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 promo ter and 5' UTR regions of the human vascular endothelial growth factor (VEG F) gene. Transitions C --> A at nucleotide position -2578 relative co the t ranslation start sire, T --> C at position -1455, G --> A at position -1154 , G --> C at position -1001, and C --> T at position -7 were observed. In a ddition, individuals with the A allele at position -2578 also had an insert ion of 18 nucleotides, whereas CC homozygotes did not contain this insert i on. We have described the frequency distribution of the poly-morphic allele s in the population of healthy volunteers and are investigating the functio nal significance of the 18-nucleotide insertion and of the single-nucleotid e polymorphisms on VEGF gene expression. (C) American Society for Histocomp atibility and Immunogenetics, 1999. Published by Elsevier Science Inc.