ANÁLISIS DE VARIANTES IDENTIFICADAS EN GWAS ASOCIADAS AL RIESGO DE LA ENFERMEDAD DE ALZHEIMER EN LOS GENES CASS4, TREM2, CD2AP Y MS4A4E
Resumen
Comprender los aspectos genéticos y bioquímicos de enfermedades complejas, como la enfermedad de Alzheimer (EA), es fundamental para el desarrollo de nuevos tratamientos. Los estudios de asociación del genoma completo (GWAS) identifican factores genéticos de riesgo, pero la validación de estas variantes es necesaria para confirmar su papel en la susceptibilidad a la enfermedad. Este estudio observacional analítico de asociación genética de tipo caso-control incluyó a 221 participantes no emparentados, compuestos por 82 pacientes con enfermedad de Alzheimer de inicio tardío (EAIT) y 139 adultos mayores sin demencia. Se analizaron cuatro variantes identificadas por GWAS asociadas con la EAIT: rs911159 en CASS4, rs75932628 en TREM2, rs9349407 en CD2AP y rs670139 en MS4A4E, utilizando PCR en tiempo real y PCR-RFLP.. La regresión logística mostró una asociación entre rs911159 en CASS4 y la EAIT (OR = 0,187; IC del 95%: 0,059–0,59; p = 0,005), lo que sugiere un efecto protector en nuestra muestra. Sin embargo, no se observó asociación para rs9349407 en CD2AP ni para rs670139 en MS4A4E. La variante rs75932628-T no fue detectada en nuestra muestra. Estos hallazgos contribuyen a la comprensión de la base genética de la EAIT en una población brasileña mestiza. No obstante, los resultados deben interpretarse con cautela debido al tamaño muestral limitado, y se necesitan estudios futuros con cohortes más grandes para confirmar estas asociaciones.
Biografía del autor/a
Centro de Genética Humana y Molecular, Departamento de Ciencias Biológicas, Centro de Ciencias Humanas y Naturales, Universidad Federal de Espírito Santo (UFES), Vitória, ES, Brasil.
Centro de Genética Humana y Molecular, Departamento de Ciencias Biológicas, Centro de Ciencias Humanas y Naturales, Universidad Federal de Espírito Santo (UFES), Vitória, ES, Brasil; Programa de Posgrado en Biotecnología, Universidad Federal de Espírito Santo (UFES), Vitória, ES, Brasil.
Departamento de Neurociencias Dominick P. Purpura, Centro Rose F. Kennedy, Facultad de Medicina Albert Einstein, 1410 Pelham Parkway South, Bronx, NY, 10461, Estados Unidos.
Programa de Posgrado en Biotecnología, Universidad Federal de Espírito Santo (UFES), Vitória, ES, Brasil.
Escuela Superior de Ciencias de la Santa Casa de Misericordia de Vitória (EMESCAM), Vitória, ES, Brasil.
Centro de Genética Humana y Molecular, Departamento de Ciencias Biológicas, Centro de Ciencias Humanas y Naturales, Universidad Federal de Espírito Santo (UFES), Vitória, ES, Brasil.
Centro de Genética Humana y Molecular, Departamento de Ciencias Biológicas, Centro de Ciencias Humanas y Naturales, Universidad Federal de Espírito Santo (UFES), Vitória, ES, Brasil.
Escuela Superior de Ciencias de la Santa Casa de Misericordia de Vitória (EMESCAM), Vitória, ES, Brasil; Hospital Santa Casa de Misericordia de Vitória, Escuela Superior de Ciencias de la Santa Casa de Misericordia de Vitória (EMESCAM), Vitória, ES, Brasil.
Escuela Superior de Ciencias de la Santa Casa de Misericordia de Vitória (EMESCAM), Vitória, ES, Brasil.
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