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El SNP humano vincula resultados diferenciales en enfermedades inflamatorias e infecciosas a una vía regulada por

James C Lee¹, Marion Espéli, Carl A Anderson

¹Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK; Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.

|September 17, 2013

Resumen

Una variante genética específica (rs12212067: alelo G) influye en el pronóstico de la enfermedad sin afectar la susceptibilidad. Este factor genético modula las respuestas inflamatorias, impactando condiciones como la enfermedad de Crohn y la artritis reumatoide.

Área de la Ciencia:

Genética La genética.
Inmunología Inmunología.
Enfermedades complejas Enfermedades complejas

Sus antecedentes:

El pronóstico de la enfermedad varía significativamente entre los individuos, lo que afecta los resultados de los pacientes.
Los fundamentos genéticos de esta variabilidad del pronóstico siguen siendo en gran parte inexplorados.
Los estudios de asociación de todo el genoma (GWAS) ofrecen una herramienta poderosa para investigar las influencias genéticas en el curso de la enfermedad.

Objetivo del estudio:

Investigar el papel de los factores genéticos en la determinación del pronóstico de la enfermedad.
Para identificar variantes genéticas específicas asociadas con los resultados de la enfermedad.
Aclarar los mecanismos moleculares que vinculan las variaciones genéticas con el curso de la enfermedad.

Principales métodos:

Análisis de los datos existentes del estudio de asociación de todo el genoma (GWAS).
Identificación y caracterización de un polimorfismo específico no codificante (rs12212067: T > G) en el gen FOXO3A.
Investigación del impacto funcional del alelo menor (G) en las respuestas inflamatorias en monocitos.

Principales resultados:

El alelo menor (G) de rs12212067, aunque no está relacionado con la susceptibilidad a la enfermedad, se asocia con un curso clínico más leve en la enfermedad de Crohn y la artritis reumatoide.
Este alelo también está relacionado con un mayor riesgo de malaria severa.
El transporte del alelo menor limita las respuestas inflamatorias en los monocitos a través de una vía impulsada por FOXO3 que involucra a TGFβ1, reduciendo las citoquinas proinflamatorias (por ejemplo, TNFα) y aumentando las citoquinas antiinflamatorias (por ejemplo, IL-10).

Conclusiones:

Se ha identificado una contribución genética compartida al pronóstico a través de enfermedades distintas.
Esta contribución opera a través de una vía impulsada por FOXO3 que modula las respuestas inflamatorias.
Los hallazgos destacan el potencial de dirigir esta vía para intervenciones terapéuticas para mejorar los resultados de la enfermedad.

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