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Mecanismos genéticos de la enfermedad crítica en el COVID-19
Erola Pairo-Castineira1,2, Sara Clohisey1, Lucija Klaric2
1Roslin Institute, University of Edinburgh, Edinburgh, UK.
Nature
|December 11, 2020
Resumen
Las variantes genéticas en pacientes críticos de COVID-19 revelan nuevos objetivos terapéuticos. Los genes clave involucrados en la defensa antiviral y la inflamación sugieren una posible reutilización de medicamentos para la enfermedad grave por coronavirus 2019.
Área de la Ciencia:
- La genética
- Inmunología
- Medicina de cuidados intensivos
Sus antecedentes:
- La inflamación pulmonar mediada por el huésped contribuye significativamente a la mortalidad en casos críticos de COVID-19.
- Identificar los factores genéticos del huésped es crucial para comprender los mecanismos de la enfermedad y desarrollar nuevas terapias.
Objetivo del estudio:
- Realizar un estudio de asociación genómica (GWAS) en pacientes con COVID-19 en estado crítico para identificar las variantes genéticas asociadas con la enfermedad grave.
- Explorar posibles objetivos terapéuticos mediante el análisis de las implicaciones funcionales de las asociaciones genéticas identificadas.
Principales métodos:
- El estudio Genetics Of Mortality In Critical Care (GenOMICC) analizó a 2.244 pacientes con COVID-19 en estado crítico de 208 unidades de cuidados intensivos del Reino Unido.
- Se identificaron y replicaron asociaciones significativas en todo el genoma.
- Se utilizaron estudios de aleatorización mendeliana y de asociación de todo el transcriptoma para investigar la expresión génica y la asociación de enfermedades.
Principales resultados:
- Se identificaron cuatro nuevas asociaciones significativas en todo el genoma: rs10735079 (cluster OAS1/ 2/ 3), rs74956615 (cerca de TYK2), rs2109069 (DPP9) y rs2236757 (IFNAR2).
- La baja expresión de IFNAR2 y la alta expresión de TYK2 se asociaron con COVID-19 que amenaza la vida.
- La alta expresión de CCR2 en el tejido pulmonar se correlacionó con COVID-19 grave.
Conclusiones:
- Los hallazgos genéticos destacan el papel de las respuestas antivirales del huésped y las vías inflamatorias en el COVID-19 grave.
- Los genes y vías identificados presentan objetivos potenciales para reutilizar los medicamentos existentes.
- Se necesitan ensayos clínicos aleatorizados a gran escala para validar estos hallazgos y orientar los cambios en la práctica clínica.
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