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 (2): 237indelG
Related Disease: Coronary Artery Disease
Sample Size/Sex: 1444 (655 controls, 789 cases) men
Sample Ethnic Group: Controls (248 Chinese, 176 Malays and 231 Indians); Cases (516 Chinese, 113 Malays and 160 Indians)

Allele or Genotype available
Allele 1 : 2g
Allele 2 : 3g


Frequency in Cases
Allele or Genotype No Cases/Control/Sample Type Race Sex Data
Allele 1 CAD Chinese Male 0.84
Allele 2 CAD Chinese Male 0.16
Allele 1 CAD Indian Male 0.734
Allele 2 CAD Indian Male 0.266
Allele 1 CAD Malay Male 0.796
Allele 2 CAD Malay Male 0.204
Allele 1 CAD na Male 0.812
Allele 2 CAD na Male 0.188
Genotype 1-1 CAD Chinese Male 367 (71.1%)
Genotype 1-2 CAD Chinese Male 133 (25.8%)
Genotype 2-2 CAD Chinese Male 16 (3.1%)
Genotype 1-1 CAD Indian Male 92 (57.5%)
Genotype 1-2 CAD Indian Male 51 (31.9%)
Genotype 2-2 CAD Indian Male 17 (10.6%)
Genotype 1-1 CAD Malay Male 70 (61.9%)
Genotype 1-2 CAD Malay Male 40 (35.4%)
Genotype 2-2 CAD Malay Male 3 (2.7%)
Genotype 1-1 CAD na Male 529 (67.0%)
Genotype 1-2 CAD na Male 224 (28.4%)
Genotype 2-2 CAD na Male 36 (4.6%)


Frequency in Controls
Allele or Genotype No Cases/Control/Sample Type Race Sex Data
Allele 1 Control Chinese Male 0.845
Allele 2 Control Chinese Male 0.155
Allele 1 Control Indian Male 0.699
Allele 2 Control Indian Male 0.301
Allele 1 Control Malay Male 0.841
Allele 2 Control Malay Male 0.159
Allele 1 Control na Male 0.792
Allele 2 Control na Male 0.208
Genotype 1-1 Control Chinese Male 181 (73.0%)
Genotype 1-2 Control Chinese Male 57 (23.0%)
Genotype 2-2 Control Chinese Male 10 (4.0%)
Genotype 1-1 Control Indian Male 115 (49.8%)
Genotype 1-2 Control Indian Male 93 (40.3%)
Genotype 2-2 Control Indian Male 23 (10.0%)
Genotype 1-1 Control Malay Male 126 (71.6%)
Genotype 1-2 Control Malay Male 44 (25.0%)
Genotype 2-2 Control Malay Male 6 (3.4%)
Genotype 1-1 Control na Male 422 (64.4%)
Genotype 1-2 Control na Male 194 (29.6%)
Genotype 2-2 Control na Male 39 (6.0%)


Frequency in Sample
Allele or Genotype No Cases/Control/Sample Type Race Sex Data
Allele 1 na Chinese Male 0.842
Allele 2 na Chinese Male 0.158
Allele 1 na Indian Male 0.714
Allele 2 na Indian Male 0.286
Allele 1 na Malay Male 0.824
Allele 2 na Malay Male 0.176
Allele 1 na na Male 0.803
Allele 2 na na Male 0.197
Genotype 1-1 na Chinese Male 548 (71.7%)
Genotype 1-2 na Chinese Male 190 (24.9%)
Genotype 2-2 na Chinese Male 26 (3.4%)
Genotype 1-1 na Indian Male 207 (52.9%)
Genotype 1-2 na Indian Male 144 (36.8%)
Genotype 2-2 na Indian Male 40 (10.3%)
Genotype 1-1 na Malay Male 196 (67.8%)
Genotype 1-2 na Malay Male 84 *29.1%)
Genotype 2-2 na Malay Male 9 (3.1%)
Genotype 1-1 na na Male 951 (65.9%)
Genotype 1-2 na na Male 418 (28.9%)
Genotype 2-2 na na Male 75 (5.2%)

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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