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Impacto insignificante de las variantes raras de la región codificante del locus autoinmune en la falta de
Karen A Hunt1, Vanisha Mistry, Nicholas A Bockett
1Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.
Nature
|May 24, 2013
Resumen
Las variantes raras de la región de codificación juegan un papel mínimo en la susceptibilidad común a las enfermedades autoinmunes. Este estudio sugiere que la falta de heredabilidad en estas condiciones probablemente se deba a muchas variantes comunes, no a las raras.
Área de la Ciencia:
- Genética La genética.
- Inmunología Inmunología.
- Salud de la población Salud de la población
Sus antecedentes:
- Los estudios de asociación de todo el genoma (GWAS) han identificado numerosas variantes comunes asociadas con enfermedades autoinmunes, pero una parte significativa de la heredabilidad sigue sin explicarse.
- Se supone que las variantes raras contribuyen a esta falta de heredabilidad, lo que lleva a investigar su papel.
Objetivo del estudio:
- Investigar el papel de las variantes raras de la región de codificación en la susceptibilidad a enfermedades autoinmunes comunes.
- Para probar la hipótesis de asociación sintética de una variante rara en todo el genoma.
Principales métodos:
- Descubrimiento simultáneo de variantes basado en la secuenciación de amplicones y genotipización.
- Análisis de exones codificantes en 25 genes conocidos de riesgo de enfermedades autoinmunes.
- Gran estudio de cohorte de 41.911 residentes en el Reino Unido (24.892 casos y 17.019 controles) de origen europeo.
Principales resultados:
- Las variantes raras de región de codificación en los loci conocidos de la enfermedad autoinmune tienen un efecto insignificante en la susceptibilidad a la enfermedad.
- Los hallazgos no apoyan la hipótesis de asociación sintética de variantes raras en todo el genoma.
- El estudio sugiere que las variantes comunes de efecto débil pueden explicar la falta de heredabilidad.
Conclusiones:
- Es poco probable que la falta de heredabilidad en enfermedades autoinmunes comunes se explique por variantes raras de la región de codificación.
- La investigación futura debe centrarse en la contribución de numerosas variantes comunes con pequeños tamaños de efecto al riesgo de enfermedad autoinmune.
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