Analysis of rs997509-polymorphism of ENPP1 gene impact on some risk factors of type 2 diabetes

The study of the impact of various risk factors on the mechanisms of diabetes development is still one of the most pressing problems of modern medicine. This leads to the study of potential diabetes markers for early diagnosis of the development and progression of its complications, and in the long term, and new therapeutic options. The genetic polymorphism of ENPP1 – rs997509 can serve a hereditary factor for the development of type 2 diabetes (T2DM). The purpose of the study was to test the association between ENPP1 rs997509 polymorphism and T2DM development in patients with different risk factors in the Ukrainian population. Materials and methods. Venous blood of 317 patients with T2DM 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 and discussion. All the surveyed were divided into subgroups according to such factors as sex, smoking, and concomitant arterial hypertension. As a result of genotyping these subgroups of patients, we observed a significant difference in the ratio of homozygotes for the main allele (C/C) and carriers of the minor T-allele (C/T+T/T) for rs997509-polymorphism of the ENPP1 gene in patients with T2D and control group in women (P = 0.024) and subjects with hypertension (P = 0.013). It was shown that in the carriers of the minor T-allele the risk of development of T2D was significantly higher than that of the homozygote by the main allele in females (OR = 3.038; P = 0.031) and with concomitant hypertension (OR = 3.271; P = 0.018). Conclusions. The risk of developing T2DM is significantly higher in the carriers of the SNP rs997509 minor T allele of the ENPP1 gene, than that of the homozygote in the main C allele. The risk is significantly increased in females with concomitant hypertension.