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Médecine de la Reproduction

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The genetics of pre-eclampsia: genes, genetic dark matter and missing heritability, how to synthesize them? Volume 24, issue 2, Avril-Mai-Juin 2022

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Author
Université de Paris, Institut Cochin, Inserm U1016, UMR 8104 CNRS <daniel.vaiman@inserm.fr>
* Tirés à part : D. Vaiman

This review summarises the issues raised by recent advances in the genetics of pre-eclampsia (PE), and in particular highlights the clear discrepancy between the high heritability of this disease (~50%) and the variance explained by the handful of genes identified, through various approaches (genome wide associations studies, genetic linkage analysis in families and analysis of genetic variants present in candidate genes). A broader examination of missing heritability in complex traits is presented. The aim of this article is to provide a personal view of some of the major issues raised by genetic studies of preeclampsia in relation to important questions about the heritability of complex phenotypes.