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Arquitectura genética del aneurisma de la aorta abdominal en el programa del millón de veteranos
Derek Klarin1,2,3,4, Shefali Setia Verma5, Renae Judy6,7
1Malcolm Randall VA Medical Center, Gainesville, FL (D.K., S.T.S., S.A.B.).
Circulation
|September 28, 2020
Resumen
Este estudio identificó 14 nuevos factores de riesgo genéticos para el aneurisma aórtico abdominal (AAA), revelando la presión arterial diastólica como un factor causal. Una puntuación de riesgo poligénico ayuda a identificar a las personas con alto riesgo genético de AAA.
Área de la Ciencia:
- La genética
- Enfermedades cardiovasculares
- Epidemiología
Sus antecedentes:
- El aneurisma aórtico abdominal (AAA) es una causa significativa de mortalidad cardiovascular.
- Los factores genéticos que contribuyen a la AAA no se comprenden completamente, con solo 10 loci de riesgo conocidos que explican una pequeña parte de su heredabilidad.
Objetivo del estudio:
- Identificar nuevos determinantes genéticos del aneurisma aórtico abdominal (AAA) a través de un estudio de asociación a gran escala en todo el genoma.
- Investigar el papel causal de la presión arterial en el desarrollo de AAA utilizando la aleatorización mendeliana.
- Desarrollar y validar una puntuación de riesgo poligénico (PRS) para identificar a las personas con un riesgo genético elevado de AAA.
Principales métodos:
- Se realizó un estudio de asociación de todo el genoma (GWAS) en el Programa de Millones de Veteranos (MVP) con aproximadamente 18 millones de variantes de secuencias de ADN.
- Realizó replicación independiente en cohortes adicionales.
- Se utilizó la aleatorización mendeliana para evaluar el efecto causal de la presión arterial diastólica y sistólica sobre el riesgo de AAA.
- Se examinó la asociación de las variantes de riesgo de AAA con otros aneurismas vasculares y se obtuvo una puntuación de riesgo poligénico de 29 variantes (PRS).
Principales resultados:
- Identificaron 14 nuevos loci genéticos asociados con AAA, lo que eleva el total a 24.
- Se demostró una relación causal entre el aumento genético de la presión arterial diastólica y el desarrollo de AAA (OR=1,43, P=1,6×10−6).
- Un PRS de 29 variantes predijo fuertemente el riesgo de AAA (OR=1,26, P=2,7×10−11), independientemente de los antecedentes familiares y el tabaquismo.
Conclusiones:
- Las nuevas asociaciones genéticas para el AAA tienen implicaciones terapéuticas.
- Un PRS identifica efectivamente a las personas con un riesgo genético significativamente mayor de AAA, independientemente de los antecedentes familiares.
- La integración del PRS en las directrices de cribado podría mejorar la detección temprana y la rentabilidad.
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