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Las puntuaciones de riesgo de fenotipo identifican a los pacientes con patrones de enfermedad mendeliana no
Lisa Bastarache1, Jacob J Hughey1, Scott Hebbring2
1Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.
Science (New York, N.Y.)
|March 29, 2018
Resumen
Este estudio introduce puntuaciones de riesgo de fenotipo (PheRS) para agregar fenotipos de pacientes basados en patrones de enfermedad mendeliana. Este enfoque mejora la identificación de las asociaciones genéticas y los impactos de las variantes raras.
Área de la Ciencia:
- La genética
- La informática médica
- Biología computacional
Sus antecedentes:
- Los estudios de asociación genética a menudo analizan los fenotipos de forma independiente, pasando potencialmente por alto las influencias genéticas complejas.
- Las subpoblaciones con causas genéticas compartidas que subyacen a múltiples fenotipos pueden pasarse por alto con los métodos tradicionales.
Objetivo del estudio:
- Desarrollar y validar un nuevo enfoque para agregar fenotipos para mejorar la detección de asociaciones genéticas.
- Aprovechar los patrones de las enfermedades mendelianas para crear una herramienta de resumen de fenotipo robusta.
Principales métodos:
- Características clínicas mapeadas de 1204 enfermedades mendelianas en fenotipos extraídos de registros electrónicos de salud (EHR).
- Se han desarrollado puntuaciones de riesgo de fenotipo (PheRS) para resumir la evidencia agregada de fenotipo.
- PheRS validado para distinguir casos y controles de cinco enfermedades mendelianas.
- Se aplicó PheRS a 21.701 individuos con genotipo para identificar asociaciones entre variantes y fenotipos raros.
Principales resultados:
- PheRS distinguió con éxito casos y controles para cinco enfermedades mendelianas en la validación inicial.
- Se identificaron 18 asociaciones entre variantes genéticas raras y fenotipos consistentes con la enfermedad mendeliana en una cohorte grande.
- Se observaron resultados graves, incluidos trasplantes de órganos, en 16 pacientes relacionados con variantes genéticas raras.
Conclusiones:
- Las puntuaciones de riesgo de fenotipo (PheRS) ofrecen un método poderoso para aumentar la interpretación de variantes raras.
- Este enfoque puede identificar subconjuntos de pacientes con causas genéticas distintas, potencialmente aplicables a enfermedades comunes.
- PheRS mejora el descubrimiento de las relaciones genotipo-fenotipo al considerar las características clínicas agregadas.
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