Features of Genetic Polymorphism in Population with Diabetic Nephropathia: Literature Review

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O. O. Jabborov


The increasing prevalence of diabetes mellitus has led to a growing number of chronic complications including diabetic nephropathy (DN). In high prevalence of diabetes mellitus, DN is associated with high morbidity and mortality primarily due to cardiovascular diseases. Genetic factors play a significant role in the pathogenesis of DN and genetically susceptible individuals that can develop after being exposed to environmental parameters. DN is assumed to be a complex, polygenic disease. Genetic predisposition to diabetes is familial, and often with concomitant obesity. A number of detected polymorphisms in genes is a predisposing risk factor for the development of type 2 diabetes. Two main categories have been used to identify the genes associated with DN: (1) analysis of candidate genes, and (2) more recently genome-wide scan. A significant effort has been made to identify these main genes, whereas results are still inconsistent with different genes associated to a small effect in specific populations. A variety of genetic markers characteristic of different population groups confirms the special significance of the ethnic component for identifying hereditary risks, which determines the relevance and need for a detailed, comprehensive study of the genetic basis of type 2 diabetes.

Diabetes mellitus, nephropathy, genetics, genetic predisposition, population, polymorphism

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Jabborov, O. O. (2019). Features of Genetic Polymorphism in Population with Diabetic Nephropathia: Literature Review. Journal of Advances in Medicine and Medical Research, 29(9), 1-7. https://doi.org/10.9734/jammr/2019/v29i930123
Review Article


Dedov II, Shestakova MV. Algorithms of specialized medical care for patients with diabetes. M. 2013;118.

Parkhomenko N, Kozhuhov SN, Lutaya M, Moybenko AA, Dosenko E. T-786C polymorphism of promotergen endothelial NO synthase: A link with the effectiveness of thrombolytic therapy of patients with acute myocardial infarction. Ukr. Herald log. 2008;4(66):20-23.

Giusti B, Gori AM, Marcucci R, Sestini I, Saracini C, Sticchi E, et al. Role of C677T and A1298C MTHFR, A2756G MTR and -786 T/C eNOS gene polymorphisms in atrial fibrillation susceptibility, PLoS One. 2007;2:495.

Thameem F, Puppala S, Arar NH, Stern MP, Blangero J, Duggirala R, et al. Endothelial nitric oxide synthase (eNOS) gene polymorphisms and their association with type 2 diabetes-related traits in Mexican Americans, Diab. Vasc. Dis. Res. 2008;5:109-113.

Bondar IA, Shabelnikova O. Yu. Genetic bases of type 2 diabetes // Diabetes mellitus. 2013;4:11-16.

Berstneva SV, Dubinina II, Pronkina VV. Association of the polymorphic marker T-786C of the NOS3 gene with impaired endothelial function and increased stiffness of the arteries in patients with diabetes mellitus in combination with hypothyroidism/ Mater Pallrussia. Diabetic congress. Moscow. 2015;32.

Levit Sh, Filippov YuI, Gorelyshev AS. Type 2 diabetes mellitus: Time to change the concept // Diabetes mellitus. 2013;4: 91-102.

Zheleznyakova AV, Lebedeva NO, Vikulova OK, Nosikov VV, Shamkhalova M Sh, Shestakova MV. The risk of developing chronic kidney disease in patients with type 2 diabetes mellitus is determined by the polymorphism of the NOS3, APOB, KCNJ11, TCF7L2 genes. Diabetes. 2014; 3:23-30.

Potapov VA. Search for genetic markers that determine the predisposition to diabetes mellitus type 2: Author's thesis for Candidate biol. sciences. M. 2010;24.

Pakhomya NS, Uryasev OM, Shakhanov AV. The role of polymorphisms of some genes in the implementation of arterial hypertension. Zemsky Doctor. 2014; 3-4(24):21-24.

Savelieva SA, Kryachkova AA, Zheleznyakova AV, et al. The study of the polymorphic marker Pro12Ala of the gene of the γ form of receptors activated by proliferator peroxis in patients with type 2 diabetes with diabetic nephropathy // Mater. VII Congress of the Scientific Society of Nephrologists of Russia. M., 2010;C:110-111.

Diabetes. Acute and chronic complications. Ed. I.I. Dedova, M.V. Shestakova. M: MIA, 2011;197.

Hamnueva L. Yu, Andreeva LS, Shagun OV. Diabetes mellitus and its complications: Modern principles of diagnosis, treatment and prevention. Irkutsk: IGMU. 2011;138.

Shestakova MV, Shamkhalova M. Sh, Yarek-Martynova I. Ya. Diabetes mellitus and chronic kidney disease: Achievements, unresolved problems and prospects for treatment // Diabetes mellitus. 2011;1:81-87.

Shestakova MV. Diabetes mellitus and chronic kidney disease: modern diagnosis and treatment. Bulletin of RAMS. 2012;1: 45-49.

ADVANCE Collaborative Group, Patel A, MacMahon S, et al. Intensive blood glucose control and vascular outcomes in patients with type 2 diabetes// N Engl J Med. 2008;358(24):2560-72.

Borg H, Arnqvist HJ, Bjork E, Bolinder J, Eriksson JW, Nystrom L, et al. Evaluation of the new ADA and WHO criteria for classification of diabetes mellitus in young adult people (15-34 yrs) in the Diabetes Incidence Study in Sweden (DISS), Diabetologia, 2003;46:173-181. Erratum in, Diabetologia. 2004;47:154.

Coll-de-Tuero G, Mata-Cases M, Rodriguez-Poncelas A, et al. Chronic kidney disease in the type 2 diabetic patients: Prevalence and associated variables in a random sample of 2642 patients of a Mediterranean area// BMC Nephrology. 2012;13:87-95.

Diabetic patients, effect of ACE gene DD on the progression of diabetic nephropathy, Am. J. Kidney. Dis. 2003;41: 943-949.

Balabolkin MI, Dedov II, Klebanova EM. Insulin resistance. Molecular genetic mechanisms of development, diagnosis and correction in type 2 diabetes. M. 2007;36.

Dellamea BS, Pinto LC, Leitao CB, Santos KG, Canani LH. Endothelial nitric oxide synthase gene polymorphisms and risk of diabetic nephropathy: A systematic review and meta-analysis. BMC Med. Genet. 2014;15(9):2-13.

Nannipieri M, Penno G, Pucci L, Colhoun H, Motti C, Bertacca A, et al. Pronatriodilatin gene polymorphisms, microvascular permeability, and diabetic nephropathy in type 1 diabetes mellitus, J. Am. Soc. Nephrol. 1999;10:1530- 1541.

Schmidt S, Ritz E. Genetic determinants of diabetic renal disease and their impact on therapeutic interventions, Kidney Int. Suppl. 1997;63:27-31.

Nagase S, Suzuki H, Wang Y, Kikuchi S, Hirayama A, Ueda A, et al. Association of ecNOS gene polymorphisms with end stage renal diseases, Mol. Cell. Biochem. 2003;244:113-118.

Freedman BI, Bowden DW. The role of genetic factors in the development of end-stage renal disease, Curr. Opin. Nephrol. Hypertens. 1995;4:230-234.

Nelson RG, Tuttle KR, Bilous RW, et al. National kidney foundation. KDOQI Clinical Practice Guideline for Diabetes and CKD: 2012 Update// Am J Kidney Dis. 2012; 60(5):850-86.

Noiri E, Satoh H, Taguchi J, Brodsky SV, Nakao A, Ogawa Y, et al. Association of eNOS Glu298Asp polymorphism with end-stage renal disease, Hypertension. 2002; 40:535-540.

Yu ZY, Chen LS, Zhang LC, Zhou TB. Meta-analysis of the relationship between ACE I/D gene polymorphism and end-stage renal disease in patients with diabetic nephropathy. Nephrology (Carlton). 2012;17(5):480-487.

Chen Y, Huang H, Zhou J, Doumatey A, Lashley K, Chen G, et al. Polymorphism of the endothelial nitric oxide synthase gene is associated with diabetic retinopathy in a cohort of West Africans, Mol. Vis. 2007;13: 2142-2147.

Ng DP, Tai BC, Koh D, Tan KW, Chia KS. Angiotensin-I converting enzyme insertion/ deletion polymorphism and its association with diabetic nephropathy: A meta-analysis of studies reported between 1994 and 2004 and comprising 14,727 subjects. Diabetologia. 2005;48(5):1008-1016.

Freitas-Silva M, Pereira D, Coelho C, Bicho M, Lopes C, Medeiros R. Angiotensin I-converting enzyme gene insertion/deletion polymorphism and endometrial human cancer in normotensive and hypertensive women, Cancer. Genet. Cytogenet. 2004;155:42-46.

Lukacs K, Hosszufalusi N, Dinya E, et al. The type 2 diabetes-associated variant in TCF7L2 is associated with latent autoimmune diabetes in adult Europeans and the gene effect is modified by obesity: a meta-analysis and an individual study// Diabetologia. 2012;55(3):689-93.

Miyata T. Novel mechanisms and therapeutic options in diabetic nephro-pathy, Pol. Arch. Med. Wewn. 2009;119: 261-264.

Thameem F, Puppala S, Arar NH, Stern MP, Blangero J, Duggirala R, et al. Endothelial nitric oxide synthase (eNOS) gene polymorphisms and their association with type 2 diabetes-related traits in Mexican Americans, Diab. Vasc. Dis. Res. 2008;5:109-113.

Maeda Y, Shiigai T. Diet therapy in diabetic nephropathy, Contrib. Nephrol. 2007;155:50-58.

Marre M, Jeunemaitre X, Gallois Y, et al. Contribution of genetic polymorphism in the renin-angiotensin system to the development of renal complications in insulin-dependent diabetes: (GENEDIAB) Study Group. J. Clin. Invest. 1997;99: 1585-1595.

Li H, Louey JWC, Choy KW, Liu DTL, Chan WM. EDN1 Lys198Asn is associated with diabetic retinopathy in type 2 diabetes. Molecular vision. 2008;14:1698-1704.

Tarnow L, Gluud C, Parving HH. Diabetic nephropathy and the insertion/deletion polymorphism of the angiotensin-converting enzyme gene, Nephrol. Dial. Transplant. 1998;13:1125-1130.

Hodgkinson AD, Millward BA, Demaine AG. Polymorphisms of the glucose transporter (GLUT1) gene are associated with diabetic nephropathy, Kidney Int. 2001;59:985-989.

Shin Shin Y, Baek SH, Chang KY, Park CW, Yang CW, Jin DC, et al. Relations between eNOS Glu298Asp polymorphism and progression of diabetic nephropathy, Diabetes Res. Clin. Pract. 2004;65:257-265.