Hypertensive disorders of pregnancy share common cfDNA methylation profiles.

Spinelli, Marialuigia; Zdanowicz, Jarmila A; Keller, Irene; Nicholson, Pamela; Raio, Luigi; Amylidi-Mohr, Sofia; Mosimann, Beatrice; Surbek, Daniel; Mueller, Martin (2022). Hypertensive disorders of pregnancy share common cfDNA methylation profiles. Scientific Reports, 12(1), p. 19837. Nature Publishing Group 10.1038/s41598-022-24348-6

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Hypertensive disorders of pregnancy (HDP) contribute substantially to perinatal morbidity and mortality. Epigenetic changes point towards cardio-metabolic dysregulation for these vascular disorders. In early pregnancy, epigenetic changes using cell free DNA (cfDNA) are largely unexplored. We aimed to investigate these in HDP between 11 and 14 weeks of gestation by analysis of cfDNA methylation profiles in patients with hypertensive disorders. We identified patients without chronic hypertension but with subsequent development of preeclampsia (PE) (n = 11), with chronic hypertension (HT) but without PE development (n = 14), and lacking both PE and HT (n = 422). We matched patients according to PE risk factors into three groups (n = 5 each group): (1) PE: no HT but PE development, (2) HT: chronic hypertension but no PE and (3) Control: no PE or HT. We successfully optimized our cfDNA isolation process prior to whole genome bisulfite sequencing. Analysis of cfDNA methylation changes indicate a common predisposition in PE and HT groups, chiefly of maternal origin. Assessment of significant differentially methylated regions and annotated genes point towards a common cardiovascular predisposition in preeclampsia and hypertension groups in the first trimester. We postulate the pivotal role of the maternal cardiovascular system in HDP, which is already evident in the first trimester.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Gynaecology
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Pränatale Medizin
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
08 Faculty of Science > Department of Biology > Bioinformatics and Computational Biology

UniBE Contributor:

Spinelli, Marialuigia, Zdanowicz, Jarmila Anna, Keller, Irene (B), Nicholson, Pamela, Raio, Luigi, Amylidi-Mohr, Sofia, Mosimann, Beatrice, Surbek, Daniel, Müller, Martin (A)


600 Technology > 610 Medicine & health
500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture




Nature Publishing Group




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Date Deposited:

21 Nov 2022 13:30

Last Modified:

29 Mar 2023 23:38

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