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Estudio de asociación de todo el epigenoma identifica el patrón genético cardíaco y una nueva clase de biomarcadores

Benjamin Meder¹, Jan Haas¹, Farbod Sedaghat-Hamedani¹

¹From Department of Internal Medicine III, Institute for Cardiomyopathies, University of Heidelberg, Germany (B.M., J.H., F.S.-H., E.K., K.F., A.L., R.N., C.S., S.M., D.M.-B., A.A., H.H., D.B.H., M.M.-H., T.W., H.A.K.); Siemens Healthcare GmbH, Strategy and Innovation, Erlangen, Germany (C.D., M.W., A.E.P.); Department of Bioinformatics, University of Saarland, Saarbrücken, Germany (A.K.); German Centre for Cardiovascular Research, Berlin, Germany (B.M., J.H., F.S.-H., E.K., K.F., A.L., D.S., M.M.-H., T.W., J.B., H.A.K.); Institute for Molecular Cardiology and Epigenetics, University of Heidelberg, Germany (D.S., J.B.); Funktionelle Genomanalyse, Deutsches Krebsforschungszentrum, Heidelberg, Germany (A.B.); Department of Cardiac Surgery, University of Heidelberg, Germany (A.R.); Siemens AG, Corporate Technology, Vienna, Austria (D.P.); Section for Clinical Biometrics, Center for Medical Statistics, Informatics, and Intelligent Systems, Medical University of Vienna, Austria (D.P.); and Division of Epigenomics and Cancer Risk Factors, Deutsches Krebsforschungszentrum, Heidelberg, Germany (D.W., C.P.).

|August 26, 2017

Resumen

Este estudio identificó nuevos biomarcadores epigenéticos para la insuficiencia cardíaca mediante el análisis de la metilación del ADN y la expresión génica en pacientes con miocardiopatía dilatada. Estos hallazgos resaltan la regulación epigenética

Área de la Ciencia:

Genómica y epigenética
Investigación cardiovascular
Biología molecular

Sus antecedentes:

La metilación del ADN es un regulador clave que vincula los genes, el medio ambiente y la expresión génica.
La miocardiopatía dilatada y la insuficiencia cardíaca implican vías biológicas complejas.
La comprensión de los factores epigenéticos es crucial para identificar los mecanismos y biomarcadores de la enfermedad.

Objetivo del estudio:

Identificar regiones de susceptibilidad epigenética y nuevos biomarcadores para la disfunción miocárdica y la insuficiencia cardíaca.
Realizar el primer estudio multiómico en tejido y sangre miocárdica en pacientes con miocardiopatía dilatada.
Para explorar el papel de la metilación del ADN en la patogénesis de la insuficiencia cardíaca.

Principales métodos:

Mapeo de la metilación del ADN en todo el epigenoma utilizando la matriz Infinium Human Methylation 450.
Secuenciación profunda de ARN para el análisis de la expresión génica en paralelo.
Secuenciación de todo el genoma para excluir llamadas de metilación impulsadas por genotipo.

Principales resultados:

Se identificaron 59 loci epigenéticos significativamente asociados con cardiomiopatía dilatada, de los cuales 3 alcanzaron la significación en todo el epigenoma.
Replicó 27 loci en cohortes independientes, confirmando el papel de la regulación epigenética.
Se relacionaron 517 loci epigenéticos con miocardiopatía dilatada y expresión génica cardíaca, identificando patrones de metilación conservados como posibles biomarcadores de insuficiencia cardíaca.

Conclusiones:

Este es el primer estudio de asociación de todo el epigenoma en pacientes con insuficiencia cardíaca vivos utilizando un enfoque multi-ómico.
Los distintos patrones de metilación epigenética conservados en los tejidos sirven como nuevos biomarcadores para la insuficiencia cardíaca.
Las modificaciones epigenéticas juegan un papel importante en el desarrollo y la progresión de la insuficiencia cardíaca.

Palabras clave:

Metilación del ADN el biomarcador cardiomiopatía dilatada La epigenética insuficiencia cardíaca Peptídeos natriuréticos y sus derivados

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