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Asociación entre la mutación de inserción en el gen NOD2 y la enfermedad de Crohn en las poblaciones alemana y

J Hampe¹, A Cuthbert, P J Croucher

¹Department of General Internal Medicine, Christian-Albrechts-University, Kiel, Germany.

Lancet (London, England)

|June 27, 2001

Resumen

Una mutación del gen NOD2 aumenta significativamente la susceptibilidad a la enfermedad de Crohn, un tipo de enfermedad inflamatoria intestinal (EII). Este vínculo genético no se observó en pacientes con colitis ulcerosa, lo que indica la especificidad de la enfermedad.

Área de la Ciencia:

Genética La genética.
Gastroenterología y Gastroenterología.
Biología Molecular Biología Molecular

Sus antecedentes:

Los factores genéticos están implicados en la etiología de la enfermedad inflamatoria intestinal (EII).
Estudios anteriores vincularon la EII con el cromosoma 16, una región que contiene el gen NOD2.
El papel de NOD2 en la respuesta inmune a las bacterias lo convierte en un gen candidato.

Objetivo del estudio:

Para investigar la asociación entre las mutaciones del gen NOD2 y la EII.
Para determinar si las mutaciones NOD2 están relacionadas con la enfermedad de Crohn (EC) o la colitis ulcerosa (UC).

Principales métodos:

Secuenciación de la región codificante del gen NOD2.
Genotipización de un polimorfismo de inserción en el gen NOD2.
Análisis de asociación en familias, tríos y controles de EII alemanes y británicos.

Principales resultados:

Se encontró una asociación significativa entre las mutaciones NOD2 y la enfermedad de Crohn (p<0.0001).
No se observó asociación entre las mutaciones NOD2 y la colitis ulcerosa.
Las mutaciones heterocigotas y homocigotas de NOD2 confirieron un aumento sustancial de los riesgos para la enfermedad de Crohn.

Conclusiones:

La mutación de inserción del gen NOD2 es un factor de riesgo significativo para la enfermedad de Crohn.
Las mutaciones NOD2 no parecen aumentar la susceptibilidad a la colitis ulcerosa.

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