title: Functional study of -724I/D polymorphism in apolipoprotein M (apoM) gene promoter region and its association with myocardial infarction.
abstract: BACKGROUND
  The aim of this study was to detect the function of -724I/D polymorphism in the apolipoprotein M (apoM) gene promoter region and to determine its relationship with myocardial infarction (MI).
  
  
  METHODS
  We selected 309 patients with MI and 309 healthy controls for this case-control study. The PCR products of the apoM gene promoter region were directly sequenced to analyze the -724I/D polymorphism. Differences in frequency distributions of genotype and allele were compared between the MI group and the control group. We used gene recombination and site-directed mutagenesis technique to observe the impact of -724 I/D on transcription activity of apoM gene promoter in vitro.
  
  
  RESULTS
  The allele frequency of the -724Del in the MI group was higher than that in the control group (9.5% vs. 3.2%, OR=3.156, 95% CI (1.876~5.309), P<0.001). Compared to the I/I genotype carriers, the apoM levels decreased but the total cholesterol (TC) levels increased significantly in the -724Del allele carriers in plasma. The activity of apoM I/I genotype promoter decreased significantly after the deletion mutation at -724 position in apoM gene.
  
  
  CONCLUSIONS
  -724 I/D polymorphism decreases the apoM promoter activity, down-regulates the apoM protein expression level, and increases the risk of MI.
authors: Department of Geriatric Cardiology, Jinling Hospital, Nanjing Clinical Medical College, Second Military Medical University, Nanjing, Jiangsu, China (mainland).
authors: Hua
authors: H
authors: Guo
authors: Department of Cardiology, Changhai Hospital, Second Military Medical University, Shanghai, China (mainland).
authors: Xian-Xian
authors: XX
authors: Zhao
authors: Dialysis Center, Jingdu Hospital, Nanjing, Jiangsu, China (mainland).
authors: Xiao-Juan
authors: XJ
authors: Zhang
authors: Department of Otolaryngology - Head and Neck Surgery, Jinling Hospital, Nanjing, Jiangsu, China (mainland).
authors: Wei
authors: W
authors: Chen
authors: Department of Geriatric Cardiology, Jinling Hospital, Nanjing University, School of Medicine, Nanjing, Jiangsu, China (mainland).
authors: Jie
authors: J
authors: Zhang
mesh_terms: D000368:Aged; D000483:Alleles; D001053:Apolipoproteins / Q000235:genetics*; D000075243:Apolipoproteins M; D016022:Case-Control Studies; D008076:Cholesterol, HDL / Q000378:metabolism; D017023:Coronary Angiography; D003324:Coronary Artery Disease / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D054834:Lipocalins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009203:Myocardial Infarction / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: C400523:APOM protein, human; D001053:Apolipoproteins; D000075243:Apolipoproteins M; D008076:Cholesterol, HDL; D054834:Lipocalins
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