TABLE 2.
Top ten variants observed for association analysis of aTRH in each self-reported race/ethnicity-control strata.
| rsID | CHR:BP | REF/EA | EAF | Or (95% CI) | p-value a | Consequence | Gene(s) |
|---|---|---|---|---|---|---|---|
| Multi-ethnicity: aTRH (n = 1,705) versus treated controls (n = 5,424) | |||||||
| rs1175395756 | chr6:124515703 | TTCGCTTTCTCTCCGTC/T | 0.2586 | 0.35 (0.25, 0.51) | 1.38E-08 | intronic | NKAIN2 |
| rs6086545 | chr20:935220 | C/A | 0.1712 | 1.35 (1.20, 1.52) | 4.86E-07 | intergenic | ANGPT4;RSPO4 |
| rs189036218 | chr6:8077088 | C/T | 0.0054 | 3.73 (2.23, 6.25) | 5.33E-07 | ncRNA_intronic | EEF1E1-BLOC1S5 |
| rs538121738 | chr3:84401497 | G/A | 0.0104 | 2.51 (1.73, 3.65) | 1.25E-06 | intergenic | LINC02008;LINC00971 |
| rs116250062 | chr5:108665213 | T/A | 0.0065 | 4.14 (2.33, 7.35) | 1.29E-06 | intergenic | FBXL17;LINC01023 |
| rs138450763 | chr6:8129403 | G/A | 0.0052 | 3.64 (2.16, 6.14) | 1.34E-06 | intergenic | EEF1E1-BLOC1S5;SLC35B3 |
| rs12335619 | chr9:3669438 | G/C | 0.0497 | 0.64 (0.54, 0.77) | 1.48E-06 | ncRNA_intronic | RFX3-AS1 |
| rs140823205 | chr12:103789678 | T/TA | 0.0270 | 0.57 (0.45, 0.72) | 1.59E-06 | intronic | NT5DC3 |
| rs1546149 | chr8:15475599 | G/A | 0.2864 | 1.26 (1.14, 1.38) | 1.64E-06 | intergenic | SGCZ;TUSC3 |
| rs761571 | chr20:932022 | T/C | 0.1880 | 1.31 (1.17, 1.47) | 1.89E-06 | intergenic | ANGPT4;RSPO4 |
| Multi-ethnicity: aTRH (n = 1,705) versus normotensive controls (n = 22,079) | |||||||
| rs1175395756 | chr6:124515703 | TTCGCTTTCTCTCCGTC/T | 0.3455 | 0.32 (0.23, 0.43) | 3.83E-13 | intronic | NKAIN2 |
| rs142718434 | chr18:69043215 | C/T | 0.0065 | 2.56 (1.78, 3.68) | 3.98E-07 | intronic | CCDC102B |
| rs74574593 | chr21:36426260 | G/A | 0.0183 | 1.74 (1.40, 2.17) | 6.77E-07 | intergenic | CHAF1B;CLDN14 |
| rs61312821 | chr5:160927044 | G/A | 0.1129 | 1.42 (1.23, 1.63) | 7.51E-07 | intergenic | ATP10B;LINC02159 |
| rs12476527 | chr2:26692756 | G/T | 0.4896 | 0.80 (0.74, 0.88) | 8.23E-07 | UTR5 | KCNK3 |
| rs79890489 | chr3:27831750 | C/A | 0.0059 | 2.47 (1.72, 3.55) | 1.05E-06 | ncRNA_exonic | LINC01981 |
| rs115299786 | chr3:27830202 | T/G | 0.0062 | 2.43 (1.70, 3.48) | 1.18E-06 | ncRNA_intronic | LINC01980 |
| rs191754301 | chr5:26402669 | G/A | 0.0065 | 2.40 (1.68, 3.41) | 1.20E-06 | intergenic | LINC02211;CDH9 |
| rs899934113 | chr3:27845147 | TA/T | 0.0062 | 2.42 (1.69, 3.47) | 1.26E-06 | intronic | LINC01980 |
| rs76818748 | chr15:54329458 | T/C | 0.0586 | 0.63 (0.52, 0.76) | 1.46E-06 | intronic | UNC13C |
| AFR: aTRH (n = 768) versus treated controls (n = 1,924) | |||||||
| rs1546149 | chr8:15475599 | G/A | 0.3398 | 1.45 (1.27, 1.65) | 2.73E-08 | intergenic | SGCZ;TUSC3 |
| rs183165107 | chr5:38365438 | G/A | 0.0100 | 5.48 (2.90, 10.36) | 1.59E-07 | intronic | EGFLAM |
| rs80116392 | chr11:133314740 | G/C | 0.0721 | 1.87 (1.48, 2.37) | 2.06E-07 | intronic | OPCML |
| rs566745771 | chr12:132295343 | C/T | 0.0050 | 10.27 (4.20, 25.12) | 3.28E-07 | intronic | GALNT9 |
| rs74179759 | chr20:15137285 | G/A | 0.0063 | 7.83 (3.51, 17.45) | 4.78E-07 | intronic | MACROD2 |
| rs6595479 | chr5:123821788 | G/A | 0.0520 | 2.02 (1.53, 2.66) | 7.60E-07 | intergenic | CSNK1G3;LINC01170 |
| rs76368370 | chr18:71114951 | C/G | 0.0396 | 2.21 (1.62, 3.03) | 7.68E-07 | intergenic | GTSCR1;LINC01541 |
| rs116645995 | chr1:239428421 | C/T | 0.0137 | 3.78 (2.23, 6.40) | 7.87E-07 | intronic | CHRM3 |
| rs17126926 | chr10:109992693 | T/C | 0.0555 | 1.98 (1.51, 2.60) | 9.83E-07 | ncRNA_intronic | ADD3-AS1 |
| rs115632010 | chr4:93349186 | A/T | 0.0165 | 3.48 (2.11, 5.74) | 9.99E-07 | intronic | GRID2 |
| AFR: aTRH (n = 768) versus normotensive controls (n = 5,032) | |||||||
| rs62434735 | chr6:147600061 | G/A | 0.0569 | 2.06 (1.58, 2.68) | 7.45E-08 | intergenic | SAMD5;SASH1 |
| rs183634807 | chr2:32050050 | G/A | 0.0138 | 3.88 (2.33, 6.47) | 1.92E-07 | intergenic | DPY30;SPAST |
| rs11963682 | chr6:147594975 | C/T | 0.0555 | 2.00 (1.54, 2.61) | 2.85E-07 | intergenic | SAMD5;SASH1 |
| rs117043225 | chr8:56731207 | C/T | 0.0054 | 8.78 (3.75, 20.57) | 5.71E-07 | intergenic | LINC00968;IMPAD1 |
| rs73987603 | chr2:212980098 | G/A | 0.1961 | 0.68 (0.59, 0.79) | 6.68E-07 | intergenic | MIR4776-2;IKZF2 |
| rs113287654 | chr12:127301710 | G/C | 0.0761 | 1.75 (1.40, 2.20) | 9.14E-07 | intergenic | LINC02376;LINC02375 |
| rs11017247 | chr10:130427166 | A/T | 0.3075 | 0.74 (0.65, 0.83) | 1.09E-06 | intergenic | GLRX3;MIR378C |
| rs190813229 | chr2:32006833 | C/T | 0.0115 | 3.97 (2.28, 6.91) | 1.10E-06 | intronic | MEMO1 |
| rs115965650 | chr2:226205376 | C/T | 0.0070 | 7.53 (3.34, 16.97) | 1.12E-06 | intergenic | LOC646736;MIR5702 |
| rs74552450 | chr2:226251404 | T/A | 0.0070 | 6.93 (3.17, 15.16) | 1.23E-06 | intergenic | LOC646736;MIR5702 |
| EUR: aTRH (n = 395) versus treated controls (n = 2,730) | |||||||
| rs11711860 | chr3:38776013 | C/A | 0.2566 | 1.64 (1.37, 1.97) | 6.16E-08 | intronic | SCN10A |
| rs73064548 | chr3:38782346 | C/G | 0.2567 | 1.64 (1.37, 1.97) | 6.18E-08 | intronic | SCN10A |
| rs62244107 | chr3:38778263 | C/T | 0.2566 | 1.64 (1.37, 1.96) | 6.30E-08 | intronic | SCN10A |
| rs62244108 | chr3:38781988 | G/A | 0.2567 | 1.64 (1.37, 1.96) | 6.34E-08 | intronic | SCN10A |
| rs62244106 | chr3:38777782 | T/C | 0.2570 | 1.64 (1.37, 1.96) | 6.54E-08 | intronic | SCN10A |
| rs7430726 | chr3:38776830 | T/C | 0.2570 | 1.64 (1.37, 1.96) | 6.54E-08 | intronic | SCN10A |
| rs11129808 | chr3:38785608 | T/C | 0.2571 | 1.64 (1.37, 1.96) | 7.83E-08 | intronic | SCN10A |
| rs12172966 | chr3:38785717 | T/G | 0.2570 | 1.63 (1.36, 1.95) | 1.08E-07 | intronic | SCN10A |
| rs11927856 | chr3:38779283 | T/C | 0.2586 | 1.62 (1.36, 1.94) | 1.11E-07 | intronic | SCN10A |
| rs4072090 | chr3:38773939 | G/T | 0.2574 | 1.62 (1.35, 1.94) | 1.35E-07 | intronic | SCN10A |
| EUR: aTRH (n = 395) versus normotensive controls (n = 12,483) | |||||||
| rs62244107 | chr3:38778263 | C/T | 0.2532 | 1.54 (1.30, 1.82) | 5.64E-07 | intronic | SCN10A |
| rs11711860 | chr3:38776013 | C/A | 0.2532 | 1.54 (1.30, 1.82) | 5.73E-07 | intronic | SCN10A |
| rs62244108 | chr3:38781988 | G/A | 0.2533 | 1.54 (1.30, 1.82) | 6.02E-07 | intronic | SCN10A |
| rs7430726 | chr3:38776830 | T/C | 0.2534 | 1.54 (1.30, 1.82) | 6.24E-07 | intronic | SCN10A |
| rs73064548 | chr3:38782346 | C/G | 0.2534 | 1.54 (1.30, 1.82) | 6.31E-07 | intronic | SCN10A |
| rs62244106 | chr3:38777782 | T/C | 0.2534 | 1.54 (1.30, 1.82) | 6.35E-07 | intronic | SCN10A |
| rs11129808 | chr3:38785608 | T/C | 0.2536 | 1.53 (1.30, 1.81) | 6.76E-07 | intronic | SCN10A |
| rs34623024 | chr10:9717155 | T/G | 0.2002 | 1.58 (1.32, 1.89) | 8.42E-07 | intergenic | LOC101928272;LOC101928298 |
| rs12779933 | chr10:9715550 | C/T | 0.1994 | 1.58 (1.32, 1.89) | 8.60E-07 | intergenic | LOC101928272;LOC101928298 |
| rs12172966 | chr3:38785717 | T/G | 0.2534 | 1.53 (1.29, 1.81) | 8.67E-07 | intronic | SCN10A |
a
p-value using saddle point approximation. Statistical significance p < 5.00E-08 (p-value bolded).
Abbreviations: rsID-reference SNP, cluster ID; CHR-chromosome; BP- base position hg38 build; REF- reference allele; EA-effect allele; EAF- effect allele frequency; OR-odds, ratio; CI- confidence interval; aTRH- apparent treated-resistant hypertension; UTR5- 5′ untranslated region; ncRNA-non-coding RNA; AFR-self-reported African American race/ethnicity; EUR-self-reported European American race/ethnicity.