Abstract

Hypertension is the most frequent medical complication occurring during pregnancy. In this chapter, we aim to address the genetic contribution to these disorders, with specific focus on pre-eclampsia. The pathogenic mechanisms underlying pre-eclampsia remain to be elucidated; however, immune maladaptation, inadequate placental development and trophoblast invasion, placental ischaemia, oxidative stress and thrombosis are all thought to represent key factors in the development of disease. Furthermore, all of these components have genetic factors that may be involved in the pathogenic changes occurring. The familial nature of pre-eclampsia has been known for many years and, as such, extensive genetic research has been carried out in this area using strategies that include candidate gene studies and linkage analysis. Interactions between fetal and maternal genotypes, the effect of environmental factors, and epistasis will also be considered.

Highlights

  • Human Genetics Research Group, School of Molecular and Medical Sciences, University of Nottingham, A Floor West Block, Queen’s Medical Centre, Nottingham NG7 2UH, UK

  • We aim to address the genetic contribution to these disorders, with specific focus on preeclampsia

  • We will be closer to identifying DNA variations that are involved in pre-eclampsia when the following takes place: sample banks are formed, and sample sizes are provided with high statistical power that allow us to identify polymorphisms with small effects to carry out further subgroup analysis

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Summary

Contents lists available at ScienceDirect

Best Practice & Research Clinical Obstetrics and Gynaecology journal homepage: www.elsevier.com/locate/bpobgyn. The pathogenic mechanisms underlying pre-eclampsia remain to be elucidated; immune maladaptation, inadequate placental development and trophoblast invasion, placental ischaemia, oxidative stress and thrombosis are all thought to represent key factors in the development of disease. All of these components have genetic factors that may be involved in the pathogenic changes occurring. The familial nature of pre-eclampsia has been known for many years and, as such, extensive genetic research has been carried out in this area using strategies that include candidate gene studies and linkage analysis. Interactions between fetal and maternal genotypes, the effect of environmental factors, and epistasis will be considered

Definition of hypertensive disorders of pregnancy
Diagnostic criteria
Candidate gene approach
Predominant polymorphism investigated
Oxidative stress and lipid metabolism
Immune system
Antioxidant enzymes
Activin A receptor type IIA
The Netherlands
Genome wide association screening
Gene interactions
The future
Conclusion
Practice points
Findings
Research agenda
Full Text
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