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Marcadores de susceptibilidad independientes para la fibrilación auricular en el cromosoma 4q2525

Steven A Lubitz¹, Moritz F Sinner, Kathryn L Lunetta

¹Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, MA 02114, USA.

|August 25, 2010

Resumen

Las variantes genéticas en el cromosoma 4q25 están vinculadas a la fibrilación auricular (FA). Este estudio encontró dos nuevas señales de susceptibilidad a la FA en este locus, mejorando la predicción del riesgo.

Área de la Ciencia:

Genética La genética.
Enfermedades cardiovasculares Enfermedades cardiovasculares Enfermedades cardiovasculares Enfermedades cardiovasculares Enfermedades cardiovasculares Enfermedades cardiovasculares Enfermedades cardiovasculares Enfermedades cardiovasculares

Sus antecedentes:

Las variantes genéticas en el cromosoma 4q25 son factores de riesgo conocidos para la fibrilación auricular (FA).
Investigaciones anteriores sugirieron la posibilidad de múltiples señales de susceptibilidad en este locus.

Objetivo del estudio:

Investigar si existe más de una señal de susceptibilidad en el locus 4q25 para la fibrilación auricular.
Para identificar nuevos marcadores genéticos asociados con el riesgo de FA.

Principales métodos:

Genotipado 34 polimorfismos de un solo nucleótido (SNPs) en 4q25 en una cohorte de descubrimiento.
Los hallazgos replicados en grandes cohortes independientes, incluido el metanálisis.
Construyó una puntuación de riesgo multimarker utilizando SNPs que etiquetan señales AF distintas.

Principales resultados:

El conocido SNP rs2200733 mostró una fuerte asociación con AF.
Se identificaron dos nuevas señales de susceptibilidad a la FA, marcadas por rs17570669 y rs3853445, después de ajustar por rs2200733.
Un número creciente de alelos de riesgo en estas tres señales se correlacionó con un mayor riesgo de FA.

Conclusiones:

Identificaron dos nuevas señales de susceptibilidad a la fibrilación auricular en el cromosoma 4q25.
Múltiples señales en 4q25 mejoran la identificación de individuos con mayor riesgo de FA.
Estas señales pueden identificar elementos reguladores cruciales para la patogénesis de la FA.

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