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. 2018 Apr 25;17:61. doi: 10.1186/s12933-018-0705-0

Table 2.

Replication of CAD SNPs previously identified in the general population

SNP CHR BP Locus Published GWAS results Discovery GWAS in T1D patients
EAa EAFb ORc EAFd ORe [95% CI] Pf Directiong Powerh
rs11206510 1 55496039 PCSK9 T/C 0.848 1.08 0.815 1.08 [0.883–1.324] 0.223 −++ 0.150
rs9970807 1 56965664 PPAP2B C/T 0.915 1.13 0.906 1.21 [0.904–1.625] 0.098 +++ 0.380
rs7528419 1 109817192 SORT1 A/G 0.786 1.12 0.784 1.11 [0.918–1.348] 0.138 +++ 0.260
rs11810571 1 151762308 TDRKH G/C 0.849 1.06 0.854 1.05 [0.836–1.316] 0.339 −+− 0.080
rs1892094 1 169094459 ATP1B1 T/C 0.500 0.96 0.529 1.08 [0.919–1.266] 0.822 −++ 0.200
rs6700559 1 200646073 DDX59 T/C 0.470 0.96 0.460 1.15 [0.982–1.338] 0.958 +−+ 0.520
rs2820315 1 201872264 LMOD1 T/C 0.300 1.05 0.298 0.97 [0.820–0.156] 0.618 −++ 0.060
rs17464857 1 222762709 MIA3 T/G 0.861 1.06 0.842 1.12 [0.901–1.405] 0.148 +++ 0.250
rs16986953 2 19942473 AK097927 A/G 0.105 1.09 0.075 1.07 [0.799–1.450] 0.314 +++ 0.080
rs7567217 2 21303470 APOB T/C 0.860 1.07 0.858 1.02 [0.811–1.297] 0.415 −+ 0.060
rs7568458 2 85788175 GGCX A/T 0.449 1.06 0.460 1.06 [0.904–1.247] 0.232 +−+ 0.140
rs17678683 2 145286559 ZEB2 G/T 0.088 1.10 0.079 1.23 [0.900–1.692] 0.095 +− 0.390
rs2252641 2 145801461 ZEB2 C/T 0.475 1.03 0.450 1.01 [0.867–1.186] 0.430 ++− 0.050
rs1250229 2 216304384 FN1 T/C 0.256 1.07 0.260 0.88 [0.730–1.060] 0.911 − 0.390
rs2571445 2 218683154 TNS1 A/G 0.390 1.04 0.388 1.05 [0.894–1.234] 0.275 +−+ 0.110
rs1801251 2 233633460 KCNJ13 A/G 0.350 1.05 0.344 1.15 [0.975–1.352] 0.049 ++− 0.490
rs7623687 3 49448566 RHOA A/C 0.855 1.08 0.864 0.96 [0.756–1.212] 0.626 +++ 0.060
rs142695226 3 124475201 ITGB5 G/T 0.138 1.07 0.152 0.95 [0.754–1.195] 0.672 −+− 0.090
rs201477372 3 138099161 MRAS TTTC/T 0.163 1.08 0.155 1.02 [0.829–1.264] 0.411 −+− 0.060
rs12493885 3 153839866 ARHGEF26 C/G 0.886 1.07 0.866 0.87 [0.691–1.089] 0.890 +− 0.260
rs17087335 4 57838583 NOA1 T/G 0.210 1.06 0.177 0.99 [0.812–1.215] 0.523 −++ 0.050
rs10857147 4 81181072 FGF5 T/A 0.275 1.05 0.282 1.02 [0.855–1.215] 0.417 ++− 0.060
rs7678555 4 120909501 MAD2L1 C/A 0.301 1.05 0.287 0.92 [0.770–1.100] 0.818 −+ 0.200
rs4593108 4 148281001 MIR548G C/G 0.795 1.07 0.831 0.93 [0.761–1.145] 0.743 +− 0.110
rs1878406 4 148393664 EDNRA C/T 0.844 0.94 0.894 0.94 [0.740–1.208] 0.328 −+ 0.070
rs72689147 4 156639888 GUCY1A3 G/T 0.817 1.07 0.812 1.13 [0.919–1.390] 0.122 +++ 0.300
rs273909 5 131667353 SLC22A4 G/A 0.117 1.06 0.104 0.94 [0.726–1.217] 0.680 − 0.090
rs246600 5 142516897 ARHGAP26 T/C 0.480 1.05 0.486 0.98 [0.839–1.155] 0.575 −+− 0.060
rs9349379 6 12903957 PHACTR1 G/A 0.432 1.14 0.392 1.07 [0.919–1.267] 0.174 +++ 0.200
rs7454157 6 12909874 PHACTR1 G/A 0.651 1.10 0.622 1.15 [0.978–1.371] 0.044 +++ 0.550
rs6909752 6 22612629 HDGFL1 A/G 0.351 1.05 0.374 1.01 [0.851–1.186] 0.476 −+− 0.050
rs3130683 6 31888367 C2 T/C 0.860 1.09 0.960 0.69 [0.455–1.034] 0.964 +− 0.580
rs17609940 6 35034800 ANKS1A G/C 0.824 1.03 0.796 1.32 [1.077–1.635] 0.004 +++ 0.890
rs56336142 6 39134099 KCNK5 T/C 0.807 1.07 0.786 1.04 [0.860–1.265] 0.333 +− 0.080
rs10947789 6 39174922 KCNK5 T/C 0.775 1.05 0.753 1.07 [0.890–1.293] 0.229 +−+ 0.150
rs12202017 6 134173151 TCF21 A/G 0.700 1.07 0.713 1.02 [0.856–1.215] 0.411 +− 0.060
rs12190287 6 134214525 TCF21 C/G 0.617 1.06 0.633 1.06 [0.896–1.270] 0.232 +− 0.150
rs2048327 6 160863532 SLC22A3 T/C 0.646 0.94 0.633 1.00 [0.854–1.188] 0.538 −+− 0.050
rs3798220 6 160961137 LPA T/C 0.975 0.70 0.986 0.74 [0.397–1.393] 0.178 +− 0.140
rs55730499 6 161005610 LPA T/C 0.056 1.37 0.079 1.22 [0.925–1.609] 0.078 +0+ 0.350
rs4252185 6 161123451 PLG C/T 0.060 1.34 0.087 1.15 [0.862–1.541] 0.168 +++ 0.210
rs4252120 6 161143608 PLG T/C 0.740 1.03 0.709 0.91 [0.766–1.084] 0.852 −+ 0.240
rs2023938 7 19036775 HDAC9 T/C 0.897 0.94 0.899 0.87 [0.679–1.135] 0.161 +− 0.200
rs2107595 7 19049388 HDAC9 A/G 0.200 1.08 0.174 1.14 [0.926–1.406] 0.106 +++ 0.310
rs12539895 7 107091849 COG5 C/A 0.807 1.04 0.788 1.14 [0.931–1.394] 0.101 +−+ 0.350
rs10953541 7 107244545 BCAP29 C/T 0.783 1.05 0.750 1.16 [0.967–1.401] 0.054 ++− 0.490
rs11556924 7 129663496 ZC3HC1 C/T 0.687 1.08 0.593 0.97 [0.832–1.147] 0.610 −+ 0.060
rs10237377 7 139757136 PARP12 T/G 0.350 0.95 0.362 0.91 [0.766–1.084] 0.148 −+− 0.260
rs3918226 7 150690176 NOS3 T/C 0.060 1.14 0.088 0.90 [0.672–1.212] 0.751 −++ 0.140
rs264 8 19813180 LPL G/A 0.853 1.06 0.846 0.94 [0.756–1.168] 0.711 −+ 0.100
rs2954029 8 126490972 TRIB1 A/T 0.551 1.04 0.529 1.05 [0.896–1.232] 0.269 ++− 0.110
rs3217992 9 22003223 CDKN2BAS1 C/T 0.607 0.88 0.614 0.92 [0.789–1.084] 0.169 − 0.200
rs2891168 9 22098619 CDKN2BAS1 G/A 0.489 1.21 0.505 1.16 [0.993–1.362] 0.030 +++ 0.6
rs2519093 9 136141870 ABO T/C 0.191 1.08 0.186 0.98 [0.800–1.203] 0.571 −++ 0.060
rs2487928 10 30323892 KIAA1462 A/G 0.418 1.06 0.458 1.08 [0.924–1.271] 0.161 −++ 0.220
rs2624695 10 44549767 CXCL12 C/T 0.534 0.94 0.503 1.08 [0.926–1.270] 0.843 +++ 0.220
rs501120 10 44753867 CXCL12 T/C 0.813 1.08 0.863 1.18 [0.927–1.508] 0.088 +++ 0.400
rs11203043 10 90989279 LIPA G/A 0.576 1.04 0.551 0.89 [0.764–1.052] 0.909 − 0.360
rs1412444 10 91002927 LIPA T/C 0.369 1.07 0.326 0.94 [0.798–1.116] 0.749 −+− 0.130
rs11191416 10 104604916 CYP17A1 T/G 0.873 1.08 0.915 0.90 [0.686–1.186] 0.768 +− 0.120
rs11042937 11 10745394 MRVI1-CTR9 T/G 0.490 1.04 0.499 1.06 [0.908–1.248] 0.220 ++− 0.150
rs3993105 11 13303071 ARNTL T/C 0.704 1.05 0.693 1.03 [0.866–1.228] 0.364 −+− 0.070
rs12801636 11 65391317 PCNX3 A/G 0.230 0.95 0.225 0.98 [0.810–1.189] 0.425 +− 0.060
rs590121 11 75274150 SERPINH1 T/G 0.300 1.05 0.295 0.80 [0.669–0.961] 0.992 − 0.830
rs9319428 13 28973621 FLT1 A/G 0.314 1.04 0.289 1.03 [0.874–1.227] 0.339 −++ 0.070
rs4773144 13 110960712 COL4A2 A/G 0.572 0.95 0.555 0.99 [0.850–1.172] 0.493 −++ 0.050
rs11838776 13 111040681 COL4A2 A/G 0.263 1.07 0.284 1.33 [1.113–1.606] 0.001 ++− 0.980
rs9515203 13 111049623 COL4A2 T/C 0.761 1.07 0.736 1.20 [0.983–1.468] 0.036 +++ 0.650
rs10139550 14 100145710 HHIPL1 G/C 0.423 1.06 0.413 0.96 [0.819–1.145] 0.645 −+ 0.070
rs6494488 15 65024204 RBPMS2 G/A 0.180 0.95 0.151 1.01 [0.803–1.280] 0.545 +− 0.050
rs56062135 15 67455630 SMAD3 C/T 0.790 1.07 0.758 1.07 [0.893–1.302] 0.214 ++− 0.160
rs7173743 15 79141784 ADAMTS7 T/C 0.564 1.08 0.515 1.00 [0.855–1.171] 0.495 −++ 0.050
rs8042271 15 89574218 ABHD2 G/A 0.900 1.10 0.947 0.93 [0.602–1.457] 0.613 −+ 0.070
rs17514846 15 91416550 FURIN-FES A/C 0.440 1.05 0.461 1.08 [0.924–1.267] 0.163 ++− 0.210
rs1800775 16 56995236 CETP C/A 0.510 1.04 0.524 0.99 [0.844–1.153] 0.568 −+− 0.050
rs1050362 16 72130815 DHX38 A/C 0.380 1.04 0.351 1.11 [0.939–1.313] 0.110 +−+ 0.310
rs7500448 16 83045790 CDH13 A/G 0.752 1.06 0.755 1.09 [0.894–1.321] 0.202 +−+ 0.190
rs216172 17 2126504 SMG6 C/G 0.350 1.05 0.368 1.13 [0.963–1.329] 0.067 +++ 0.420
rs12936587 17 17543722 RAI1 G/A 0.611 1.03 0.542 1.00 [0.857–1.174] 0.480 −++ 0.050
rs17608766 17 45013271 GOSR2 C/T 0.140 1.07 0.133 0.89 [0.705–1.121] 0.840 − 0.220
rs999474 17 46987665 UBE2Z G/A 0.600 1.04 0.572 0.92 [0.789–1.084] 0.832 − 0.130
rs7212798 17 59013488 BCAS3 C/T 0.150 1.08 0.155 0.98 [0.786–1.221] 0.570 −++ 0.060
rs1867624 17 62387091 PECAM1 C/T 0.390 0.96 0.377 1.06 [0.898–1.241] 0.744 +++ 0.130
rs663129 18 57838401 U4/MC4R A/G 0.260 1.06 0.237 1.01 [0.847–1.227] 0.418 ++− 0.060
rs1122608 19 11163601 LDLR G/T 0.770 1.07 0.756 0.87 [0.731–1.048] 0.926 +− 0.380
rs56289821 19 11188247 LDLR G/A 0.900 1.14 0.880 1.10 [0.855–1.427] 0.223 +−+ 0.170
rs12976411 19 32882020 ZNF507 A/T 0.910 1.61 0.958 0.96 [0.639–1.460] 0.564 −+ 0.050
rs8108632 19 41854534 TGFB1 T/A 0.488 1.05 0.445 1.11 [0.938–1.307] 0.113 ++− 0.330
rs2075650 19 45395619 TOMM40 A/G 0.865 0.93 0.869 0.74 [0.596–0.919] 0.003 − 0.870
rs445925 19 45415640 APOE/APOC1 G/A 0.902 1.09 0.893 0.87 [0.681–1.129] 0.844 ++− 0.210
rs4420638 19 45422946 APOE/APOC1 G/A 0.166 1.10 0.171 1.20 [0.985–1.461] 0.034 +−+ 0.530
rs1964272 19 46190268 SNRPD2 G/A 0.510 1.05 0.509 0.95 [0.805–1.113] 0.747 −+ 0.110
rs867186 20 33764554 PROCR G/A 0.110 0.93 0.094 1.26 [0.974–1.623] 0.961 +++ 0.490
rs28451064 21 35593827 KCNE2 A/G 0.121 1.14 0.126 1.36 [1.066–1.751] 0.006 +−+ 0.890
rs180803 22 24658858 POM121L9P G/T 0.970 1.20 0.979 1.18 [0.510–2.743] 0.348 −++ 0.120

aEstimated allele/non estimated allele

bAllele frequency of the estimate allele reported in [14, 24–26]

cOdds ratio for CAD reported in [14, 24–26]

dAllele frequency of the estimated allele in the discovery GWAS of T1D patients

eOdds ratio for CAD [95% confidence interval] observed in the discovery GWAS of T1D patients

fOne sided test p value of association

gDirectionality of the effects across the contributing cohorts

hPower estimates were provided by the CaTS program [23] and correspond to the power of our discovery GWAS to achieve 0.05 statistical significance at the observed associations based on EAFd and ORe under the assumption of a multiplicative model (on log-scale)