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Estudio de Asociación del Genoma Completo para la Hipertensión Ocular Inducida por Glucocorticoides

Jyoti Lama, Renee Liu, Alicia Huerta-Chagoya

medRxiv : the preprint server for health sciences

|January 8, 2026

Resumen

Este estudio identificó variantes genéticas relacionadas con cambios en la presión intraocular (PIO) después del tratamiento con glucocorticoides (GC). Estos hallazgos mejoran nuestra comprensión de la PIO inducida por GC y pueden informar futuras estrategias terapéuticas.

Área de la Ciencia:

Oftalmología
Genética
Farmacogenómica

Sus antecedentes:

Los glucocorticoides (GC) se usan ampliamente para tratar la inflamación ocular, pero pueden inducir una elevación significativa de la presión intraocular (PIO).
Identificar factores genéticos que influyen en esta respuesta es crucial para las estrategias de tratamiento personalizadas y el manejo del riesgo de glaucoma.

Objetivo del estudio:

Descubrir variantes genéticas asociadas con cambios en la presión intraocular (PIO) después de la exposición a glucocorticoides (GC).
Utilizar el estudio de asociación del genoma completo (GWAS) y la secuenciación del exoma completo (WES) para analizar las contribuciones genéticas a la PIO inducida por GC.
Identificar genes y variantes específicas que pueden modular la respuesta hipertensiva ocular a los GC.

Principales métodos:

Análisis de 530 participantes de los ensayos FAME y 588 de la cohorte MEE/RHC, todos expuestos a GC, principalmente por inyección intravítrea.
Se tomaron mediciones seriadas de PIO dentro de los seis meses posteriores a la exposición a GC.
Se realizaron análisis de asociación del genoma completo (GWAS) y de carga de variantes raras, ajustando por covariables relevantes.

Principales resultados:

Se identificó una variante de significancia genómica, rs13425173 en el locus UBE2E3, para el cambio máximo de PIO en la cohorte FAME (P=2.88 X 10^-8).
El metaanálisis de las cohortes FAME y MEE/RHC confirmó rs1040227 en UBE2E3 como genómicamente significativo (P=2.88 X 10^-8).
El análisis de colocalización vinculó el locus UBE2E3 con la regulación de la expresión génica, y el análisis a nivel de gen mostró la significancia de UBE2E3 (P=6 X 10^-6). El gen MSTO1 superó la corrección FDR en el análisis WES.

Conclusiones:

Se han identificado variantes comunes de significancia genómica asociadas con el cambio de PIO inducido por GC.
Se descubrieron genes específicos y variantes raras que influyen potencialmente en la elevación de la PIO inducida por GC.
Estos hallazgos contribuyen a la comprensión de la base genética de las respuestas hipertensivas oculares a los GC.

Palabras clave:

hipertensión ocular glucocorticoides presión intraocular estudio de asociación del genoma completo genética farmacogenómica

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