Table 2.
Genetic variants associated with hypertension.
| SNPs | Nearest Gene(s) | Position | Encoded Protein Function |
|---|---|---|---|
| rs880315 | CASZ | 1p36.22 | Zinc finger transcription factor that acts as tumour suppressor. |
| rs4846049 | MTHFR(3′)-NPPB | 1p36.22 | MTHFR catalyse the conversion of 5,10-MTH in 5-MTH and it is involved in homocysteine metabolism. NPPB encodes for the B natriuretic peptide. |
| rs17367504 | MTHFR(5′)-NPPB | ||
| rs17030613 | ST7L-CAPZA1 | 1p13.2 | ST7L is a tumour suppressor factor. CAPZA1 regulates growth of actin filaments. |
| rs2932538 | MOV10 | 1p13.2 | A component of the RISC complex RNA helicase. |
| rs2004776 | AGT | 1q42.2 | Pre-angiotensinogen. |
| rs16849225 | FIGN-GRB14 | 2q24.3 | FIGN regulates microtubules synthesis. GRB4 is a growth factor receptor-binding protein, which interacts with insulin receptors and insulin-like growth factors. |
| rs13082711 | SLC4A7 | 3p24.1 | Sodium bicarbonate co-transporter in neuronal cells, involved in visual and auditory transmission. |
| rs3774372 | ULK4 | 3p22.1 | Serine/Threonine kinase involved in neurite branching and elongation and neuronal migration. |
| rs319690 | MAP4 | 3p21.31 | Promotion of microtubule assembly. |
| rs419076 | MECOM | 3q26.2 | Transcriptional regulator and oncoprotein involved in apoptosis, hematopoiesis, cell differentiation and proliferation. |
| rs1458038 | FGF5 | 4q21.21 | Fibroblast growth factor 5, involved in embryonic development, cell growth, morphogenesis, tissue repair, tumour growth and invasion. |
| rs13107325 | SLC39A8 | 4q24 | Mitochondrial cellular import of zinc, involved in inflammation. |
| rs6825911 | ENPEP | 4q25 | Glutamyl aminopeptidase; associated with renal neoplasm. |
| rs13139571 | GUCY1A3-1B3 | 4q32.1 | Guanylate cyclase 1 soluble subunit α, involved in nitric oxide pathway transduction. |
| rs1173771 | NPR3-C5orf23 | 5p13.3 | Natriuretic peptide receptor 3, responsible for clearing natriuretic peptides through endocytosis of the receptor. |
| rs11953630 | EBF1 | 5q33.3 | Early B-cell factor 1, associated with central obesity, B-lymphocytes differentiation and Hodgkin lymphoma. |
| rs1799945 | HFE | 6p22.2 | Hemochromatosis protein; regulation of iron absorption. |
| rs805303 | BAT2-BAT5 | 6p21.33 | Genes cluster localized near genes for TNF α and β, involved in inflammatory process and associated with insulin dependent diabetes and rheumatoid arthritis. |
| rs17477177 | PIK3CG | 7q22.3 | A catalytic subunit of PI3K, involved in the immune response. |
| rs3918226 | NOS3 | 7q36.1 | Endothelial nitric oxide synthase. |
| rs2898290 | BLK-GATA4 | 8p23.1 | BLK is a tyrosine kinase involved in cell proliferation and differentiation. GATA4 is a zinc finger transcription factor involved in embryogenesis and myocardial differentiation and function. |
| rs1799998 | CYP11B2 | 8q24.3 | Aldosterone synthase. |
| rs4373814 | CACNB2(5′) | 10p12.33 | Member of a voltage-gated calcium channel superfamily, associated with Brugada and Lambert-Eaton myasthenic syndrome. |
| rs1813353 | CACNB2(3′) | ||
| rs4590817 | C10orf107 | 10q21.2 | Chromosome 10 open reading frame 107. Unknown function. |
| rs932764 | PLCE1 | 10q23.33 | Phospholipase involved in Ras pathway, associated with early onset nephrotic syndrome. |
| rs11191548 | CYP17A1-NT5C2 | 10q24.32 | CYP17A1 is the 17α hydroxylase, involved in the steroidogenic pathway; mutated in congenital adrenal hyperplasia. NT5C2 is a hydrolase involved in purine nucleotides metabolism. |
| rs1801253 | ADRB1 | 10q25.3 | Adrenoreceptor β1, which mediate physiological effects of epinephrine and norepinephrine. |
| rs7129220 | ADM | 11p15.4 | Pre-hormone cleaved in adrenomedullin and pro-adrenomedullin, which act as vasodilator, hormone secretion regulators and angiogenesis promoters. |
| rs381815 | PLEKHA7 | 11p15.2 | Pleckstrin homology domain containing A7 associated with breast carcinomas and glaucoma. |
| rs633185 | FLJ32810-TMEM133 | 11q22.1 | FLJ32810 is a regulator of vascular tone. TMEM133 is a transmembrane protein; unknown function. |
| rs17249754 | ATP2B1 | 12q21.33 | Calcium ATPase with critical role in intracellular Ca2+ homeostasis |
| rs3184504 | SH2B3 | 12q24.12 | Signalling activities by growth factor and cytokine receptors; associated with celiac disease and insulin-dependent diabetes. |
| rs11066280 | ALDH2 | 12q24.12 | Mitochondrial aldehyde dehydrogenase 2, involved in the oxidative pathway of alcohol metabolism. |
| rs10850411 | TBX5-TBX3 | 12q24.21 | T-box protein family encoding for transcriptional factors regulating heart and limbs developmental processes. |
| rs1378942 | CYP1A1-ULK3 | 15q24.1 | CYP1A1 is a mono-oxygenases involved in drug catabolism and synthesis of cholesterol, steroid and other lipids. ULK3 is a serine/threonine kinase; unknown function. |
| rs2521501 | FURIN-FES | 15q26.1 | FURIN is a protease, involved in the catabolism of PTH, TGFβ1 and other growth factors. FES is a tyrosine kinase, involved in hematopoiesis and cytokine receptor signalling. |
| rs13333226 | UMOD | 16p12.3 | Regulation of renal sodium handling. See text. |
| rs17608766 | GOSR2 | 17q21.32 | Trafficking membrane protein. |
| rs12940887 | ZNF652 | 17q21.32 | Zinc finger protein, associated with breast and prostate cancer. |
| rs1327235 | JAG1 | 20p12.2 | Hematopoiesis regulation through notch 1 signalling. |
| rs6015450 | GNAS-EDN3 | 20q13.32 | GNAS is a G-protein that activates adenylyl cyclase with a wide variety of cellular responses. EDN3 encode for endothelin 3, implicated also in neural crest-derived cell lineages differentiation. |
The table reports the 43 SNPs associated with blood pressure and the nearest gene (when there were two flanking genes, we reported both). Only a minority of the reported SNPs are near a gene known to be related to BP. Modified from Ehret et al. [12].