• JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
  • JoomlaWorks Simple Image Rotator
 
  Bookmark and Share
 
 
Master's Dissertation
DOI
10.11606/D.41.2010.tde-12052010-112741
Document
Author
Full name
Giselle Izzo
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2010
Supervisor
Committee
Ojopi, Elida Paula Benquique (President)
Bottino, Cassio Machado de Campos
Mingroni Netto, Regina Celia
Title in Portuguese
Avaliação de polimorfismos de DNA em genes candidatos de pacientes com comprometimento cognitivo leve e doença de Alzheimer
Keywords in Portuguese
Doença de Alzheimer
Genética
Polimorfismos de DNA
Abstract in Portuguese
A doença de Alzheimer (DA) é complexa e de etiologia desconhecida. Provavelmente componentes multifatoriais influenciam no desencadeamento dessa patologia, sendo que o único fator genético de risco bem estabelecido até o momento para a doença é a variante alélica APOE*E4. Nos últimos anos, descobriu-se uma série de polimorfismos em genes diferentes sugerindo que essas alterações possam ter participação discreta na patologia. O presente estudo avaliou vinte e um polimorfismos distribuídos em treze genes, sendo estes APOE, ACE, APP, BDNF, CALHM1, CST3, GAB2, GAPDH, GSK3B, GSTP1, IL1A, IL1B e SORL1 , em pacientes, controles idosos e indivíduos com comprometimento cognitivo leve, na tentativa de verificar se existe algum tipo de associação entre os polimorfismos investigados como fatores de risco para DA. Nossos resultados mostraram associações positivas entre cinco polimorfismos conferindo risco elevado para o desenvolvimento de DA (rs429358 e rs7412 de APOE, rs2373115 de GAB2, rs6438552 de GSK3B e rs641120 de SORL1). Outro achado consistente de nosso estudo foi que 20/21 polimorfismos estudados apresentaram ao menos um genótipo associado com risco elevado para DA na presença de um alelo APOE*E4. Com nosso trabalho contribuímos para aumentar o conhecimento sobre a etiologia da DA, identificando possíveis marcadores moleculares de suscetibilidadenessa patologia.
Title in English
Evaluation of DNA polymorphisms in candidate genes of mild cognitive impairment and Alzheimer's disease Patients
Keywords in English
Alzheimer's disease
DNA Polymorphisms
Genetics
Abstract in English
Alzheimers disease (AD) is complex, and its ethiology is not completely understood yet. It is likely that multifactorial components do account for this pathology development, being the allelic variant APOE*E4 is the only well-established genetic risk factor so far. Recently, a series of polymorphisms located at different genes were related to AD, suggesting that those variations might have a modest participation in this pathology. The present study evaluated twenty-one polymorphisms distributed in thirteen genes, being them APOE, ACE, APP, BDNF, CALHM1, CST3, GAB2, GAPDH, GSK3B, GSTP1, IL1A, IL1B and SORL1, in elderly controls, AD and mild cognitive impairment patients, attempting to verify if there is any kind of association between the selected polymorphisms as risk factors for AD. Our results show positive associations between five polymorphisms and AD (APOE rs429358 and rs7412, GAB2 rs2373115, GSK3B rs6438552 and SORL1 rs641120). Another consistent finding was that 20/21 polymorphisms analyzed showed at least one genotype associated with increased risk for AD at the presence of at least one APOE*E4 allele. We intend that our research might contribute to increase what is known about AD ethiology, by deciphering possible molecular susceptibility markers evolved with this pathology.
 
WARNING - Viewing this document is conditioned on your acceptance of the following terms of use:
This document is only for private use for research and teaching activities. Reproduction for commercial use is forbidden. This rights cover the whole data about this document as well as its contents. Any uses or copies of this document in whole or in part must include the author's name.
Publishing Date
2010-08-19
 
WARNING: Learn what derived works are clicking here.
All rights of the thesis/dissertation are from the authors
Centro de Informática de São Carlos
Digital Library of Theses and Dissertations of USP. Copyright © 2001-2021. All rights reserved.