Avaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabética
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Tipo de documento: | Dissertação |
Idioma: | por |
Título da fonte: | Repositório Institucional da UFG |
Texto Completo: | http://repositorio.bc.ufg.br/tede/handle/tede/9744 |
Resumo: | Diabetic nephropathy (DN) is one of the main causes of renal failure in diabetic patients. Studies indicate that the development and progression of nephropathy are strongly determined by genetic factors, and some have been shown to contribute to DN. The genetic insertion / deletion polymorphism of the angiotensin converting enzyme (ACE) gene is associated with an increase in the enzymatic activity of ACE, and several studies have already demonstrated the association of this polymorphism with ND. Another genetic polymorphism, G8790A of the gene converting enzyme angiotensin 2 (ACE 2), results in the alteration of the expression of this gene, however, it remains unknown until now the pathophysiological role of this G8790A polymorphism in type 1 and 2 diabetic nephropathy. The objective of this study was to establish a possible relationship between the genetic polymorphisms described and the development of diabetic nephropathy. A total of 101 patients with DN and 95 patients with diabetes mellitus (DM) were included in this hospital-based case-control study and the determination of the genotypes for the ACE gene polymorphism was done by real-time PCR (qPCR) and for the ACE 2 gene by PCR / RFLP, respectively. The ACE I / D genotype conferred an increased risk of developing DN (OR = 2.5 and p = 0.01), demonstrating that the D allele is responsible for the increase in circulating levels of angiotensin II (Ang II), leading to an increase of blood pressure, affecting the glomeruli and consequently causing glomerular damage. Regarding ACE 2, no association with the risk of DN was demonstrated. In patients with nephropathy, it was observed that the risk genotype (D / D) is associated with a tendency to increase glycated hemoglobin levels and decrease in systolic blood pressure levels. We conclude that the ACE gene polymorphism was relevant for the development of the clinical course of DN. |
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Oliveira, André Henrique Freiria dehttp://lattes.cnpq.br/0152151142555605Reis, Ângela Adamski da Silvahttp://lattes.cnpq.br/3243656364470085Oliveira, André Henrique Freiria deReis, . Ângela Adamski da SilvaPedrino, Gustavo RodriguesSantos, Rodrigo da Silvahttp://lattes.cnpq.br/3923371316440518Silva, Elisângela Gomes da2019-06-27T12:54:07Z2018-04-13SILVA, Elisângela Gomes da. Avaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabética. 2018. 100 f. Dissertação (Mestrado em Ciências Biológicas) - Universidade Federal de Goiás, Goiânia, 2018.http://repositorio.bc.ufg.br/tede/handle/tede/9744Diabetic nephropathy (DN) is one of the main causes of renal failure in diabetic patients. Studies indicate that the development and progression of nephropathy are strongly determined by genetic factors, and some have been shown to contribute to DN. The genetic insertion / deletion polymorphism of the angiotensin converting enzyme (ACE) gene is associated with an increase in the enzymatic activity of ACE, and several studies have already demonstrated the association of this polymorphism with ND. Another genetic polymorphism, G8790A of the gene converting enzyme angiotensin 2 (ACE 2), results in the alteration of the expression of this gene, however, it remains unknown until now the pathophysiological role of this G8790A polymorphism in type 1 and 2 diabetic nephropathy. The objective of this study was to establish a possible relationship between the genetic polymorphisms described and the development of diabetic nephropathy. A total of 101 patients with DN and 95 patients with diabetes mellitus (DM) were included in this hospital-based case-control study and the determination of the genotypes for the ACE gene polymorphism was done by real-time PCR (qPCR) and for the ACE 2 gene by PCR / RFLP, respectively. The ACE I / D genotype conferred an increased risk of developing DN (OR = 2.5 and p = 0.01), demonstrating that the D allele is responsible for the increase in circulating levels of angiotensin II (Ang II), leading to an increase of blood pressure, affecting the glomeruli and consequently causing glomerular damage. Regarding ACE 2, no association with the risk of DN was demonstrated. In patients with nephropathy, it was observed that the risk genotype (D / D) is associated with a tendency to increase glycated hemoglobin levels and decrease in systolic blood pressure levels. We conclude that the ACE gene polymorphism was relevant for the development of the clinical course of DN.A nefropatia diabética (ND) é uma das principais causas de insuficiência renal em pacientes diabéticos. Estudos apontam que o desenvolvimento e a progressão da nefropatia são fortemente determinados por fatores genéticos, e alguns têm demonstrado contribuir com a ND. O polimorfismo genético de inserção/deleção do gene da enzima conversora de angiotensina (ECA) está associado ao aumento da atividade enzimática de ECA e diversos estudos já evidenciaram associação deste polimorfismo com ND. Outro polimorfismo genético, G8790A do gene enzima conversora de angiotensina 2 (ECA 2), resulta na alteração da expressão desse gene, no entanto, permanece até então, desconhecido o papel fisiopatológico desse polimorfismo G8790A na nefropatia de diabéticos do tipo 1 e 2. O objetivo deste trabalho foi estabelecer uma possível relação entre os polimorfismos genéticos descritos e o desenvolvimento da nefropatia diabética. Um total de 101 pacientes com ND e 95 pacientes com diabetes mellitus (DM) foram incluídos neste estudo do tipo caso-controle de base hospitalar e a determinação dos genótipos para o polimorfismo do gene ECA foi feita por PCR em tempo real (qPCR) e para o gene ECA 2 por PCR/RFLP, respectivamente. O genótipo I/D de ECA conferiu risco aumentado no desenvolvimento de ND (OR= 2,5 e p=0.01), demonstrando que o alelo D é responsável pelo aumento dos níveis circulantes de angiotensina II (Ang II), o que leva ao aumento da pressão arterial, afetando os glomérulos e consequentemente provocando danos glomerulares. Com relação ao ECA 2, não foi demonstrada associação com o risco de ND. Nos pacientes com nefropatia foi observado que o genótipo de risco (D/D) está associado a uma tendência ao aumento nos níveis de hemoglobina glicada e na diminuição dos níveis da Pressão Arterial Sistólica. Conclui-se o polimorfismo do gene ECA foi relevante para o desenvolvimento do curso clínico de DN.Submitted by Marlene Santos (marlene.bc.ufg@gmail.com) on 2019-06-25T18:32:46Z No. of bitstreams: 2 Dissertação - Elisângela Gomes da Silva - 2018.pdf: 3654855 bytes, checksum: a1797928bb0135beb8b3357e8ac65541 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2019-06-27T12:54:07Z (GMT) No. of bitstreams: 2 Dissertação - Elisângela Gomes da Silva - 2018.pdf: 3654855 bytes, checksum: a1797928bb0135beb8b3357e8ac65541 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)Made available in DSpace on 2019-06-27T12:54:07Z (GMT). No. of bitstreams: 2 Dissertação - Elisângela Gomes da Silva - 2018.pdf: 3654855 bytes, checksum: a1797928bb0135beb8b3357e8ac65541 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Previous issue date: 2018-04-13Conselho Nacional de Pesquisa e Desenvolvimento Científico e Tecnológico - CNPqapplication/pdfporUniversidade Federal de GoiásPrograma de Pós-graduação em Ciências Biológicas (ICB)UFGBrasilInstituto de Ciências Biológicas - ICB (RG)http://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessDiabetesVariantes genéticasPredisposição genéticaPolimorfismo inserção/deleçãoDiabetic nephropathyGenetic variantsGenetic predispositionInsertion / deletion polymorphismCIENCIAS BIOLOGICAS::FISIOLOGIAAvaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabéticaAce1 and ace 2 clinical and molecular evaluation of polymorphosms of the genes on susceptibility to diabetic nephropathyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesis-3362730732320261554600600600600-38727721178273734047737708247419018223-2555911436985713659reponame:Repositório Institucional da UFGinstname:Universidade Federal de Goiás (UFG)instacron:UFGCC-LICENSElicense_urllicense_urltext/plain; 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dc.title.eng.fl_str_mv |
Avaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabética |
dc.title.alternative.eng.fl_str_mv |
Ace1 and ace 2 clinical and molecular evaluation of polymorphosms of the genes on susceptibility to diabetic nephropathy |
title |
Avaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabética |
spellingShingle |
Avaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabética Silva, Elisângela Gomes da Diabetes Variantes genéticas Predisposição genética Polimorfismo inserção/deleção Diabetic nephropathy Genetic variants Genetic predisposition Insertion / deletion polymorphism CIENCIAS BIOLOGICAS::FISIOLOGIA |
title_short |
Avaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabética |
title_full |
Avaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabética |
title_fullStr |
Avaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabética |
title_full_unstemmed |
Avaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabética |
title_sort |
Avaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabética |
author |
Silva, Elisângela Gomes da |
author_facet |
Silva, Elisângela Gomes da |
author_role |
author |
dc.contributor.advisor1.fl_str_mv |
Oliveira, André Henrique Freiria de |
dc.contributor.advisor1Lattes.fl_str_mv |
http://lattes.cnpq.br/0152151142555605 |
dc.contributor.advisor-co1.fl_str_mv |
Reis, Ângela Adamski da Silva |
dc.contributor.advisor-co1Lattes.fl_str_mv |
http://lattes.cnpq.br/3243656364470085 |
dc.contributor.referee1.fl_str_mv |
Oliveira, André Henrique Freiria de |
dc.contributor.referee2.fl_str_mv |
Reis, . Ângela Adamski da Silva |
dc.contributor.referee3.fl_str_mv |
Pedrino, Gustavo Rodrigues |
dc.contributor.referee4.fl_str_mv |
Santos, Rodrigo da Silva |
dc.contributor.authorLattes.fl_str_mv |
http://lattes.cnpq.br/3923371316440518 |
dc.contributor.author.fl_str_mv |
Silva, Elisângela Gomes da |
contributor_str_mv |
Oliveira, André Henrique Freiria de Reis, Ângela Adamski da Silva Oliveira, André Henrique Freiria de Reis, . Ângela Adamski da Silva Pedrino, Gustavo Rodrigues Santos, Rodrigo da Silva |
dc.subject.por.fl_str_mv |
Diabetes Variantes genéticas Predisposição genética Polimorfismo inserção/deleção |
topic |
Diabetes Variantes genéticas Predisposição genética Polimorfismo inserção/deleção Diabetic nephropathy Genetic variants Genetic predisposition Insertion / deletion polymorphism CIENCIAS BIOLOGICAS::FISIOLOGIA |
dc.subject.eng.fl_str_mv |
Diabetic nephropathy Genetic variants Genetic predisposition Insertion / deletion polymorphism |
dc.subject.cnpq.fl_str_mv |
CIENCIAS BIOLOGICAS::FISIOLOGIA |
description |
Diabetic nephropathy (DN) is one of the main causes of renal failure in diabetic patients. Studies indicate that the development and progression of nephropathy are strongly determined by genetic factors, and some have been shown to contribute to DN. The genetic insertion / deletion polymorphism of the angiotensin converting enzyme (ACE) gene is associated with an increase in the enzymatic activity of ACE, and several studies have already demonstrated the association of this polymorphism with ND. Another genetic polymorphism, G8790A of the gene converting enzyme angiotensin 2 (ACE 2), results in the alteration of the expression of this gene, however, it remains unknown until now the pathophysiological role of this G8790A polymorphism in type 1 and 2 diabetic nephropathy. The objective of this study was to establish a possible relationship between the genetic polymorphisms described and the development of diabetic nephropathy. A total of 101 patients with DN and 95 patients with diabetes mellitus (DM) were included in this hospital-based case-control study and the determination of the genotypes for the ACE gene polymorphism was done by real-time PCR (qPCR) and for the ACE 2 gene by PCR / RFLP, respectively. The ACE I / D genotype conferred an increased risk of developing DN (OR = 2.5 and p = 0.01), demonstrating that the D allele is responsible for the increase in circulating levels of angiotensin II (Ang II), leading to an increase of blood pressure, affecting the glomeruli and consequently causing glomerular damage. Regarding ACE 2, no association with the risk of DN was demonstrated. In patients with nephropathy, it was observed that the risk genotype (D / D) is associated with a tendency to increase glycated hemoglobin levels and decrease in systolic blood pressure levels. We conclude that the ACE gene polymorphism was relevant for the development of the clinical course of DN. |
publishDate |
2018 |
dc.date.issued.fl_str_mv |
2018-04-13 |
dc.date.accessioned.fl_str_mv |
2019-06-27T12:54:07Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/masterThesis |
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publishedVersion |
dc.identifier.citation.fl_str_mv |
SILVA, Elisângela Gomes da. Avaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabética. 2018. 100 f. Dissertação (Mestrado em Ciências Biológicas) - Universidade Federal de Goiás, Goiânia, 2018. |
dc.identifier.uri.fl_str_mv |
http://repositorio.bc.ufg.br/tede/handle/tede/9744 |
identifier_str_mv |
SILVA, Elisângela Gomes da. Avaliação clínica e molecular dos polimorfismos dos genes ECA 1 e ECA 2 na susceptibilidade à nefropatia diabética. 2018. 100 f. Dissertação (Mestrado em Ciências Biológicas) - Universidade Federal de Goiás, Goiânia, 2018. |
url |
http://repositorio.bc.ufg.br/tede/handle/tede/9744 |
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por |
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por |
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7737708247419018223 |
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UFG |
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Universidade Federal de Goiás |
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