
11 (0.025)		 77 (0.235)
99 (0.223)		 244 (0.746)
334 (0.752)


Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   G-Allele C-Allele G/G
(frequency)		 G/C
(frequency)		 C/C
(frequency)
 Caucasian
rs1047964 Belgium AD
CTR		 0.03
0.05		 0.97
0.95		 1 (0.003)
2 (0.005)		 18 (0.056)
40 (0.096)		 301 (0.941)
374 (0.899)


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
BACE1_1424T/C Belgium AD
CTR		 0.07
0.05		 0.93
0.95		 3 (0.009)
0 (0.000)		 38 (0.114)
42 (0.102)		 293 (0.877)
368 (0.898)


Case-Control Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)		 Population   A-Allele T-Allele A/A
(frequency)		 A/T
(frequency)		 T/T
(frequency)
 Caucasian
BACE1_2114T/A Belgium AD
CTR		 0.02
0.01		 0.98
0.99		 0 (0.000)
0 (0.000)		 12 (0.036)
8 (0.018)		 325 (0.964)
445 (0.982)


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
BACE1_2381C/T Belgium AD
CTR		 0.01
0.01		 0.99
0.99		 0 (0.000)
0 (0.000)		 6 (0.017)
11 (0.024)		 352 (0.983)
451 (0.976)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

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
rs649555 (2904C/T) Belgium AD
CTR		 0.04
0.05		 0.96
0.95		 1 (0.003)
0 (0.000)		 24 (0.075)
36 (0.092)		 293 (0.921)
354 (0.908)


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
rs7083 (3730G/A) Belgium AD
CTR		 0.44
0.44		 0.56
0.56		 64 (0.196)
90 (0.210)		 158 (0.483)
194 (0.452)		 105 (0.321)
145 (0.338)
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1. APOE_e2/3/4
2. BIN1
3. CLU
4. ABCA7
5. CR1
6. PICALM
7. MS4A6A
8. CD33
9. MS4A4E
10. CD2AP
AlzGene Stats
Studies: 1395
Genes: 695
Polymorphisms: 2973
Meta-analyses: 320
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