Analysis of Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Gene K121Q Polymorphism Association with Some Risk Factors of Atherosclerosis in Patients with Acute Coronary Syndrome

Abstract

⎯The present study was performed to investigate whether common single-nucleotide polymorphism K121Q (rs1044498) of the ENPP1 gene is associated with the known risk factors of atherosclerosis (overweight, dyslipoproteinemia, hypertension, diabetes, smoking, and hypercoagulability) in persons with acute coronary syndrome. Venous blood of 118 patients was genotyped for the polymorphism by PCR and restriction fragment length polymorphism method. In patients divided into two subgroups according to their genotype (KK and KQ + QQ), the statistically significant differences were revealed only for plasma LDL-cholesterol level and fibrinolytic activity. The carriers of minor allele (KQ + QQ) had lower LDL-cholesterol concentration and the time of fibrinolysis than the major allele homozygotes (KK). The division of patients into subgroups according to presence or absence of some risk factors for atherosclerosis showed no statistically significant differences between K121Q genotype distributions for any of the comparison.

The relationship between phosphodiesterase 4D gene polymorphism and coronary heart disease

“…Each subtype is distributed, expressed, regulated, and sensitive to inhibitors in the cell. Differently, they are involved in the occurrence and development of various pathological processes such as inflammation, asthma, depression, and erectile dysfunction (6). These characteristics have made PDE more and more attention as a new drug target.…”

“…There are many studies on phosphodiesterase 4D (PDE4D) gene polymorphism. Ataman explored the relationship between phosphodiesterase 4D gene and interleukin 6 receptor gene polymorphisms and ischemic stroke in hypertensive people and selected the polymorphic loci rs12188950 and rs918592 in PDE4D to analyze the relationship between cases and controls genotype and association (6). Chien believes that the phosphodiesterase 4D gene is an important factor in regulating atherosclerosis in patients with coronary heart disease, so the polymorphism of the phosphodiesterase 4D gene is related to coronary heart disease (7).…”