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Association between estrogen receptor alpha (ESR1) gene polymorphisms and severe preeclampsia
Attila Molvarec1, Agota Vér, Andrea Fekete
1Department of Obstetrics and Gynecology, Kútvölgyi Clinical Center, Semmelweis University, Budapest, Hungary. molvarec@freemail.hu
Summary
The estrogen receptor alpha (ESR1) gene
Area of Science:
- Genetics
- Reproductive Biology
- Molecular Biology
Background:
- Estrogen receptor alpha (ESR1) gene polymorphisms are linked to various conditions, including cardiovascular diseases.
- Preeclampsia is a serious pregnancy complication with potential genetic underpinnings.
- Understanding genetic factors influencing preeclampsia risk is crucial for maternal health.
Purpose of the Study:
- To investigate the association between two specific ESR1 gene polymorphisms (PvuII and XbaI) and severe preeclampsia.
- To determine if combined genotypes or haplotypes of these ESR1 polymorphisms influence preeclampsia risk.
- To explore the impact of ESR1 polymorphisms on fetal growth restriction within preeclamptic pregnancies.
Main Methods:
- Case-control study involving 119 severely preeclamptic patients and 103 healthy pregnant women.
- Polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method used to analyze ESR1 PvuII (c.454 -397T>C) and XbaI (c.454 -351A>G) polymorphisms.
- Haplotype estimation performed to assess combined genetic effects and adjusted odds ratios calculated.
Main Results:
- No significant association found between individual PvuII or XbaI polymorphisms and severe preeclampsia.
- Simultaneous carriage of TT/AA genotypes for both polymorphisms was more frequent in preeclamptic patients (24.4% vs. 9.7%).
- Homozygous T-A haplotype carriers demonstrated an increased risk of severe preeclampsia (adjusted OR: 4.36).
- The GG genotype of the XbaI polymorphism was associated with a reduced risk of fetal growth restriction in preeclamptic patients (OR: 0.23).
Conclusions:
- The homozygous T-A haplotype of ESR1 PvuII and XbaI polymorphisms is associated with an increased risk of severe preeclampsia.
- The GG genotype of the XbaI polymorphism may offer a protective effect against fetal growth restriction in severe preeclampsia.
- These findings highlight the role of combined ESR1 gene polymorphisms in preeclampsia susceptibility and severity.
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