Analysis of ectonucleotide pyrophosphatase/phosphodiesterase 1 gene K121Q polymorphism association with some risk factors of atherosclerosis in patients with acute coronary syndrome

Ataman A.V., Harbuzova V.Yu., Obukhova O.A., Dubovyk Y.I.

SUMMARY. 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 118 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 low plasma LDL-cholesterol level and fibrinolytic activity. The carriers of minor allele (KQ+QQ) had lower LDL-cholesterol concentration and a shorter period of fibrinolysis than the major allele homozygotes (KK). The division of patients into subgroups according to the presence or absence of some risk factors for atherosclerosis showed no statistically significant differences between K121Q genotype distributions for any of the comparison.

Key words: ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1), acute coronary syndrome, single nucleotide polymorphism, risk factors

Tsitologiya i Genetika 2018, vol. 52, no. 2, pp. 51-57

E-mail: v.garbuzova med.sumdu.edu.ua

Ataman A.V., Harbuzova V.Yu., Obukhova O.A., Dubovyk Y.I. Analysis of ectonucleotide pyrophosphatase/phosphodiesterase 1 gene K121Q polymorphism association with some risk factors of atherosclerosis in patients with acute coronary syndrome, Tsitol Genet., 2018, vol. 52, no. 2, pp. 51-57.

In "Cytology and Genetics":
A. V. Ataman, V. Yu. Harbuzova, O. A. Obukhova, Ye. I. Dubovyk Analysis of Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Gene K121Q Polymorphism Association with Some Risk Factors of Atherosclerosis in Patients with Acute Coronary Syndrome, Cytol Genet., 2018, vol. 52, no. 2, pp. 127–131
DOI: 10.3103/S0095452718020020