Endothelium and Genetics

There is now strong evidence that a number of genetic factors contribute to endothelial function. The endothelium produces a number of vasoactive mediators and interacts with other cells to regulate vascular function. Many factors are gene products, which are affected by genetic variations commonly found in the human genome. A good example is nitric oxide, which is produced by endothelial nitric oxide synthase (eNOS) encoded by the NOS3 gene. This gene displays many genetic polymorphisms including single nucleotide polymorphisms (SNPs), variable number of tandem repeats (VNTRs), microsatellites, and insertions/deletions, which have been implicated in many cardiovascular diseases. They also affect responses to drugs that affect eNOS activity in the cardiovascular system. However, combinations of polymorphisms that interact with each other are probably more relevant to improve our understanding of the genetic contribution to the vascular function.