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Una nueva forma de obesidad altamente penetrante debido a las deleciones en el cromosoma 16p11.2
R G Walters1, S Jacquemont, A Valsesia
1Section of Genomic Medicine, Imperial College London, London W12 0NN, UK.
Nature
|February 5, 2010
Resumen
Las deleciones genéticas raras en 16p11.2 están fuertemente vinculadas a la obesidad severa, desafiando las teorías de la variante común. El estudio de casos de obesidad extrema ayuda a descubrir factores genéticos raros que contribuyen a la heredabilidad.
Área de la Ciencia:
- Genética La genética.
- Salud Pública La salud pública.
- Investigación de la obesidad.
Sus antecedentes:
- La obesidad es un problema de salud global influenciado por el medio ambiente y la genética.
- Los estudios de asociación de todo el genoma (GWAS) identificaron muchos polimorfismos de un solo nucleótido relacionados con la obesidad, pero explican poca heredabilidad.
- La hipótesis de "enfermedad común, variante común" se cuestiona cada vez más.
Objetivo del estudio:
- Para investigar el papel de las variantes genéticas raras en la obesidad severa.
- Identificar los factores genéticos que contribuyen a la "heredabilidad perdida" de la obesidad.
- Explorar la utilidad del estudio de fenotipos extremos para el descubrimiento genético.
Principales métodos:
- Análisis de las deleciones 16p11.2 en 31 sujetos con obesidad y déficits cognitivos.
- Identificación de 19 eliminaciones similares en los datos GWAS de 16.053 personas europeas.
- Comparación de las frecuencias de eliminación entre los casos de obesidad mórbida y los controles sanos.
Principales resultados:
- Las deleciones heterocigotas en 16p11.2 se encontraron en el 0,7% de los casos de obesidad mórbida (OR=43.0, P=6.4x10^-8).
- Estas deleciones estaban ausentes en controles sanos no obesos.
- Las variantes raras con fuertes efectos son importantes en enfermedades comunes como la obesidad.
Conclusiones:
- Las variantes raras, como las deleciones 16p11.2, contribuyen significativamente a la heredabilidad de la obesidad.
- El estudio de cohortes con fenotipos extremos es una estrategia poderosa para descubrir variantes raras.
- La combinación de estudios de fenotipos extremos con cohortes de población puede revelar más contribuciones genéticas a rasgos complejos.
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