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Aproximación genómica a gran escala para la identificación de nuevos marcadores moleculares de preeclampsia
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- Publication Year :
- 2019
- Publisher :
- Universidad del Rosario, 2019.
-
Abstract
- A pesar de que la preeclampsia (PE) es una de las principales causas de morbimortalidad materna y fetal, su etiología es desconocida. Con el objetivo de determinar nuevos genes y mutaciones potencialmente etiológicos de la enfermedad, en el presente trabajo efectuamos la secuenciación simultánea de 386 genes, a partir de ADN placentario, en 60 mujeres afectadas por PE y restricción de crecimiento intrauterino (RCIU). Computacionalmente, utilizamos rigurosos filtros de selección de variantes. Identificamos 21 variantes (21 genes), entre las cuales 14 fueron confirmadas por medio de secuenciación de Sanger (AGT, ERAP1, F5, FOS, HTRA3, KDR, LIPC, MAN1C1, PDGFRA, SIAE, TET2, TGFB2, TGFB3, VCAN). Aquellos genes con variantes que participan en procesos biológicos como coagulación, modulación de la función inmunológica y angiogénesis llamaron especialmente la atención por su íntima relación con el desarrollo y función placentaria. Los resultados obtenidos son innovadores y sugieren una etiología poligénica de la PE. En el futuro, para una mejor comprensión de los resultados en el marco de la función placentaria, son imperativos estudios adicionales in vitro e in vivo.
Details
- Language :
- Spanish; Castilian
- Database :
- OpenAIRE
- Journal :
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