Objective: Introduction: Genome-Wide Association Studies have identified a large number of polymorphic loci associated with type 2 diabetes mellitus (T2DM). Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) gene is one of the candidate genes which have primary importance in T2DM development. Several studies revealed the association between ENPP1 polymorphisms, including rs997509, and T2DM, obesity, insulin resistance and metabolic syndrome in different populations. The aim: To test the association between ENPP1 rs997509 polymorphism and T2DM development in patients with different risk factors in the Ukrainian population.
Patients and methods: Materials and methods: Venous blood of 317 unrelated T2DM patients and 302 healthy volunteers was used for analysis. ENPP1 rs997509 genotyping was performed using PCR-RFLP (polymerase chain reaction with following restriction fragment length polymorphism analysis) method.
Results: Results: Our results revealed that ratio of C/C homozygotes, C/T heterozygotes and T/T homozygotes between case and control groups was significantly different (89.0 % , 11.0%, 0 % vs 94.4 %, 5.6 %, 0 %, P = 0.015). It was shown that risk of T2DM development in T allele carriers is significantly higher compared to C/C homozygotes (OR = 2.086; P= 0.027). Herewith the risk increased in heterozygotes with BMI ≥ 25 kg/m2 (OR = 2.223, P=0.031) and obesity (OR = 3.230; P = 0.023).
Conclusion: Conclusions: ENPP1 rs997509 polymorphism is associated with T2DM development in Ukrainian population.
Keywords: ENPP1; gene polymorphism; type 2 diabetes mellitus.