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Grandes y raras deleciones cromosómicas asociadas con obesidad severa de inicio temprano
Elena G Bochukova1, Ni Huang, Julia Keogh
1University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.
Nature
|December 8, 2009
Resumen
Las variaciones en el número de copias, específicamente grandes deleciones, están significativamente relacionadas con la obesidad severa. Estos cambios genéticos, particularmente en el cromosoma 16p11.2, están asociados con la hiperfagia y la resistencia a la insulina en los pacientes.
Área de la Ciencia:
- Genética La genética.
- Fisiología Humana Fisiología Humana.
- Investigación médica Investigación médica.
Sus antecedentes:
- La obesidad es un trastorno complejo y altamente hereditario con una heterogeneidad genética significativa.
- Comprender los fundamentos genéticos de la obesidad severa de aparición temprana es crucial para desarrollar intervenciones específicas.
Objetivo del estudio:
- Investigar la contribución de las variaciones del número de copias (CNV) a la base genética de la obesidad severa de inicio temprano.
- Identificar VNCs raras específicas asociadas con obesidad severa, particularmente en pacientes con retraso en el desarrollo.
Principales métodos:
- Análisis comparativo de grandes (>500 kb), raras (<1%) deleciones en 300 pacientes caucásicos con obesidad severa de inicio temprano y 7.366 controles.
- Identificación y validación de la VNC recurrente en una cohorte independiente de 1.062 pacientes con obesidad severa.
- Análisis genético de las deleciones del cromosoma 16p11.2 y los genes asociados, incluyendo SH2B1.1.
Principales resultados:
- Las deleciones grandes y raras se enriquecieron significativamente en pacientes con obesidad severa en comparación con los controles (P < 0,001).
- Se identificaron deleciones recurrentes en el cromosoma 16p11.2 en pacientes, con cinco casos que albergaban deleciones superpuestas.
- Los portadores de deleción exhibieron hiperfagia y resistencia severa a la insulina, independientemente de la gravedad de la obesidad, implicando genes como SH2B1 en la desregulación metabólica.
Conclusiones:
- La variación del número de copias juega un papel importante en la arquitectura genética de la obesidad humana.
- CNV específicos, como los del cromosoma 16p11.2, están relacionados con la obesidad severa y los fenotipos metabólicos asociados.
- Los hallazgos destacan la importancia de los factores genéticos en la obesidad severa y sugieren posibles objetivos terapéuticos.
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