Table 1.
Genes involved in the endothelial system
| Gene symbol | Gene name | Chr | Physical position ± 5,000 bp | SNPs | Functiona |
|---|---|---|---|---|---|
| EDN2 | Endothelin 2 | 1 | (41944446, 41950344) | 1 | Induces vasoconstriction, principally through EDNRA stimulation2 |
| DDAH1 | Dimethylarginine dimethylamino‑ hydrolase 1 | 1 | (85784168, 86044046) | 90 | Participates in NO generation by regulating cellular concentrations of methylarginines, which in turn inhibit NO synthase activity3 |
| VCAM1 | Vascular cell adhesion molecule 1 | 1 | (101185196, 101204601) | 5 | Involved in leukocyte–endothelial cell adhesion and signal transduction1 |
| SELE | Selectin E | 1 | (169691781, 169703220) | 21 | Mediates adhesion and transmigration of leukocytes to vascular endothelium4 |
| EDNRA | Endothelin receptor type A | 4 | (148402069, 148466106) | 25 | Participates in stimulation of cytokine release and endothelial growth factors5 |
| MEF2C | Myocyte enhancer factor 2C | 5 | (88014058, 88199922) | 31 | Contributes to vascular endothelial growth factor expression in endothelial cells 6 |
| EDN1 | Endothelin 1 | 6 | (12290529, 12297427) | 13 | Acts through its receptor stimulation, endothelin receptor type A (EDNRA) and endothelin receptor type B (EDNRB)7 |
| SERPINE 1 | Serpin peptidase inhibitor, clade E | 7 | (100770379, 100782547) | 2 | Contributes to cardiac ventricular remodeling by migration of inflammatory cells and attenuation of extracellular matrix degradation8 |
| NOS3 | Nitric oxide synthase 3, endothelial cell | 7 | (150688144, 150711687) | 8 | Mediates the conversion of L-arginine in NO9 |
| VWF | von Willebrand factor | 12 | (6058040, 6233836,) | 64 | Marker of endothelial damage10 |
| EDNRB | Endothelin receptor type B | 13 | (78469616, 78493903) | 10 | Participates in the control of vascular tone by stimulation of vascular smooth muscle cell receptors11 |
| CYBA | Cytochrome b-245, alpha polypeptide | 16 | (88709697, 88717457) | 1 | Participates in the activation and stabilization of NADPH–oxidase12 |
| TGFB1 | Transforming growth factor, beta 1 | 19 | (41836812, 41859831) | 1 | Regulates proliferation, differentiation, adhesion, migration, and other functions of the endothelial cell13 |
| COL18A1 | Collagen, type XVIII, alpha 1 | 21 | (46825097, 46933634) | 20 | COL18A1 deficiency is associated with vascular endothelial cell damage and its degradation results in the generation of endostatin, a potent vasodilator14 |
Abbreviations: Chr, chromosome; NO, nitric oxide; SNPs, single nucleotide polymorphisms.
a References for gene function correspond with those found in the Supplementary References.