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Vol. 5. Issue 6.
Pages 268-279 (November - December 2009)
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Vol. 5. Issue 6.
Pages 268-279 (November - December 2009)
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Gene polymorphisms and pharmacogenetics in rheumatoid arthritis
Polimorfismos genéticos y farmacogenética en la artritis reumatoide
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Ignacio Rego-Pérez, Mercedes Fernández-Moreno, Vanessa Carreira-García, Francisco J. Blanco
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fblagar@canalejo.org

Corresponding author.
Unidad de Investigación del Envejecimiento Osteoarticular, Laboratorio de Investigación, INIBIC, División de Reumatología, A Coruña, Spain
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Abstract

Rheumatoid arthritis (RA) is a systemic, chronic, and inflammatory disease of unknown aetiology with a genetic predisposition. The advent of new biological agents, as well as the more traditional diseasemodifying anti rheumatic drugs, has resulted in highly efficient therapies for reducing the symptoms and signs of RA; however, not all patients show the same level of response regarding disease progression to these therapies. These variations suggest that RA patients may have different genetic regulatory mechanisms. The extensive polymorphisms revealed in non-coding gene-regulatory regions in the immune system, as well as genetic variations in drug-metabolizing enzymes, suggest that this type of variation is of functional and evolutionary importance and may provide clues for developing new therapeutic strategies. Pharmacogenetics is a rapidly advancing area of research that holds the promise that therapies will soon be tailored to an individual patient's genetic profile.

Chronic and severe forms of gout are frequently wrongly evaluated from the clinical standpoint.

Keywords:
Pharmacogenetics
Pharmacogenomics
Rheumatoid arthritis
Tumor necrosis factor
Interleukin-1
Cytokines
Gene polymorphisms
Resumen

La artritis reumatoide (AR) es una enfermedad inflamatoria, sistémica y crónica de etiología desconocida y con predisposición genética. La llegada de los nuevos agentes biológicos, así como los ya conocidos fármacos antirreumáticos modificadores de la enfermedad, condujeron a una eficacia elevada en los tratamientos de la AR. Sin embargo, no todos los sujetos muestran el mismo grado de progresión de la enfermedad como respuesta a estos tratamientos. Estas variaciones demuestran que los sujetos con AR deben tener diferentes mecanismos de regulación génica. Los polimorfismos detectados en las regiones reguladoras no codificantes del sistema inmune y las variaciones genéticas de las enzimas que metabolizan los fármacos demuestran que este tipo de variaciones tiene una importancia funcional y evolutiva elevada, lo que proporciona nuevas pistas para el desarrollo de nuevas estrategias terapéuticas. La farmacogenética es un campo que avanza rápidamente y promete el desarrollo de tratamientos adaptados al perfil genético del sujeto en un futuro cercano.

Palabras clave:
Farmacogenética
Farmacogenómica
Artritis reumatoide
Factor de necrosis tumoral
Interleucina-1
Citocinas
Polimorfismos genéticos
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