The Singapore Human Mutation
And Polymorphism Database

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<< Gene or Locus List >>

ABCA1
OMIM: +600046
Gene Name: ATP-binding cassette, sub-family A (ABC1), member 1

encodes ATP-binding cassette transporter ABCA1; important mediator in phospholipid and cholesterol efflux; first step of reverse cholesterol transport

5 mutations/polymorphisms recorded....
[1] -14C>T : Paper 1
[2] 237indelG : Paper 1
[3] 2476G>A : Paper 1
[4] 2652G>A : Paper 1
[5] 8994A>G : Paper 1


Mutation/Polymorphism (5): 8994A>G
Related Disease: Coronary Artery Disease
Sample Size/Sex: 1477 (684 controls, 793 cases) men
Sample Ethnic Group: Controls (272 Chinese, 179 Malays and 233 Indians); Cases (515 Chinese, 112 Malays and 166 Indians)

Allele or Genotype available
Allele 1 : A
Allele 2 : G


Frequency in Cases
Allele or Genotype No Cases/Control/Sample Type Race Sex Data
Allele 1 CAD Chinese Male 0.812
Allele 2 CAD Chinese Male 0.188
Allele 1 CAD Indian Male 0.84
Allele 2 CAD Indian Male 0.16
Allele 1 CAD Malay Male 0.848
Allele 2 CAD Malay Male 0.152
Allele 1 CAD na Male 0.823
Allele 2 CAD na Male 0.177
Genotype 1-1 CAD Chinese Male 342 (66.4%)
Genotype 1-2 CAD Chinese Male 152 (29.5%)
Genotype 2-2 CAD Chinese Male 21 (4.1%)
Genotype 1-1 CAD Indian Male 117 (70.5%)
Genotype 1-2 CAD Indian Male 45 (27.1%)
Genotype 2-2 CAD Indian Male 4 (2.4%)
Genotype 1-1 CAD Malay Male 84 (75.0%)
Genotype 1-2 CAD Malay Male 22 (19.6%)
Genotype 2-2 CAD Malay Male 6 (5.4%)
Genotype 1-1 CAD na Male 543 (68.5%)
Genotype 1-2 CAD na Male 219 (27.6%)
Genotype 2-2 CAD na Male 31 (3.9%)


Frequency in Controls
Allele or Genotype No Cases/Control/Sample Type Race Sex Data
Allele 1 Control Chinese Male 0.847
Allele 2 Control Chinese Male 0.153
Allele 1 Control Indian Male 0.837
Allele 2 Control Indian Male 0.163
Allele 1 Control Malay Male 0.835
Allele 2 Control Malay Male 0.165
Allele 1 Control na Male 0.841
Allele 2 Control na Male 0.159
Genotype 1-1 Control Chinese Male 193 (71.0%)
Genotype 1-2 Control Chinese Male 75 (27.6%)
Genotype 2-2 Control Chinese Male 4 (1.5%)
Genotype 1-1 Control Indian Male 162 (69.5%)
Genotype 1-2 Control Indian Male 66 (28.3%)
Genotype 2-2 Control Indian Male 5 (2.1%)
Genotype 1-1 Control Malay Male 130 (72.6%)
Genotype 1-2 Control Malay Male 45 (27.1%)
Genotype 2-2 Control Malay Male 4 (2.4%)
Genotype 1-1 Control na Male 485 (70.9%)
Genotype 1-2 Control na Male 180 (26.3%)
Genotype 2-2 Control na Male 19 (2.8%)


Frequency in Sample
Allele or Genotype No Cases/Control/Sample Type Race Sex Data
Allele 1 na Chinese Male 0.824
Allele 2 na Chinese Male 0.176
Allele 1 na Indian Male 0.838
Allele 2 na Indian Male 0.162
Allele 1 na Malay Male 0.84
Allele 2 na Malay Male 0.16
Allele 1 na na Male 0.831
Allele 2 na na Male 0.167
Genotype 1-1 na Chinese Male 535 (68.0%)
Genotype 1-2 na Chinese Male 227 (28.8%)
Genotype 2-2 na Chinese Male 25 (3.25)
Genotype 1-1 na Indian Male 279 (69.9%)
Genotype 1-2 na Indian Male 111 (27.8%)
Genotype 2-2 na Indian Male 9 (2.3%)
Genotype 1-1 na Malay Male 214 (73.5%)
Genotype 1-2 na Malay Male 61 (21.0%)
Genotype 2-2 na Malay Male 16 (5.5%)
Genotype 1-1 na na Male 1028 (69.6%)
Genotype 1-2 na na Male 399 (27.0%)
Genotype 2-2 na na Male 50 (3.4%)

Reference (PUBMED Accession No.): 12709788
Human Genetics 2003. ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore. Jenny Hui-Hui Tan, Poh-Sim Low, Yong-Seng Tan, Ming-Chuan Tong, Nilmani Saha, Hongyuan


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