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Polimorfismos de alfa-adducina y sensibilidad a la sal en pacientes con hipertensión esencial
D Cusi1, C Barlassina, T Azzani
1Postgraduate School of Nephrology, University of Milan, Italy.
Lancet (London, England)
|May 10, 1997
Resumen
Una variación específica del gen alfa-adducina (Gly 460 Trp) está relacionada con la hipertensión esencial. Los individuos con esta mutación muestran una mayor sensibilidad a la sal y una mejor respuesta al tratamiento diurético.
Área de la Ciencia:
- Genética La genética.
- Nefrología Nefrología.
- Medicina Cardiovascular La medicina cardiovascular es una especialidad de la salud.
Sus antecedentes:
- Las anomalías en el transporte renal de sodio están implicadas en la hipertensión.
- Se supone que la aducina, una proteína del túbulo renal, regula el transporte de iones a través del citoesqueleto de actina.
Objetivo del estudio:
- Para investigar la asociación entre un polimorfismo del gen alfa-adducina (Gly 460 Trp) y la hipertensión esencial.
- Para evaluar el impacto de este polimorfismo en la respuesta de la presión arterial a los cambios en el equilibrio de sodio.
Principales métodos:
- Análisis de vinculación en 137 parejas de hermanos hipertensos utilizando marcadores de ADN cerca del locus alfa-adducina.
- Genotipización de 477 individuos hipertensos y 322 normotensos para el polimorfismo alfa-adducina.
- Pruebas de sensibilidad a la sal (aguda y crónica) en pacientes hipertensos con y sin el alelo 460 Trp.
Principales resultados:
- Se observó una relación significativa entre los marcadores del locus alfa-adducina y la hipertensión esencial.
- Se encontró una asociación significativa entre la mutación 460 Trp y la hipertensión (p = 0,0003).
- Los pacientes con el alelo mutante (Gly/Trp) mostraron una mayor reducción de la presión arterial en respuesta a los cambios de sodio y al tratamiento con hidroclorotiazida en comparación con los homocigotos de tipo salvaje (p = 0,001 y p = 0,002, respectivamente).
Conclusiones:
- El locus alfa-adducina está significativamente relacionado con la hipertensión esencial.
- El polimorfismo Gly 460 Trp está asociado con una forma sensible a la sal de la hipertensión esencial.
- Este polimorfismo puede ayudar a identificar a los pacientes hipertensos que se beneficiarían de la terapia diurética o las estrategias de reducción de sodio.
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