Table 1. Summary association results for 29 BP SNPs.
Locus | Index SNP | Chr | Position | CA/NCA | CAF | nsSNP | eSNP | SBP
|
DBP
|
HTN
|
|||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Beta | P-value | Effect in EA/SA/A | Beta | P-value | Effect in EA/SA/A | Beta | P-value | ||||||||
MOV10 | rs2932538 | 1 | 113,018,066 | G/A | 0.75 | Y(p) | Y(p) | 0.388 | 1.2*10−9 | +/+/− | 0.24 | 9.9*10−10 | +/+*/− | 0.049 | 2.9*10−7 |
| |||||||||||||||
SLC4A7 | rs13082711 | 3 | 27,512,913 | T/C | 0.78 | Y(p) | Y(p) | −0.315 | 1.5*10−6 | −/−/+ | −0.238 | 3.8*10−9 | −/−/+ | −0.035 | 3.6*10−4 |
| |||||||||||||||
MECOM | rs419076 | 3 | 170,583,580 | T/C | 0.47 | - | - | 0.409 | 1.8*10−13 | +/+/+ | 0.241 | 2.1*10−12 | +/+/− | 0.031 | 3.1*10−4 |
| |||||||||||||||
SLC39A8 | rs13107325 | 4 | 103,407,732 | T/C | 0.05 | Y | Y(+) | −0.981 | 3.3*10−14 | ?/+/+ | −0.684 | 2.3*10−17 | ?/+/+ | −0.105 | 4.9*10−7 |
| |||||||||||||||
GUCY1A3-GUCY1B3 | rs13139571 | 4 | 156,864,963 | C/A | 0.76 | - | - | 0.321 | 1.2*10−6 | +/−/+ | 0.26 | 2.2*10−10 | +/−/+ | 0.042 | 2.5*10−5 |
| |||||||||||||||
NPR3-C5orf23 | rs1173771 | 5 | 32,850,785 | G/A | 0.6 | - | - | 0.504 | 1.8*10−16 | +*/+/+ | 0.261 | 9.1*10−12 | +*/+/− | 0.062 | 3.2*10−10 |
| |||||||||||||||
EBF1 | rs11953630 | 5 | 157,777,980 | T/C | 0.37 | - | - | −0.412 | 3.0*10−11 | +/+/+ | −0.281 | 3.8*10−13 | +/+/+ | −0.052 | 1.7*10−7 |
| |||||||||||||||
HFE | rs1799945 | 6 | 26,199,158 | G/C | 0.14 | Y | - | 0.627 | 7.7*10−12 | +/+/− | 0.457 | 1.5*10−15 | +/+/− | 0.095 | 1.8*10−10 |
| |||||||||||||||
BAT2-BAT5 | rs805303 | 6 | 31,724,345 | G/A | 0.61 | Y(p) | Y(+) | 0.376 | 1.5*10−11 | −/−/? | 0.228 | 3.0*10−11 | −/−/+ | 0.054 | 1.1*10−10 |
| |||||||||||||||
CACNB2(5′) | rs4373814 | 10 | 18,459,978 | G/C | 0.55 | - | - | −0.373 | 4.8*10−11 | +/+/− | −0.218 | 4.4*10−10 | −/+/− | −0.046 | 8.5*10−8 |
| |||||||||||||||
PLCE1 | rs932764 | 10 | 95,885,930 | G/A | 0.44 | - | - | 0.484 | 7.1*10−16 | +/+/− | 0.185 | 8.1*10−7 | +/+/− | 0.055 | 9.4*10−9 |
| |||||||||||||||
ADM | rs7129220 | 11 | 10,307,114 | G/A | 0.89 | - | - | −0.619 | 3.0*10−12 | ?/−/+ | −0.299 | 6.4*10−8 | ?/−/+ | −0.044 | 1.1*10−3 |
| |||||||||||||||
FLJ32810-TMEM133 | rs633185 | 11 | 100,098,748 | G/C | 0.28 | - | - | −0.565 | 1.2*10−17 | +*/+/+ | −0.328 | 2.0*10−15 | +*/+/− | −0.07 | 5.4*10−11 |
| |||||||||||||||
FURIN-FES | rs2521501 | 15 | 89,238,392 | T/A | 0.31 | - | Y(−) | 0.65 | 5.2*10−19 | +*/+/+ | 0.359 | 1.9*10−15 | +*/+/+ | 0.059 | 7.0*10−7 |
| |||||||||||||||
GOSR2 | rs17608766 | 17 | 42,368,270 | T/C | 0.86 | - | Y(+) | −0.556 | 1.1*10−10 | +/−/+ | −0.129 | 0.017 | +/−/+ | −0.025 | 0.08 |
| |||||||||||||||
JAG1 | rs1327235 | 20 | 10,917,030 | G/A | 0.46 | - | - | 0.34 | 1.9*10−8 | +*/+/+ | 0.302 | 1.4*10−15 | +*/+*/+ | 0.034 | 4.6*10−4 |
| |||||||||||||||
GNAS-EDN3 | rs6015450 | 20 | 57,184,512 | G/A | 0.12 | Y(p) | - | 0.896 | 3.9*10−23 | ?/+/+ | 0.557 | 5.6*10−23 | ?/+*/+ | 0.11 | 4.2*10−14 |
| |||||||||||||||
MTHFR-NPPB | rs17367504 | 1 | 11,785,365 | G/A | 0.15 | - | Y(−/r) | −0.903 | 8.7*10−22 | +/+/+ | −0.547 | 3.5*10−19 | +/+/+ | −0.103 | 2.3*10−10 |
| |||||||||||||||
ULK4 | rs3774372 | 3 | 41,852,418 | T/C | 0.83 | Y | Y(r/p) | −0.067 | 0.39 | −/−/+ | −0.367 | 9.0*10−14 | +/+/+ | −0.017 | 0.18 |
| |||||||||||||||
FGF5 | rs1458038 | 4 | 81,383,747 | T/C | 0.29 | - | - | 0.706 | 1.5*10−23 | +*/+/+ | 0.457 | 8.5*10−25 | +*/+*/+ | 0.072 | 1.9*10−7 |
| |||||||||||||||
CACNB2(3′) | rs1813353 | 10 | 18,747,454 | T/C | 0.68 | - | - | 0.569 | 2.6*10−12 | +/+/+ | 0.415 | 2.3*10−15 | +/+/+ | 0.078 | 6.2*10−10 |
| |||||||||||||||
C10orf107 | rs4590817 | 10 | 63,137,559 | G/C | 0.84 | - | Y(r) | 0.646 | 4.0*10−12 | −/+/− | 0.419 | 1.3*10−12 | −/−/− | 0.096 | 9.8*10−9 |
| |||||||||||||||
CYP17A1-NT5C2 | rs11191548 | 10 | 104,836,168 | T/C | 0.91 | - | Y(−) | 1.095 | 6.9*10−26 | +*/+*/+ | 0.464 | 9.4*10−13 | +*/+*/+ | 0.097 | 1.4*10−5 |
| |||||||||||||||
PLEKHA7 | rs381815 | 11 | 16,858,844 | T/C | 0.26 | - | - | 0.575 | 5.3*10−11 | +*/+/+ | 0.348 | 5.3*10−10 | +*/−/+ | 0.062 | 3.4*10−6 |
| |||||||||||||||
ATP2B1 | rs17249754 | 12 | 88,584,717 | G/A | 0.84 | - | - | 0.928 | 1.8*10−18 | +*/+*/− | 0.522 | 1.2*10−14 | +*/+*/− | 0.126 | 1.1*10−14 |
| |||||||||||||||
SH2B3 | rs3184504 | 12 | 110,368,991 | T/C | 0.47 | Y | Y(+) | 0.598 | 3.8*10−18 | −/−/+ | 0.448 | 3.6*10−25 | −/−/+ | 0.056 | 2.6*10−6 |
| |||||||||||||||
TBX5-TBX3 | rs10850411 | 12 | 113,872,179 | T/C | 0.7 | - | - | 0.354 | 5.4*10−8 | −/+/− | 0.253 | 5.4*10−10 | −/−/− | 0.045 | 5.2*10−6 |
| |||||||||||||||
CYP1A1-ULK3 | rs1378942 | 15 | 72,864,420 | C/A | 0.35 | - | Y(+) | 0.613 | 5.7*10−23 | +*/+/+ | 0.416 | 2.7*10−26 | +*/+/− | 0.073 | 1.0*10−8 |
| |||||||||||||||
ZNF652 | rs12940887 | 17 | 44,757,806 | T/C | 0.38 | - | Y(−) | 0.362 | 1.8*10−10 | +/−/+ | 0.27 | 2.3*10−14 | +/−/+ | 0.046 | 1.2*10−7 |
Y indicates the BP index SNP is a nsSNP, Y(p) indicates a proxy SNP is a nsSNP. Y(+): indicatesBP index SNP is the strongest known eSNP for a transcript; Y(−): indicates BP index SNP is an eSNP but not strongest known eSNP for any transcript. Y(r): indicates BP index SNP is strongest known eSNP in a regional SNP-RTPCR experiment. Y(p): indicates a proxy SNP (r2 > 0.8) to BP SNP is an eSNP but not the strongest known eSNP. Observed effect directions in East Asian (EA), South Asian (SA), and African (A) ancestry individuals are coded + or − if concordant or discordant with directions in European ancestry results;
denotes significance controlling the FDR at 5% over 58 tests per ancestry (Supplementary Tables 5 and 12). Effect size estimates (beta) correspond to mmHg per coded allele for SBP and DBP and ln(odds) per coded allele for HTN.
CA = coded allele; NCA = non-coded allele; CAF = coded allele frequency; ? denotes missing data. Genomic positions use NCBI Build 36 coordinates.