Identification of gene variants associated with hypoxia pathway in acute coronary syndrome: a pilot study

Hypoxic condition is known to play an important role in the development of acute coronary syndrome (ACS) and understanding mechanism of hypoxic effects is essential to develop new treatment strategies for ACS. Based on the phenotypic features of cardiovascular diseases, it is claimed that genetic factors play an important role in the development genome-wide association studies have been studied to clarify the molecular mechanisms underlying heritable and prevalent phenotype. The claim was to investigate possible roles of gene polymorphisms involving in hypoxia pathway on ACS in this pilot study. DNA samples of 100 ACS cases and 100 controls from a Department of Cardiology, Istanbul University, were genotyped with Illumina CytoSNP-12 BeadChip 300 K Array. The additive model used for statistical analysis, and Correlation/Trend Test selected as a statistical process. It was determined different criteria for association analysis as case/control and number of plugged vessels. P value calculated with each SNP and score generated with -log10(P). Also, hypoxia pathway analysis was applied to find statistically significant genes. As a result of bioinformatic analysis, it was claimed that PIAS4 (rs735842) and VEGFA (rs699947) were the most statistically significant variants associated in hypoxia pathway analysis. Due to the information of literature, there have been no prior studies of possible interactions of hypoxia pathways the etiology of acute coroner syndromes in the same research. Detailed studies with larger sample groups are necessary to clarify the role of hypoxia in the development of disease.