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Doctoral Thesis
DOI
https://doi.org/10.11606/T.5.2009.tde-08092009-100838
Document
Author
Full name
Guilherme Figueiredo Marquezine
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2009
Supervisor
Committee
Krieger, Jose Eduardo (President)
Izar, Maria Cristina de Oliveira
Moises, Regina Celia Mello Santiago
Nery, Márcia
Santos Filho, Raul Dias dos
Title in Portuguese
Papel do polimorfismo rs7903146 do gene TCF7L2 na população brasileira e sua aplicação na predição de risco de diabetes tipo 2
Keywords in Portuguese
Diabetes mellitus tipo 2/genética
Fatores de transcrição TCF
Grupos de populações continentais
Polimorfismo genético
Predisposição genética para a doença
Abstract in Portuguese
Os polimorfismos do gene TCF7L2 têm sido fortemente associados com risco de desenvolvimento de diabetes mellitus em populações de diversas origens étnicas. No presente estudo, investigou-se se esta associação se confirma em diferentes populações brasileiras e qual seu efeito sobre o desempenho de um modelo de predição de risco de diabetes mellitus quando a informação genética foi acrescentada às variáveis clínicas e laboratoriais iniciais. Concluiu-se que, apesar de haver sido confirmado a associação do polimorfismo rs7903146 ao diabetes tipo 2 na população brasileira, a inclusão desta informação no modelo teve desempenho equivalente ao modelo baseado unicamente em variáveis clínicas.
Title in English
TCF7L2 gene rs7903146 polymorphism role in the brazilian population e its application in type 2 diabetes risk prediction
Keywords in English
Continental population groups
Diabetes mellitus type 2/genetics
Genetic predisposition to disease
Polymorphism genetic
TCF transcription factors
Abstract in English
Recently, polymorphisms of gene TCF7L2 have been strongly associated with Type 2 Diabetes risk in populations of diverse genetic backgrounds. In this study we investigated if this association is present in different Brazilian populations and how the inclusion of genetic information to a diabetes risk prediction model based on clinical and laboratorial variables would affect its would affect its performance. We concluded that, even though the TCF7L2 rs7903146 polimorphism is associated to Type 2 Diabetes risk in the Brazilian population, that inclusion of such information to a diabetes risk prediction model based on clinical variables lead to equivalent performance.
 
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Publishing Date
2009-09-11
 
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