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Master's Dissertation
DOI
10.11606/D.5.2007.tde-23102007-110042
Document
Author
Full name
Karen Miguita
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2007
Supervisor
Committee
Vallada Filho, Homero Pinto (President)
Krieger, Jose Eduardo
Messas, Guilherme Peres
Title in Portuguese
Estudo de associação de genes candidatos no transtorno obsessivo-compulsivo: investigação dos loci SLC6A4, HTR1B, HTR2A, SLC6A3, COMT e SLC6A2
Keywords in Portuguese
Clomipramina.
Estudos de casos e controles
Farmacogenética
Polimorfismo genético
Transtorno obsessivo-compulsivo
Abstract in Portuguese
O Transtorno obsessivo-compulsivo (TOC) é um transtorno psiquiátrico comum e heterogêneo caracterizado por obsessões (pensamentos, imagens ou impulsos intrusivos e recorrentes) e compulsões (comportamentos ou atos mentais repetitivos realizados para aliviar as obsessões). O TOC tem uma prevalência de 2 a 3% na população geral e apresenta distribuição aproximadamente igual entre os sexos, porém os homens tendem a apresentar os sintomas obsessivo-compulsivos mais precocemente quando comparado com as mulheres. Os estudos de genética epidemiológica têm demonstrado que o fator genético é um importante componente na etiologia do TOC. O principal objetivo desta dissertação foi investigar a influência de alguns genes candidatos na susceptibilidade para o TOC (estudo de genes candidatos) e também qual a influência destes mesmos genes na resposta terapêutica à clomipramina (estudo de farmacogenética). Realizamos o estudo de genes candidatos num total de 215 pacientes e 872 controles. Os loci investigados foram: SLC6A4, HTR1B, HTR2A, SLC6A3, COMT e SLC6A2. Os mesmos polimorfismos foram investigados em uma sub-amostra de 41 pacientes tratados com clomipramina e analisados de acordo com a resposta terapêutica. Foram classificados como respondedores ao tratamento, os pacientes que tiveram uma redução de 40% ou mais na escala YBOCS. Assim, 27 pacientes foram considerados respondedores e 14 nãorespondedores. Diferenças genotípicas e alélicas foram observadas em alguns resultados nos pacientes e controles. Entretanto, nenhuma associação foi observada nas análises para resposta à clomipramina. Os resultados sugerem que alguns polimorfismos estudados podem estar relacionados ao aumento do risco para o TOC, porém, nenhum polimorfismo foi associado à resposta terapêutica à clomipramina.
Title in English
Candidate genes association study in obsessive-compulsive disorder: investigation of loci SLC6A4, HTR1B, HTR2A, SLC6A3, COMT e SLC6A2
Keywords in English
Case-control studies
Clomipramine
Obsessive-compulsive disorder
Pharmacogenetis
Polymorphism genetic
Abstract in English
Obsessive-compulsive disorder (OCD) is a common and heterogeneous psychiatric disorder characterized by obsessions (intrusive and recurrent thoughts, images or impulses) and compulsions (repetitive behaviors or mental acts performed to relive obsessions). OCD prevalence range from 2 to 3% in general population and has approximately equal sex distributions, however men tend to have an earlier age at onset of obsessive-compulsive symptoms comparing to women. Epidemiologic studies have demonstrated that genetic factor is an important component in the etiology of OCD. The aim of this study was to investigate participation of some candidate genes in the susceptibility to OCD and also their effects on clomipramine treatment. We performed a candidate gene study in a total of 215 OCD patients and 865 controls. The loci investigated were: SLC6A4, HTR1B, HTR2A, SLC6A3, COMT and SLC6A2. The same polymorphisms were investigated in a sub-sample of 41 patients treated with clomipramine, and analyzed according to therapeutic response. There were considered good responders to the drug those patients who presented a reduction of 40% or more in Y-BOCS scale. According to this, 27 patients were good responders and 14 poor responders. Genotypic and allelic differences were observed in some results for patients and controls. However, no association was observed in the analyses for clomipramine response. Our results suggest that some polymorphisms investigated may be related to the increase of risk to develop OCD, but they are not associated to therapeutic response to clomipramine.
 
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karenmiguita.pdf (1.39 Mbytes)
Publishing Date
2007-11-06
 
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