Susceptibilidad genética y enfermedad autoinmune reumática: Revisión narrativa

Maynor A. Herrera

doi:10.36829/63CTS.v8i1.907

Autores/as

Maynor A. Herrera Hospital Roosevelt. Unidad de Reumatología https://orcid.org/0000-0002-9753-9592

DOI:

https://doi.org/10.36829/63CTS.v8i1.907

Resumen

La autoinmunidad es la consecuencia de la pérdida de control y regulación de la respuesta inmune. Se reporta que ocurre entre 5 y 9% de patologías a nivel mundial. A las enfermedades con esta anomalía se les denomina autoinmunes y se clasifican de acuerdo con el órgano o sistema afectado. Las reumáticas involucran al tejido conectivo y las articulaciones. Los factores asociados a su aparición incluyen: edad, género, medioambiente y genéticos. La susceptibilidad genética indica la presencia de uno o varios genes asociados al desarrollo de determinada enfermedad, cuya expresión podría ser el producto de la migración, selección, recombinación y adaptación de genes entre las poblaciones, lo que explica la variación fenotípica y la expresión clínica resultante. Los estudios de asociación del genoma completo (GWAS por sus siglas en inglés) han permitido identificar múltiples genes involucrados con enfermedades reumáticas, destacan el lupus eritematoso sistémico y artritis reumatoide, asociadas con más de 60 alelos, y otras como la espondilitis anquilosante, en donde la asociación ha sido primordialmente con un gen y sus polimorfismos. Esta revisión tiene como objetivo informar el estado de la susceptibilidad determinada genéticamente para estas enfermedades y el impacto que tiene sobre la expresión clínica. Se realizó una búsqueda en PubMed y la base de datos de la biblioteca Cochrane, se incluyeron artículos relacionados con las palabras clave propuestas desde el 2000. La revisión identifica genes y la asociación con estas enfermedades, expone la diversidad existente y justifica continuar la búsqueda de genes en todas las poblaciones.

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Biografía del autor/a

Maynor A. Herrera, Hospital Roosevelt. Unidad de Reumatología

Médico y cirujano, con especialidad en Medicina Interna y Reumatologia.

Reumatólogo de la Unidad de Reumatología, Departamento de Medicina Interna-Hospital Roosevelt desde hace 22 años.

Coordinador del post grado de Reumatología Hospital Roosevelt 2009 a la fecha

Citas

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