Functional Study of-724I/D Polymorphism in Apolipoprotein M (apoM) Gene Promoter Region and its Association with Myocardial Infarction

Source of support: Departmental sources 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). Material/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 fre-quency 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 tran-scription 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 activi-ty 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 expressio