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Agregación familiar y heredabilidad de la estenosis pilórica
Camilla Krogh1, Thea K Fischer, Line Skotte
1Department of Epidemiology Research, Statens Serum Institut, 5 Artillerivej, DK-2300 Copenhagen S, Denmark. ckr@ssi.dk
JAMA
|June 17, 2010
Resumen
La estenosis pilórica, una cirugía infantil común, muestra una fuerte agregación familiar. Este estudio encontró una heredabilidad del 87%, lo que indica un componente genético significativo en su desarrollo.
Área de la Ciencia:
- Cirugía pediátrica en cirugía pediátrica.
- Genética La genética.
- Epidemiología La epidemiología.
Sus antecedentes:
- La estenosis pilórica es la condición quirúrgica más frecuente en los bebés.
- Informes anteriores sugieren la agregación familiar, pero los roles del entorno compartido frente a la herencia siguen sin estar claros.
Objetivo del estudio:
- Para investigar la agregación familiar de la estenosis pilórica a través de múltiples generaciones.
- Evaluar la influencia del sexo y las contribuciones de los padres en el riesgo de enfermedad.
- Para estimar la heredabilidad de la estenosis pilórica.
Principales métodos:
- Un estudio de cohorte basado en la población incluyó a 1.999.738 niños daneses nacidos entre 1977 y 2008.
- El seguimiento se centró en el primer año de vida, identificando 3362 casos que requerían cirugía por estenosis pilórica.
- La agregación familiar se evaluó utilizando ratios de tasa.
Principales resultados:
- La tasa de incidencia de estenosis pilórica fue de 1,8 por cada 1000 años-persona para solteros y de 3,1 para gemelos.
- Las proporciones de tasa fueron significativamente elevadas para gemelos monozigóticos (182), gemelos dizigóticos (29.4), hermanos (18.5) y primos (3.06).
- La heredabilidad se estimó en un 87%, sin diferencias significativas basadas en el sexo o el linaje parental.
Conclusiones:
- La estenosis pilórica exhibe una fuerte agregación familiar en la población danesa.
- La alta heredabilidad sugiere una influencia genética sustancial en el desarrollo de la condición.
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