The association of functional polymorphisms in genes expressed in endothelial cells and smooth muscle cells with the myocardial infarction

Hum Genomics. 2019 Jan 24;13(1):5. doi: 10.1186/s40246-018-0189-8.


Background: The association of platelet endothelial cell adhesion molecule 1 (PECAM1), hypoxia-inducible factor 1 subunit alpha (HIF1A), and KIAA1462 in myocardial infarction (MI) was investigated. The study included 401 Han Chinese MI patients and 409 controls. Three tag single-nucleotide polymorphisms (SNPs)-PECAM1 rs1867624, HIF1A rs2057482, and KIAA1462 rs3739998-were selected. SNP genotyping was performed by an improved multiplex ligation detection reaction assay. A systematic review and meta-analysis of studies including 3314 cases and 2687 controls on the association of 5 HIF1A SNPs and the overall risk of MI or coronary artery disease (CAD) was performed.

Results: The rs1867624 variants were associated with high TG concentrations (p = 0.040) and the rs2057482 variants were associated with decreased HDL-C in MI patients compared with the control group (p = 0.003). Rs2057482 SNP interacted with age to influence TC levels. The SNP of rs3739998 interacted with sex and hypertension to modulate CRE and TG levels, respectively (p < 3.04E-5-0.002). No association between the three SNPs and susceptibility to MI was found (p > 0.05 for all). In the meta-analysis of HIF1A, the rs11549465 C > T and rs10873142 T > C polymorphisms, but not rs2057482, rs11549467, and rs41508050, were correlated with overall MI or CAD risk.

Conclusions: Taken together, this study provides additional evidence that genetic variation of the PECAM1 rs1867624 and HIF1A rs2057482 can mediate lipid levels in MI patients.

Keywords: Coronary artery disease; HIF1A; KIAA1462; Myocardial infarction; PECAM1; Single-nucleotide polymorphism.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Asian People / genetics
  • Case-Control Studies
  • Cell Adhesion Molecules / genetics*
  • Coronary Artery Disease / genetics
  • Endothelial Cells / physiology
  • Female
  • Gene Expression
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Hypoxia-Inducible Factor 1, alpha Subunit / genetics*
  • Lipids / blood
  • Lipids / genetics
  • Male
  • Middle Aged
  • Myocardial Infarction / etiology
  • Myocardial Infarction / genetics*
  • Myocardial Infarction / pathology
  • Myocytes, Smooth Muscle / physiology
  • Platelet Endothelial Cell Adhesion Molecule-1 / genetics*
  • Polymorphism, Single Nucleotide*
  • Smoking / genetics


  • Cell Adhesion Molecules
  • HIF1A protein, human
  • Hypoxia-Inducible Factor 1, alpha Subunit
  • JCAD protein, human
  • Lipids
  • PECAM1 protein, human
  • Platelet Endothelial Cell Adhesion Molecule-1