Endocrine Abstracts

The aim of the study was to identify a possible association of the G894T (rs 1799983) polymorphism of the endothelial nitric oxide synthase (eNOS) gene with indicators of renal function and glucose metabolism in patients with type 2 diabetes mellitus (DM) with nephropathy.

Materials and methods: In the course of the study, 126 patients with diabetic nephropathy (DN) were examined. The control group consisted of 20 healthy individuals. After the initial examination, depending on the polymorphic variant rs 1799983 of the eNOS gene, patients with type 2 diabetes were divided into two groups: Group I - patients with DM - carriers of the G/G genotype of the G894T (rs 1799983) polymorphism of the eNOS gene (n=80); Group II - patients with DM - carriers of the G/T and T/T genotypes of the G894T (rs 1799983) polymorphism of the eNOS gene (n=46). Genotyping of the rs 1799983 polymorphism of the eNOS gene was performed using the Taq-Man® Fast Universal PCR Master Mix and TaqMan® SNP Assay.

Results and discussion: Our studies have shown that in patients with DN, the distribution of genotypes of the G894T polymorphism of the eNOS gene corresponds to the Hardy-Weinberg equilibrium in all studied groups and does not differ significantly from European populations. In the group of patients with DM with DN, the total frequency of G/T and T/T genotypes of the G894T polymorphism of the eNOS gene is 3 times higher than in the control group, which proves the undoubted influence of the T allele on the development of DN in this cohort of patients. Patients with DN - carriers of the mutant T allele (genotypes G/T and T/T) have significantly higher blood glucose and HOMA index (P<0.05) than homozygotes (genotype G/G). In patients with DN - carriers of the G/G genotype, the studied polymorphisms have better glomerular filtration rate and lower albuminuria compared to carriers of the G/T and T/T genotypes, P<0.05.

Conclusions: Establishing the association of eNOS gene polymorphism with the disease and further assessment of individual genetic risk is important for the development of a differentiated approach to the prevention and treatment of diabetic nephropathy in patients with type 2 diabetes depending on the hereditary predisposition of a particular patient.