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Análisis entre poblaciones de las puntuaciones de riesgo poligénico del síndrome de Sjögren y la prevalencia de la

Elisabetta Ferrara¹, Alessandro D'Albenzio², Biagio Rapone³

¹Department of Human Sciences, Law, and Economics, Telematic University "Leonardo Da Vinci", UNIDAV, Torrevecchia Teatina, 66100 Chieti, Italy.

|August 28, 2025

Resumen

Las puntuaciones de riesgo poligénico (PRS) para el síndrome de Sjögren no se correlacionaron con la prevalencia de la enfermedad en cinco poblaciones europeas. Se necesita más investigación para comprender la interacción de los factores genéticos y ambientales en el riesgo de enfermedades autoinmunes.

Área de la Ciencia:

La genética
Epidemiología
Enfermedades autoinmunes

Sus antecedentes:

Las puntuaciones de riesgo poligénico (PRS) muestran potencial para la estratificación del riesgo de enfermedad.
La generalización de la PRS en diversas poblaciones, especialmente para las enfermedades autoinmunes influenciadas por factores ambientales, requiere una mayor investigación.

Objetivo del estudio:

Evaluar la puntuación de riesgo poligénico (PRS) a nivel de población para el síndrome de Sjögren en cinco poblaciones europeas.
Investigar la correlación entre el PRS y la prevalencia del síndrome de Sjögren en estas poblaciones.

Principales métodos:

PRS calculado a nivel de población para el síndrome de Sjögren utilizando siete variantes genéticas validadas (PGS001308).
Se utilizaron datos de frecuencia alélica del Proyecto 1000 Genomas Fase 3 para poblaciones europeas (CEU, TSI, FIN, GBR, IBS).
Valores correlacionados de PRS con estimaciones de prevalencia publicadas utilizando los análisis de correlación y sensibilidad de Pearson.

Principales resultados:

Las puntuaciones de riesgo poligénico variaron entre las poblaciones europeas, de 0.317 (España) a 0.370 (Europa del Norte).
Se observó una tendencia negativa no significativa entre la PRS de la población y la prevalencia del síndrome de Sjögren (r = -0,407).
Italia tuvo el PRS más bajo pero la prevalencia más alta, mientras que las poblaciones del norte de Europa mostraron un PRS más alto pero una prevalencia más baja.

Conclusiones:

No se encontró una correlación significativa entre las puntuaciones de riesgo poligénico y la prevalencia del síndrome de Sjögren en las poblaciones europeas estudiadas.
Los hallazgos sugieren que el riesgo genético por sí solo puede no explicar completamente las variaciones en la prevalencia de la enfermedad.
Se necesitan estudios más grandes y diversos para aclarar la compleja relación entre el riesgo poligénico y la prevalencia de enfermedades autoinmunes.

Palabras clave:

Síndrome de Sjögren Enfermedad autoinmune Interacción entre genes y medio ambiente puntuación de riesgo poligénico genética de poblaciones

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