Rare genetic variants suggest dysregulation of signaling pathways in low- and high-risk patients developing severe ovarian hyperstimulation syndrome.
Line Gutte BorgwardtK W OlsenM RossingR Borup Helweg-LarsenM ToftagerA PinborgJ BogstadK LøsslA ZedelerM L GrøndahlPublished in: Journal of assisted reproduction and genetics (2020)
Rare variants in OHSS cases with two distinct risk profiles enrich the same signaling pathways linked to VEGF and endothelial function. Clarification of the mechanism as well as potentially defining genetic predisposition of the high vascular permeability is important for future targeted treatment and prevention of OHSS; the potential roles of ILK signaling and the axonal guidance signaling need to be validated by functional studies.
Keyphrases
- signaling pathway
- end stage renal disease
- endothelial cells
- ejection fraction
- newly diagnosed
- copy number
- spinal cord injury
- peritoneal dialysis
- prognostic factors
- early onset
- epithelial mesenchymal transition
- genome wide
- vascular endothelial growth factor
- gene expression
- case report
- drug delivery
- climate change
- smoking cessation