Caracterización genómica de un grupo de individuos con Deterioro Cognitivo Leve (DCL) en población del Atlántico, Colombia

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dc.contributor.advisorPinzón Velasco, Andrés Mauriciospa
dc.contributor.advisorArboleda Bustos, Carlos Eduardospa
dc.contributor.authorLargo González, Johan Hernandospa
dc.contributor.cvlacLargo Gonzalez, Johan Hernando [0000149121]spa
dc.contributor.orcidLargo Gonzalez, Johan Hernando [0000000247872960]spa
dc.contributor.researchgateLargo Gonzalez, Johan Hernando [Johan-Largo-Gonzalez]spa
dc.contributor.researchgroupGrupo de Investigación en Bioinformática y Biología de Sistemasspa
dc.coverage.countryColombiaspa
dc.coverage.regionAtlánticospa
dc.date.accessioned2025-07-14T13:46:18Z
dc.date.available2025-07-14T13:46:18Z
dc.date.issued2025
dc.descriptionilustraciones a color, diagramasspa
dc.description.abstractEl deterioro cognitivo leve (DCL) es una etapa temprana de la enfermedad de Alzheimer (EA), caracterizada por una disminución en la cognición sin llegar a ser demencia. Factores genéticos influyen en su desarrollo, y se han identificado variantes asociadas a su progresión, destacando el alelo APOE-ϵ4 como un marcador clave en la transición de DCL a EA. La prevalencia de DCL varía entre 5,0% y 36,7% a nivel mundial, mientras que en Colombia afecta al 17,5% de la población, con mayor incidencia en la región del Atlántico. A pesar de las herramientas diagnósticas actuales, es necesario un enfoque multiómico para una comprensión más profunda de la enfermedad. Los avances en secuenciación de nueva generación (NGS) permiten identificar factores genéticos clave en enfermedades neurodegenerativas, facilitando el desarrollo de estrategias preventivas y terapéuticas. En este contexto, surge la oportunidad de realizar un estudio de asociación y caracterización genómica en pacientes con DCL y controles de la población del Atlántico, Colombia, con el objetivo de profundizar en los mecanismos genéticos involucrados en esta región, que presenta una alta prevalencia de enfermedades neurodegenerativas (Texto tomado de la fuente).spa
dc.description.abstractMild Cognitive Impairment (MCI) is an early stage of Alzheimer’s disease (AD), characterized by a decline in cognition without reaching the threshold for dementia. Genetic factors influence its development, and several variants associated with its progression have been identified, with the APOE-ϵ4 allele standing out as a key marker in the transition from MCI to AD. The prevalence of MCI ranges from 5.0% to 36.7% worldwide, while in Colombia, it affects 17.5% of the population, with the highest incidence in the Atlántico region. Despite the availability of current diagnostic tools, a multi-omics approach is necessary for a deeper understanding of the disease. Advances in next-generation sequencing (NGS) enable the identification of key genetic factors in neurodegenerative diseases, facilitating the development of preventive and therapeutic strategies. In this context, the opportunity arises to conduct an association study and genomic characterization of MCI patients and controls from the Atlántico region, Colombia, aiming to gain deeper insights into the genetic mechanisms involved in this population, which exhibits a high prevalence of neurodegenerative diseases.eng
dc.description.degreelevelMaestríaspa
dc.description.degreenameMagíster en Bioinformáticaspa
dc.description.methodsPara llevar a cabo el objetivo general del trabajo de grado se determinó un estudio observacional de tipo caso control. Para tal fin se establecieron puntos críticos para el desarrollo del mismo.spa
dc.description.researchareaBiología de Sistemasspa
dc.format.extent78 páginasspa
dc.format.mimetypeapplication/pdfspa
dc.identifier.instnameUniversidad Nacional de Colombiaspa
dc.identifier.reponameRepositorio Institucional Universidad Nacional de Colombiaspa
dc.identifier.repourlhttps://repositorio.unal.edu.co/spa
dc.identifier.urihttps://repositorio.unal.edu.co/handle/unal/88331
dc.language.isospaspa
dc.publisherUniversidad Nacional de Colombiaspa
dc.publisher.branchUniversidad Nacional de Colombia - Sede Bogotáspa
dc.publisher.facultyFacultad de Ingenieríaspa
dc.publisher.placeBogotá, Colombiaspa
dc.publisher.programBogotá - Ingeniería - Maestría en Bioinformáticaspa
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dc.rights.accessrightsinfo:eu-repo/semantics/openAccessspa
dc.rights.licenseAtribución-NoComercial 4.0 Internacionalspa
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/spa
dc.subject.ddc570 - Biología::576 - Genética y evoluciónspa
dc.subject.ddc000 - Ciencias de la computación, información y obras generales::004 - Procesamiento de datos Ciencia de los computadoresspa
dc.subject.ddc610 - Medicina y salud::616 - Enfermedadesspa
dc.subject.decsDisfunción Cognitivaspa
dc.subject.decsCognitive Dysfunctioneng
dc.subject.decsEnfermedad de Alzheimerspa
dc.subject.decsAlzheimer Diseaseeng
dc.subject.decsEnfermedades Neurodegenerativasspa
dc.subject.decsNeurodegenerative Diseaseseng
dc.subject.decsInestabilidad Genómicaspa
dc.subject.decsGenomic Instabilityeng
dc.subject.proposalDeterioro Cognitivo Levespa
dc.subject.proposalAtlánticospa
dc.subject.proposalGWASspa
dc.subject.proposalGenómicaspa
dc.subject.proposalMild Cognitive Impairmenteng
dc.subject.proposalGenomicseng
dc.subject.proposalGWASeng
dc.titleCaracterización genómica de un grupo de individuos con Deterioro Cognitivo Leve (DCL) en población del Atlántico, Colombiaspa
dc.title.translatedGenomic characterization of a cohort with Mild Cognitive Impairment (MCI) in the population of Atlántico, Colombiaeng
dc.typeTrabajo de grado - Maestríaspa
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dcterms.audience.professionaldevelopmentMaestrosspa
dcterms.audience.professionaldevelopmentPúblico generalspa
oaire.accessrightshttp://purl.org/coar/access_right/c_abf2spa

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