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Potenciales genes patógenos relacionados con el ritmo circadiano en la enfermedad arterial coronaria: un estudio de

Hongliang Zhang¹, Zhenyan Zhao¹, Wence Shi¹

¹Coronary Heart Disease Center, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, National Center for Cardiovascular Diseases, Beilishi Road 167, Xicheng District, Beijing 100037, China.

Postgraduate medical journal

|August 20, 2025

Resumen

Los genes del ritmo circadiano RASD1 y SREBF1 están causalmente relacionados con la patogénesis de la enfermedad arterial coronaria (CAD). Este estudio de aleatorización mendeliana destaca su potencial como objetivos terapéuticos para la prevención y el tratamiento de la EAC.

Área de la Ciencia:

La genética
Enfermedades cardiovasculares
Cronología

Sus antecedentes:

La enfermedad de las arterias coronarias (CAD, por sus siglas en inglés) es un grave problema de salud mundial.
Las alteraciones del ritmo circadiano están cada vez más relacionadas con el desarrollo de la EAC.
Los mecanismos genéticos precisos que subyacen a esta asociación requieren una mayor aclaración.

Objetivo del estudio:

Investigar las funciones causales de los genes del ritmo circadiano en la enfermedad arterial coronaria (CAD).
Explorar las implicaciones clínicas de estas asociaciones genéticas.
Para identificar posibles objetivos terapéuticos para la EAC.

Principales métodos:

Se empleó la aleatorización mendeliana basada en datos de resumen.
Los datos del estudio de asociación de todo el genoma (GWAS) para CAD se integraron con la información del gen del ritmo circadiano.
Para la inferencia causal se utilizaron los datos de los loci de rasgos cuantitativos de expresión (eQTL), los de los loci de rasgos cuantitativos de metilación (mQTL) y los de los loci de rasgos cuantitativos de abundancia de proteínas (pQTL).
El análisis de colocalización confirmó los orígenes de las variantes genéticas.

Principales resultados:

Se encontró que trece sitios de metilación y ocho genes clave del ritmo circadiano estaban asociados causalmente con CAD.
RASD1 y SREBF1 surgieron como genes particularmente significativos.
Se identificaron relaciones epigenéticas específicas (metilación cg20122488) y de regulación transcripcional con el riesgo de CAD para RASD1 y SREBF1, respectivamente.

Conclusiones:

Los genes del ritmo circadiano, especialmente RASD1 y SREBF1, juegan un papel importante en la patogénesis de la EAC.
Estos genes representan objetivos terapéuticos prometedores para nuevas estrategias de prevención y tratamiento de la EAC.
Se necesitan más investigaciones para validar estos hallazgos y desarrollar intervenciones basadas en el ritmo circadiano.

Palabras clave:

La aleatorización mendeliana Los ritmos circadianos colocalización Enfermedad arterial coronaria multiómica

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