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2022, Número 2

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Rev Cuba Endoc 2022; 33 (2)


Avances en la genética del síndrome de ovario poliquístico

Ovies CG, Monteagudo PG, Gómez AM

Idioma: Español
Referencias bibliográficas: 40
Paginas:
Archivo PDF: 283.42 Kb.


RESUMEN

Introducción: Los primeros estudios realizados en familiares de mujeres con síndrome de ovario poliquístico demostraron un patrón de agregación familiar y por tanto, la posibilidad de un componente genético en su etiopatogenia. Desde entonces, mucho se ha investigado al respecto.
Objetivo: Realizar una actualización en las evidencias según la literatura de las bases genéticas del síndrome de ovario poliquístico.
Métodos: Se realizó una revisión bibliográfica de los últimos 10 años sobre aspectos de genética en el síndrome de ovario poliquístico en las bases Pubmed, Google Académico, EMBASE y MEDLINE.
Conclusiones: Se demostró que en este periodo se ha avanzado en el esclarecimiento y participación de múltiples genes y loci en la patogenia del síndrome. Existe una asociación importante en diferentes poblaciones y etnias del gen DENND1A y TADHA, los cuales se localizan en los cromosomas 9 y 2, respectivamente. Además, se han realizado estudios de asociación del genoma completo (GWAS) que han identificado otros genes en cromosomas como 9q22.32, 11q22.1, 12q13.2, 19p13.3, 16 q12.1, 20q13.2, 12q14.3 (C9orf3, YAP1, RAB5B, INSR, TOX3, SUMO1P1 y HMGA2). Esta revisión permite una actualización del tema y ampliar el conocimiento sobre aspectos relacionados con el origen genético del SOP, así como concluir que el SOP tiene un origen poligénico y es de las denominadas enfermedades complejas.


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