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Un elemento polimórfico de respuesta p53 en el ligando KIT influye en el riesgo de cáncer y ha sufrido selección

Jorge Zeron-Medina¹, Xuting Wang, Emmanouela Repapi

¹Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Old Road Campus Research Building, Oxford OX3 7DQ, UK.

|October 15, 2013

Resumen

Las variaciones hereditarias en los sitios de unión de p53 pueden afectar el riesgo de cáncer. Un polimorfismo específico de un solo nucleótido (SNP) en el gen KITLG aumenta significativamente la susceptibilidad al cáncer, destacando el papel crítico de p53 en la supresión tumoral.

Área de la Ciencia:

Genética La genética.
Biología del cáncer Biología del cáncer.
Biología Molecular Biología Molecular

Sus antecedentes:

La proteína supresora de tumores p53 regula la transcripción génica, haciendo que sus sitios de unión sean críticos para la prevención del cáncer.
Las variaciones hereditarias (polimorfismos) en estos sitios funcionales de unión de p53 pueden influir en la susceptibilidad de un individuo al cáncer.

Objetivo del estudio:

Para identificar y caracterizar un elemento polimórfico con respuesta p53.
Investigar la influencia de este polimorfismo en el riesgo de cáncer y la regulación génica.

Principales métodos:

Se utilizaron conjuntos de datos de todo el genoma, incluidos los loci de susceptibilidad al cáncer, la variación genética y la información de unión al p53.
Se identificó un polimorfismo de un solo nucleótido (SNP) dentro de un sitio funcional de unión de p53.
Evaluó el impacto del SNP en la regulación de la unión y transcripción p53 del gen KITLG.

Principales resultados:

Se encontró un SNP específico en un sitio de unión p53 que regula el gen KITLG.
Este SNP está asociado con un aumento sustancial en el riesgo de cáncer, identificado a través de estudios de asociación de todo el genoma.
El análisis evolutivo reveló una selección positiva para este SNP, lo que sugiere un beneficio selectivo pasado, sin embargo, SNPs similares son raros debido a la selección negativa.

Conclusiones:

Los polimorfismos dentro de los sitios de unión de p53 pueden influir significativamente en el riesgo de cáncer.
El SNP identificado en KITLG demuestra un fuerte vínculo entre la regulación de p53 y la susceptibilidad al cáncer.
Si bien algunos polimorfismos del sitio de unión a p53 pueden conferir beneficios, la mayoría son probablemente perjudiciales para la salud humana, como lo indican los patrones de selección negativa.

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