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Un estudio de asociación de todo el genoma identifica a IL23R como un gen de enfermedad inflamatoria intestinal

Richard H Duerr¹, Kent D Taylor, Steven R Brant

¹Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, University of Pittsburgh Medical Center Presbyterian, Mezzanine Level, C-Wing, 200 Lothrop Street, Pittsburgh, PA 15213, USA.

Science (New York, N.Y.)

|October 28, 2006

Resumen

Se identificaron factores genéticos en las enfermedades inflamatorias intestinales. El gen IL23R muestra una fuerte asociación con la enfermedad de Crohn, lo que lo sugiere como un objetivo terapéutico potencial para la EII.

Área de la Ciencia:

Genética La genética.
Inmunología Inmunología.
Gastroenterología y Gastroenterología.

Sus antecedentes:

Las enfermedades inflamatorias intestinales (EII), incluida la enfermedad de Crohn y la colitis ulcerosa, son trastornos gastrointestinales crónicos.
Los fundamentos genéticos de la EII siguen siendo incompletamente comprendidos, lo que requiere una mayor investigación sobre los factores que contribuyen.

Objetivo del estudio:

Para identificar los factores genéticos asociados con la enfermedad de Crohn y la colitis ulcerosa.
Investigar el papel del gen IL23R y sus variantes en la patogénesis de la EII.

Principales métodos:

Se realizó un estudio de asociación de todo el genoma (GWAS) para identificar asociaciones genéticas.
Los estudios de replicación en cohortes de pacientes independientes confirmaron los hallazgos iniciales.

Principales resultados:

Se encontró una asociación significativa entre la enfermedad de Crohn y el gen IL23R.
Una variante de codificación específica (rs11209026) en IL23R confiere una protección sustancial contra la enfermedad de Crohn.
Se observaron asociaciones independientes con variantes IL23R no codificantes adicionales.

Conclusiones:

El gen IL23R y la vía de señalización de la interleucina-23 están implicados en la EII.
Estos hallazgos destacan la IL-23 como un objetivo terapéutico prometedor para las enfermedades inflamatorias intestinales.

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