Caracterización del perfil de expresión  génica mediante secuenciación de próxima  generación y análisis bioinformático en  células mononucleares de sangre  periférica de pacientes colombianos con  artritis reumatoide y su relación  serológica.

Rodríguez Mejía, Yordan Daniel

Publicación:
Caracterización del perfil de expresión génica mediante secuenciación de próxima generación y análisis bioinformático en células mononucleares de sangre periférica de pacientes colombianos con artritis reumatoide y su relación serológica.

dc.contributor.advisor	Hernández Mejía, David
dc.contributor.advisor	López Castro, Omaira Yaneth
dc.contributor.author	Rodríguez Mejía, Yordan Daniel
dc.date.accessioned	2026-09-18T00:56:02Z
dc.date.issued	2026
dc.description.abstract	El presente estudio tiene como objetivo caracterizar el perfil de expresión génica en células mononucleares de sangre periférica (PBMC) de pacientes colombianos con artritis reumatoide (AR), agrupados según su endofenotipo serológico. Se empleó la secuenciación masiva de ARN (Bulk RNA-Seq) para identificar patrones diferenciales de expresión génica asociados con la actividad clínica y las características serológicas de la enfermedad. La cohorte de pacientes estuvo conformada por 39 pacientes, con al menos cuatro individuos por cada uno de los ocho endofenotipos definidos según la combinación de los marcadores FR, ACPA y ANAs. Se realizo un análisis de expresión diferencial que incluyo control de calidad de lecturas, alineamiento contra el genoma humano de referencia (GRCh 38.p14), cuantificación con featureCounts y análisis diferencial mediante DESeq2 en R. Se identificaron genes diferencialmente expresados que están asociados con endofenotipos serológicos específicos, contribuyendo a la comprensión de la desregulación inmunológica característica de la AR.	spa
dc.description.abstract	The aim of this study is to characterize the gene expression profile in peripheral blood mononuclear cells (PBMCs) from Colombian patients with rheumatoid arthritis (RA), grouped according to their serological endophenotype. Bulk RNA-Seq was used to identify differential gene expression patterns associated with clinical activity and the serological characteristics of the disease. The patient cohort consisted of 39 patients, with at least four individuals for each of the eight endophenotypes defined based on the combination of the FR, ACPA, and ANA markers. A differential expression analysis was performed, including read quality control, alignment against the human reference genome (GRCh 38.p14), quantification with featureCounts, and differential analysis using DESeq2 in R. Differentially expressed genes associated with specific serological endophenotypes were identified, contributing to the understanding of the immunological dysregulation characteristic of RA.	eng
dc.description.degreelevel	Pregrado
dc.description.degreename	Bacteriólogo(a) y Laboratorista Clínico
dc.description.tableofcontents	Tabla de contenido 1. Planteamiento del problema 9 2. Justificación 9 3. Objetivos 10 Objetivo general. 10 Objetivos específicos. 10 4. Marco teórico. 11 4.1 Panorama general de la artritis reumatoide. 11 4.2 Bases celulares y moleculares de artritis reumatoide. 12 4.3. Mecanismos moleculares de pérdida de tolerancia 18 4.4 Transcriptómica en artritis reumatoide. 21 5. Estado del arte 23 6. Metodología. 24 6.1 Tipo de muestras. 24 6.2 Clasificación de las muestras. 24 6.3 Extracción de ARN. 25 6.4 Cuantificación y análisis de la integridad del ARN. 25 6.5. Preparación de las librerías. 26 6.6. Secuenciación. 26 6.7. Análisis bioinformático. 26 6.8. Análisis estadístico 26 7. Resultados 28 7.1. Caracterización clínica y serológica de la cohorte de pacientes. 28 7.2. Asociación entre los marcadores serológicos y la actividad clínica de la enfermedad. 28 7.3. Actividad clínica de la enfermedad según endofenotipo. 29 7.4. Estructura global del perfil transcriptómico de las muestras según endofenotipo clínico. 34 7.5. Patrones de expresión génica intragrupo según endofenotipo clínico. 37 7.6. Análisis comparativo de la expresión génica entre endofenotipos clínicos y optimización del conjunto de datos. 39 7.7. Reevaluación de la estructura transcriptómica tras la depuración del conjunto de datos. 43 7.8. Análisis de enriquecimiento funcional de los genes diferencialmente expresados. 48 7.9. Reclasificación transcriptómica de las muestras basada en perfiles de expresión génica. 54 8. Discusión 69 9. Conclusiones 72 10. Limitaciones del estudio 73 11. Bibliografia. 73	spa
dc.format.extent	84p.
dc.format.mimetype	application/pdf
dc.identifier.uri	https://repositorio.universidadmayor.edu.co/handle/unicolmayor/7807
dc.language.iso	spa
dc.publisher	Universidad Colegio Mayor de Cundinamarca
dc.publisher.faculty	Facultad de Ciencias de la Salud
dc.publisher.place	Bogota
dc.publisher.program	Bacteriología y Laboratorio Clínico
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dc.rights.uri	https://creativecommons.org/licenses/by-nc-sa/4.0/
dc.subject.proposal	Artritis reumatoide
dc.subject.proposal	Expresión génica
dc.subject.proposal	RNA-seq
dc.subject.proposal	Endofenotipos serológicos
dc.subject.proposal	PBMC
dc.subject.proposal	Transcriptómica
dc.title	Caracterización del perfil de expresión génica mediante secuenciación de próxima generación y análisis bioinformático en células mononucleares de sangre periférica de pacientes colombianos con artritis reumatoide y su relación serológica.	spa
dc.type	Trabajo de grado - Pregrado
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dc.type.coarversion	http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.content	Text
dc.type.driver	info:eu-repo/semantics/bachelorThesis
dc.type.redcol	http://purl.org/redcol/resource_type/TP
dc.type.version	info:eu-repo/semantics/publishedVersion
dspace.entity.type	Publication