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. Author manuscript; available in PMC: 2017 Apr 1.
Published in final edited form as: Nat Genet. 2016 Sep 12;48(10):1162–1170. doi: 10.1038/ng.3660

Table 1.

The newly identified significant blood pressure loci in meta-analysis of the discovery and follow-up samples(P<3.4 × 10−7)

Discovery
(n=146,562)		 Follow-up
(n=180,726)		 Combined
(n=327,288)		 ICBP Discovery
(n=69,395)
Trait Locus* dbSNPID Chr Position CA/
NCA		 CAF Function† Beta (SE)
/Z score‡ 		P value Beta (SE)
/Z score‡ 		P value Beta (SE)/Z score‡ P value IQ∥ or r2/IQ P value
SBP/DBP
Low-frequency variants (0.01 < MAF<0.05)
SBP NPR1 rs35479618 1 153662423 A/G 0.014 E967K 1.34(0.28) 2.1 × 10−6 0.85(0.30) 3.9 × 10−3 1.11(0.20) 5.7×10−8 n.a. n.a.
SBP SVEP1 rs111245230 9 113169775 C/T 0.032 D2702G 0.94(0.18) 2.9 × 10−7 0.44(0.19) 2.2×10−2 0.70(0.13) 1.2×10−7 1/0.91 0.009/0.003
HTN PTPMT1 rs11537751 11 47587452 T/C 0.048 S93L 5.09 3.6 × 10−7 2.72 0.006 5.40 6.9×10−8 1/0.97 0.13/0.11
Common variants (MAF>0.05)
SBP PRDM16 rs2493292 1 3328659 T/C 0.151 P633L 0.42(0.09) 4.0 × 10−6 0.32(0.09) 7.2×10−4 0.37(0.07) 1.4×10−8 n.a. n.a.
DBP PABPC4 rs4660293 1 40028180 G/A 0.208 IN 0.27(0.05) 1.1 × 10−7 0.11(0.04) 0.016 0.18(0.03) 9.6×10−8 1∥ 0.0030/0.0018
SBP SULT1C3 rs6722745 2 108875244 C/T 0.338 M194T 0.28(0.08) 3.3 × 10−4 0.26(0.07) 9.0×10−5 0.27(0.05) 1.1×10−7 0.99∥ 0.37/0.37
PP CSNK1G3 rs4530754 5 122855416 G/A 0.411 IN 0.22(0.05) 4.5×10−6 0.13(0.04) 2.5×10−3 0.17(0.03) 9.9×10−8 1∥ 0.03/0.46
DBP C5orf56 rs2188962 5 131770805 T/C 0.366 ncRNA_IN −0.2(0.04) 4.2×10−6 −0.19(0.04) 1.6×10−6 −0.20(0.03) 3.0×10−11 1∥ 0.86/0.05
DBP SNORD32B rs926552 6 29548089 T/C 0.111 ITG −0.31(0.07) 8.5×10−6 −0.22(0.07) 1.6×10−3 −0.26(0.05) 7.2×10−8 0.88∥ 0.44/0.45
PP MSH5
SAPCD1 		rs409558 6 31708147 G/A 0.176 ncRNA_IN −0.22(0.06) 3.7×10−4 −0.29(0.06) 1.4×10−6 −0.26(0.04) 2.7×10−9 1/0.98 0.0019/0.10
SBP SLC22A7 rs2270860 6 43270151 T/C 0.367 SYN,
splicing		 0.33(0.07) 2.6×10−6 0.31(0.07) 2.4×10−6 0.32(0.05) 2.9×10−11 0.9∥ 0.00013/0.037
PP COL21A1 rs1925153§ 6 56102780 T/C 0.445 IN −0.21(0.05) 1.9×10−5 −0.17(0.05) 5.9×10−4 −0.19(0.04) 4.9×10−8 0.71∥ 0.16/0.42
DBP PHIP rs10943605 6 79655477 A/G 0.462 IN 0.18(0.04) 1.2×10−5 0.15(0.04) 5.4×10−5 0.16(0.03) 3.3×10−9 1∥ 0.05/0.01
DBP HOXA3 rs6969780 7 27159136 C/G 0.125 5’UTR,
splicing		 0.32(0.06) 7.8×10−7 0.21(0.07) 2.0×10−3 0.26(0.05) 1.1×10−8 0.98∥ 0.02/0.1
PP IGFBP3 rs11977526 7 46008110 A/G 0.397 ITG −0.41(0.05) 3.8×10−18 −0.32(0.04) 3.9×10−13 −0.36(0.03) 2.9×10−29 0.87∥ 0.62/0.004
DBP NOS3 rs891511 7 150704843 A/G 0.373 IN −0.25(0.04) 1.8×10−8 −0.26(0.04) 2.0×10−9 −0.26(0.03) 2.0×10−16 n.a. n.a.
DBP HRCT1 rs76452347 9 35906471 T/C 0.191 R63W −0.25(0.05) 1.1×10−6 −0.20(0.05) 1.1×10−4 −0.23(0.04) 6.8×10−10 n.a. n.a.
PP PHF19 rs1953126 9 123640500 T/C 0.331 ITG 0.27(0.05) 6.3×10−8 0.10(0.05) 0.035 0.17(0.03) 1.8×10−7 0.99∥ 0.11/0.86
DBP ADO rs10995311 10 64564934 G/C 0.381 P39A −0.20(0.04) 2.4×10−6 −0.20(0.04) 1.9×10−6 −0.20(0.03) 2.1×10−11 n.a. n.a.
DBP CYP2C19 rs4494250 10 96563757 A/G 0.319 IN 0.21(0.05) 5.2×10−6 0.11(0.04) 5.1×10−3 0.15(0.03) 3.4×10−7 0.93/0.98 0.017/0.0030
DBP ARNTL rs900145 11 13293905 G/A 0.336 ITG −0.25(0.05) 9.1×10−7 −0.15(0.05) 0.002 −0.20(0.03) 1.8×10−8 1∥ 0.0041/0.00087
SBP KCNJ11 rs5219 11 17409572 T/C 0.320 K23E 0.48(0.07) 1.8×10−11 0.21(0.06) 9.4×10−4 0.32(0.05) 4.9×10−12 0.94/1 0.00018/0.0023
DBP CERS5 rs7302981 12 50537815 A/G 0.338 C75R 0.23(0.04) 1.8×10−7 0.27(0.04) 6.5×10−13 0.25(0.03) 9.4×10−19 1∥ 7.7×10−5/0.0053
PP MYH6 rs452036 14 23865885 A/G 0.400 IN −0.23(0.05) 1.6×10−6 −0.31(0.05) 1.4×10−11 −0.27(0.03) 2.4×10−16 0.89∥ 0.64/0.094
SBP TNRC6A rs11639856 16 24788645 A/T 0.193 N185K −0.37(0.08) 7.7×10−6 −0.30(0.08) 3.6×10−4 −0.34(0.06) 1.3×10−8 0.99∥ 0.068/0.54
DBP DPEP1 rs1126464 16 89704365 C/G 0.215 E351Q 0.23(0.05) 6.4×10−6 0.26(0.04) 7.0×10−9 0.24(0.03) 2.4×10−13 1/0.39 0.050/0.077
DBP TBX2 rs8068318 17 59483766 C/T 0.350 IN −0.23(0.05) 2.2×10−7 −0.28(0.04) 1.8×10−12 −0.26(0.03) 3.0×10−18 1∥ 0.00080/9.0×10−6
PP DOT1L rs2302061 19 2226772 C/G 0.163 V1418L 0.30(0.07) 5.1×10−6 0.28(0.06) 1.0×10−5 0.29(0.05) 2.2×10−10 0.64∥ 0.019/0.88
PP INSR rs7248104 19 7224431 A/G 0.395 IN −0.20(0.05) 1.8×10−5 −0.20(0.04) 3.3×10−6 −0.20(0.03) 2.6×10−10 1∥ 0.16/0.43
DBP RGL3 rs167479 19 11526765 T/G 0.448 P162H −0.26(0.04) 6.4×10−10 −0.33(0.04) 3.8×10−20 −0.30(0.03) 4.2×10−28 n.a. n.a.
SBP ZNRF3 rs4823006 22 29451671 G/A 0.424 3’UTR −0.33(0.07) 8.7×10−7 −0.20(0.06) 9.2×10−4 −0.26(0.05) 7.9×10−9 0.98∥ 0.29/0.093

CA/NCA, coded allele/non-coded allele; CAF: coded allele frequency; SYN, synonymous; IN, intronic; ITG, intergenic; UTR3, 3’ untranslated region; The discovery meta-analysis was performed in CHARGE+ Exome Chip BP Consortium samples (n=146,562); The follow-up meta-analysis was performed with samples from the CHD Exome+ Consortium, ExomeBP Consortium, GoT2DGenes Consortium, T2D–GENES consortium samples (n=180,726); The “combined” or joint meta-analysis was performed with both discovery and follow-up samples (n = 327,288); ICBP Discovery, the discovery sample for International Consortium for Blood Pressure; n.a, not available; IQ, Imputation quality; r2/IQ, linkage disequilibrium between the best proxy in ICBP and the one in “dbSNPID” column and imputation quality for the best proxy.

*

Loci are named according to the closest gene based on the position of the lead SNP.

†

Amino acid substitution is provided for a missense variant.

‡

Meta-analysis used the inverse variance method for DBP, PP, and SBP and used the optimal Z score method for HTN.

§

rs1925153 was significant from joint meta-analysis of EA only samples, the rest were from samples of all ancestries.

∥

The same variants in “dbSNPID” column were analyzed in ICBP.