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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: OBJECTIVE, METHODS, RESULTS. Meshes: 3' Untranslated Regions, ATP Binding Cassette Transporter, Subfamily G, Member 1, ATP-Binding Cassette Transporters, Aged, Animals, Asian Continental Ancestry Group, Case-Control Studies, Chi-Square Distribution, China, Coronary Angiography, Coronary Artery Disease, Female, Gene Frequency, Genes, Reporter, Genetic Predisposition to Disease, HEK293 Cells, Haplotypes, Humans, Linkage Disequilibrium, Lipids, Logistic Models, Macrophages, Male, Mice, Middle Aged, Myocardial Infarction, Odds Ratio, Phenotype, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, Risk Assessment, Risk Factors, Severity of Illness Index, Transfection.
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Is a polymorphism in the ABCG1 promoter functionally associated with coronary artery disease in a Chinese Han population? Context: 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. 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). 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.
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The SNP rs57137919 in the ABCG1 promoter region is functionally associated with a reduced risk of CAD in a Chinese Han population. Final Decision: yes