Endothelial nitric oxide synthase gene sequence variations and vascular disease

Mol Genet Metab. 2000 Aug;70(4):241-51. doi: 10.1006/mgme.2000.3033.

Abstract

Genes contribute significantly to interpopulation differences in vascular disease. Endothelial nitric oxide synthase (eNOS)-a key regulator of vascular nitric oxide production-has been investigated extensively to determine the relevance of DNA variants in the eNOS gene and vascular diseases. Variants in the promoter region, introns, and exons have been explored in a large number of populations but findings have been inconsistent. This paper reviews the current status of functional significance for reported sequence variations in the eNOS gene and the relevance of these variants to different forms of vascular diseases.

Publication types

  • Review

MeSH terms

  • Genotype
  • Humans
  • Nitric Oxide Synthase / genetics*
  • Nitric Oxide Synthase / physiology
  • Nitric Oxide Synthase Type III
  • Phenotype
  • Polymorphism, Genetic
  • Vascular Diseases / enzymology*

Substances

  • NOS3 protein, human
  • Nitric Oxide Synthase
  • Nitric Oxide Synthase Type III