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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Published on: June 15, 2011

Grandes microdeleciones recurrentes asociadas con la esquizofrenia.

Hreinn Stefansson1, Dan Rujescu, Sven Cichon

  • 1CNS Division, deCODE genetics, Sturlugata 8, IS-101 Reykjavík, Iceland.

Nature
|August 1, 2008
PubMed
Resumen

Las variaciones raras del número de copias (CNV) están vinculadas al riesgo de esquizofrenia. Este estudio identificó tres deleciones específicas asociadas con la esquizofrenia, destacando el papel de las variantes genéticas raras en los trastornos mentales graves.

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Área de la Ciencia:

  • Genética La genética.
  • La psiquiatría es la psiquiatría.
  • La medicina genómica es la medicina genómica.

Sus antecedentes:

  • La reducción de la fecundidad en trastornos mentales graves ejerce una presión de selección negativa sobre los alelos de riesgo.
  • Esto puede explicar la falta de variantes comunes que confieran riesgo de autismo, esquizofrenia y retraso mental.
  • Las variantes raras pueden contribuir más significativamente al riesgo genético general de lo que se pensaba anteriormente.

Objetivo del estudio:

  • Para identificar las variaciones del número de copias (CNV) asociadas con la esquizofrenia utilizando un enfoque genómico.
  • Investigar el papel de los VNC de novo en la etiología genética de la esquizofrenia.
  • Validar la asociación de las CNV identificadas con la esquizofrenia y las psicosis relacionadas.

Principales métodos:

  • Análisis de todo el genoma de 9.878 transmisiones madre-hijo para identificar de novo las CNV.
  • Pruebas de asociación de 66 CNV de novo en 1.433 casos de esquizofrenia y 33.250 controles (Fase I).
  • Análisis de replicación de eliminaciones significativas en una segunda muestra de 3.285 casos y 7.951 controles (Fase II).

Principales resultados:

  • Tres deleciones en 1q21.1, 15q11.2 y 15q13.3 mostraron una asociación nominal con esquizofrenia en la Fase I.
  • Las tres eliminaciones se asociaron significativamente con la esquizofrenia y las psicosis relacionadas en la muestra combinada.
  • Estos VNC identificados son raros, recurrentes y sujetos a selección negativa.

Conclusiones:

  • Las VNC raras y recurrentes en 1q21.1, 15q11.2 y 15q13.3 son factores de riesgo significativos para la esquizofrenia.
  • El análisis de CNV es una herramienta valiosa para identificar variantes de riesgo genético en la esquizofrenia.
  • Esta investigación puede guiar el descubrimiento de variantes de riesgo prevalentes adicionales en genes y vías relacionadas con la esquizofrenia.