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Polimorfismo C677T del gen metilenetetrahodrofolato reductasa en madres con descendencia afectada por defectos congénitos folato-sensibles
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Introducción: En el origen de los defectos congénitos influyen factores ambientales, como el déficit de consumo de ácido fólico, y factores genéticos, como los polimorfismos génicos.
Objetivos: Relacionar el polimorfismo materno C677T del gen metilenetetrahodrofolato reductasa y la aparición de defectos congénitos folato-sensibles en la descendencia.
Métodos: Se realizó un estudio observacional analítico de casos y controles poblacionales. Se incluyeron 90 madres con descendencia afectada por cinco tipos de defectos congénitos folato-sensibles entre 2013 y 2018 en la provincia de Villa Clara. Se les realizó la genotificación del polimorfismo C677T del gen metilenetetrahodrofolato reductasa.
Resultados: La frecuencia del genotipo homocigótico TT resultó de 0,14 y 0,06 en las madres de casos afectados y las del grupo control, respectivamente. Se identificó una asociación entre el polimorfismo materno y los defectos congénitos en la descendencia, en el modelo de codominancia y el modelo recesivo.
Conclusiones: La mayor frecuencia del genotipo homocigótico TT, en las madres con descendencia afectada, se relaciona con la disminución descrita para la actividad enzimática de la metilenetetrahodrofolato reductasa en este genotipo.
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Referencias
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