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Evidencia preliminar para la anticipación genética en la enfermedad de Crohn
J M Polito1, R C Rees, B Childs
1Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
Lancet (London, England)
|March 23, 1996
Resumen
La anticipación genética, caracterizada por la aparición temprana de la enfermedad en las generaciones posteriores, parece ocurrir en la enfermedad de Crohn. Este estudio encontró diagnósticos más tempranos y un aumento de la gravedad de la enfermedad en miembros más jóvenes de la familia, lo que sugiere una base genética para este fenómeno.
Área de la Ciencia:
- Genética La genética.
- Gastroenterología y Gastroenterología.
- Biología Humana Biología Humana.
Sus antecedentes:
- La anticipación genética describe el inicio temprano de la enfermedad o el aumento de la gravedad a través de generaciones.
- Este fenómeno está relacionado con las repeticiones de trinucleótidos expandidos en algunos trastornos neurológicos.
- La enfermedad de Crohn (EC) tiene influencias genéticas, pero estas no se comprenden completamente.
Objetivo del estudio:
- Para investigar la evidencia de anticipación genética en la enfermedad de Crohn.
- Para analizar las diferencias generacionales en el inicio de la enfermedad y la gravedad dentro de las familias.
Principales métodos:
- Revisión retrospectiva de 552 pacientes con enfermedad de Crohn en el Hospital Johns Hopkins.
- Identificación de 27 parejas de parientes de primer grado de dos generaciones de Johns Hopkins.
- Estudio de 32 parejas adicionales de una encuesta multicéntrica.
- Análisis utilizando pruebas t y una generalizada de estimación de ecuaciones modelo de regresión marginal.
Principales resultados:
- La generación más joven en las parejas afectadas mostró una edad más temprana en el diagnóstico (por ejemplo, 18,9 años frente a 31,4 años en la cohorte de Johns Hopkins).
- Los modelos de regresión confirmaron diferencias significativas en la edad en el momento del diagnóstico entre padres e hijos (10,8-15,1 años).
- La evidencia sugiere más diferencias generacionales y una mayor extensión de la enfermedad en la descendencia, particularmente con la transmisión paterna.
Conclusiones:
- Los hallazgos sugieren que la anticipación genética ocurre en la enfermedad de Crohn.
- Un diagnóstico más temprano y una mayor extensión de la enfermedad en parientes más jóvenes apoyan esto.
- La transmisión paterna está asociada con la anticipación de la enfermedad de Crohn.
- Se recomienda una mayor investigación en las regiones de triple repetición.
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