The relationship of the polymorphism rs1799983 NOS3 gene with type 2 diabetes mellitus and the development of its complications
Year: 2018
Type: article
Study design: Observational Study
Abstract: The vascular complications of diabetes mellitus (DM) may be determined by the development of endothelial dysfunction (EDF), the development of which, in turn, may depend on the polymorphism of the genes regulating the state of the endothelium. Aim: to analyze the results of the determination of association of polymorphism rs1799983 of the NOS3 gene with DM 2 type, development of complications, clinical and laboratory parameters characterizing the severity of the course of the disease and the development of EDF. Material and methods. The study involved 152 patients with DM 2 type, aged 34-80 years (53.9±8.4 years). The control group involved 95 healthy persons. The results of clinical and laboratory tests determined the presence of retinopathy, nephropathy by levels of microalbuminuria and glomerular filtration rate, sensory polyneuropathy, angiopathy of the lower extremities, and arterial hypertension. Polymorphism rs1799983 was determined by real-time polymerase chain reaction (Gene Amp® PCR System 7500 Applied Biosystems, USA) using TaqMan Mutation Detection Assays Life-Technology (USA) test systems. Statistica 10 (StatSoft, Inc., USA) was used to statistically process the data obtained. Results and discussion. In patients with DM 2 type in the Ukrainian population, the distribution of alleles T rs1799983 was associated with the development of the disease (χ2=5.82; p=0.016). Allele T increased by 1.6 times (OR=1.59; 95% CІ 1.09-2.32) chances of development of DM 2 type; the dominant model of inheritance (G/G versus G/T+T/T) was probable: OR=1.92; 95% CI 0.94-3.93 (p=0.045). Allele T contributed to a higher level of HbA1С, increased levels of creatinine, microalbuminuria, and reduced glomerular filtration, which could be associated with lower levels of nitric oxide (NO) and eNOS. This, in our opinion, determined the effect of allele T on the presence of nephropathy at the rate of glomerular filtration (χ2=8.00; p=0.005) and the level of microalbuminuria (χ22=4.81; p=0.028) and justified its effect on the presence of arterial hypertension (χ2=4.74; p=0.029). Conclusion. Polymorphism rs1799983 of the NOS3 gene, which leads to a decrease in the eNOS activity, is relevant to the development of nephropathy and arterial hypertension in patients with DM 2 type in the Ukrainian population.
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W2908443182