J Genet Med.  2011 Jun;8(1):17-27. 10.5734/JGM.2011.8.1.17.

Genetics of Pre-eclampsia

  • 1Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Seoul, Korea. hmryu@yahoo.com
  • 2Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.


Pre-eclampsia is a major cause of maternal and perinatal mortality and morbidity worldwide, but remains unclear about the underlying disease mechanisms. Pre-eclampsia is currently believed to be a two-stage disease. The first stage involves shallow cytotrophoblast invasion of maternal spiral arteriole, resulting in placental insufficiency. The hypoxic placenta release soluble factors, cytokines, and trophoblastic debris into maternal circulation, which induce systemic endothelial damage and dysfunction. This cause the second stage of the disease: maternal syndrome. Epidemiological research has consistently demonstrated a familial predisposition to pre-eclampsia. Intensive research efforts have been made to discover susceptibility genes that will inform our understanding of the pathophysiology of pre-eclampsia and that may provide direction for therapeutic or preventative strategies. In this review, we summarize the current understanding of the role of genetic factors in the pathophysiology of pre-eclampsia and explain the molecular approach to search for genetic clues in pre-eclampsia.


Pre-eclampsia; Genetics; Susceptibility gene
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