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Master's Dissertation
DOI
10.11606/D.47.2016.tde-04042016-121315
Document
Author
Full name
Alessandra Donzelli Fabbri
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2016
Supervisor
Committee
Cordas, Taki Athanassios (President)
Giannella, Maria Lucia Cardillo Correa
Ramos, Renato Teodoro
Title in Portuguese
Associação de polimorfismos dos genes do receptor da grelina (GHS-R) e da enzima grelina O-aciltransferase (MBOAT4) e transtornos alimentares
Keywords in Portuguese
Distúrbios do ato de comer
Fator de risco
Genética
Grelina
Abstract in Portuguese
A grelina é um hormônio potente de ação central e periférica, que possui um importante papel na regulação do apetite, consumo alimentar e balanço energético. Fatores genéticos têm sido estudados para explicar as alterações do comportamento alimentar nestes pacientes e os polimorfismos do gene da grelina humana (GHRL) têm sido investigados como importantes fatores de risco para estas doenças, mas os achados ainda são inconclusivos. O presente trabalho objetivou avaliar os polimorfismos do sistema grelina relacionados aos genes GHS-R e MBOAT4 e seu envolvimento na etiologia dos TA no Brasil. Foram coletadas amostras de sangue (10 ml) de 128 indivíduos (76 pacientes e 52 controles) para a análise genética (extração do DNA genômico e posterior genotipagem através do PCR tempo real), e realizadas outras avaliações: psiquiátrica, clínica e nutricional e revisão de prontuário. Não foi encontrada associação entre a frequência dos genótipos do SNP rs495225 no gene GHS-R e dos genótipos do SNP rs10096097 no gene MBOAT4 e os diagnósticos de AN, BN e TCA. Estes genes são fortes genes candidatos para a obesidade e outros distúrbios da alimentação em virtude de suas funções biológicas e localizações, no entanto, outros estudos são necessários para esclarecer se suas variantes podem interferir na regulação do apetite e/ou possam ser um fator de risco para o desenvolvimento dos TA. Não há registro, até o momento; desta investigação ter sido realizada anteriormente na população brasileira
Title in English
Association of polymorphisms of genes of the ghrelin receptor (GHS -R) and enzyme ghrelin O- acyltransferase (MBOAT4) and eating disorders(ED)
Keywords in English
Eating disorders
Genetics
Ghrelin
Risk factor
Abstract in English
Ghrelin is a potent hormone, and has central and peripheral action that has an important role in the regulation of appetite, food intake and energy balance. Genetic factors have been studying to explain the changes in feeding behavior in these patients and polymorphisms of the gene of human ghrelin (GHRL) are investigated as important risk factors for these diseases, but the findings are still inconclusive. This study aimed to evaluate the polymorphisms of ghrelin system related to GHS-R and MBOAT4 genes and their involvement in the etiology of eating disorders in Brazil. Blood samples were collected (10 ml) of 128 subjects (76 patients and 52 controls) for genetic analysis (extraction of genomic and subsequent DNA genotyping by real-time PCR), and evaluations: psychiatric, clinical and nutritional and review record. No association was found between the frequency of SNP rs495225 genotype in the GHS-R gene and SNP rs10096097 genotypes in MBOAT4 gene and AN, BN and TCA diagnostics. These genes are strong candidate genes for obesity and other eating disorders because of its biological functions and locations, however, further studies are needed to clarify whether its variants may interfere with the regulation of appetite and / or may be a risk factor for the development of ED. There is no record, to date; this investigation was done previously in Brazilian population
 
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fabbri_corrigida.pdf (4.62 Mbytes)
Publishing Date
2016-04-19
 
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