title: 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 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.
authors: Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 1 Shuaifuyuan, Dong Cheng District, Beijing 100730, China.
authors: Yan
authors: Y
authors: Xu
authors: Wei
authors: W
authors: Wang
authors: Li
authors: L
authors: Zhang
authors: Li-Ping
authors: LP
authors: Qi
authors: Li-Yun
authors: LY
authors: Li
authors: Lian-Feng
authors: LF
authors: Chen
authors: Quan
authors: Q
authors: Fang
authors: Ai-Min
authors: AM
authors: Dang
authors: Xiao-Wei
authors: XW
authors: Yan
mesh_terms: D020413:3' Untranslated Regions; D000070998:ATP Binding Cassette Transporter, Subfamily G, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D000368:Aged; D000818:Animals; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D017023:Coronary Angiography; D003324:Coronary Artery Disease / Q000150:complications / Q000000981:diagnostic imaging / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism / Q000517:prevention & control; D005260:Female; D005787:Gene Frequency; D017930:Genes, Reporter; D020022:Genetic Predisposition to Disease; D057809:HEK293 Cells; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008055:Lipids / Q000097:blood; D016015:Logistic Models; D008264:Macrophages / Q000378:metabolism; D008297:Male; D051379:Mice; D008875:Middle Aged; D009203:Myocardial Infarction / Q000235:genetics; D016017:Odds Ratio; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D018570:Risk Assessment; D012307:Risk Factors; D012720:Severity of Illness Index; D014162:Transfection
chemical_list: D020413:3' Untranslated Regions; C419353:ABCG1 protein, human; D000070998:ATP Binding Cassette Transporter, Subfamily G, Member 1; D018528:ATP-Binding Cassette Transporters; D008055:Lipids