Table I.
Overview of genetic polymorphisms related to the development of both endometriosis and CVD, as confirmed by gene association studies and/or GWAS.
| dbSNP ID | Endometriosis and CVD-associated gene | Function | (Refs.) |
|---|---|---|---|
| rs1570360 | VEGF | A signaling protein involved in both vasculogenesis and angiogenesis | (108,109) |
| rs3025039 | VEGF | A signaling protein involved in both vascularization and angiogenesis | (108,111) |
| rs1800796 | IL-6 | A pro-inflammatory cytokine; stimulator of osteoclast formation | (114,115) |
| rs1800871 | IL-10 | An anti-inflammatory cytokine; inhibitor of Th1 differentiation | (116,118) |
| rs11556213 | IL-16 | A T-cell proinflammatory cytokine; a chemoattractant factor | (9,119) |
| rs9340799 | ESR1 | A nuclear receptor activated by the sex hormone estrogen | (112,113) |
| rs1801133 | MTHFR | A key regulatory enzyme in folate and homocysteine metabolism | (120,121) |
| rs507666 | ABO | Blood group determined by the presence of A and B antigens on the surface of the red blood cells | (124,125) |
| rs1042522 | TP53 | A nuclear phosphoprotein; a tumor suppressor factor | (126,180) |
| rs2812378 | CCL21 | A cytokine that mediating homing of lymphocytes to secondary lymphoid organs | (122,123) |
CVD, cardiovascular disease; VEGF, vascular endothelial growth factor; IL, interleukin; ESR1, estrogen receptor 1; MTHFR, methylenetetrahydrofolate reductase; CCL21, C-C motif chemokine ligand 21.