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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Impacto de los polimorfismos genéticos en la expresión génica de las células inmunes humanas
Benjamin J Schmiedel1, Divya Singh1, Ariel Madrigal1
1La Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA.
Cell
|November 20, 2018
Resumen
La base de datos DICE revela cómo las variantes genéticas afectan la expresión génica en las células inmunes humanas. Muchos genes muestran asociaciones genéticas específicas del tipo de célula, que ofrecen información sobre los mecanismos de la enfermedad.
Área de la Ciencia:
- La genómica
- Inmunología
- Biología de sistemas
Sus antecedentes:
- Las variantes genéticas están vinculadas a enfermedades humanas, pero su impacto en la expresión génica en células inmunes específicas se entiende mal.
- Comprender la regulación génica específica del tipo de célula es crucial para descifrar la patogénesis de la enfermedad.
Objetivo del estudio:
- Establecer la base de datos DICE, catalogando la expresión de las células inmunes, los loci de rasgos cuantitativos de expresión (eQTL) y la epigenómica.
- Identificar las variantes genéticas que influyen en la expresión génica en diversos tipos de células inmunes humanas.
Principales métodos:
- Análisis de la expresión génica y los datos del genotipo en múltiples tipos de células inmunes humanas.
- Identificación de cis-eQTL (cis-asociaciones entre genotipo y expresión génica).
- Investigación de la especificidad celular y las diferencias basadas en el sexo en la expresión génica.
Principales resultados:
- Se identificaron cis-eQTL para 12.254 genes únicos (61% de los genes expresados).
- Se encontró que el 41% de estos genes tenían asociaciones de genotipo únicas para un solo tipo de célula.
- Se observaron diferencias significativas en la expresión génica específica de la célula asociadas con el sexo biológico.
Conclusiones:
- La base de datos DICE proporciona un recurso completo para comprender las influencias genéticas en la función de las células inmunes.
- Los eQTL específicos de tipo celular son comunes, lo que pone de relieve la importancia del contexto celular en la regulación genética.
- Estos hallazgos ofrecen información mecanicista sobre cómo los polimorfismos genéticos contribuyen al riesgo de enfermedad y la patogénesis.
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