Novel polymorphisms in the promoter and 5' UTR regions of the human vascular endothelial growth factor gene.

We have characterized 5 novel, single-nucleotide polymorphisms in the promoter and 5' UTR regions of the human vascular endothelial growth factor (VEGF) gene. Transitions C --> A at nucleotide position -2578 relative to the translation start site, T --> C at position -1455, G --> A at position -1154, G --> C at position -1001, and C --> T at position -7 were observed. In addition, individuals with the A allele at position -2578 also had an insertion of 18 nucleotides, whereas CC homozygotes did not contain this insertion. We have described the frequency distribution of the polymorphic alleles in the population of healthy volunteers and are investigating the functional significance of the 18-nucleotide insertion and of the single-nucleotide polymorphisms on VEGF gene expression.