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La variación genética común en KCNH2 está asociada con la duración del intervalo QT: el Framingham Heart Study
Christopher Newton-Cheh1, Chao-Yu Guo, Martin G Larson
1National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, Mass, USA. cnewtoncheh@partners.org
Circulation
|August 22, 2007
Resumen
Las variantes comunes del gen KCNH2 están vinculadas a la duración del intervalo QT. Estos hallazgos pueden tener un impacto en la comprensión del riesgo de muerte cardíaca súbita y las arritmias inducidas por medicamentos.
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 prolongación del intervalo QT aumenta el riesgo de muerte cardíaca súbita.
- Las mutaciones en el gen KCNH2 causan el síndrome del intervalo QT largo y la prolongación del intervalo QT inducida por medicamentos.
- El canal de potasio HERG está implicado en la repolarización cardíaca.
Objetivo del estudio:
- Para investigar la asociación entre las variantes comunes de KCNH2 y la duración del intervalo QT.
- Identificar los factores genéticos que influyen en la repolarización cardíaca en una población no seleccionada.
Principales métodos:
- Genotipado de 17 polimorfismos de nucleótido único (SNP) en 1730 individuos del Estudio del Corazón de Framingham.
- Análisis de asociación de SNPs con una duración continua del intervalo QT.
- Replicación de los resultados en una muestra independiente de 871 individuos.
Principales resultados:
- rs3807375 genotipos mostraron una asociación significativa con la duración del intervalo QT tanto en hombres como en mujeres (P=0,002).
- Los individuos con los genotipos AA o AG para rs3807375 tenían intervalos QT más largos (P=0,00006).
- Se replicó una asociación previamente reportada para rs1805123 (K897T).
Conclusiones:
- Dos variantes comunes de KCNH2 están asociadas con la duración continua del intervalo QT.
- Se necesitan más estudios para explorar el impacto de estas variantes en la muerte súbita cardíaca y las arritmias inducidas por medicamentos.
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