(Epi)genetics of pregnancy-associated diseases
Marie van Dijk1, Cees Oudejans
1Molecular Biology Laboratory, Department of Clinical Chemistry, VU University Medical Center Amsterdam, Netherlands ; Institute for Cardiovascular Research VU, VU University Medical Center Amsterdam, Netherlands.
Frontiers in Genetics
|September 24, 2013
Summary
This review explores the genetics and epigenetics of pregnancy-associated diseases, highlighting genes linked to pre-eclampsia and HELLP syndrome. It emphasizes the role of epigenetics and suggests strategies for future research and biomarker development.
Area of Science:
- Reproductive biology and genetics
- Perinatal medicine
- Epigenetics and disease mechanisms
Background:
- Pregnancy-associated diseases with placental origin present complex genetic and epigenetic challenges.
- Fetal genotype influencing maternal phenotype complicates genetic linkage analyses.
- Understanding these factors is crucial for improving maternal and fetal health outcomes.
Purpose of the Study:
- To review current knowledge on the genetics and epigenetics of pregnancy-associated diseases originating from the placenta.
- To discuss identified genes and their potential roles in diseases like pre-eclampsia and HELLP syndrome.
- To explore the impact of epigenetics on disease inheritance and propose future research directions.
Main Methods:
- Review of existing literature on genetic linkage and candidate gene studies.
- Analysis of genome-wide linkage studies identifying genes such as ACVR2A, STOX1, and LINC-HELLP.
- Examination of epigenetic mechanisms, including evidence from mouse models (cdkn1c).
Main Results:
- Genes like ACVR2A and STOX1 are linked to pre-eclampsia, and LINC-HELLP to HELLP syndrome.
- Epigenetic factors, particularly maternal transmission of specific chromosomal regions, play a role in disease inheritance.
- The cdkn1c mouse model provides further evidence for the epigenetic contribution to pre-eclampsia.
Conclusions:
- Genetics and epigenetics are critical in pregnancy-associated placental diseases.
- Clear patient group definitions and larger sample sizes are essential for future genetic studies.
- Epigenetic data holds promise for developing early, non-invasive biomarkers for these conditions.
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