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Master's Dissertation
DOI
https://doi.org/10.11606/D.5.2019.tde-18112019-092845
Document
Author
Full name
Maurício Pinto Rodrigues
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2019
Supervisor
Committee
Mattar Junior, Rames (President)
Nakachima, Luis Renato
Vicente, José Ricardo Negreiros
Wei, Teng Hsiang
Title in Portuguese
Influência de polimorfismos genéticos em metaloproteinases na Moléstia de Dupuytren
Keywords in Portuguese
Contratura de Dupuytren
Metaloproteases
Polimorfismo genético
Abstract in Portuguese
INTRODUÇÃO: Na Moléstia de Dupuytren, o aumento da expressão tecidual das metaloproteinases da matriz foi demostrado. Polimorfismos genéticos nas regiões promotoras dos genes codificadores destas enzimas podem influenciar neste aumento. O objetivo deste estudo foi avaliar a influência dos polimorfismos (-1607) da MMP-1, (-1306) da MMP-2 e (-77) da MMP-13 na Moléstia de Dupuytren. MÉTODOS: Avaliamos um grupo de 50 pacientes com diagnóstico clínico de Moléstia de Dupuytren e pareamos, segundo idade e sexo, com um segundo grupo de 100 pacientes sem o diagnóstico clínico. O DNA foi obtido através de amostras de saliva de todos os pacientes e os genótipos através das técnicas de PCR e RFLP. A análise estatística foi realizada através do teste qui-quadrado com nível de significância de 5%. RESULTADOS: Em relação ao polimorfismo da MMP-1, encontramos, no grupo controle o alelo 1G e o genótipo 1G/1G em 69,5% e 47% respectivamente, enquanto no grupo teste, 54% e 26% (p=0,011 e 0,024). Na MMP-13, o alelo A em 63,5% no grupo controle e 76% no grupo teste (p=0,040). No grupo teste, o genótipo A/A foi observado em 58% dos casos, enquanto no grupo controle, o genótipo A/G foi o mais observado (61%), com p = 0,011. Não houve diferença estatística em relação ao polimorfismo estudado da MMP-2. CONCLUSÃO: o polimorfismo das regiões promotoras dos genes das metaloproteinases MMP-1 (-1607) e MMP-13 (-77) estão relacionados à Moléstia de Dupuytren
Title in English
Influence of genetic polymorphisms on metalloproteinases in Dupuytren's disease
Keywords in English
Dupuytren contracture
Metalloproteases
Polymorphism genetic
Abstract in English
INTRODUCTION: In Dupuytren's disease, increased tissue expression of matrix metalloproteinases (MMPs) has been demonstrated. Genetic polymorphisms within genes promoter regions of these enzymes may influence this increase. The purpose of this study was to evaluate the influence of the polymorphisms MMP-1 (-1607), MMP-2 (-1306) and MMP-13 (-77) in Dupuytren's disease. METHODS: A group of 50 patients were evaluated with a clinical diagnosis of Dupuytren's disease and matched, according with age and gender, with a second group of 100 patients without the clinical diagnosis. DNA was obtained through saliva samples from all patients and genotypes through Polimerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) techniques. Statistical analysis was carried out through the chi-square test with significance level of 5%. RESULTS: In the control group, allele 1G and genotype 1G/1G were found 69.5% and 47% respectively, while in the test group 54% and 26% (p=0.011 and 0.024). In MMP-13, allele A was 63.5% in the control group and 75% in the test group (p=0.040). In the test group, genotype A/A was observed in 58% of the cases, while in the control group, genotype A/G was the most observed (61%), with p = 0.011. There was no statistical difference from the studied on polymorphism MMP-2. CONCLUSION: The polymorphism of the genes promoter regions of MMP-1 metalloproteinases (-1607) and MMP-13 metalloproteinases (-77) are related to Dupuytren's disease
 
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Publishing Date
2019-11-18
 
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