AlzGene - Polymorphism Details
Back Search Methods Disclaimer Credits
 Study: Shibata, 2005
 Gene: ABCA1  (TGD; ABC1; CERP; ABC-1; HDLDT1)  Entrez Gene
 Protein: ATP-binding cassette, sub-family A member 1  (ATP binding cassette transporter 1; cholesterol efflux regulatory protein; high density lipoprotein deficiency, Tangier type, 1; ATP-binding cassette 1)  ProteinLink
 Chromosome: 9   (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: 4

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
rs2230808 (R1587K) USA, Canada AD
CTR
0.17
0.18
0.83
0.82
6 (0.028)
6 (0.031)
62 (0.284)
58 (0.297)
150 (0.688)
131 (0.672)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Case-Control Studies (by ethnic group)
  Genotypes*
Polymorphism ID#
(Link to NCBI)
Population   G-Allele A-Allele G/G
(frequency)
G/A
(frequency)
A/A
(frequency)
 Caucasian
rs2066714 (I883M) USA, Canada AD
CTR
0.29
0.26
0.71
0.74
18 (0.083)
13 (0.067)
90 (0.413)
75 (0.385)
110 (0.505)
107 (0.549)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

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
rs2230806 (R219K) USA, Canada AD
CTR
0.26
0.22
0.74
0.78
15 (0.069)
9 (0.046)
84 (0.385)
67 (0.344)
119 (0.546)
119 (0.610)


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
rs2422493 (C-477T) USA, Canada AD
CTR
0.44
0.45
0.56
0.55
42 (0.194)
39 (0.200)
107 (0.493)
97 (0.497)
68 (0.313)
59 (0.303)
*Genotypes have been calculated from allele frequencies assuming Hardy-Weinberg equilibrium.

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   A-Allele G-Allele A/A
(frequency)
A/G
(frequency)
G/G
(frequency)
 Hispanic
rs2230808 (R1587K) Mixed AD
CTR
-
-
-
-
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   G-Allele A-Allele G/G
(frequency)
G/A
(frequency)
A/A
(frequency)
 Hispanic
rs2066714 (I883M) Mixed AD
CTR
-
-
-
-
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   A-Allele G-Allele A/A
(frequency)
A/G
(frequency)
G/G
(frequency)
 Hispanic
rs2230806 (R219K) Mixed AD
CTR
-
-
-
-
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   C-Allele T-Allele C/C
(frequency)
C/T
(frequency)
T/T
(frequency)
 Hispanic
rs2422493 (C-477T) Mixed AD
CTR
-
-
-
-
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).
AlzGene Recent Updates
AlzGene Top Results
AlzGene Stats
Studies: 1395
Genes: 695
Polymorphisms: 2973
Meta-analyses: 320
Cure Alzheimer's Fund
Proud supporter of the AlzGene database.
Michael J. Fox Foundation
The PDGene database is supported by a grant from The Michael J. Fox Foundation in partnership with the Alzheimer Research Forum.

NCRAD

The National Cell Repository for Alzheimer Disease seeks to recruit 1,000 families with two or more living brothers or sisters who have been diagnosed with late onset Alzheimer’s disease.
ALSGene
AlzGene
MSGene
PDGene
SZGene
An up-to-date collection of all published genetic association studies.