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El polimorfismo en el gen del receptor beta-adrenérgico y la hipertensión
K Bengtsson1, O Melander, M Orho-Melander
1Department of Endocrinology, Malmö University Hospital, Lund University, Sweden. kristina.a.bengtsson@vgregion.se
Circulation
|July 12, 2001
Resumen
Las personas con dos copias del alelo Arg389 en el gen del receptor beta-adrenérgico tienen un mayor riesgo de desarrollar hipertensión. Esta variante genética está relacionada con el aumento de la presión arterial y la frecuencia cardíaca.
Área de la Ciencia:
- La farmacogenómica es la farmacogenómica.
- Genética cardiovascular Genética cardiovascular Genética cardiovascular Genética cardiovascular Genética cardiovascular
Sus antecedentes:
- El gen del receptor beta-adrenérgico tiene variantes (Arg389 y Gly389) que influyen en la actividad del receptor.
- Estudios previos in vitro muestran que Arg389 conduce a una mayor actividad de adenilato ciclasa.
Objetivo del estudio:
- Investigar la asociación entre los polimorfismos del gen del receptor beta-adrenérgico (Arg389Gly y Ser49Gly) y la hipertensión en una población escandinava.
Principales métodos:
- Un estudio de casos y controles incluyó a 292 pacientes hipertensos y 265 controles sanos.
- Un estudio de pares de hermanos analizó 102 pares de hermanos no diabéticos discordantes para el polimorfismo Arg389Gly.
- Se compararon las frecuencias del genotipo y del alelo; se analizaron la presión arterial y la frecuencia cardíaca.
Principales resultados:
- La homocigosidad para el alelo Arg389 se asoció con un aumento de 1,9 veces en el odds ratio para la hipertensión (P=0.0005).
- Los hermanos homocigotos de Arg389 mostraron una presión arterial diastólica significativamente más alta (P=0,003) y una frecuencia cardíaca (P=0,02) en comparación con los portadores de Gly389.
- El polimorfismo de Ser49Gly no se relacionó con la hipertensión.
Conclusiones:
- El alelo Arg389 del gen del receptor beta-adrenérgico es un factor de riesgo para desarrollar hipertensión.
- Las personas homocigotas para Arg389 tienen un mayor riesgo de hipertensión.
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