The genetic component of preeclampsia: A whole-exome sequencing study

PloS One
Anette Tarp HansenMette Christiansen

Abstract

Preeclampsia is a major cause of maternal and perinatal deaths. The aetiology of preeclampsia is largely unknown but a polygenetic component is assumed. To explore this hypothesis, we performed an in-depth whole-exome sequencing study in women with (cases, N = 50) and without (controls, N = 50) preeclampsia. The women were identified in an unselected cohort of 2,545 pregnant women based on data from the Danish National Patient Registry and the Medical Birth Registry. Matching DNA was obtained from a biobank containing excess blood from routine antenatal care visits. Novogene performed the whole-exome sequencing blinded to preeclampsia status. Variants for comparison between cases and controls were filtered in the Ingenuity Variant Analysis software. We applied two different strategies; a disease association panel approach, which included variants in single genes associated with established clinical risk factors for preeclampsia, and a gene panel approach, which included biological pathways harbouring genes previously reported to be associated with preeclampsia. Variant variability was compared in cases and controls at the level of biological processes, signalling pathways, and in single genes. Regardless of the applied strategy...Continue Reading

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Citations

Sep 13, 2019·Molecular Biology Reports·Batool TeimooriSaeedeh Salimi
Mar 17, 2020·Current Hypertension Reports·Paul Laissue, Daniel Vaiman
Nov 27, 2020·Nature Communications·Valgerdur SteinthorsdottirLinda Morgan
Oct 16, 2020·Pregnancy Hypertension·Karen Marcela JiménezPaul Laissue
Jun 6, 2020·Ageing Research Reviews·Abram GillerGil Atzmon
Nov 7, 2018·Biomedicine & Pharmacotherapy = Biomédecine & Pharmacothérapie·Hakimeh Moghaddas SaniMohammadreza Ardalan

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Methods Mentioned

BETA
exome sequencing
gene panel

Software Mentioned

polyphen
PathCards
IVA Software
gnomAD
IVA
MaxEntScan
ClinVar
SIFT
Ingenuity Variant Analysis Software ( Qiagen )

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