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Vol. 4. Núm. S1.
Monográfico: Enfermedades sistémicas autoinmunitarias
Páginas 1-4 (marzo 2008)
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Vol. 4. Núm. S1.
Monográfico: Enfermedades sistémicas autoinmunitarias
Páginas 1-4 (marzo 2008)
Enfermedades sistémicas autoinmunitarias
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Factores genéticos comunes en autoinmunidad
Common Genetic Factors in Autoimmunity
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Blanca Rueda
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Correspondencia: Dra. Blanca Rueda. Instituto de Parasitología y Biomedicina López-Neyra. CSIC. Granada. España. Avda. del Conocimienbto, s/n. Armilla. 18100 Granada. España.
, Gisela Orozco, Elena Sánchez, Javier Oliver, Javier Martín
Instituto de Parasitología y Biomedicina López-Neyra. CSIC. Granada. España
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Las enfermedades autoinmunitarias, entre las que se incluyen la artritis reumatoide (RA) o el lupus eritematoso sistémico (LES), se caracterizan por tener una etiología compleja, en la que varios factores genéticos de susceptibilidad y factores ambientales interaccionan y resultan en una respuesta inmunitaria alterada. Hay diversos indicios de que existen elementos genéticos comunes de predisposición a las enfermedades autoinmunitarias, como la existencia de regiones cromosómicas asociadas a numerosas enfermedades autoinmunitarias y que haya patrones de expresión génica similares en varias de ellas. La identificación de factores genéticos comunes asociados con autoinmunidad es de gran relevancia, ya que contribuiría a comprender mejor la patogenia de estas enfermedades, desarrollar nuevas estrategias de diagnóstico a escala molecular e identificar posibles nuevas dianas terapéuticas. En los últimos años se ha producido un gran avance en el conocimiento de los marcadores genéticos comunes asociados a las enfermedades autoinmunitarias. El gen PTPN22, importante regulador de la respuesta de los linfocitos T, se ha perfilado como un importante marcador genético de autoinmunidad. Este gen está implicado en la susceptibilidad a diversas enfermedades autoinmunitarias como el LES, la diabetes mellitus tipo 1 (DM1) y la RA, en la que la asociación con el gen PTPN22 se ha convertido en la más sólida y repetida después de la asociación con los genes HLA. También se han identificado como nuevos marcadores genéticos de susceptibilidad a las enfermedades autoinmunitarias genes implicados en la alteración del equilibrio de citocinas como los genes MIF e IRF5.

Palabras clave:
Condrocito
Morfogénesis esquelética
Artrosis

Autoimmune diseases (AIDs), including rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) among others, are characterized by a complex etiology in which the combination of several genetic and environmental factors leads to an altered immune response. Several lines of evidence, such as the presence of chromosomal regions associated with several AIDs and the existence of similar gene expression patterns in autoimmune disorders, suggest that different AIDs share common genetic factors. The identification of common genetic factors associated with autoimmunity is of great relevance, since it will allow a better understanding of disease pathogenesis and could help for the development of molecular diagnosis tools and new therapeutic targets. In the past few years, a great progress has been made in the knowledge of the common genetic factors associated with autoimmunity. The PTPN22 gene, an important regulator of T cell response, has been identified as a relevant genetic marker for AIDs. This gene is implicated in the susceptibility to autoimmune disorders such as, RA, SLE, and type 1 diabetes (T1D). In the case of RA the association with the PTPN22 gene is the most replicated after association with HLA genes. In addition, genes implicated in the altered balance between cytokines, such as MIF and IRF5, have been identified as genetic factors predisposing to AIDs.

Key words:
Chondrocyte differentiation
Skeletal morphogenesis
Osteoarthritis
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Copyright © 2008. Elsevier España S.L. Barcelona
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