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Variantes genéticas del receptor beta2-adrenérgico y riesgo de muerte súbita cardíaca
Nona Sotoodehnia1, David S Siscovick, Matteo Vatta
1Department of Medicine, University of Washington, Seattle, WA, USA. nsotoo@u.washington.edu
Circulation
|April 19, 2006
Resumen
Las variaciones genéticas en el gen del receptor beta2-adrenérgico (B2AR) están relacionadas con el riesgo de muerte súbita cardíaca (SCD, por sus siglas en inglés). Los individuos homocigotos para la variante Gln27 se enfrentan a un mayor riesgo de SCD.
Área de la Ciencia:
- Genética cardiovascular Genética cardiovascular Genética cardiovascular Genética cardiovascular Genética cardiovascular
- La farmacogenómica es la farmacogenómica.
- Cardiología Molecular Cardiología Molecular
Sus antecedentes:
- La activación del sistema nervioso simpático es un factor de riesgo conocido para las arritmias ventriculares y la muerte súbita cardíaca (SCD).
- El receptor beta2-adrenérgico (B2AR) es un mediador clave de los efectos simpáticos en el corazón.
- Las variaciones genéticas dentro del gen B2AR pueden influir en la susceptibilidad de un individuo a SCD.
Objetivo del estudio:
- Investigar la asociación entre las variaciones genéticas en el gen B2AR y el riesgo de muerte súbita cardíaca (SCD).
- Para determinar si los polimorfismos B2AR específicos (Gly16Arg y Gln27Glu) son predictivos del riesgo de ECS en diversas poblaciones.
Principales métodos:
- Estudio de cohorte prospectivo (Estudio de Salud Cardiovascular - CHS) con 4441 participantes blancos y 808 negros seguidos para la ECS.
- Genotipización para los polimorfismos B2AR Gly16Arg y Gln27Glu.
- Estudio de replicación utilizando un diseño de caso-control basado en la población (Estudio de sangre de arresto cardíaco - CABS) con 155 casos de ECS y 144 controles.
Principales resultados:
- El polimorfismo Gln27Glu en el gen B2AR se asoció significativamente con un mayor riesgo de ECS (P=0,008).
- Los individuos homocigotos de Gln27 exhibieron un riesgo 1,56 veces mayor de ECS en comparación con los portadores de Glu27 (RH, 1,56; IC del 95%, 1,17 a 2,09; P=0,003).
- El polimorfismo Gly16Arg no mostró asociación con el riesgo de ECS en ninguna de las poblaciones estudiadas.
Conclusiones:
- La homocigosidad para la variante Gln27 del gen B2AR se asocia con un riesgo elevado de muerte súbita cardíaca (SCD).
- Estos hallazgos resaltan el papel de la variación genética B2AR en la SCD humana.
- El estudio de las variaciones del gen B2AR puede ayudar a identificar a las personas con mayor riesgo de SCD.
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