Molecular Genetics of Preeclampsia


Preeclampsia can occur during pregnancy affecting the health of both the mother and her baby during pregnancy. Preeclampsia is known to have a placental origin; however, the pathogenic changes which lead to the development of systemic endothelial dysfunction characteristic of the disorder remain to be determined. The key factors with an underlying genetic component, which are accepted as being important in the development of preeclampsia, include immune maladaptation, inadequate placentation, oxidative stress and thrombosis. For many years, it has been known that preeclampsia has a genetic component, and as such extensive genetic research has been carried out in this area using strategies including candidate gene studies and linkage analysis. Elucidating the exact genetic contribution to this disorder still remains a challenge owing to the complication of interactions between foetal and maternal genotypes, the environment and epistasis.

Key Concepts

  • The placenta is key to the development of preeclampsia.
  • Inadequate trophoblast invasion is one of the primary stages involved in the pathogenesis of the severe early onset form of preeclampsia.
  • Systemic endothelial dysfunction underlies the development of hypertension characteristic of preeclampsia.
  • Understanding the genetic contribution to preeclampsia is complicated owing to the interaction between maternal and foetal genotypes.
  • STOX1 and ACVR2A have been identified as potential positional candidate genes in preeclampsia.

Keywords: preeclampsia; placenta; trophoblast; genetics; pregnancy

Figure 1. Diagrammatic representation of the invasion of extravillous cytotrophoblast cells into the maternal uterine wall.


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Further Reading

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Yong HE, Melton PE, Johnson MP, et al. (2015) Genome‐wide transcriptome directed pathway analysis of maternal pre‐eclampsia susceptibility genes. PLoS One 10 (5): e0128230.

Zhou Y and Wu Q (2014) Corin in natriuretic peptide processing and hypertension. Current Hypertension Reports 16 (2): 415.

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Williams, Paula J(Jan 2016) Molecular Genetics of Preeclampsia. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0025247]