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Susceptibilidad genética al cáncer: el papel de los polimorfismos en los genes candidatos
Linda M Dong1, John D Potter, Emily White
1Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
JAMA
|May 29, 2008
Resumen
Los estudios de asociación de genes candidatos muestran que casi un tercio de los vínculos de cáncer de variantes genéticas son significativos. Las variantes en las enzimas metabolizadoras, como GSTM1, demuestran asociaciones consistentes y fuertes con el riesgo de cáncer.
Área de la Ciencia:
- Genética La genética.
- Investigación de Investigación del Cáncer.
- Epidemiología La epidemiología.
Sus antecedentes:
- Los avances en el genotipado y la recolección de ADN alimentan los estudios de asociación genética.
- Los estudios de observación incorporan cada vez más datos genéticos.
Objetivo del estudio:
- Evaluar el progreso y el impacto de los estudios de asociación de genes candidatos en la comprensión de la susceptibilidad al cáncer.
- Evaluar la contribución de estos estudios al conocimiento actual.
Principales métodos:
- Revisión sistemática de metaanálisis y análisis agrupados sobre polimorfismos genéticos y riesgo de cáncer publicados hasta marzo de 2008.
- Criterios de inclusión: >= 500 casos, resultado del riesgo de cáncer, exclusión de los marcadores HLA, lengua inglesa.
- La extracción de datos incluyó el sitio del cáncer, el gen, la variante, las estimaciones de los efectos, los intervalos de confianza y las características del estudio.
Principales resultados:
- 161 metaanálisis evaluaron 344 asociaciones de cáncer de variantes genéticas.
- El 28% (98/344) de las asociaciones fueron estadísticamente significativas (P <.05).
- Después de ajustar por la probabilidad de informe de falsos positivos (FPRP), cuatro asociaciones clave siguieron siendo notables, incluyendo GSTM1 nulo y cáncer de vejiga, NAT2 lento acetilador y cáncer de vejiga, MTHFR C677T y cáncer gástrico, y GSTM1 nulo y leucemia aguda.
Conclusiones:
- Casi un tercio de las asociaciones de cáncer con variantes genéticas candidatas mostraron una significación estadística.
- Las variantes en los genes que codifican las enzimas metabolizantes se encuentran entre los hallazgos más consistentes y significativos.
- Las variantes genéticas específicas, como GSTM1 null, muestran asociaciones sólidas con ciertos tipos de cáncer.
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