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eQTL en tejido de colon enfermo identifica genes diana potenciales asociados con EII

Nina C Nishiyama^1,2, Sophie Silverstein^2,3, Kimberly Darlington^2,4

¹Curriculum in Bioinformatics and Computational Biology, Department of Genetics, School of Medicine, Department of Biology, College of Arts and Sciences, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Nature communications

|February 13, 2026

Resumen

Utilizando el análisis de loci de rasgos cuantitativos de expresión (eQTL) en tejido de colon con enfermedades inflamatorias intestinales (EII), los investigadores identificaron 194 genes diana potenciales para 108 loci de EII. Los estudios de eQTL en tejido enfermo son cruciales para comprender las consecuencias de las variantes de la EII.

Área de la Ciencia:

Genética
Inmunología
Gastroenterología

Sus antecedentes:

Los estudios de asociación de genoma completo (GWAS) han identificado más de 300 loci relacionados con enfermedades inflamatorias intestinales (EII).
Los genes específicos a los que se dirigen estos loci asociados con EII siguen siendo en gran medida desconocidos.
La comprensión de estos vínculos genéticos es crucial para la investigación de la patogénesis de la EII.

Objetivo del estudio:

Identificar genes diana potenciales para loci asociados con EII utilizando un análisis de loci de rasgos cuantitativos de expresión (eQTL) centrado en la enfermedad.
Investigar si el uso de tejido de colon de pacientes con EII puede revelar variaciones regulatorias que no se detectan en cohortes sin EII.
Explorar el impacto del estado de la enfermedad en el panorama regulatorio y su asociación con variantes de riesgo de EII.

Principales métodos:

Se realizó un análisis de eQTL centrado en la enfermedad en muestras de tejido de colon de 252 pacientes con EII.
Se compararon los datos de eQTL del tejido de colon con EII con datos de tejido de colon sin EII.
Se analizaron los resultados de eQTL para detectar enriquecimiento con colocalizaciones de GWAS de EII y se identificaron genes diana potenciales.

Principales resultados:

Se identificaron 194 genes diana potenciales para 108 loci de EII integrando datos de eQTL de tejidos de colon con y sin EII.
Se observó un enriquecimiento de eQTL en tejido con EII para colocalizaciones de GWAS de EII.
Se proporcionó evidencia para genes específicos como ABO y TNFRSF14, y se descubrieron genes diana potenciales adicionales en comparación con análisis que utilizan solo tejido sin EII.
Se encontró que el estado de la enfermedad puede alterar el panorama regulatorio, aumentando potencialmente los tamaños del efecto de eQTL.

Conclusiones:

El análisis de eQTL específico de la enfermedad en tejido de colon con EII es valioso para identificar genes diana de variantes asociadas con EII.
El panorama regulatorio puede ser alterado por el estado de la enfermedad, influyendo en los efectos de las variantes genéticas.
Estos hallazgos subrayan la importancia de estudiar el tejido enfermo para comprender completamente las consecuencias funcionales de los loci genéticos asociados con EII.

Palabras clave:

enfermedad inflamatoria intestinal eQTL genética análisis de asociación genómica tejido de colon genes diana variantes genéticas medicina genómica inmunología gastroenterología

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