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Determinantes hereditarios de la enfermedad de Crohn y los fenotipos de la colitis ulcerosa: un estudio de asociación

Isabelle Cleynen¹, Gabrielle Boucher², Luke Jostins³

¹Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK; Department of Clinical and Experimental Medicine, TARGID, KU Leuven, Leuven, Belgium.

Lancet (London, England)

|October 23, 2015

Resumen

Este estudio redefine los subtipos de enfermedad inflamatoria intestinal (EII), lo que sugiere que la enfermedad ileal de Crohn, la enfermedad de Crohn del colon y la colitis ulcerosa son genéticamente distintas. La ubicación de la enfermedad, no el comportamiento, es clave para entender la genética de la EII.

Área de la Ciencia:

La genética
Gastroenterología
Inmunología

Sus antecedentes:

La enfermedad inflamatoria intestinal (EII) abarca la enfermedad de Crohn (EC) y la colitis ulcerosa (CU), tratadas históricamente como entidades distintas.
Los estudios genéticos revelan numerosos loci de susceptibilidad a la EII, en gran medida compartidos entre CD y UC.
Comprender la base genética de los subfenotipos de EII es crucial para refinar el diagnóstico y el tratamiento.

Objetivo del estudio:

Llevar a cabo el mayor estudio de genotipo-asociación en subfenotipos de EII hasta la fecha.
Investigar las relaciones biológicas entre las diferentes clasificaciones de EII.
Para determinar si los subfenotipos de EII como la EII colon, la EII ileal y la EII UC son genéticamente distintos.

Principales métodos:

Análisis de 34.819 pacientes en 49 centros utilizando el sistema de clasificación de Montreal.
Genotipado en la matriz de Inmunochip, probando 156.154 variantes genéticas para las asociaciones.
Generación de puntuaciones de riesgo genético (GRS) para evaluar el efecto acumulativo de los alelos conocidos de riesgo de EII en los subfenotipos.

Principales resultados:

Tres loci (NOD2, MHC, 3p21) mostraron asociaciones con subfenotipos de EII, principalmente la ubicación de la enfermedad.
El GRS está fuertemente asociado con el subfenotipo de EII (p=1,65×10−78), distinguiendo el CD colónico del CD ileal.
El GRS identificó pacientes con perfiles genéticos discordantes, que tenían más probabilidades de tener un diagnóstico revisado en el seguimiento.

Conclusiones:

La EII puede representar un continuo mejor clasificado en tres grupos: CD ileal, CD colon y UC.
La ubicación de la enfermedad es un factor intrínseco genéticamente determinado que influye en la progresión y el comportamiento de la EII.
El perfil de riesgo genético ofrece un potencial para mejorar la precisión del diagnóstico en la EII.

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