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Published on: March 16, 2017
Endothelial nitric oxide synthase gene polymorphisms in recurrent spontaneous abortions
Maria Karvela1, Sophia Papadopoulou, Evdokia Tsaliki
1Division of Genetics, Department of Biology, University of Athens, Athens, Greece.
Archives of Gynecology and Obstetrics
|February 27, 2008
Summary
Genetic variations in the endothelial nitric oxide synthase (eNOS) gene, specifically the intron 4 repeat polymorphism and the Glu298Asp mutation, were not associated with recurrent spontaneous abortions in the Greek population. These findings suggest these eNOS gene polymorphisms do not impact early pregnancy outcomes.
Area of Science:
- Genetics
- Reproductive Medicine
- Molecular Biology
Background:
- Recurrent spontaneous abortion (RSA) is a multifactorial condition influenced by genetic and environmental factors.
- Endothelial nitric oxide synthase (eNOS) plays a role in pregnancy, but its gene polymorphisms' association with RSA remains controversial.
- The eNOS gene's intron 4 repeat polymorphism (4VNTR) and the exon 7 Glu298Asp missense mutation are potential candidates for influencing RSA risk.
Purpose of the Study:
- To investigate the association between the eNOS 4VNTR polymorphism and the Glu298Asp missense mutation with the risk of recurrent spontaneous abortions (RSA) in a Greek cohort.
- To clarify the controversial role of eNOS gene polymorphisms in early pregnancy maintenance.
Main Methods:
- Case-control study involving 126 women with at least three unexplained spontaneous abortions and 130 control women with at least two live births.
- Genotyping of the 27 bp intron 4 repeat polymorphism (4VNTR) and the Glu298Asp missense mutation using PCR-RFLPs.
- Statistical analysis to compare genotype frequencies between patient and control groups.
Main Results:
- No significant differences in the genotype frequencies of the eNOS intron 4 VNTR polymorphism (bb, ba, aa) were observed between women with RSA and controls.
- No significant differences in the genotype frequencies of the eNOS Glu298Asp polymorphism (GG, GT, TT) were found between the RSA group and the control group.
- Statistical analysis confirmed no significant association between either polymorphism and recurrent spontaneous abortions.
Conclusions:
- The studied polymorphisms in the endothelial nitric oxide synthase (eNOS) gene, namely the intron 4 VNTR and the Glu298Asp mutation, are not associated with an increased risk of recurrent spontaneous abortions in the Greek population.
- These specific eNOS gene variations do not appear to influence early pregnancy outcomes in this cohort.
- Further research may be needed to explore other genetic or environmental factors contributing to recurrent spontaneous abortions.
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