2658-6533Research Results in Biomedicine2658-653310.18413/2658-6533-2023-9-4-0-33245Genetics<strong>The link of single nucleotide polymorphism rs4880 of the <em>SOD2</em> gene to the development of microvascular complications of type 2 diabetes mellitus</strong><strong>The link of single nucleotide polymorphism rs4880 of the <em>SOD2</em> gene to the development of microvascular complications of type 2 diabetes mellitus</strong>AzarovaIuliia E.AzarovaIuliia E.azzzzar@yandex.ruGureevaAnastasia V.GureevaAnastasia V.nastasyi.207@gmail.comPostnikovaMariia I.PostnikovaMariia I.postnikova0700@icloud.comMakarenkoVictor V.MakarenkoVictor V.vm200046@gmail.comKlyosovaElena Yu.KlyosovaElena Yu.ecless@yandex.ruPolonikovAlexei V.PolonikovAlexei V.polonikov@rambler.ru20239400

Background: The superoxide dismutase 2 (SOD2) gene encodes a mitochondrial enzyme whose main function is to convert superoxide anion to hydrogen peroxide. A genetically determined decrease in the activity of the SOD2 enzyme in the case of a single nucleotide variant rs4880 (A&gt;G) may contribute to the development of redox imbalance in the mitochondria of beta cells of the pancreas and other tissues, which have pathogenic significance in the occurrence of type 2 diabetes mellitus (T2DM) and its microvascular complications. The aim of the study: To analyze the association of the missense variant rs4880 SOD2, leading to the replacement of valine with alanine in the protein product of the gene, with the risk of developing T2D and its microvascular complications &ndash; diabetic retinopathy (DR) and nephropathy (DNF). Materials and methods: The study included 3206 subjects, residents of Central Russia, 1579 of whom were diagnosed with T2D. At the same time, DR was detected in 991 patients with T2D, and DNF was detected in 544 patients with T2D. Genotyping was performed by real-time polymerase chain reaction on a Bio-Rad CFX1000 thermal cycler using TaqMan probes. Statistical analysis of associations was performed using the SNPStats online program. Results: An association was established for the minor allele G (OR=1.26, 95% CI=1.02-1.56, P=0.033), as well as genotypes A/G and G/G rs4880 (OR=1.51, 95% CI=1.09-2.11, P=0.015) with a risk of developing DR in females with T2D. No statistically significant associations with T2D and the development of DNF were identified: P&gt;0.05. Conclusion: Carriage of the minor allele rs4880-G is a genetic marker of an increased risk of developing diabetic retinopathy in females with T2D.

Background: The superoxide dismutase 2 (SOD2) gene encodes a mitochondrial enzyme whose main function is to convert superoxide anion to hydrogen peroxide. A genetically determined decrease in the activity of the SOD2 enzyme in the case of a single nucleotide variant rs4880 (A&gt;G) may contribute to the development of redox imbalance in the mitochondria of beta cells of the pancreas and other tissues, which have pathogenic significance in the occurrence of type 2 diabetes mellitus (T2DM) and its microvascular complications. The aim of the study: To analyze the association of the missense variant rs4880 SOD2, leading to the replacement of valine with alanine in the protein product of the gene, with the risk of developing T2D and its microvascular complications &ndash; diabetic retinopathy (DR) and nephropathy (DNF). Materials and methods: The study included 3206 subjects, residents of Central Russia, 1579 of whom were diagnosed with T2D. At the same time, DR was detected in 991 patients with T2D, and DNF was detected in 544 patients with T2D. Genotyping was performed by real-time polymerase chain reaction on a Bio-Rad CFX1000 thermal cycler using TaqMan probes. Statistical analysis of associations was performed using the SNPStats online program. Results: An association was established for the minor allele G (OR=1.26, 95% CI=1.02-1.56, P=0.033), as well as genotypes A/G and G/G rs4880 (OR=1.51, 95% CI=1.09-2.11, P=0.015) with a risk of developing DR in females with T2D. No statistically significant associations with T2D and the development of DNF were identified: P&gt;0.05. Conclusion: Carriage of the minor allele rs4880-G is a genetic marker of an increased risk of developing diabetic retinopathy in females with T2D.

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