Abstract
This review describes the current knowledge regarding genetics and epigenetics of pregnancy-associated diseases with placental origin. We discuss the effect on genetic linkage analyses when the fetal genotype determines the maternal phenotype. Secondly, the genes identified by genome-wide linkage studies to be associated with pre-eclampsia (ACVR2A, STOX1) and the HELLP-syndrome (LINC-HELLP) are discussed regarding their potential functions in the etiology of disease. Furthermore, susceptibility genes identified by candidate gene approaches (e.g., CORIN) are described. Next, we focus on the additional challenges that come when epigenetics also play a role in disease inheritance. We discuss the maternal transmission of the chromosome 10q22 pre-eclampsia linkage region containing the STOX1 gene and provide further evidence for the role of epigenetics in pre-eclampsia based on the cdkn1c mouse model of pre-eclampsia. Finally, we provide recommendations to unravel the genetics of pregnancy-associated diseases, specifically regarding clear definitions of patient groups and sufficient patient numbers, and the potential usefulness of (epi)genetic data in early non-invasive biomarker development.
Highlights
This review will describe the current status of the genetics and epigenetics behind pregnancy-associated diseases with placental origin
In eclampsia patients suffer from seizures, while in the HELLP syndrome the symptoms consist of haemolysis, elevated liver enzymes and low platelet count (Steegers et al, 2010)
STOX1 STOX1 was originally identified in a Dutch population consisting of affected siblings and their relatives, in which the affected women showed familial severe early-onset pre-eclampsia complicated by IUGR
Summary
This review will describe the current status of the genetics and epigenetics behind pregnancy-associated diseases with placental origin. FETAL GENOTYPE DETERMINES MATERNAL PHENOTYPE Most (genetic) research investigating pregnancy-associated diseases is performed on the early-onset forms of disease.
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