Unravelling the genetic landscape of cervical insufficiency: Insights into connective tissue dysfunction and hormonal pathways.
Ludmila VolozonokaLīvija BārdiņaAnna KorneteZita KrūmiņaDmitrijs RotsMeilė MinkauskienėAdele RotaZita StrelcovieneBaiba VilneInga KempaAnna MiskovaLinda GailīteDace RezebergaPublished in: PloS one (2024)
Cervical insufficiency in non-syndromic patients is not attributed to a single connective tissue gene variant in a Mendelian fashion but rather to the cumulative effect of multiple inherited gene variants highlighting the significance of the connective tissue pathway in the multifactorial nature of CI. PGR or NR3C1 variants may contribute to the pathophysiology of CI and/or preterm birth through the impaired progesterone action pathways, opening new perspectives for targeted interventions and enhanced clinical management strategies of this condition.
Keyphrases
- copy number
- preterm birth
- genome wide
- end stage renal disease
- ejection fraction
- newly diagnosed
- chronic kidney disease
- low birth weight
- gestational age
- prognostic factors
- genome wide identification
- type diabetes
- oxidative stress
- cancer therapy
- intellectual disability
- peritoneal dialysis
- single cell
- patient reported outcomes
- metabolic syndrome
- transcription factor