Abstract
Ectonucleotide Pyrophosphatase Phosphodiesterase 1 (ENPP1) is a class II membrane glycoprotein with two unrelated properties: It can hydrolyze extracellular nucleotides and downregulate insulin receptor signaling. The present study was carried out to investigate whether common single-nucleotide polymorphism K121Q (rs1044498) of the ENPP1 gene is associated with Acute Coronary Syndrome (ACS) in the representatives of Ukrainian population and to assess if the risk depends on gender and Body Mass Index (BMI). A total 228 DNA samples (118 ACS patients and 110 control subjects) were genotyped for the polymorphism by PCR and restriction fragment length polymorphism method. No associations between the K121Q polymorphisms and ACS were found neither on the whole nor taking into account the gender. However, in the persons with BMI
Highlights
Ectonucleotide Pyrophosphatase Phosphodiesterase 1 (ENPP1), known as plasma cell membrane glycoprotein 1 (PC-1), belongs to a class II membrane glycoprotein which is widely expressed in many organs and tissues of the human and animal organisms
The results of RFLP analysis of ENPP1 K121Q polymorphism are demonstrated. In both groups we studied, the genotype distributions of the ENPP1 K121Q polymorphism were in Hardy-Weinberg equilibrium
We showed that ENPP1 gene K121Q polymorphism is related to Acute Coronary Syndrome (ACS) only in nondiabetic patients with normal weight and fasting glucose levels
Summary
Ectonucleotide Pyrophosphatase Phosphodiesterase 1 (ENPP1), known as plasma cell membrane glycoprotein 1 (PC-1), belongs to a class II membrane glycoprotein which is widely expressed in many organs and tissues of the human and animal organisms (liver, skeletal muscle, heart, brain, kidney, lung, adipose tissue, etc.). The first group is about the ability of ENPP1 to influence insulin sensitivity by downregulating insulin receptor signaling (Dong et al, 2005). It was shown that over-expression of ENPP1 inhibits tyrosine kinase activity with subsequent diminishing insulin receptor autophosphorylation in various cells (Maddux and Goldfine, 2000). This property of ENPP1 is considered to be in association with insulin resistance and type 2 diabetes (Goldfine et al, 2007). It is known that inorganic Pyrophosphate (PPi) is one of the most important inhibitor of soft tissues mineralization (Abedin et al, 2004; Shao et al, 2006). The main way of PPi generating is hydrolysis of extracellular nucleoside
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
