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Minerva Ginecologica 2018 August;70(4):465-79

DOI: 10.23736/S0026-4784.17.04150-8


language: English

An update on the genetics of pre-eclampsia

Andee AGIUS 1 , Roberta SULTANA 2, Christian CAMENZULI 3, Jean CALLEJA-AGIUS 4, Rena BALZAN 1

1 Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta; 2 Department of Occupational Therapy, Saint Vincent de Paul Long-Term Care Facility, Luqa, Malta; 3 Department of Surgery, Faculty of Medicine and Surgery, University of Malta, Tal-Qroqq, Malta; 4 Department of Anatomy, Faculty of Medicine and Surgery, University of Malta, Msida, Malta


Pre-eclampsia is a progressive multisystem disorder that is exclusive to human pregnancy and defined as new hypertension presenting after 20 weeks with significant proteinuria. It is a multifactorial condition with a strong genetic component and several genes have been linked with this disorder. The main players implicated in the pathogenesis of pre-eclampsia include immune maladaptation, hemodynamics, endothelial function, thrombophilic disorders, oxidative stress and lipid metabolism. All of these mechanisms encompass genetic factors that might be responsible for the pathogenic changes taking place. Pre-eclampsia has been referred to as a primipaternity disease. A number of studies examined the contribution of paternal genes in pre-eclampsia. Although there is evidence that paternal genes significantly increase the risk of pre-eclampsia, there is still inconclusive evidence whether having the same partner is a protective factor. Gene expression, through imprinting and epistasis, also play an important role in the pathogenesis of this disorder. Pre-eclampsia remains a disease of theories. Despite the growing body of research exploring this complex disorder, the etiology of pre-eclampsia remains elusive and the struggle is still ongoing to find an effective predictive test that can detect this disorder at an early stage where intervention can prevent the progression of the disorder. Research is still ongoing. Prevention and early detection of pre-eclampsia remain the ultimate goal.

KEY WORDS: Pre-eclampsia - Pregnancy - Multifactorial inheritance - Hypertension - Proteinuria

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