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 (4): 2652G>A
Related Disease: Coronary Artery Disease
Sample Size/Sex: 1256 (640 controls, 616 cases) men
Sample Ethnic Group: Controls (250 Chinese, 167 Malays and 223 Indians); Cases (364 Chinese, 100 Malays and 152 Indians)

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


Frequency in Cases
Allele or Genotype No Cases/Control/Sample Type Race Sex Data
Allele 1 CAD Chinese Male 0.694
Allele 2 CAD Chinese Male 0.306
Allele 1 CAD Indian Male 0.105
Allele 2 CAD Indian Male 0.895
Allele 1 CAD Malay Male 0.485
Allele 2 CAD Malay Male 0.515
Allele 1 CAD na Male 0.515
Allele 2 CAD na Male 0.485
Genotype 1-1 CAD Chinese Male 168 (46.2%)
Genotype 1-2 CAD Chinese Male 169 (46.4%)
Genotype 2-2 CAD Chinese Male 27 (7.4%)
Genotype 1-1 CAD Indian Male 6 (3.9%)
Genotype 1-2 CAD Indian Male 20 (13.2%)
Genotype 2-2 CAD Indian Male 126 (82.9%)
Genotype 1-1 CAD Malay Male 26 (26.0%)
Genotype 1-2 CAD Malay Male 45 (45.0%)
Genotype 2-2 CAD Malay Male 29 (29.0%)
Genotype 1-1 CAD na Male 200 (32.5%)
Genotype 1-2 CAD na Male 234 (52.6%)
Genotype 2-2 CAD na Male 182 (14.9%)


Frequency in Controls
Allele or Genotype No Cases/Control/Sample Type Race Sex Data
Allele 1 Control Chinese Male 0.656
Allele 2 Control Chinese Male 0.344
Allele 1 Control Indian Male 0.09
Allele 2 Control Indian Male 0.91
Allele 1 Control Malay Male 0.392
Allele 2 Control Malay Male 0.608
Allele 1 Control na Male 0.39
Allele 2 Control na Male 0.61
Genotype 1-1 Control Chinese Male 97 (38.8%)
Genotype 1-2 Control Chinese Male 134 (53.6%)
Genotype 2-2 Control Chinese Male 19 (7.6%)
Genotype 1-1 Control Indian Male 3 (1.3%)
Genotype 1-2 Control Indian Male 34 (15.2%)
Genotype 2-2 Control Indian Male 186 (83.4%)
Genotype 1-1 Control Malay Male 22 (13.2%)
Genotype 1-2 Control Malay Male 87 (52.1%)
Genotype 2-2 Control Malay Male 58 (34.7%)
Genotype 1-1 Control na Male 122 (19.1%)
Genotype 1-2 Control na Male 255 (39.8%)
Genotype 2-2 Control na Male 263 (41.1%)


Frequency in Sample
Allele or Genotype No Cases/Control/Sample Type Race Sex Data
Allele 1 na Chinese Male 0.678
Allele 2 na Chinese Male 0.322
Allele 1 na Indian Male 0.096
Allele 2 na Indian Male 0.904
Allele 1 na Malay Male 0.427
Allele 2 na Malay Male 0.573
Allele 1 na na Male 0.451
Allele 2 na na Male 0.549
Genotype 1-1 na Chinese Male 265 (43.2%)
Genotype 1-2 na Chinese Male 303 (49.3%)
Genotype 2-2 na Chinese Male 46 (7.5%)
Genotype 1-1 na Indian Male 9 (2.4%)
Genotype 1-2 na Indian Male 54 (14.4%)
Genotype 2-2 na Indian Male 312 (83.2%)
Genotype 1-1 na Malay Male 48 (18.0%)
Genotype 1-2 na Malay Male 132 (49.4%)
Genotype 2-2 na Malay Male 87 (32.6%)
Genotype 1-1 na na Male 322 (25.6%)
Genotype 1-2 na na Male 489 (38.9%)
Genotype 2-2 na na Male 445 (35.5%)

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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