Estudio de asociación entre genotipo de DAT1 y transtorno por déficit de atención / hiperactividad
| Contribuinte(s) |
Galvez Bermudez, Jubby Marcela Mateus Arbelaez, Heidi Eliana Velez- van-Meerbeke, Alberto Fonseca-Mendoza, Dora Janeth Talero-Gutiérrez, Claudia |
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| Data(s) |
05/02/2013
31/12/1969
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| Resumo |
Introducción: El TDAH tiene un componente genético importante; el gen de transportador de Dopamina (DAT1) se ha asociado con susceptibilidad al TDAH y con sus endofenotipos. El VNTR de 40pb en la región 3’UTR aumenta la expresión del DAT1. En Colombia no hay ningún estudio previo que indique evidencia de la asociación genética entre TDAH y el gen DAT1. Objetivo: Determinar asociación entre el VNTR del DAT1 y el fenotipo y/o endofenotipos del TDAH. Métodos: Se seleccionaron 73 pacientes con TDAH y 75 controles, se valoró en los casos inteligencia y funciones ejecutivas. Mediante (PCR) se amplificó el VNTR DAT1. Se establecieron estadísticos genético poblacionales, análisis de asociación y de regresión logística entre las pruebas neuropsicológicas y genotipo. Resultado: El polimorfismo del DAT1 no mostró asociación con TDAH, ni con alteraciones en las funciones ejecutivas. El genotipo 10/10 del VNTR DAT1 se encontró asociado con el índice de velocidad de procesamiento (p <0,05). En el subgrupo hiperactividad hubo asociación con algunas subpruebas de flexibilidad cognitiva, número de respuestas correctas, total de errores, número de respuestas perseverativas (p ≤ 0.01). En el subgrupo mixto se asoció con índice de comprensión verbal (p <0,05). Conclusiones: No hubo asociación entre el polimorfismo VNTR (DAT1) y el fenotipo de TDAH. Se encontraron asociaciones entre genotipo y algunos test de flexibilidad cognitiva e índice de comprensión verbal. Se establecieron los estadísticos genético poblacionales de este polimorfismo para la población analizada, el cual corresponde al primer reporte de una muestra de nuestro país. Introduction: ADHD has a strong genetic component. The dopamine transporter gene (DAT1) has been associated with susceptibility to ADHD and its endophenotypes. 40pb VNTR region in the 3'UTR of DAT1 increases its expression. In Colombia there are no previous studies showing evidence of genetic association between ADHD and DAT1 gene. Objective: To determine the association between the DAT1 VNTR and the phenotype and / or endophenotypes of ADHD. Methods: We selected 73 patients with ADHD and 75 controls. Cases were assessed for intelligence and executive functions. The VNTR in DAT1 was PCR-amplified. Population genetic and statistical analyses were performed. Logistic regression between genotype and neuropsychological testing was run. Results: The DAT1 polymorphism was not associated with ADHD, or disturbances in executive functions. The 10/10 genotype of the DAT1 VNTR was associated with the processing speed index (p <0.05). In patients with hyperactivity subgroup the genotype was associated to some subtests of cognitive flexibility, number of correct responses, total errors and perseverative response rate (p ≤ 0.01). In mixed subgroup it was associated with verbal comprehension index (p <0.05). Conclusions: There was no association between the VNTR polymorphism of DAT1 and ADHD. Associations were found between genotype and some test of cognitive flexibility and verbal comprehension index. Population genetic statistics of this genetic polymorphism were established for the study population, which corresponds to the first report in our country. |
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application/pdf |
| Identificador | |
| Idioma(s) |
spa |
| Publicador |
Facultad de Medicina |
| Direitos |
info:eu-repo/semantics/embargoedAccess |
| Fonte |
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| Palavras-Chave | #TRASTORNO POR DÉFICIT DE ATENCIÓN E HIPERACTIVIDAD - INVESTIGACIONES #TRASTORNO POR DÉFICIT DE ATENCIÓN E HIPERACTIVIDAD – ASPECTOS GENÉTICOS #attention deficit disorder and hyperactivity disorder (ADHD) #executive function #VNTR #DAT1 #genetics |
| Tipo |
info:eu-repo/semantics/bachelorThesis info:eu-repo/semantics/acceptedVersion |
