VEGFA rSNPs, transcriptional factor binding sites and human disease

Three regulatory SNPs (rSNPs) in the promoter region of the vascular endothelial growth factor-A (VEGFA) gene have been significantly associated with several human diseases or conditions. The rSNP alleles alter the DNA landscape for potential transcriptional factors to attach, resulting in changes in transcriptional factor binding sites (TFBS). These TFBS changes are examined with respect to the human diseases which have been found to be significantly associated with the rSNPs.