Table 1.
SBP and DBP association at 66 loci.
| Locus no. | Locus name | Lead SNP | Chr | Position (hg19) |
CA /NC |
Coded allele freq |
Traits | SBP |
DBP |
||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Effect | SE | P value | Total N | Effect | SE | P value | Total N# | ||||||||
| NEW 1 | HIVEP3 | rs7515635 | 1 | 42,408,070 | T/C | 0.468 | SBP | 0.307 | 0.0444 | 4.81E-12 | 340,969 | 0.1365 | 0.0263 | 2.05E-07 | 340,934 |
| NEW 2 | PNPT1 | rs1975487 | 2 | 55,809,054 | A/G | 0.464 | DBP | −0.2107 | 0.045 | 2.81E-06 | 337,522 | −0.1602 | 0.0266 | 1.75E-09 | 337,517 |
| NEW 3 | FGD5 | rs11128722 | 3 | 14,958,126 | A/G | 0.563 | SBP & DBP | −0.3103 | 0.0469 | 3.61E-11 | 310,430 | −0.1732 | 0.0279 | 5.16E-10 | 310,429 |
| NEW 4 | ADAMTS9 | rs918466 | 3 | 64,710,253 | A/G | 0.406 | DBP | −0.0865 | 0.0459 | 5.94E-02 | 336,671 | −0.1819 | 0.027 | 1.73E-11 | 336,653 |
| NEW 5 | TBC1D1-FLJ13197 | rs2291435 | 4 | 38,387,395 | T/C | 0.524 | SBP & DBP | −0.3441 | 0.0449 | 1.90E-14 | 331,382 | −0.156 | 0.0266 | 4.26E-09 | 331,389 |
| NEW 6 | TRIM36 | rs10077885 | 5 | 114,390,121 | A/C | 0.501 | SBP & DBP | −0.284 | 0.0444 | 1.64E-10 | 338,328 | −0.1735 | 0.0263 | 3.99E-11 | 338,323 |
| NEW 7 | CSNK1G3 | rs6891344 | 5 | 123,136,656 | A/G | 0.819 | DBP | 0.2811 | 0.058 | 1.24E-06 | 338,688 | 0.2311 | 0.0343 | 1.58E-11 | 338,678 |
| NEW 8 | CHST12-LFNG | rs2969070 | 7 | 2,512,545 | A/G | 0.639 | SBP & DBP | −0.2975 | 0.0464 | 1.44E-10 | 335,991 | −0.1821 | 0.0274 | 2.92E-11 | 335,972 |
| NEW 9 | ZC3HC1 | rs11556924 | 7 | 129,663,496 | T/C | 0.384 | SBP & DBP | −0.2705 | 0.0468 | 7.64E-09 | 325,929 | −0.2141 | 0.0276 | 8.15E-15 | 325,963 |
| NEW 10 | PSMD5 | rs10760117 | 9 | 123,586,737 | T/G | 0.415 | SBP | 0.283 | 0.0457 | 6.10E-10 | 333,377 | 0.0999 | 0.0269 | 2.08E-04 | 333,377 |
| NEW 11 | DBH | rs6271* | 9 | 136,522,274 | T/C | 0.072 | SBP & DBP | −0.5911 | 0.0899 | 4.89E-11 | 306,394 | −0.4646 | 0.0532 | 2.42E-18 | 306,463 |
| NEW 12 | RAPSN, PSMC3, SLC39A13 | rs7103648 | 11 | 47,461,783 | A/G | 0.614 | SBP & DBP | −0.3349 | 0.0462 | 4.43E-13 | 335,614 | −0.2409 | 0.0272 | 9.03E-19 | 335,592 |
| NEW 13 | LRRC10B | rs751984 | 11 | 61,278,246 | T/C | 0.879 | SBP & DBP | 0.4074 | 0.0691 | 3.80E-09 | 334,583 | 0.3755 | 0.0409 | 4.20E-20 | 334,586 |
| NEW 14 | SETBP1 | rs12958173 | 18 | 42,141,977 | A/C | 0.306 | SBP & DBP | 0.3614 | 0.0489 | 1.43E-13 | 331,007 | 0.1789 | 0.0289 | 5.87E-10 | 331,010 |
| NEW 15 | INSR | rs4247374 | 19 | 7,252,756 | T/C | 0.143 | SBP & DBP | −0.5933 | 0.0673 | 1.23E-18 | 302,458 | −0.3852 | 0.0396 | 2.08E-22 | 302,459 |
| NEW 16 | ELAVL3 | rs17638167 | 19 | 11,584,818 | T/C | 0.047 | DBP | −0.4784 | 0.1066 | 7.13E-06 | 333,137 | −0.3479 | 0.0632 | 3.71E-08 | 333,107 |
| NEW 17 | CRYAA-SIK1 | rs12627651 | 21 | 44,760,603 | A/G | 0.288 | SBP & DBP | 0.3905 | 0.0513 | 2.69E-14 | 310,738 | 0.2037 | 0.0301 | 1.36E-11 | 310,722 |
| EST 1 | CASZ1 | rs880315 | 1 | 10,796,866 | T/C | 0.641 | SBP & DBP | −0.475 | 0.062 | 2.09E-14 | 184,226 | −0.257 | 0.038 | 1.34E-11 | 184,212 |
| EST 2 | MTHFR-NPPB | rs17037390 | 1 | 11,860,843 | A/G | 0.155 | SBP & DBP | −0.908 | 0.081 | 5.95E-29 | 195,493 | −0.499 | 0.05 | 1.20E-23 | 195,481 |
| EST 3 | ST7L-CAPZA1-MOV10 | rs1620668 | 1 | 113,023,980 | A/G | 0.822 | SBP & DBP | −0.535 | 0.076 | 1.45E-12 | 197,966 | −0.285 | 0.047 | 9.00E-10 | 197,948 |
| EST 4 | MDM4 | rs4245739 | 1 | 204,518,842 | A/C | 0.737 | DBP | 0.326 | 0.068 | 1.37E-06 | 191,594 | 0.243 | 0.041 | 4.63E-09 | 191,578 |
| EST 5 | AGT | rs2493134* | 1 | 230,849,359 | T/C | 0.579 | SBP & DBP | −0.413 | 0.058 | 9.65E-13 | 199,505 | −0.275 | 0.036 | 9.53E-15 | 199,502 |
| EST 6 | KCNK3 | rs2586886 | 2 | 26,932,031 | T/C | 0.599 | SBP & DBP | −0.404 | 0.059 | 5.94E-12 | 197,269 | −0.254 | 0.036 | 1.92E-12 | 197,272 |
| EST 7 | NCAPH | rs772178 | 2 | 96,963,684 | A/G | 0.64 | DBP | −0.072 | 0.061 | 2.39E-01 | 192,513 | −0.208 | 0.038 | 3.58E-08 | 192,501 |
| EST 8 | FIGN-GRB14 | rs1371182 | 2 | 165,099,215 | T/C | 0.443 | SBP & DBP | −0.444 | 0.058 | 1.89E-14 | 196,262 | −0.252 | 0.036 | 1.50E-12 | 196,240 |
| EST 9 | HRH1-ATG7 | rs2594992 | 3 | 11,360,997 | A/C | 0.607 | SBP | −0.334 | 0.06 | 2.31E-08 | 189,895 | −0.136 | 0.037 | 2.20E-04 | 189,854 |
| EST 10 | SLC4A7 | rs711737 | 3 | 27,543,655 | A/C | 0.604 | SBP | 0.334 | 0.058 | 9.93E-09 | 200,282 | 0.17 | 0.036 | 2.24E-06 | 200,260 |
| EST 11 | ULK4 | rs2272007* | 3 | 41,996,136 | T/C | 0.18 | DBP | −0.11 | 0.077 | 1.52E-01 | 193,915 | 0.328 | 0.047 | 3.94E-12 | 193,900 |
| EST 12 | MAP4 | rs6442101* | 3 | 48,130,893 | T/C | 0.692 | SBP & DBP | 0.396 | 0.062 | 1.62E-10 | 200,543 | 0.303 | 0.038 | 1.60E-15 | 200,534 |
| EST 13 | MECOM | rs6779380 | 3 | 169,111,915 | T/C | 0.539 | SBP & DBP | −0.439 | 0.06 | 1.85E-13 | 186,535 | −0.239 | 0.037 | 6.87E-11 | 186,521 |
| EST 14 | FGF5 | rs1458038 | 4 | 81,164,723 | T/C | 0.3 | SBP & DBP | 0.659 | 0.065 | 5.36E-24 | 188,136 | 0.392 | 0.04 | 7.36E-23 | 188,088 |
| EST 15 | ARHGAP24 | rs17010957 | 4 | 86,719,165 | T/C | 0.857 | SBP | −0.498 | 0.082 | 1.51E-09 | 196,325 | −0.173 | 0.051 | 6.63E-04 | 196,292 |
| EST 16 | SLC39A8 | rs13107325 | 4 | 103,188,709 | T/C | 0.07 | SBP & DBP | −0.837 | 0.127 | 4.69E-11 | 175,292 | −0.602 | 0.078 | 1.63E-14 | 175,372 |
| EST 17 | GUCY1A3-GUCY1B3 | rs4691707 | 4 | 156,441,314 | A/G | 0.652 | SBP | −0.349 | 0.06 | 7.10E-09 | 198,246 | −0.163 | 0.037 | 1.08E-05 | 198,226 |
| EST 18 | NPR3-C5orf23 | rs12656497 | 5 | 32,831,939 | T/C | 0.403 | SBP & DBP | −0.487 | 0.06 | 3.85E-16 | 194,831 | −0.228 | 0.037 | 4.73E-10 | 194,829 |
| EST 19 | EBF1 | rs11953630 | 5 | 157,845,402 | T/C | 0.366 | SBP & DBP | −0.38 | 0.065 | 3.91E-09 | 167,698 | −0.23 | 0.04 | 8.07E-09 | 167,708 |
| EST 20 | HFE | rs1799945* | 6 | 26,091,179 | C/G | 0.857 | SBP & DBP | −0.598 | 0.086 | 3.28E-12 | 185,306 | −0.43 | 0.053 | 3.10E-16 | 185,273 |
| EST 21 | BAT2-BAT5 | rs2187668 | 6 | 32,605,884 | T/C | 0.126 | DBP | −0.291 | 0.092 | 1.60E-03 | 189,806 | −0.372 | 0.057 | 4.31E-11 | 189,810 |
| EST 22 | ZNF318-ABCC10 | rs6919440 | 6 | 43,352,898 | A/G | 0.57 | SBP | −0.337 | 0.058 | 4.92E-09 | 200,733 | −0.125 | 0.035 | 4.25E-04 | 200,730 |
| EST 23 | RSPO3 | rs1361831 | 6 | 127,181,089 | T/C | 0.541 | SBP & DBP | −0.482 | 0.058 | 7.38E-17 | 197,027 | −0.271 | 0.036 | 2.34E-14 | 197,012 |
| EST 24 | PLEKHG1 | rs17080093 | 6 | 150,997,440 | T/C | 0.075 | DBP | −0.564 | 0.111 | 3.83E-07 | 194,728 | −0.411 | 0.068 | 1.71E-09 | 194,734 |
| EST 25 | HOTTIP-EVX | rs3735533 | 7 | 27,245,893 | T/C | 0.081 | SBP & DBP | −0.798 | 0.106 | 6.48E-14 | 197,881 | −0.445 | 0.065 | 1.09E-11 | 197,880 |
| EST 26 | PIK3CG | rs12705390 | 7 | 106,410,777 | A/G | 0.227 | SBP | 0.619 | 0.069 | 2.69E-19 | 198,297 | 0.059 | 0.042 | 1.63E-01 | 198,290 |
| EST 27 | BLK-GATA4 | rs2898290 | 8 | 11,433,909 | T/C | 0.491 | SBP | 0.377 | 0.058 | 8.85E-11 | 197,759 | 0.167 | 0.036 | 3.17E-06 | 197,726 |
| EST 28 | CACNB2 | rs12243859 | 10 | 18,740,632 | T/C | 0.326 | SBP & DBP | −0.402 | 0.061 | 6.13E-11 | 199,136 | −0.335 | 0.038 | 8.11E-19 | 199,124 |
| EST 29 | C10orf107 | rs7076398 | 10 | 63,533,663 | A/T | 0.188 | SBP & DBP | −0.563 | 0.076 | 1.72E-13 | 187,013 | −0.409 | 0.047 | 2.55E-18 | 187,024 |
| EST 30 | SYNPO2L | rs12247028 | 10 | 75,410,052 | A/G | 0.611 | SBP | −0.364 | 0.063 | 8.16E-09 | 180,194 | −0.159 | 0.039 | 3.89E-05 | 180,094 |
| EST 31 | PLCE1 | rs932764* | 10 | 95,895,940 | A/G | 0.554 | SBP & DBP | −0.495 | 0.059 | 6.88E-17 | 195,577 | −0.224 | 0.036 | 6.28E-10 | 195,547 |
| EST 32 | CYP17A1-NT5C2 | rs943037 | 10 | 104,835,919 | T/C | 0.087 | SBP & DBP | −1.133 | 0.105 | 2.35E-27 | 193,818 | −0.482 | 0.064 | 4.48E-14 | 193,799 |
| EST 33 | ADRB1 | rs740746 | 10 | 115,792,787 | A/G | 0.73 | SBP & DBP | 0.486 | 0.067 | 4.59E-13 | 184,835 | 0.32 | 0.041 | 8.63E-15 | 184,868 |
| EST 34 | LSP1-TNNT3 | rs592373 | 11 | 1,890,990 | A/G | 0.64 | SBP & DBP | 0.484 | 0.063 | 2.02E-14 | 177,149 | 0.282 | 0.039 | 3.61E-13 | 177,134 |
| EST 35 | ADM | rs1450271 | 11 | 10,356,115 | T/C | 0.468 | SBP & DBP | 0.413 | 0.059 | 3.40E-12 | 191,246 | 0.199 | 0.036 | 4.11E-08 | 191,221 |
| EST 36 | PLEKHA7 | rs1156725 | 11 | 16,307,700 | T/C | 0.804 | SBP & DBP | −0.447 | 0.072 | 5.65E-10 | 200,889 | −0.292 | 0.044 | 3.67E-11 | 200,899 |
| EST 37 | SIPA1 | rs3741378* | 11 | 65,408,937 | T/C | 0.137 | SBP | −0.486 | 0.084 | 8.04E-09 | 194,563 | −0.183 | 0.052 | 4.17E-04 | 194,551 |
| EST 38 | FLJ32810-TMEM133 | rs633185 | 11 | 100,593,538 | C/G | 0.715 | SBP & DBP | 0.522 | 0.067 | 6.97E-15 | 183,845 | 0.288 | 0.041 | 2.38E-12 | 183,825 |
| EST 39 | PDE3A | rs3752728 | 12 | 20,192,972 | A/G | 0.737 | DBP | 0.331 | 0.066 | 4.32E-07 | 200,440 | 0.319 | 0.04 | 2.35E-15 | 200,408 |
| EST 40 | ATP2B1 | rs11105354 | 12 | 90,026,523 | A/G | 0.84 | SBP & DBP | 0.909 | 0.081 | 3.88E-29 | 195,206 | 0.459 | 0.05 | 2.61E-20 | 195,195 |
| EST 41 | SH2B3 | rs3184504* | 12 | 111,884,608 | T/C | 0.475 | SBP & DBP | 0.498 | 0.062 | 9.97E-16 | 177,067 | 0.362 | 0.038 | 1.28E-21 | 177,122 |
| EST 42 | TBX5-TBX3 | rs2891546 | 12 | 115,552,499 | A/G | 0.11 | DBP | −0.529 | 0.1 | 1.36E-07 | 172,012 | −0.38 | 0.061 | 4.71E-10 | 171,980 |
| EST 43 | CYP1A1-ULK3 | rs936226 | 15 | 75,069,282 | T/C | 0.722 | SBP & DBP | −0.549 | 0.067 | 3.06E-16 | 187,238 | −0.363 | 0.041 | 1.03E-18 | 187,221 |
| EST 44 | FURIN-FES | rs2521501 | 15 | 91,437,388 | A/T | 0.684 | SBP & DBP | −0.639 | 0.069 | 3.35E-20 | 164,272 | −0.358 | 0.042 | 1.85E-17 | 164,255 |
| EST 45 | PLCD3 | rs7213273 | 17 | 43,155,914 | A/G | 0.658 | SBP | −0.413 | 0.066 | 4.71E-10 | 164,795 | −0.185 | 0.041 | 7.23E-06 | 164,788 |
| EST 46 | GOSR2 | rs17608766 | 17 | 45,013,271 | T/C | 0.854 | SBP | −0.658 | 0.083 | 2.27E-15 | 188,895 | −0.218 | 0.051 | 1.95E-05 | 188,928 |
| EST 47 | ZNF652 | rs12940887 | 17 | 47,402,807 | T/C | 0.38 | DBP | 0.321 | 0.06 | 7.06E-08 | 192,546 | 0.261 | 0.037 | 1.07E-12 | 192,524 |
| EST 48 | JAG1 | rs1327235 | 20 | 10,969,030 | A/G | 0.542 | SBP & DBP | −0.395 | 0.059 | 2.23E-11 | 192,680 | −0.308 | 0.036 | 1.78E-17 | 192,659 |
| EST 49 | GNAS-EDN3 | rs6026748 | 20 | 57,745,815 | A/G | 0.125 | SBP & DBP | 0.867 | 0.089 | 3.15E-22 | 192,338 | 0.552 | 0.055 | 4.86E-24 | 192,327 |
Meta-analysis results of up to 342,415 individuals of European ancestry for SBP and DBP: Established and new loci are grouped separately. Nearest genes are shown as locus labels but this should not be interpreted as support that the causal gene is the nearest gene. The lead SNP with the lowest P value for either BP trait is shown as the lead SNP and both SBP and DBP results are presented even if both are not genome-wide significant. The SNP effects are shown according to the effect in mm Hg per copy of the coded allele (that is the allele coded 0, 1, 2) under an additive genetic model.
*
in the lead SNP column indicates a non-synonymous coding SNP (either the SNP itself or another SNP in r2 >0.8).
#
Established loci have smaller total sample sizes relative to novel loci (see Supplementary Note).