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VOLUME 96 , ISSUE 4S ( July-August, 2022 ) > List of Articles

ARTÍCULO ORIGINAL

Relacion entre los polimorfismos funcionales de nucleotido unico del TGF-β1 y el glaucoma primario de angulo abierto en una poblacion mexicana

Francisco J. Santa Cruz-Pavlovich, Tomer Ori-Guy, Brenda A. García-Loza, Miguel A. Carvajal-Quinonez, Diego Navarro-Arregui, Beatriz Alvarado-Castillo, Jose Navarro-Partida

Keywords : Glaucoma primario de ángulo abierto, Factor de crecimiento transformante beta 1, Polimorfismo de nucleótido único, Polimorfismo funcional

Citation Information : Cruz-Pavlovich FJ, Ori-Guy T, García-Loza BA, Carvajal-Quinonez MA, Navarro-Arregui D, Alvarado-Castillo B, Navarro-Partida J. Relacion entre los polimorfismos funcionales de nucleotido unico del TGF-β1 y el glaucoma primario de angulo abierto en una poblacion mexicana. 2022; 96 (4S):147-154.

DOI: 10.24875/RMO.M22000240

License: CC BY-NC-ND 4.0

Published Online: 23-12-2022

Copyright Statement:  Copyright © 2022 Sociedad Mexicana de Oftalmología. Publicado por Permanyer.


Abstract

Objetivo: La asociacion entre el factor de crecimiento transformante beta 1 (TGF-β1) y el glaucoma primario de angulo abierto (GPAA) ha sido poco estudiada. El objetivo de este estudio fue buscar una asociacion entre polimorfismos de nucleotido unico (PNU) del gen del TGF-β1, −509C/T (rs1800469), −800G/A (rs1800468) y +915G/C (rs1800471) con el GPAA en una poblacion mexicana. Metodo: Los PNU fueron genotipados usando la prueba de reaccion en cadena de la polimerasa en tiempo real. Se utilizaron las pruebas de χ2 y analisis de regresion logistica para buscar asociaciones entre las frecuencias alelicas, genotipicas, haplotipicas y en base a modelos (dominante, recesivo, codominante y sobredominante) y el GPAA. Resultados: Se incluyeron 237 sujetos, de los cuales 135 eran pacientes diagnosticados de GPAA y 102 controles. El alelo menor del PNU −800G/A aumento significativamente el riesgo de GPAA (odds ratio [OR]: 3.38; intervalo de confianza [IC]: 1.46-8.23; p = 0.0051). Asimismo, en el analisis basado en modelos, el codominante (OR: 3,29; IC: 1,18-9,14; p = 0.018), el dominante (OR: 3.46; IC: 1.36-8.82; p = 0.0046) y el sobredominante (OR: 3.18; IC: 1.14-8.82; p = 0.016) mostraron un riesgo aumentado de GPAA con los genotipos GA, GA-AA y GA, respectivamente. Por otro lado, el PNU −509C/T otorgo proteccion en el modelo sobredominante (OR: 0.55; IC: 0.32-0.94; p = 0.028) con el genotipo CT. El analisis de haplotipos demostro que portar el alelo C del −509C/T, el alelo A del −800G/A y el alelo C del +915G/C aumento el riesgo de padecer GPAA (OR: 2.74; IC: 1.20-6.25; p = 0.018). Conclusiones: El PNU asociado a la infraexpresion (−800G/A) del TGF-β1 se asocio a riesgo de GPAA, mientras que el PNU asociado a la sobreexpresion (−509C/T) se asocio a la proteccion. Estos resultados podrian sugerir nuevos planteamientos en el funcionamiento del microambiente de la malla trabecular


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