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Genetic variations in estrogen and progesterone pathway genes in preeclampsia patients and controls in Bavaria

  • Maternal-Fetal Medicine
  • Published:
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Abstract

Purpose

Hypertensive pregnancy disorders and preeclampsia are major causes of maternal and fetal morbidity and mortality worldwide. Many different organs are involved in the diseases’ clinical phenotype. The underlying mechanism is still unknown, with a possible genetic component. This case–control study investigated effects on the risk of preeclampsia of genetic variations (single nucleotide polymorphisms, SNPs) in the estrogen and progesterone pathway genes.

Methods

The study included 167 patients with preeclampsia and 115 healthy controls from the “Franconian Maternal Health Evaluation Studies” (FRAMES). All patients completed an epidemiological questionnaire, data from which were correlated with prospective data on pregnancy and labor. DNA was isolated from blood samples and genotyping was done by PCR. Variants in the aromatase gene CYP19A1 (rs10046, rs4646), progesterone receptor gene (rs1042838, rs10895068), and estrogen receptor-α gene (rs488133) were examined, and the genotype distribution in the two groups was analyzed statistically.

Results

A significant difference in the distribution frequency of genotypes between preeclampsia patients and controls was identified in one of the five SNPs. For rs10895068 in the progesterone receptor gene, genotype G/A was significantly more frequent among cases than controls (P = 0.023). No significant differences between the two cohorts were found in the other SNPs.

Conclusions

This study showed a significant association between only one SNP in the progesterone receptor and preeclampsia. Other studies have also noted genetic aspects of preeclampsia. The underlying mechanism and causal relationship are not yet known, and further research is needed to explain the extent of genetic variations and the causal relationship in preeclampsia.

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Acknowledgements

The authors acknowledge support provided by Friedrich Alexander University of Erlangen–Nürnberg (FAU) through the funding program Open Access Publishing. The contribution of Melanie Rödl to this study was performed in partial fulfillment of the requirements for obtaining the doctoral degree “Dr. med.” Parts of the study published here were used for her doctoral thesis in the Medical Faculty of Friedrich Alexander University of Erlangen–Nuremberg.

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Authors and Affiliations

  1. Department of Gynecology and Obstetrics, Erlangen University Hospital, Comprehensive Cancer Center Erlangen-EMN, Friedrich Alexander University of Erlangen–Nürnberg (FAU), Erlangen, Germany

    Jutta Pretscher, Matthias Ruebner, Melanie Rödl, Hanna Huebner, Judith Schwitulla, Adriana Titzmann, Charlotte Hartwig, Matthias W. Beckmann, Peter A. Fasching, Michael O. Schneider & Eva Schwenke

  2. Institute of Human Genetics, Erlangen University Hospital, Friedrich Alexander University of Erlangen–Nürnberg (FAU), Erlangen, Germany

    Arif B. Ekici

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  1. Jutta Pretscher
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  2. Matthias Ruebner
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  4. Melanie Rödl
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Contributions

JP: manuscript writing and editing. MR: project development, data management, and manuscript writing. ABE: project development. MR: protocol development and data collection. HH: data management. JS: data analysis. AT: manuscript editing. CH: manuscript editing. MWB: project development and supervision. PAF: project development and manuscript editing. MOS: manuscript editing. ES: manuscript writing and editing.

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Correspondence to Eva Schwenke.

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Pretscher, J., Ruebner, M., Ekici, A.B. et al. Genetic variations in estrogen and progesterone pathway genes in preeclampsia patients and controls in Bavaria. Arch Gynecol Obstet 303, 897–904 (2021). https://doi.org/10.1007/s00404-020-05812-y

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