Endofenotipos neuropsicológicos y estudio de asociación de 4 polimorfismos -SNPS- en pacientes con diagnóstico de esquizofrenia en una muestra colombiana
| dc.contributor.advisor | Arboleda Granados, Humberto | spa |
| dc.contributor.author | Vanegas Torres, Marìa Teresa | spa |
| dc.contributor.corporatename | Universidad Nacional de Colombia | spa |
| dc.date.accessioned | 2020-08-07T03:39:16Z | spa |
| dc.date.available | 2020-08-07T03:39:16Z | spa |
| dc.date.issued | 2017-11-23 | spa |
| dc.description.abstract | Durante las últimas décadas se han realizado grandes esfuerzos para entender la etiología y patología de la esquizofrenia, sin embargo, en Colombia los estudios de investigación en genética de las enfermedades neuropsiquiátricas son escasos, y no correlacionan el déficit cognitivo presente en los pacientes, con la investigación básica de transmisión de la herencia biológica. En este sentido, se realizó la caracterización de endofenotipos neuropsicológicos y se estableció la asociación de los polimorfismos -SNPs- de los genes COMT (rs4680-Val158Met), GRM3 (rs6465084), NOTCH4 (rs3131296) y CACNA1C (rs2007044) en una muestra Colombiana de pacientes con diagnóstico de Esquizofrenia y un grupo control. Los sujetos fueron seleccionados de la Asociación Colombiana de personas con Esquizofrenia y sus Familias, de la Unidad de Servicios de Salud Santa Clara de la Subred Integrada de Servicios de Salud Centro Oriente E.S.E., y de la población general. La metodología fue consecuente con un diseño transversal con un alcance descriptivo, además, de una orientación epidemiológica de un estudio de asociación a través de un diseño de "Casos y Controles". El protocolo de evaluación estuvo integrado por la algunas subpruebas de la Entrevista Diagnóstica para Estudios Genéticos, que permitió realizar una caracterización de los sujetos explorando los datos personales, los antecedentes psiquiátricos y el tratamiento farmacológico; de igual manera, se realizó la caracterización de los endofenotipos neuropsicológicos mediante la Batería Neuropsicológica de Funciones Ejecutivas y lóbulos Frontales (BANFE -II), y se tomó la toma de una muestra de sangre para la obtención de ADN. Los resultados dejaron en evidencia que no hubo una asociación positiva entre los 4 polimorfismos y la esquizofrenia, ya que los niveles de significancia están por encima de p=>0,05 y predomina en ambos grupos el alelo ancestral para los polimorfismos estudiados. En cuanto al desempeño en las tareas que evalúan memoria de trabajo, flexibilidad cognitiva, control inhibitorio y toma de decisiones, relacionadas con el área orbitomedial y dorsolateral de la corteza prefrontal se observó diferencias estadísticamente significativas entre los casos y los controles, mostrando peor desempeño los participantes con esquizofrenia. Con respecto a la asociación de los resultados genéticos con el perfil cognitivo, se encontró una asociación (sin discriminar casos y controles) de ser portador del alelo A para el gen COMT (rs4680) con peor rendimiento en la prueba Stroop que evalúa la capacidad para inhibir respuestas automáticas. | spa |
| dc.description.abstract | During the last decades, great efforts have been made to understand the etiology and pathology of schizophrenia, however, in Colombia research studies in genetics of neuropsychiatric diseases are scarce, and do not correlate the cognitive deficit present in patients, with Basic research on transmission of biological inheritance. In this sense, the characterization of neuropsychological endophenotypes was carried out and the association of the polymorphisms -SNPs- of the COMT genes (rs4680-Val158Met), GRM3 (rs6465084), NOTCH4 (rs3131296) and CACNA1C (rs2007044) was established in a Colombian sample of patients diagnosed with schizophrenia and a control group. The subjects were selected from the Colombian Association of People with Schizophrenia and their Families, the Santa Clara Health Services Unit of the Integrated Center for Health Services E.S.E., and the general population. The methodology was consistent with a cross-sectional design with a descriptive scope, in addition to an epidemiological orientation of an association study through a "Cases and Controls" design. The evaluation protocol was made up of some subtests of the Diagnostic Interview for Genetic Studies, which allowed for a characterization of the subjects exploring personal data, psychiatric history and pharmacological treatment; Similarly, the characterization of the neuropsychological endophenotypes was carried out using the Neuropsychological Battery of Executive Functions and Frontal Lobes (BANFE-II), and a blood sample was taken to obtain DNA. The results showed that there was no positive association between the 4 polymorphisms and schizophrenia, since the levels of significance are above p => 0.05 and the ancestral allele for the polymorphisms studied predominates in male groups. Regarding the performance in the tasks that evaluate working memory, cognitive flexibility, inhibitory control and decision-making, related to the orbitomedial and dorsolateral area of the prefrontal cortex, statistically significant differences were observed between cases and controls, showing worse performance, participants with schizophrenia. Regarding the association of the genetic results with the cognitive profile, an association (without discriminating cases and controls) was found to be a carrier of the A allele for the COMT gene (rs4680) with worse performance in the Stroop test that assesses the ability to inhibit automatic responses | spa |
| dc.description.comments | La presente investigaciòn se realizò con la participaciòn de la Asociaciòn Colombiana de Personas con Esquizofrenia y sus familias y la -Unidad de Servicios de Salud Santa Clara de la Subred Integrada de Servicios de Salud Centro Oriente E.S.E. | spa |
| dc.description.degreelevel | Maestría | spa |
| dc.format.extent | 154 | spa |
| dc.format.mimetype | application/pdf | spa |
| dc.identifier.citation | Vanegas,M. T. (2020).Endofenotipos neuropsicológicos y estudio de asociación de 4 polimorfismos -snps- en pacientes con diagnóstico de esquizofrenia en una muestra colombiana. [Tesis de maestría, Universidad Nacional de Colombia]. Repositorio Institucional UN. https://repositorio.unal.edu.co/ldap-login | spa |
| dc.identifier.uri | https://repositorio.unal.edu.co/handle/unal/77978 | |
| dc.language.iso | spa | spa |
| dc.publisher.branch | Universidad Nacional de Colombia - Sede Bogotá | spa |
| dc.publisher.program | Bogotá - Medicina - Maestría en Neurociencias | spa |
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| dc.rights | Derechos reservados - Universidad Nacional de Colombia | spa |
| dc.rights.accessrights | info:eu-repo/semantics/openAccess | spa |
| dc.rights.license | Atribución-NoComercial-SinDerivadas 4.0 Internacional | spa |
| dc.rights.spa | Acceso abierto | spa |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | spa |
| dc.subject.ddc | 610 - Medicina y salud | spa |
| dc.subject.ddc | 615 - Farmacología y terapéutica | spa |
| dc.subject.proposal | esquizofrenia | spa |
| dc.subject.proposal | schizophrenia | eng |
| dc.subject.proposal | endofenotipos neuropsicológicos | spa |
| dc.subject.proposal | neuropsychological endophenotypes | eng |
| dc.subject.proposal | funciones ejecutivas | spa |
| dc.subject.proposal | executive functions | eng |
| dc.subject.proposal | estudio de asociación | spa |
| dc.subject.proposal | association study | eng |
| dc.subject.proposal | genes and polymorphisms | eng |
| dc.subject.proposal | genes y polimorfismos | spa |
| dc.title | Endofenotipos neuropsicológicos y estudio de asociación de 4 polimorfismos -SNPS- en pacientes con diagnóstico de esquizofrenia en una muestra colombiana | spa |
| dc.title.alternative | Neuropsychological endophenotypes and association study of 4 polymorphisms -SNPS- in patients with diagnosis of schizophrenia in a colombian sample | spa |
| dc.type | Trabajo de grado - Maestría | spa |
| dc.type.coar | http://purl.org/coar/resource_type/c_bdcc | spa |
| dc.type.coarversion | http://purl.org/coar/version/c_ab4af688f83e57aa | spa |
| dc.type.content | Text | spa |
| dc.type.driver | info:eu-repo/semantics/masterThesis | spa |
| dc.type.version | info:eu-repo/semantics/acceptedVersion | spa |
| oaire.accessrights | http://purl.org/coar/access_right/c_abf2 | spa |