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Master's Dissertation
DOI
10.11606/D.5.2008.tde-14102008-100347
Document
Author
Full name
David Wilson
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2008
Supervisor
Committee
Vallada Filho, Homero Pinto (President)
Bottino, Cassio Machado de Campos
Laranjeira, Ronaldo Ramos
Title in Portuguese
Associação de haplótipos de genes do sistema serotonérgico e impulsividade
Keywords in Portuguese
Genética
Jogos de azar
Serotonina
Transtornos do controle de impulsos
Abstract in Portuguese
Dadas a elevada prevalência e os grandes prejuízos sociais, familiares e pessoais que caracterizam o envolvimento patológico com jogos de azar, torna-se necessária a investigação sistemática de fatores de vulnerabilidade e de resistência que possam influir no desenvolvimento de tais condições. Uma das principais estratégias utilizadas para a profilaxia e tratamento dessas formas de envolvimento patológico tem sido a investigação dos componentes biológico-genéticos do Jogo Patológico (JP). O presente estudo objetivou investigar a associação de polimorfismos de genes candidatos do sistema serotonérgico e JP em pares de irmãos discordantes para este diagnóstico. Participaram do estudo 140 pares de irmãos discordantes para o diagnóstico de JP pelos critérios do Manual Diagnóstico e Estatístico da Associação Psiquiátrica Americana, DSM-IV. Foram genotipados os seguintes polimorfismos de genes que codificam: o transportador da serotonina (polimorfismo 5HTTLPR-l/s), o receptor serotoninérgico subtipo 1B (5HT1B G861C), e o receptor serotoninérgico subtipo 2A (polimorfismos 5HT2A T102C e C516T). Na análise estatística observou-se uma maior distribuição do alelo C do polimorfismo T102C do gene 5HT2A no grupo de irmãos com o diagnóstico de JP (p<0,01), sugerindo uma possível contribuição desse alelo na predisposição ao JP. Entretanto, faz-se necessária a investigação desses polimorfismos em amostras independentes envolvendo o fenótipo JP para a confirmação dos achados apresentados nesse trabalho. Uma análise preliminar dos haplótipos (102 e 516) apresentou resultados inconclusivos. É interessante notar que há associação entre esse polimorfismo e manifestações psiquiátricas outras que não o JP.
Title in English
Association of serotonergic gene haplotypes and impulsiveness
Keywords in English
Gambling
Genetic
Impulse control disorders
Serotonin
Abstract in English
The high prevalence and the great social, familial and personal hazards that appear along with the occurrence of pathological involvement in gambling makes it necessary to systematically investigate vulnerability and resilience factors that may influence the development of such a condition. One of the main strategies in prevention and treatment of these pathological behaviors has been the investigation of the biological-genetic basis of pathological gambling (PG). The present study aimed to determine any association between candidate gene polymorphisms of the serotoninergic system and the occurrence of PG in sib-pairs discordant for this diagnosis. One hundred and forty (140) PG-discordant sib-pairs were evaluated by the Diagnostic and Statistical Manual from the American Psychiatric Association (DSM-IV), who had already been previously genotyped in other studies. We genotyped the polymorphisms which codified: the serotonin transporter (5HTTLPRl/ s polymorphism), the serotonergic receptor subtype 1B (5HT1B G861C polymorphism), and the serotonergic receptor subtype 2A (T102C and C516T polymorphisms). Statistical analysis revealed a greater distribution of the C allele of the T102C polymorphism of the 5HT2A gene in the gambling sib group (p<0,01), suggesting a possible contribution of this allele in the predisposition for PG. Nevertheless, it is necessary to further investigate these polymorphisms in independent samples involving PG phenotype for the adequate confirmation of such findings. A preliminary analysis of the haplotypes (102 and 516) show inconclusive results. It is noteworthy that there are previous associations between this polymorphism and psychiatric manifestations other than PG.
 
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davidwilson.pdf (967.91 Kbytes)
Publishing Date
2008-11-18
 
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