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Doctoral Thesis
DOI
10.11606/T.5.2007.tde-24102007-140537
Document
Author
Full name
Quirino Cordeiro Junior
E-mail
Institute/School/College
Knowledge Area
Date of Defense
Published
São Paulo, 2007
Supervisor
Committee
Vallada Filho, Homero Pinto (President)
Barbosa, Nádia Rezende
Busatto Filho, Geraldo
Elkis, Helio
Guindalini, Camila Santa Cruz
Title in Portuguese
Estudo de associação entre genes do sistema dopaminérgico e esquizofrenia
Keywords in Portuguese
Alelos
Catecol O-metiltransferase
Esquizofrenia
Estudos de casos e controles
Proteínas da membrana plasmática de transporte de dopamina
Receptores de dopamina D3
Receptores dopaminérgicos do tipo D2
Transtornos psicóticos
Abstract in Portuguese
Evidências de estudos genético-epidemiológicos têm demonstrado a existência de um fator de risco genético para o desenvolvimento da esquizofrenia. Na presente Tese, um total de 245 pacientes com esquizofrenia e 834 controles foi selecionado com o objetivo de investigar a diferença na distribuição de alelos e genótipos de seis polimorfismos de quatro diferentes genes do sistema dopaminérgico nesses dois grupos: 1. TaqI A1/A2 do DRD2 - rs1800497; 2. -141C (Ins/Del) do DRD2 - rs1799732; 3. Ser-9-Gly do DRD3 - rs6280; 4. VNTR da região 3´ não-codificadora do SLC6A3; 5. A1343G do SLC6A3 - rs6347; 6. A/G da região 3´ não-codificadora do COMT - rs165599. Os resultados mostraram associação dos polimorfismos -141C (Ins/Del) do DRD2 (rs1799732) e A1343G do SLC6A3 (rs6347) com esquizofrenia na amostra investigada.
Title in English
Study of association between genes of the dopaminergic system and schizophrenia
Keywords in English
Alleles
Case-control studies
Catechol O-methyltransferase
Dopamine plasma membrane transport proteins
Psychotic disorders
Receptors dopamine D2
Receptors dopamine D3
Schizophrenia
Abstract in English
Evidences from genetic epidemiological studies have demonstrated the existence of a genetic risk factor for schizophrenia. In the present work a total of 245 schizophrenic patients and 834 controls were selected to investigate differences in the allelic and genotypic distribution of six polymorphisms from four different genes of the dopaminergic system between the groups: 1. TaqI A1/A2 of the DRD2 - rs1800497; 2. -141C (Ins/Del) of the DRD2 - rs1799732; 3. Ser-9-Gly of the DRD3 - rs6280; 4. VNTR in the 3'-untranslated region of the SLC6A3; 5. A1343G of the SLC6A3 - rs6347; 6. A/G in the 3'-untranslated region of the COMT - rs165599. The results have found an association of the polymorphisms -141C (Ins/Del) of the DRD2 (rs1799732) and A1343G of the SLC6A3 (rs6347) with schizophrenia in the investigated sample.
 
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quirinocordeirojr.pdf (1.14 Mbytes)
Publishing Date
2007-11-06
 
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