Introduction. Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 is an enzyme, which is encoded by the ENPP1 gene in humans. This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with іdiopathic infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine, insulin resistance. As the calcification of the atherosclerotic plaque is an untoward prognostic factor of the acute coronary syndrome, the polymorphism of gene ENPP1 can be associated with the disease progression.
The aim was to establish the frequency of allelic variants of the ENPPI gene for K121Q polymorphism in patients of different sexes with acute coronary syndrome (ACS).
Material and Methods. We used venous blood of 118 patients with ACS (22 % women and 78 % men) aged 40 to 73 years (mean age 55.9 ± 0.89 years) who were hospitalized in the cardiology department of Sumy City Clinical Hospital № 1. The control group consisted of 110 patients. Definition of K121Q polymorphism (rs1044498) of ENPPI gene was performed using PCR with the following restriction fragment length analysis of the allocation of them by electrophoresis in agarose gel. Restriction endonuclease Eco47I (AvaII) was used for restriction analysis. Statistical analysis was performed using the software package SPSS-17. Thus, the significance of differences was determined by the χ2-criterion. The value of P < 0.05 was considered as significant.
Results. Using the χ2-Pearson criterion, I did not reveal association between the K121Q polymorphism of ENPPI gene and the development of ACS. Distribution of different types of genotype between patients with ACS and healthy patients did not differ statistically significantly. I pointed out that in patients with ACS value homozygotes for the major allele (K/K) and minor allele carriers (K/Q + Q/Q) were 66.9 and 33.1 %, while in the control group –75.5 and 24.5 %, respectively. Factor P, defined by χ2-Pearson criterion, was equal to 0.157 and indicated a lack of significant difference in the distribution of allelic variants of the gene ENPP1 K121Q polymorphism in patients with ACS and the controls.
The value of the given options polymorphism in females was unreliable in patients with ACS and controls (P = 0.280). The distribution of allelic potions K121Q polymorphism in males also did not differ in comparison to patients with ACS and controls (P = 0.320).
Conclusion. There is no link between the polymorphism K121Q of gene ENPP1 and the acute coronary syndrome in males and females.
Key words: ectonucleotide pyrophosphatase/phosphodiesterase, acute coronary syndrome, allelic polymorphism.
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