Implications of discoveries from genome-wide association studies in current cardiovascular practice

Table 6 Single nucleotide polymorphisms associated with hypertension and blood pressure in genome-wide association studies

Chr	SNP	Position	Ancestry	N (discovery)	Phenotype	Risk allele	Risk allele frequency	OR/β	P	Nearest gene	Ref.
1	rs17367504	11 785 365	E	34 433	SBP	G	0.14	-0.85	2 × 10-13	MTHFR, CLCN6, NPPA, NPPB, AGTRAP	[42,43]
2	rs6749447	168 749 632	E	542	SBP	G	0.28	1.90	8 × 10-5	STK39	[47]
3	rs9815354	41 887 655	E	29 136	DBP	A	0.17	0.49	3 × 10-9	ULK4	[42,43]
4	rs16998073	81 403 365	E	34 433	DBP	T	0.21	0.50	1 × 10-21	FGF5, PRDM8, C4orf22	[42,43]
4	rs991316	100 541 468	AA	1017	SBP	T	0.45	1.62	5 × 10-6	ADH7	[44]
10	rs11014166	18 748 804	E	29 136	DBP	A	0.66	0.37	1 × 10-8	CACNB2	[42,43]
10	rs1530440	63 194 597	E	34 433	DBP	T	0.19	-0.39	1 × 10-9	C10orf107, TMEM26, RTKN2, RHOBTB1, ARID5B, CYP17A1	[42,43]
10	rs1004467	104 584 497	E	29 136	SBP	A	0.90	1.05	1 × 10-10	TMEM26, RTKN2, RHOBTB1, ARID5B, CYP17A1	[42,43]
10	rs11191548	104 836 168	E	34 433	SBP	T	0.91	1.16	3 × 10-7	CYP17A1, AS3MT, CNNM2, NT5C2	[42,43]
11	rs381815	16 858 844	E	29 136	SBP	T	0.26	0.65	2 × 10-9	PLEKHA7	[42,43]
12	rs17249754	88584	EA	8842	SBP, DBP	A	0.37	1.06	9 × 10-7	ATP2B1	[49]
12	rs2681472	88 533 090	E	29 136	SBP, DBP, HTN	A	0.83	0.50	2 × 10-9	ATP2B1	[42,43]
12	rs2681492,	88 537 220	E	29 136	SBP, DBP, HTN	T	0.80	0.85	4 × 10-11	ATP2B1	[42,43]
12	rs3184504	110 368 991	E	29 136	SBP, DBP	T	0.49	0.48	3 × 10-14	ATXN2, SH2B3	[42,43]
12	rs653178	110 492 139	E	34 433	DBP	T	0.53	-0.46	3 × 10-18	ATXN2, SH2B3	[42,43]
12	rs2384550	113 837 114	E	29 136	DBP	A	0.35	0.43	4 × 10-8	TBX3, TBX5	[42,43]
15	rs1550576	56 000 706	AA	1017	SBP	C	0.86	1.92	3 × 10-6	ALDH1A2	[44]
15	rs1378942	72 865 396	E	34 433	DBP	C	0.36	0.43	1 × 10-23	CSK, CYP1A1, CYP1A2, LMAN1L, CPLX3, ARID3B, ULK3	[42,43]
15	rs6495122	72 912 698	E	29 136	DBP	A	0.42	0.40	2 × 10-10	CSK, CYP1A1, CYP1A2, LMAN1L, CPLX3, ARID3B, ULK3	[42,43]
16	rs13333226	20 273 155	E	3320	HTN	A	0.81	1.15	4 × 10-11	UMOD	[50]
16	rs11646213	81 200 152	E	1977	HTN	T	0.60	1.28	8 × 10-6	CDH13	[48]
17	rs12946454	40 563 647	E	34 433	SBP	T	0.28	0.57	1 × 10-8	PLCD3, ACBD4, HEXIM1, HEXIM2	[42,43]
17	rs16948048	44 795 465	E	34 433	DBP	G	0.39	0.31	5 × 10-9	ZNF652, PHB	[42,43]

E: European; AA: African American; EA: East Asians; SBP: Systolic blood pressure; DBP: Diastolic blood pressure; HTN: Hypertension; ACBD4: Acyl-CoA binding domain containing 4; ADH7: Alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide; AGTRAP: Angiotensin II receptor-associated protein; ALDH1A2: Aldehyde dehydrogenase 1 family, member A2; ARID5B: AT rich interactive domain 5B (MRF1-like); AS3MT: Arsenic (+3 oxidation state) methyltransferase; ATP2B1: ATPase; Ca⁺⁺ transporting; plasma membrane 1; ATXN2: Ataxin 2; C10orf107: Chromosome 10 open reading frame 107; C4orf22: Chromosome 4 open reading frame 22; CACNB2: Calcium channel, voltage-dependent, β 2 subunit; CDH13: Cadherin 13, H-cadherin (heart); CLCN6: Chloride channel 6; CNNM2: Cyclin M2; CPLX3: Complexin 3; CSK: C-src tyrosine kinase; CYP17A1: Cytochrome P450, family 17, subfamily A, polypeptide 1; CYP1A1: Cytochrome P450; family 1, subfamily A, polypeptide 1; CYP1A2: Cytochrome P450, family 1, subfamily A, polypeptide 2; FGF5: Fibroblast growth factor 5; HEXIM1: Hexamethylene bis-acetamide inducible 1; HEXIM2: Hexamthylene bis-acetamide inducible 2; LMAN1L: Lectin, mannose-binding, 1 like; MTHFR: Methylenetetrahydrofolate reductase (NAD(P)H); NPPA: Natriuretic peptide A; NPPB: Natriuretic peptide B; NT5C2: 5'-nucleotidase, cytosolic II; PHB: Prohibitin; PLCD3: Phospholipase C, Δ 3; PLEKHA7: Pleckstrin homology domain containing, family A member 7; PRDM8: PR domain containing 8; RHOBTB1: Rho-related BTB domain containing 1; RTKN2: Rhotekin 2; SH2B3: SH2B adaptor protein 3; STK39: Serine threonine kinase 39; TBX3: T-box 3; TBX5: T-box 5; TMEM26: Transmembrane protein 26; ULK3: Unc-51-like kinase 3 (C. elegans); ULK4: Unc-51-like kinase 4 (C. elegans); UMOD: Uromodulin, ZNF652: Zinc finger protein 652; SNP: Single nucleotide polymorphisms; OR: Odds ratio.