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A Simple Bioassay for the Evaluation of Vascular Endothelial Growth Factors
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Genes Encoding Vascular Endothelial Growth Factor A (VEGF-A) and VEGF Receptor 2 (VEGFR-2) and Risk for

Mari Mahlman1, Johanna M Huusko, Minna K Karjalainen

  • 1PEDEGO Research Center, and Medical Research Center Oulu, University of Oulu, Oulu, Finland.

Neonatology
|May 23, 2015
PubMed

Insights

Common gene variations in vascular endothelial growth factor A (VEGF-A) and vascular endothelial growth factor receptor 2 (VEGFR-2) were not consistently linked to bronchopulmonary dysplasia (BPD). Further research is needed to understand the complex genetic factors of BPD.

Area of Science:

  • Genetics
  • Neonatal Medicine
  • Molecular Biology

Background:

  • Bronchopulmonary dysplasia (BPD) is a significant complication of prematurity with high heritability.
  • Vascular endothelial growth factor A (VEGF-A) and its receptor VEGFR-2 are implicated in BPD pathogenesis.

Purpose of the Study:

  • To investigate the association between common polymorphisms in VEGF-A and VEGFR-2 genes and the risk of BPD.
  • To determine if genetic variations in these key angiogenic factors contribute to BPD development.

Main Methods:

  • Genotyping of six tagging single nucleotide polymorphisms (tSNPs) for VEGFA and 25 tSNPs for VEGFR2.
  • Study conducted in a genetically homogeneous discovery population (160 infants) and a replication population (328 infants).
  • Infants were born before 30 completed gestational weeks, with BPD cases identified.

Main Results:

  • A significant association was found between VEGFR2 SNP rs4576072 and BPD (grade 2-3) in the discovery population (p = 0.0005, OR = 3.15).
  • The minor allele frequency for rs4576072 was higher in BPD cases (23.9%) than controls (9.1%) in the discovery cohort.
  • This association was not replicated in the more genetically diverse replication population.

Conclusions:

  • Common polymorphisms in VEGF-A and VEGFR-2 genes are not consistently associated with BPD across different populations.
  • The findings align with recent large-scale genetic studies on BPD.
  • Other regulatory mechanisms beyond common gene variations likely contribute to VEGFA and VEGFR2 involvement in BPD pathogenesis.
Abstract

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