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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
Published on: August 21, 2016
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El GWAS y el metanálisis identifican 49 variantes genéticas subyacentes al COVID-19 crítico
Erola Pairo-Castineira1,2,3, Konrad Rawlik1, Andrew D Bretherick1,2,4
1Baillie Gifford Pandemic Science Hub, Centre for Inflammation Research, The Queen's Medical Research Institute, University of Edinburgh, Edinburgh, UK.
Nature
|May 17, 2023
Resumen
Los factores genéticos influyen significativamente en la enfermedad crítica en COVID-19. Este estudio identificó 49 asociaciones en todo el genoma, revelando nuevos objetivos terapéuticos para el COVID-19 grave, incluidas las vías de entrada inflamatorias y virales.
Área de la Ciencia:
- La genética
- Enfermedades infecciosas
- Inmunología
Sus antecedentes:
- La enfermedad crítica en COVID-19 representa un fenotipo homogéneo para los estudios de asociación genética.
- La genética del huésped puede identificar terapias inmunomoduladoras para pacientes críticamente enfermos de COVID-19.
Objetivo del estudio:
- Para identificar asociaciones genéticas y objetivos terapéuticos en pacientes con COVID-19 en estado crítico.
- Combinar datos genéticos a gran escala con genómica funcional para inferir objetivos farmacológicos.
Principales métodos:
- Estudio de asociación de todo el genoma (GWAS) metaanálisis de 24,202 casos críticos de COVID-19.
- Integración de datos de genotipo con secuenciación de genoma completo, expresión génica (TWAS) y aleatorización mendeliana.
Principales resultados:
- Se identificaron 49 asociaciones significativas en todo el genoma, con 16 hallazgos nuevos.
- Se descubrieron objetivos potencialmente farmacológicos en la señalización inflamatoria (JAK1), el inmunometabolismo (SLC2A5, AK5) y la entrada viral (TMPRSS2, RAB2A).
Conclusiones:
- La genética del huésped juega un papel crucial en el COVID-19 grave.
- Los hallazgos genéticos destacan las estrategias terapéuticas potenciales dirigidas a los factores huésped para el tratamiento severo de COVID-19.
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