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. Author manuscript; available in PMC: 2013 Feb 3.
Published in final edited form as: Cardiovasc Ther. 2010 Dec 6;29(1):37–45. doi: 10.1111/j.1755-5922.2010.00246.x

Table 2.

Summarized Findings in Two Large Scale GWAS studies of blood pressure and hypertension status (modified from www.genome.gov/gwastudies). Replicated genes are shown in bold.

First Author PubMed ID Trait/Disease Initial Sample
Size
Replication
Sample Size
Region Reported Gene(s) Strongest SNP-Risk Allele Risk Allele Frequency
in Controls
P-value Odds ratio or beta-coefficient
and [95% CI]
Newton-Cheh 19430483 Diastolic BP 34,433 100,347 Europeans, 15q24.1 CYP1A1, CYP1A2, CSK, LMAN1L, CPLX3, ARID3B rs1378942-C 0.36 1 × 10−23 0.43 [0.35–0.51] mm Hg increase
12,889 Indian Asian 4q21.21 FGF5, PRDM8, c4orf22 rs16998073-T 0.21 1 × 10−21 0.5 [0.40–0.60] mm Hg increase
12q24.12 ATXN2, SH2B3 rs653178-T 0.53 3 × 10−18 0.46 [0.36–0.56] mm Hg decrease
10q21.2 c10orf107, TMEM26, RTKN2, RHOBTB1, ARID5B rs1530440-T 0.19 1 × 10−9 0.39 [0.27–0.51] mm Hg decrease
17q21.32 ZNF652, PHB rs16948048-G 0.39 5 × 10−9 0.31 [0.21–0.41] mm Hg increase
3q26.2 MDS1 rs1918974-T 0.54 8 × 10−8 0.27 [0.17–0.37] mm Hg decrease
Systolic BP 34,433 100,347 Europeans 10q24.32 CYP17A1, AS3MT, CNNM2, NT5C2 rs11191548-T 0.91 7 × 10−24 1.16 [0.92–1.40] mm Hg increase
12,889 Indian Asian 1p36.22 MTHFR, NPPA, CLCN6, NPPB, AGTRAP rs17367504-G 0.14 2 × 10−13 0.85 [0.63–1.07] mm Hg decrease
17q21.31 PLCD3, ACBD4, HEXIM1, HEXIM2 rs12946454-T 0.28 1 × 10−8 0.57 [0.37–0.77] mm Hg increase
Levy 19430479 Diastolic BP 29,136 34,433 12q24.12 SH2B3 rs3184504-T 0.48 3 × 10−14 0.48 [0.36–0.60] mm Hg increase
15q24.1 CSK, ULK3 rs6495122-A 0.42 2 × 10−10 0.4 [0.28–0.52] mm Hg increase
12q21.33 ATP2B1 rs2681472-A 0.83 1 × 10−9 0.5 [0.34–0.66] mm Hg increase
3p22.1 ULK4 rs9815354-A 0.17 3 × 10−9 0.49 [0.33–0.65] mm Hg increase
10p12.33 CACNB2 rs11014166-A 0.66 1 × 10−8 0.37 [0.25–0.49] mm Hg increase
12q24.21 TBX3, TBX5 rs2384550-A 0.35 4 × 10−8 0.35 [0.23–0.47] mm Hg decrease
11p15.1 PLEKHA7 rs11024074-T 0.72 1 × 10−6 0.33 [0.19–0.47] mm Hg decrease
Systolic BP 29,136 34,433 12q21.33 ATP2B1 rs2681492-T 0.8 4 × 10−11 0.85 [0.60–1.10] mm Hg increase
10q24.32 CYP17A1 rs1004467-A 0.9 1 × 10−10 1.05 [0.74–1.36] mm Hg increase
11p15.1 PLEKHA7 rs381815-T 0.26 2 × 10−9 0.65 [0.43–0.87] mm Hg increase
12q24.12 SH2B3 rs3184504-T 0.48 5 × 10−9 0.58 [0.38–0.78] mm Hg increase
3q26.2 MDS1 rs448378-A 0.52 1 × 10−7 0.51 [0.31–0.71] mm Hg decrease
10p12.33 CACNB2 rs11014166-A 0.66 7 × 10−7 0.5 [0.30–0.70] mm Hg increase
1p36.22 CASZ1 rs12046278-T 0.64 5 × 10−6 0.53 [0.29–0.77] mm Hg decrease
Hypertension 29,136 34,433 12q21.33 ATP2B1 rs2681472-A 0.83 2 × 1011 0.15 [0.11–0.19] increase in log odds
10p12.33 CACNB2 rs11014166-A 0.66 6 × 10−8 0.09 [0.05–0.13] increase in log odds
20q13.32 ZNF831, EDN3 rs16982520-A 0.88 2 × 10−7 0.13 [0.09–0.17] decrease in log odds
8p23.1 MSRA rs11775334-A 0.32 4 × 10−6 0.08 [0.04–0.12] increase in log odds