Susceptibilidad genética y enfermedad autoinmune reumática: Revisión narrativa

Maynor A. Herrera

doi:10.36829/63CTS.v8i1.907

Authors

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

DOI:

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

Abstract

Autoimmunity is the consequence of the loss of control and regulation of the immune response. It is reported that between 5 and 9% of pathologies occur worldwide. Diseases with this abnormality are called autoimmune and are classified according to the organ or system affected. Rheumatic diseases involve connective tissue and joints. Factors associated with its appearance include age, gender, environment, and genetics. Genetic susceptibility indicates the presence of one or more genes associated with the development of a certain disease, whose expression could be the product of migration, selection, recombination and adaptation of genes between popu- lations, which explains the phenotypic variation and the resulting clinical expression. Genome wide association studies (GWAS) have allowed the identification of multiple genes involved with rheumatic diseases, including systemic lupus erythematosus and rheumatoid arthritis, associated with more than 60 alleles, and others such as ankylosing spondylitis, where the association has been primarily with a gene and its polymorphisms. This review aims to report the status of genetically determined susceptibility to these diseases and the impact it has on clinical expression. A search was carried out in PubMed and the Cochrane library database, articles related to the proposed keywords from the year 2000 were included. The review identifies genes and the association with these diseases, exposes the existing diversity and justifies continuing the search for genes in all populations.

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Author Biography

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

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