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Vascular endothelial growth factor single nucleotide polymorphisms and haplotypes in pre-eclampsia: A case-control
Marwa Ben Ali Gannoun1, Safa A Al-Madhi2, Hedia Zitouni1
1Laboratory of Human Genome and Multifactorial Diseases (LR12ES07), Faculty of Pharmacy of Monastir, University of Monastir, Tunisia; Faculty of Science of Bizerte, University of Carthage, Tunisia.
Cytokine
|June 27, 2017
Summary
Vascular endothelial growth factor (VEGF) gene variants and preeclampsia (PE) risk in Tunisian women were studied. Specific VEGFA haplotypes, not individual SNPs, were associated with PE development and severity.
Area of Science:
- Genetics and genomics
- Obstetrics and gynecology
- Molecular biology
Background:
- Vascular endothelial growth factor (VEGF) gene variants have been linked to preeclampsia (PE), but findings are often inconclusive.
- Ethnic variations may influence the association between VEGFA polymorphisms and PE.
- The role of common VEGFA single nucleotide polymorphisms (SNPs) in PE requires further investigation.
Purpose of the Study:
- To determine if common VEGFA SNPs are associated with PE in Tunisian women.
- To explore the link between VEGFA gene variants and PE severity.
- To investigate the role of VEGFA haplotypes in PE pathogenesis.
Main Methods:
- A case-control study involving 300 PE patients and 300 controls.
- Genotyping of ten VEGFA SNPs using real-time PCR.
- Haplotype analysis of seven VEGFA SNPs.
Main Results:
- No significant difference in minor allele frequencies or genotypes of individual VEGFA SNPs between PE cases and controls.
- Seven-locus haplotype analysis revealed significant associations of specific haplotypes (e.g., ATGCCAA, CCAGCGG) with PE.
- Certain haplotypes were linked to increased or reduced PE severity, and one haplotype (CCGGTAG) was associated with a reduced risk of PE.
Conclusions:
- VEGFA haplotypes, rather than individual SNPs, appear to play a role in PE pathogenesis in Tunisian women.
- These findings highlight the importance of considering haplotype analysis in genetic studies of PE.
- Further validation in diverse ethnic populations is recommended.
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