A polymorphism in the ABCG1 promoter is functionally associated with coronary artery disease in a Chinese Han population

Abstract Objective In this study, we examine the association of single nucleotide polymorphisms (SNPs) of the human ATP binding cassette transporter G1 (ABCG1) gene with atherosclerotic coronary artery disease (CAD) in a Chinese Han population. Methods 1021 patients with CAD and 1013 unaffected cont...

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Published in:	Atherosclerosis 2011-12, Vol.219 (2), p.648-654
Main Authors:	Xu, Yan, Wang, Wei, Zhang, Li, Qi, Li-Ping, Li, Li-Yun, Chen, Lian-Feng, Fang, Quan, Dang, Ai-Min, Yan, Xiao-Wei
Format:	Article
Language:	eng
Subjects:	3' Untranslated Regions ABCG1 adenosine triphosphate Aged Animals Asian Continental Ancestry Group - genetics atherosclerosis Atherosclerosis (general aspects, experimental research) ATP Binding Cassette Transporter, Sub-Family G, Member 1 ATP-Binding Cassette Transporters - genetics ATP-Binding Cassette Transporters - metabolism Biological and medical sciences Blood and lymphatic vessels Cardiology. Vascular system Cardiovascular Case-Control Studies Chi-Square Distribution China - epidemiology Coronary Angiography Coronary artery disease Coronary Artery Disease - complications Coronary Artery Disease - diagnostic imaging Coronary Artery Disease - ethnology Coronary Artery Disease - genetics Coronary Artery Disease - metabolism Coronary Artery Disease - prevention & control Coronary heart disease Female gene expression Gene Frequency Genes, Reporter Genetic Predisposition to Disease genotype Haplotypes HDL Heart HEK293 Cells Humans Linkage Disequilibrium Lipids - blood Logistic Models luciferase Macrophages - metabolism Male Medical sciences Mice Middle Aged myocardial infarction Myocardial Infarction - genetics Odds Ratio patients Phenotype Polymerase Chain Reaction Polymorphism, Single Nucleotide Promoter promoter regions Promoter Regions, Genetic reporter genes risk Risk Assessment Risk Factors risk reduction Severity of Illness Index single nucleotide polymorphism SNP Transfection
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Summary:	Abstract Objective In this study, we examine the association of single nucleotide polymorphisms (SNPs) of the human ATP binding cassette transporter G1 (ABCG1) gene with atherosclerotic coronary artery disease (CAD) in a Chinese Han population. Methods 1021 patients with CAD and 1013 unaffected control subjects were enrolled. PCR-based ligation detection reaction (PCR-LDR) method was used to genotype four SNPs of ABCG1, three (rs2234714, rs2234715 and rs57137919) in the promoter region and one (rs1044317) in the 3′-untranslated region (UTR). Results The human ABCG1 −367G>A polymorphism (rs57137919) showed a significantly decreased risk for CAD and myocardial infarction (MI) in a dominant model (adjusted OR = 0.73, p = 0.033 for CAD, and adjusted OR = 0.65, p = 0.014 for MI, respectively). The rs57137919 also showed an association with angiographic severity of CAD (multi-vessel vs. single-vessel CAD, adjusted OR = 0.40, p = 0.005). The findings were further supported by luciferase reporter assay, in which the polymorphism impaired reporter gene expression. The ABCG1 −768G>A polymorphism (rs2234714) showed an association with CAD in a recessive model (adjusted OR = 0.64, p = 0.015), but did not demonstrate a functional influence on reporter gene expression in the luciferase reporter assay. Conclusions The SNP rs57137919 in the ABCG1 promoter region is functionally associated with a reduced risk of CAD in a Chinese Han population.
ISSN:	0021-9150 1879-1484