Thrombophilic gene variants in patients with coronary artery disease and myocardial infarction

Background and aim: Coronary artery disease (CAD) and myocardial infarction (MI) are cardiovascular diseases that occur due to atherosclerosis (plaque formation) or atherosclerotic obstruction of the coronary arteries. Their genetic basis has been under investigation for a long time, and common variant studies link different genetic loci with these diseases. In this study, we investigated the possible association of coronary artery disease and myocardial infarction with thrombophilic gene variants, including MTHFR C677T and A1298C, Beta fibrinogen -455G/A, Factor XIIIV34L and PAI-1 4G/5G single nucleotide polymorphisms (SNPs). Methods: A total of 128 people (64 patients and 64 controls) were included in the study. Genomic DNA was isolated using the EZ1 blood mini kit. The DNA was amplified and PCR was performed using the PyroMark PCR Kit (Qiagen, Germany). Pyrosequencing reaction was completed by processing with PyroMark Q24 instrument. Results: We found that the PAI-1 4G/5G polymorphism and the 4G allele were significantly associated with coronary artery disease and myocardial infarction (P= 0.01). Although mutant variants were higher in patients, no statistically significant difference was observed between the patient and control groups in terms of FXIII, Beta-fibrinogen and MTHFR variants. Conclusions: It is clear that the PAI-1 4G allele and the 4G/4G genotype have a significant contribution to the development of coronary artery disease and ultimately myocardial infarction. Prophylactic treatment should be considered in patients with this variant.