Rol de variantes genéticas en el desarrollo de Enfermedad Renal Crónica en pacientes con Diabetes Mellitus Tipo 2

Autores

DOI:

https://doi.org/10.22529/me.2018.3(4)02

Palavras-chave:

genes, polimorfismos, enfermedad renalcrónica, nefropatía diabética, diabetes mellitus tipo 2

Resumo

La Enfermedad Renal Crónica (ERC) es una afección que perjudica a un gran número de pacientes. Una de las causas es la Nefropatía en pacientes con Diabetes Mellitus Tipo 2 (DM2). Objetivo: Indagar si las presencias de variantes genéticas contribuyen al desarrollo de ERC en pacientes con DM2. Materiales y métodos: se evaluaron criterios clínicos, bioquímicos y moleculares en 25 pacientes con DM2. Los polimorfismos se analizaron mediante PCR-RFLP para ECA (rs4646994); CDKAL1 (rs7756992); e-NOS (rs1799983) y SLC12A3 (rs11643718). Resultados: El análisis estadístico mediante modelo dominante arrojaron para: ECA (rs4646994) (OR=1,33 (IC 95%) 0,25-7,01; p=0,73); CDKAL1 (rs7756992) (OR= 1 (IC 95%) 0,14-7,39; p=NA); e-NOS (rs1799983) (OR= 0,29 (IC 95%) 0,05-1,57; p=0,14) y SLC12A3 (rs11643718 (OR= 1,62 (IC 95%) 0,19-13,93; p=0,66). Conclusiones: ninguna de las variantes evaluadas en los genes ECA, CDKAL1, e-NOS y SLC12A3 mostraron asociaciones positivas o negativas con el riesgo a desarrollar ERC en pacientes con DM2.

Downloads

Os dados de download ainda não estão disponíveis.

Biografia do Autor

  • Pablo Yang
    Cátedra de Biotecnología, Facultad de Ciencias Químicas, Universidad Católica de Córdoba. Unidad Asociada al CONICET: Área de Cs. Agrarias, Ingeniería, Cs. Biológicas
  • Verónica Ojeda
    Departamento de Diabetología, Hospital Nacional de Clínicas, Universidad Nacional de Córdoba.
  • Adriana Ruiz-Pecchio
    Laboratorio de Nefrología, Laboratorio Central, Hospital Nacional de Clínicas, Universidad Nacional de Córdoba
  • Néstor W. Soria
    Cátedra de Biotecnología, Facultad de Ciencias Químicas, Universidad Católica de Córdoba. Unidad Asociada al CONICET: Área de Cs. Agrarias, Ingeniería, Cs. Biológicas

Referências

Martínez-Castelao A, Górriz JL, Bover J, Segura-de la Morena J, et al. Documento de consenso para la detección y manejo de la enfermedad renal crónica. Semer - Med Fam [Internet]. 2014 Nov;40(8):441-59. Available from: https://doi.org/10.1016/j.semerg.2014.09.001

Monhart V. Hypertension and chronic kidney diseases. Cor Vasa [Internet]. 2013 Aug;55(4): e397-402. Available from: https://doi.org/10.1016/j.crvasa.2013.07.006

Cho NH, Shaw JE, Karuranga S, Huang Y, et al. IDF Diabetes Atlas: Global estimates of diabetes prevalence for 2017 and projections for 2045. Diabetes Res Clin Pract [Internet]. 2018 Apr; 138:271-81. Available from: https://doi.org/10.1016/j.diabres.2018.02.023

Maric C, Hall JE. Obesity, Metabolic Syndrome and Diabetic Nephropathy. In: Contrib Nephrol [Internet]. 2011. p. 28-35. Available from: https://doi.org/10.1159/000324941

Rizvi S. Association of genetic variants with diabetic nephropathy. World J Diabetes [Internet]. 2014 Dec 15 [cited 2015 Aug 9];5(6):809-16. Available from: https://doi.org/10.4239/wjd.v5.i6.809

Tamm R, Oselin K, Kallassalu K, Magi R, et al. Thiopurine S-methyltransferase (TPMT) pharmacogenetics: three new mutations and haplotype analysis in the Estonian population. Clin Chem Lab Med [Internet]. 2008 Jan 1 [cited 2014 Jun 4];46(7):974-9. Available from: https://doi.org/10.1515/CCLM.2008.187

Fathi M, Nikzamir AR, Esteghamati A, Nakhjavani M, et al. Combination of Angiotensin Converting Enzyme Insertion/Deletion (I/D) (rs4646994) and VEGF Polymorphism (+405G/C; rs2010963) Synergistically Associated With the Development, of Albuminuria in Iranian Patients With Type 2 Diabetes. Iran Red Crescent Med J [Internet]. 2015 Feb 21 [cited 2015 Oct 22];17(2): e19469. Available from: https://doi.org/10.5812/ircmj.19469

Li Y, Wang L, Lu X, Yang Z, et al. CDKAL1 gene rs7756992 A/G polymorphism and type 2 diabetes mellitus: a meta-analysis of 62,567 subjects. Sci Rep [Internet]. 2013 Dec 4 [cited 2014 Jul 31];3(1):3131. Available from: https://doi.org/10.1038/srep03131

Dellamea B, Leitão C, Friedman R, Canani L. Nitric oxide system and diabetic nephropathy. Diabetol Metab Syndr. 2014;6(1):17. https://doi.org/10.1186/1758-5996-6-17

Zhang R, Zhuang L, Li M, Zhang J, et al. Arg913Gln of SLC12A3 gene promotes development and progression of end-stage renal disease in Chinese type 2 diabetes mellitus. Mol Cell Biochem. 2018;437(1-2):203-10. Available from: https://doi.org/10.1007/s11010-017-3120-z

Ronco P, Wong G, Agarwal A, Anders H, et al. KDIGO 2018 Clinical Practice Guideline for the Prevention, Diagnosis, Evaluation, and Treatment of Hepatitis C in Chronic Kidney Disease. Kidney Int Suppl [Internet]. 2018 Oct;8(3):91-165. Available from: https://doi.org/10.1016/j.kisu.2018.06.001

Correa-Rotter R, García-García G, Iñiguez JC, Ramirez-Sandoval JC. Ethnicity and Chronic Kidney Disease in Disadvantaged Populations - An International Perspective. In: Chronic Renal Disease. Elsevier; 2015. p. 833-42. https://doi.org/10.1016/B978-0-12-411602-3.00069-X

Kumaresan R, Giri P, Shanmuganathan R. Prevalence of angiotensin converting enzyme (ACE) gene insertion/deletion polymorphism in South Indian population with hypertension and chronic kidney disease. J Postgrad Med. 2015;61(4):230-4. https://doi.org/10.4103/0022-3859.166510

Muniandy S, Chan S, Jayapalan J. Null association between ACE gene I/D polymorphism and diabetic nephropathy among multiethnic Malaysian subjects. Indian J Hum Genet. 2010;16(2):78-86. https://doi.org/10.4103/0971-6866.69351

Jiang G, Hu C, Tam CHT, Lau ESH, et al. Genetic and clinical variables identify predictors for chronic kidney disease in type 2 diabetes. Kidney Int. 2016;89(2):411-20. https://doi.org/10.1016/j.kint.2015.09.001

¿Mrozikiewicz-Rakowska B, Maroszek P, Nehring P, Sobczyk-Kopciol A, et al. Genetic and environmental predictors of chronic kidney disease in patients with type 2 diabetes and diabetic foot ulcer: a pilot study. J Physiol Pharmacol. 2015,66(5):751-61.

Chand S, Chue CD, Edwards NC, Hodson J, et al. Endothelial Nitric Oxide Synthase Single Nucleotide Polymorphism and Left Ventricular Function in Early Chronic Kidney Disease. Joles JA, editor. PLoS One. 2015;10(1): e0116160. https://doi.org/10.1371/journal.pone.0116160

Kim JH, Shin HD, Park BL, Moon MK, et al. SLC12A3 (solute carrier family 12 member [sodium/chloride] 3) polymorphisms are associated with end-stage renal disease in diabetic nephropathy. Diabetes. 2006,55(3):843-8. https://doi.org/10.2337/diabetes.55.03.06.db05-1013

Ng DPK, Nurbaya S, Choo S, Koh D, et al. Genetic variation at the SLC12A3 locus is unlikely to explain risk for advanced diabetic nephropathy in Caucasians with type 2 diabetes. Nephrol Dial Transplant. 2008;23(7):2260-4. https://doi.org/10.1093/ndt/gfm946

Ng DPK, Nurbaya S, Choo S, Koh D, et al. Genetic variation at the SLC12A3 locus is unlikely to explain risk for advanced diabetic nephropathy in Caucasians with type 2 diabetes. Nephrol Dial Transplant [Internet]. 2008 May 25 [cited 2015 Nov 4];23(7):2260- 4. Available from: https://doi.org/10.1093/ndt/gfm946

Publicado

2018-12-26

Edição

Seção

Artículos

Como Citar

Yang, P., Ojeda, V., Ruiz-Pecchio, A., & Soria, N. W. (2018). Rol de variantes genéticas en el desarrollo de Enfermedad Renal Crónica en pacientes con Diabetes Mellitus Tipo 2. Methodo Investigación Aplicada a Las Ciencias Biológicas, 3(4), 103-111. https://doi.org/10.22529/me.2018.3(4)02