Table 3. Overlapping signals between blood pressure and cardiovascular endpoint GWAS.
| SNP | Gene (or nearest) | Associated trait | Expression | |||
|---|---|---|---|---|---|---|
| Arteries | Renal cortex | Adrenal | Highest expressing tissues | |||
| rs7412 (missense) | APOE (apolipoprotein E) | PP (4) + CAD (37) | Moderate | Very high | Very high | Liver, adrenals |
| rs78049276/rs6841581* (upstream variant 2KB) | EDNRA (endothelin receptor type A) | PP (42) + CAD (37) | Moderate | Low | Low | Female reproductive organs, arteries |
| rs360153/rs10840293* (intronic) | SWAP70 (SWAP switching B-cell complex subunit 70) | DBP (4) + CAD (38) | Moderate | Low | Low | Adipose, tibial nerve, spleen |
| rs9472135 (intergenic) | VEGFA (vascular endothelial growth factor A) | DBP (4) + eGFR (43) | Moderate | Moderate | Moderate | Thyroid |
| rs1047891 (missense) | CPS1 (carbamoyl-phosphate synthase 1) | SBP (4) + eGFR (40) | Very low | Low | Very low | Liver |
Where multiple studies have identified the genome-wide association, the earlier study is quoted. Expression based on GTEx data, cut-off mean TPM (tags per million) set at minimal/undetectable <0.2; very low 0.2 to 2, low 2 to 20, moderate 20 to 100, high 100 to 1,000 and very high >1,000 for easier comparison. *, denotes SNPs which are in high LD across GWAS (and the SNPs are listed in order of blood pressure variant first); SBP, systolic blood pressure; DBP, diastolic blood pressure; PP, pulse pressure; CAD, composite outcome of coronary artery disease including myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease; eGFR, estimated glomerular filtration rate.