Descubriendo los vínculos genéticos entre la esclerosis múltiple y el glaucoma

La esclerosis múltiple (MS) es una enfermedad neurodegenerativa que afecta al sistema nervioso central, es una enfermedad compleja, es decir, presenta una gran poligenicidad. Actualmente no existe una prueba que permita su detección temprana, lo que implica que al momento de su diagnosis ya se puede...

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Autores:
Valero Puentes, Sebastian David
Tipo de recurso:
https://purl.org/coar/resource_type/c_7a1f
Fecha de publicación:
2024
Institución:
Universidad El Bosque
Repositorio:
Repositorio U. El Bosque
Idioma:
spa
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oai:repositorio.unbosque.edu.co:20.500.12495/17978
Acceso en línea:
https://hdl.handle.net/20.500.12495/17978
Palabra clave:
Glaucoma
Esclerosis múltiple
Glaucoma Primario de Ángulo Abierto
Capa de Fibras Nerviosas de la Retina
Capa Plexiforme Interna de Células Ganglionares
570
Glaucoma
Multiple Sclerosis
Primary Open-Angle Glaucoma
Retinal Nerve Fiber Layer
Ganglion Cell–Inner Plexiform Layer
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Attribution-NonCommercial-ShareAlike 4.0 International
id UNBOSQUE2_9c288f46ddd1cbabd7ed4b1acc0536a3
oai_identifier_str oai:repositorio.unbosque.edu.co:20.500.12495/17978
network_acronym_str UNBOSQUE2
network_name_str Repositorio U. El Bosque
repository_id_str
dc.title.none.fl_str_mv Descubriendo los vínculos genéticos entre la esclerosis múltiple y el glaucoma
dc.title.translated.none.fl_str_mv Discovering the genetic links between multiple sclerosis and glaucoma
title Descubriendo los vínculos genéticos entre la esclerosis múltiple y el glaucoma
spellingShingle Descubriendo los vínculos genéticos entre la esclerosis múltiple y el glaucoma
Glaucoma
Esclerosis múltiple
Glaucoma Primario de Ángulo Abierto
Capa de Fibras Nerviosas de la Retina
Capa Plexiforme Interna de Células Ganglionares
570
Glaucoma
Multiple Sclerosis
Primary Open-Angle Glaucoma
Retinal Nerve Fiber Layer
Ganglion Cell–Inner Plexiform Layer
title_short Descubriendo los vínculos genéticos entre la esclerosis múltiple y el glaucoma
title_full Descubriendo los vínculos genéticos entre la esclerosis múltiple y el glaucoma
title_fullStr Descubriendo los vínculos genéticos entre la esclerosis múltiple y el glaucoma
title_full_unstemmed Descubriendo los vínculos genéticos entre la esclerosis múltiple y el glaucoma
title_sort Descubriendo los vínculos genéticos entre la esclerosis múltiple y el glaucoma
dc.creator.fl_str_mv Valero Puentes, Sebastian David
dc.contributor.advisor.none.fl_str_mv Diaz Torres, Santiago
dc.contributor.author.none.fl_str_mv Valero Puentes, Sebastian David
dc.contributor.orcid.none.fl_str_mv Valero Puentes, Sebastian David [0000-0001-7942-2641]
dc.subject.none.fl_str_mv Glaucoma
Esclerosis múltiple
Glaucoma Primario de Ángulo Abierto
Capa de Fibras Nerviosas de la Retina
Capa Plexiforme Interna de Células Ganglionares
topic Glaucoma
Esclerosis múltiple
Glaucoma Primario de Ángulo Abierto
Capa de Fibras Nerviosas de la Retina
Capa Plexiforme Interna de Células Ganglionares
570
Glaucoma
Multiple Sclerosis
Primary Open-Angle Glaucoma
Retinal Nerve Fiber Layer
Ganglion Cell–Inner Plexiform Layer
dc.subject.ddc.none.fl_str_mv 570
dc.subject.keywords.none.fl_str_mv Glaucoma
Multiple Sclerosis
Primary Open-Angle Glaucoma
Retinal Nerve Fiber Layer
Ganglion Cell–Inner Plexiform Layer
description La esclerosis múltiple (MS) es una enfermedad neurodegenerativa que afecta al sistema nervioso central, es una enfermedad compleja, es decir, presenta una gran poligenicidad. Actualmente no existe una prueba que permita su detección temprana, lo que implica que al momento de su diagnosis ya se pueden haber desarrollado síntomas como la neuritis óptica. Por su parte, el glaucoma (GC) corresponde a una neuropatía óptica que puede presentarse como una comorbilidad de MS, provocando defectos en el campo visual debido a la pérdida progresiva de células ganglionares en la capa de fibras nerviosas de la retina (RNFL). Se desconoce si existe una relación genética causal entre las dos condiciones y la dirección de su asociación, aun cuando estudios observacionales han demostrado que los pacientes diagnosticados con MS pueden presentar GC con una prevalencia mayor al 15%. El presente trabajo evaluó los vínculos genéticos presentes entre estas dos afecciones, mediante el análisis de la influencia del riesgo genético de MS en marcadores clínicos de neuropatía óptica. Tales como RNFL y el grosor de la capa plexiforme interna de células ganglionares (GCIPL). Para tal efecto, se llevaron a cabo análisis de aleatorización mendeliana (MR) y el puntaje de riesgo poligénico (PRS). Encontrando que la aparente relación causal entre MS y el glaucoma primario de ángulo abierto (POAG) se encuentra mediada por la RNFL a través de mecanismos pleiotrópicos entre las enfermedades, siendo consistente con los resultados de correlación genética y colocalización entre los dos fenotipos (MS y POAG). Finalmente, se identificó el potencial de modelos de predicción que combinen el puntaje de riesgo poligénico de RNFL y MS como una herramienta para identificar pacientes con riesgo de desarrollar MS a una edad más temprana. Facilitando el desarrollo de estrategias que propicien una detección temprana de la condición, previniendo así la degeneración del nervio óptico.
publishDate 2024
dc.date.issued.none.fl_str_mv 2024-05
dc.date.accessioned.none.fl_str_mv 2025-10-17T15:19:01Z
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_7a1f
dc.type.local.spa.fl_str_mv Tesis/Trabajo de grado - Monografía - Pregrado
dc.type.coar.none.fl_str_mv https://purl.org/coar/resource_type/c_7a1f
dc.type.driver.none.fl_str_mv info:eu-repo/semantics/bachelorThesis
dc.type.coarversion.none.fl_str_mv https://purl.org/coar/version/c_ab4af688f83e57aa
format https://purl.org/coar/resource_type/c_7a1f
dc.identifier.uri.none.fl_str_mv https://hdl.handle.net/20.500.12495/17978
dc.identifier.instname.spa.fl_str_mv instname:Universidad El Bosque
dc.identifier.reponame.spa.fl_str_mv reponame:Repositorio Institucional Universidad El Bosque
dc.identifier.repourl.none.fl_str_mv repourl:https://repositorio.unbosque.edu.co
url https://hdl.handle.net/20.500.12495/17978
identifier_str_mv instname:Universidad El Bosque
reponame:Repositorio Institucional Universidad El Bosque
repourl:https://repositorio.unbosque.edu.co
dc.language.iso.fl_str_mv spa
language spa
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spelling Diaz Torres, SantiagoValero Puentes, Sebastian DavidValero Puentes, Sebastian David [0000-0001-7942-2641]2025-10-17T15:19:01Z2024-05https://hdl.handle.net/20.500.12495/17978instname:Universidad El Bosquereponame:Repositorio Institucional Universidad El Bosquerepourl:https://repositorio.unbosque.edu.coLa esclerosis múltiple (MS) es una enfermedad neurodegenerativa que afecta al sistema nervioso central, es una enfermedad compleja, es decir, presenta una gran poligenicidad. Actualmente no existe una prueba que permita su detección temprana, lo que implica que al momento de su diagnosis ya se pueden haber desarrollado síntomas como la neuritis óptica. Por su parte, el glaucoma (GC) corresponde a una neuropatía óptica que puede presentarse como una comorbilidad de MS, provocando defectos en el campo visual debido a la pérdida progresiva de células ganglionares en la capa de fibras nerviosas de la retina (RNFL). Se desconoce si existe una relación genética causal entre las dos condiciones y la dirección de su asociación, aun cuando estudios observacionales han demostrado que los pacientes diagnosticados con MS pueden presentar GC con una prevalencia mayor al 15%. El presente trabajo evaluó los vínculos genéticos presentes entre estas dos afecciones, mediante el análisis de la influencia del riesgo genético de MS en marcadores clínicos de neuropatía óptica. Tales como RNFL y el grosor de la capa plexiforme interna de células ganglionares (GCIPL). Para tal efecto, se llevaron a cabo análisis de aleatorización mendeliana (MR) y el puntaje de riesgo poligénico (PRS). Encontrando que la aparente relación causal entre MS y el glaucoma primario de ángulo abierto (POAG) se encuentra mediada por la RNFL a través de mecanismos pleiotrópicos entre las enfermedades, siendo consistente con los resultados de correlación genética y colocalización entre los dos fenotipos (MS y POAG). Finalmente, se identificó el potencial de modelos de predicción que combinen el puntaje de riesgo poligénico de RNFL y MS como una herramienta para identificar pacientes con riesgo de desarrollar MS a una edad más temprana. Facilitando el desarrollo de estrategias que propicien una detección temprana de la condición, previniendo así la degeneración del nervio óptico.QIMR- Berghofer Medical Research InstituteUniversity of QueenslandBiólogoPregradoMultiple sclerosis (MS) is a neurodegenerative disease that affects the central nervous system. It is a complex disease characterized by high polygenicity. Currently, there is no test available for its early detection, meaning that by the time of diagnosis, symptoms such as optic neuritis may have already developed. Glaucoma (GC), on the other hand, is an optic neuropathy that can occur as a comorbidity of MS, causing visual field defects due to the progressive loss of ganglion cells in the retinal nerve fiber layer (RNFL). It is unknown whether there is a causal genetic relationship between the two conditions and the direction of their association, even though observational studies have shown that patients diagnosed with MS can present GC with a prevalence greater than 15%. This study evaluated the genetic links between these two conditions by analyzing the influence of MS genetic risk on clinical markers of optic neuropathy, such as RNFL and the ganglion cell-inner plexiform layer (GCIPL) thickness. To this end, Mendelian randomization (MR) and polygenic risk score (PRS) analyses were conducted. The findings indicate that the apparent causal relationship between MS and primary open-angle glaucoma (POAG) is mediated by RNFL through pleiotropic mechanisms between the diseases. This is consistent with genetic correlation and colocalization results between the two phenotypes (MS and POAG). Finally, the potential of prediction models combining the polygenic risk scores of RNFL and MS was identified as a tool to identify patients at risk of developing MS at an earlier age, facilitating the development of strategies that promote early detection of the condition and thereby prevent optic nerve degeneration.application/pdfAttribution-NonCommercial-ShareAlike 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-sa/4.0/Acceso abiertohttps://purl.org/coar/access_right/c_abf2http://purl.org/coar/access_right/c_abf2GlaucomaEsclerosis múltipleGlaucoma Primario de Ángulo AbiertoCapa de Fibras Nerviosas de la RetinaCapa Plexiforme Interna de Células Ganglionares570GlaucomaMultiple SclerosisPrimary Open-Angle GlaucomaRetinal Nerve Fiber LayerGanglion Cell–Inner Plexiform LayerDescubriendo los vínculos genéticos entre la esclerosis múltiple y el glaucomaDiscovering the genetic links between multiple sclerosis and glaucomaBiologíaUniversidad El BosqueFacultad de CienciasTesis/Trabajo de grado - Monografía - Pregradohttps://purl.org/coar/resource_type/c_7a1fhttp://purl.org/coar/resource_type/c_7a1finfo:eu-repo/semantics/bachelorThesishttps://purl.org/coar/version/c_ab4af688f83e57aaBazelier MT, Mueller-Schotte S, Leufkens HG, Uitdehaag BM, van Staa T, de Vries F. 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