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Una asociación en todo el genoma entre el grosor foveal y la arritmia

Shin-Ya Nakao^1,2, Masahiro Miyake^3,4, Kohta Fujiwara^5,6

¹Department of Ophthalmology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

Communications medicine

|August 28, 2025

Resumen

Identificamos un nuevo gen relacionado con el grosor del foveo y la arritmia. Las personas con contracción auricular/ventricular prematura pueden beneficiarse de evaluaciones oculares.

Área de la Ciencia:

Oftalmología
La genética
Cardiología

Sus antecedentes:

La fóvea, una parte crítica del sistema visual, posee una estructura única.
La identificación de factores genéticos que influyen en el grosor del foveo es esencial para comprender la salud visual.

Objetivo del estudio:

Identificar los polimorfismos de nucleótido único (SNP) asociados con el grosor foveal en una gran población japonesa.
Explorar posibles vínculos entre los genes de grosor foveal y otras condiciones de salud.

Principales métodos:

Estudio de asociación de todo el genoma (GWAS) y replicación en más de 10.000 individuos.
Estudio de asociación en todo el fenómeno (PheWAS) utilizando datos de Biobank Japan.
Evaluación de las asociaciones fenotípicas dentro de la cohorte del estudio Nagahama.

Principales resultados:

Se encontró una asociación significativa en todo el genoma para rs4903064 en el gen DPF3 con grosor foveal (P = 2,93 × 10−13).
El SNP identificado también se asoció significativamente con la arritmia (P=2,50×10−5).
Una fóvea más gruesa se correlacionó con un riesgo reducido de contracción auricular/ventricular prematura (P=0,022).

Conclusiones:

Se ha identificado un nuevo gen que predispone al grosor foveal, también relacionado con la arritmia.
La evaluación oftalmológica puede ser aconsejable para las personas que experimentan contracciones auriculares/ventriculares prematuras.

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