VEGF and eNOS genes polymorphism features in patients with diabetes mellitus with and without initial non-proliferative diabetic retinopathy

The endothelial NO synthase (eNOS) and vascular endothelial growth factor (VEGF) imbalance and the polymorphism of these genes may be the predisposition for diabetic retinopathy (DR) development and progression.The aim: to analyze VEGF (rs699947 and rs3025039) and eNOS (rs2070744) genes polymorphism...

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Main Authors: A. V. Shevchenko, V. F. Prokof`ev, V. I. Konenkov, V. V. Klimontov, D. V. Chernykh, A. N. Trunov, A. V. Eremina, V. V. Chernykh
Format: Article
Language:Russian
Published: Scientific Сentre for Family Health and Human Reproduction Problems 2021-12-01
Series:Acta Biomedica Scientifica
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Online Access:https://www.actabiomedica.ru/jour/article/view/3121
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author A. V. Shevchenko
V. F. Prokof`ev
V. I. Konenkov
V. V. Klimontov
D. V. Chernykh
A. N. Trunov
A. V. Eremina
V. V. Chernykh
author_facet A. V. Shevchenko
V. F. Prokof`ev
V. I. Konenkov
V. V. Klimontov
D. V. Chernykh
A. N. Trunov
A. V. Eremina
V. V. Chernykh
author_sort A. V. Shevchenko
collection DOAJ
description The endothelial NO synthase (eNOS) and vascular endothelial growth factor (VEGF) imbalance and the polymorphism of these genes may be the predisposition for diabetic retinopathy (DR) development and progression.The aim: to analyze VEGF (rs699947 and rs3025039) and eNOS (rs2070744) genes polymorphism and their combinations in patients with type 2 diabetes mellitus (DM2) with and without initial non-proliferative DR.Materials and methods. The study included 200 patients with type 2 diabetes (155 women and 45 men, age – 43–70 years): 111 people without and 89 people with DR. The polymorphism of the regulatory regions of VEGF (rs699947 and rs3025039) and eNOS (rs2070744) genes was studied using restriction fragment length polymorphism analysis and TaqMan Real-Time PCR by. Statistical processing was carried out using the software packages Statistica 10.0, SPSS Statistics 23 and the package of original programs for volumetric processing of bioinformation.Results. The VEGF-2578 heterozygosity and two complex genotypes – VEGF-2578CA:VEGF+936CC and NOS3-786CT:VEGF-2578CA:VEGF+936CC – signifi cantly decreased in patients with DR. The predisposition to early DR development to minor genotype of eNOS gene in the NOS3-786CC:VEGF+936CT complex and signifi cantly decreased the homozygous wild-type eNOS genotype in DM2 patients with ophthalmopathology were shown. NOS3-86TT:VEGF2578AA genotype signifi cantly decreased in group with retinopathy developing and the glycated hemoglobin high level.Conclusion. Along with the clinical risk factors for the development of DR in DM2, the genetic polymorphism of the regulatory regions of the genes analyzed by us has a signifi cant weight. When analyzing potential genetic markers, it is important to consider possible joint epistatic/hypostatic effects. The complex analysis of polymorphic gene can help early prognosis of the DR development.
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spelling doaj-art-6fb488076de541ee974dce2dccf166a52025-08-20T03:56:53ZrusScientific Сentre for Family Health and Human Reproduction ProblemsActa Biomedica Scientifica2541-94202587-95962021-12-0166-114415210.29413/ABS.2021-6.6-1.172251VEGF and eNOS genes polymorphism features in patients with diabetes mellitus with and without initial non-proliferative diabetic retinopathyA. V. Shevchenko0V. F. Prokof`ev1V. I. Konenkov2V. V. Klimontov3D. V. Chernykh4A. N. Trunov5A. V. Eremina6V. V. Chernykh7Research Institute of Clinical and Experimental Lymрhology – Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences Research Institute of Clinical and Experimental Lymрhology – Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences Research Institute of Clinical and Experimental Lymрhology – Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences Research Institute of Clinical and Experimental Lymрhology – Branch of the Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences Novosibirsk Branch of the S. Fyodorov Eye Microsurgery Federal State Institution Novosibirsk Branch of the S. Fyodorov Eye Microsurgery Federal State Institution Novosibirsk Branch of the S. Fyodorov Eye Microsurgery Federal State Institution Novosibirsk Branch of the S. Fyodorov Eye Microsurgery Federal State Institution The endothelial NO synthase (eNOS) and vascular endothelial growth factor (VEGF) imbalance and the polymorphism of these genes may be the predisposition for diabetic retinopathy (DR) development and progression.The aim: to analyze VEGF (rs699947 and rs3025039) and eNOS (rs2070744) genes polymorphism and their combinations in patients with type 2 diabetes mellitus (DM2) with and without initial non-proliferative DR.Materials and methods. The study included 200 patients with type 2 diabetes (155 women and 45 men, age – 43–70 years): 111 people without and 89 people with DR. The polymorphism of the regulatory regions of VEGF (rs699947 and rs3025039) and eNOS (rs2070744) genes was studied using restriction fragment length polymorphism analysis and TaqMan Real-Time PCR by. Statistical processing was carried out using the software packages Statistica 10.0, SPSS Statistics 23 and the package of original programs for volumetric processing of bioinformation.Results. The VEGF-2578 heterozygosity and two complex genotypes – VEGF-2578CA:VEGF+936CC and NOS3-786CT:VEGF-2578CA:VEGF+936CC – signifi cantly decreased in patients with DR. The predisposition to early DR development to minor genotype of eNOS gene in the NOS3-786CC:VEGF+936CT complex and signifi cantly decreased the homozygous wild-type eNOS genotype in DM2 patients with ophthalmopathology were shown. NOS3-86TT:VEGF2578AA genotype signifi cantly decreased in group with retinopathy developing and the glycated hemoglobin high level.Conclusion. Along with the clinical risk factors for the development of DR in DM2, the genetic polymorphism of the regulatory regions of the genes analyzed by us has a signifi cant weight. When analyzing potential genetic markers, it is important to consider possible joint epistatic/hypostatic effects. The complex analysis of polymorphic gene can help early prognosis of the DR development.https://www.actabiomedica.ru/jour/article/view/3121non-proliferative retinopathyvegf polymorphismenos polymorphismcomplex genotypes
spellingShingle A. V. Shevchenko
V. F. Prokof`ev
V. I. Konenkov
V. V. Klimontov
D. V. Chernykh
A. N. Trunov
A. V. Eremina
V. V. Chernykh
VEGF and eNOS genes polymorphism features in patients with diabetes mellitus with and without initial non-proliferative diabetic retinopathy
Acta Biomedica Scientifica
non-proliferative retinopathy
vegf polymorphism
enos polymorphism
complex genotypes
title VEGF and eNOS genes polymorphism features in patients with diabetes mellitus with and without initial non-proliferative diabetic retinopathy
title_full VEGF and eNOS genes polymorphism features in patients with diabetes mellitus with and without initial non-proliferative diabetic retinopathy
title_fullStr VEGF and eNOS genes polymorphism features in patients with diabetes mellitus with and without initial non-proliferative diabetic retinopathy
title_full_unstemmed VEGF and eNOS genes polymorphism features in patients with diabetes mellitus with and without initial non-proliferative diabetic retinopathy
title_short VEGF and eNOS genes polymorphism features in patients with diabetes mellitus with and without initial non-proliferative diabetic retinopathy
title_sort vegf and enos genes polymorphism features in patients with diabetes mellitus with and without initial non proliferative diabetic retinopathy
topic non-proliferative retinopathy
vegf polymorphism
enos polymorphism
complex genotypes
url https://www.actabiomedica.ru/jour/article/view/3121
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