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Un estudio de asociación multi-cohorte en todo el genoma en individuos de ascendencia africana revela loci de riesgo

Shefali S Verma¹, Harini V Gudiseva², Venkata R M Chavali²

¹Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

|January 19, 2024

Resumen

Los estudios de asociación de todo el genoma identificaron 46 nuevos loci de riesgo para el glaucoma primario de ángulo abierto (POAG) en individuos de ascendencia africana. Una puntuación de riesgo poligénico desarrollada a partir de este estudio es más efectiva para esta población que las puntuaciones de estudios basados en Europa.

Área de la Ciencia:

La genética
Oftalmología
Salud de la población

Sus antecedentes:

El glaucoma primario de ángulo abierto (POAG) es una de las principales causas de ceguera irreversible en todo el mundo.
Las personas de ascendencia africana experimentan una carga desproporcionadamente alta de POAG.

Objetivo del estudio:

Realizar un estudio de asociación de todo el genoma (GWAS) para el POAG específicamente en individuos de ascendencia africana.
Identificar nuevos factores de riesgo genéticos y evaluar las puntuaciones de riesgo poligénico (PRS) en esta población.

Principales métodos:

Se realizó un GWAS en 11.275 individuos de ascendencia africana (6.003 casos, 5.272 controles).
Los análisis incluyeron mapeo fino, co-localización y validación in silico para identificar posibles variantes causales.
Se desarrolló un POAG PRS utilizando estadísticas de resumen de megaanálisis de individuos de ascendencia africana.

Principales resultados:

Se detectaron 46 loci de riesgo asociados con POAG con significación genómica.
Se implicaron dos nuevas variantes (rs1666698 en DBF4P2, rs34957764 en ROCK1P1) y una variante conocida (rs11824032 en ARHGEF12) como probable causa.
El PRS derivado de individuos de ascendencia africana superó a un PRS de datos GWAS de ascendencia europea.

Conclusiones:

Este estudio amplía significativamente la comprensión de la arquitectura genética POAG en individuos de ascendencia africana.
Se han identificado nuevas variantes genéticas que contribuyen al riesgo de AGPO.
Un PRS adaptado a las poblaciones de ascendencia africana demuestra un mejor poder predictivo para el riesgo de POAG.

Palabras clave:

Su ascendencia africana Negro Factores de riesgo genético Estudio de asociación de todo el genoma el glaucoma las disparidades de salud neurodegeneración Oftalmología el nervio óptico glaucoma primario de ángulo abierto

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