Table 2 Thirty SNPs associated with SSc in a meta-analysis comparing signals in European and Japanese GWASs
Meta-analysis | JPN | EUR | ||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHR | POS | ID | Type | Gene | EA | NEA | BETA | SE | P-value | Q | I | EAF (case control) | BETA | SE | P-value | EAF | BETA | SE | P-value | |
Primary | ||||||||||||||||||||
1 | 167420425 | rs2045526 | intronic | CD247 | G | T | −0.076 | 0.028 | 2.22E-10 | 0.012 | 84.1 | 0.125 | 0.128 | −0.021 | 0.057 | 0.398 | 0.390 | −0.092 | 0.032 | 1.31E-11 |
1 | 173243581 | rs844663 | ncRNA_intronic | TNFSF4/LOC100506023 | C | T | 0.076 | 0.025 | 4.96E-12 | 0.870 | 0 | 0.281 | 0.242 | 0.079 | 0.043 | 2.13E-05 | 0.276 | 0.075 | 0.032 | 5.05E-08 |
2 | 191959489 | rs4853458 | intronic | STAT4 | A | G | 0.140 | 0.026 | 1.91E-35 | 0.310 | 3.11 | 0.425 | 0.352 | 0.153 | 0.039 | 5.01E-19 | 0.231 | 0.129 | 0.035 | 4.86E-18 |
3 | 28074673 | rs398390 | intergenic | LINC01980-CMC1-EOMES | C | T | 0.048 | 0.020 | 1.66E-08 | 0.846 | 0 | 0.450 | 0.425 | 0.045 | 0.039 | 0.0076 | 0.487 | 0.049 | 0.023 | 6.34E-07 |
3 | 58131515 | rs7355798 | intronic | FLNB | T | C | 0.061 | 0.022 | 3.40E-10 | 0.377 | 0 | 0.076 | 0.066 | 0.088 | 0.073 | 0.0054 | 0.243 | 0.058 | 0.024 | 1.24E-08 |
3 | 119116150 | rs9884090 | intronic | ARHGAP31 | A | G | −0.074 | 0.024 | 6.15E-13 | 0.469 | 0 | 0.281 | 0.311 | −0.062 | 0.042 | 6.96.E-04 | 0.155 | −0.078 | 0.029 | 1.89E-10 |
3 | 159733527 | rs589446 | ncRNA_intronic | IL12A-AS1 | T | G | −0.060 | 0.023 | 8.02E-10 | 0.087 | 65.8 | 0.079 | 0.080 | −0.011 | 0.070 | 0.724 | 0.350 | −0.066 | 0.024 | 1.95E-10 |
4 | 965779 | rs11724804 | intronic | DGKQ | A | G | 0.057 | 0.021 | 1.86E-10 | 0.047 | 74.6 | 0.438 | 0.428 | 0.025 | 0.043 | 0.185 | 0.441 | 0.067 | 0.024 | 5.31E-11 |
4 | 103449041 | rs230534 | intronic | NFKB1 | T | C | 0.063 | 0.021 | 4.02E-12 | 0.775 | 0 | 0.398 | 0.366 | 0.067 | 0.041 | 1.78.E-04 | 0.338 | 0.061 | 0.025 | 5.38E-09 |
5 | 150455732 | rs3792783 | intronic | TNIP1 | G | A | 0.069 | 0.023 | 2.15E-12 | 0.052 | 73.4 | 0.252 | 0.233 | 0.038 | 0.043 | 0.0439 | 0.158 | 0.081 | 0.027 | 2.42E-12 |
6 | 106568034 | rs548234 | intergenic | PRDM1-ATG5 | C | T | 0.071 | 0.025 | 8.06E-11 | 0.198 | 39.7 | 0.378 | 0.334 | 0.088 | 0.039 | 2.17E-07 | 0.314 | 0.059 | 0.034 | 2.86E-05 |
6 | 138195151 | rs5029937 | intronic | TNFAIP3 | T | G | 0.159 | 0.050 | 2.15E-13 | 0.401 | 0 | 0.102 | 0.070 | 0.175 | 0.063 | 1.67E-10 | 0.024 | 0.137 | 0.086 | 1.17E-04 |
6 | 152042260 | rs10484921 | intronic | ESR1 | A | C | 0.060 | 0.024 | 8.30E-09 | 0.083 | 66.6 | 0.150 | 0.124 | 0.095 | 0.053 | 3.58E-05 | 0.243 | 0.051 | 0.028 | 1.20E-05 |
7 | 128573967 | rs4728142 | intergenic | KCP-IRF5 | A | G | 0.092 | 0.027 | 1.61E-15 | 0.006 | 86.6 | 0.142 | 0.105 | 0.148 | 0.054 | 2.83E-10 | 0.449 | 0.074 | 0.031 | 2.24E-08 |
8 | 11343973 | rs2736340 | intergenic | FAM167A-BLK | C | T | −0.095 | 0.020 | 1.06E-26 | 0.832 | 0 | 0.285 | 0.327 | −0.099 | 0.046 | 6.23E-07 | 0.244 | 0.094 | 0.023 | 3.33E-21 |
8 | 61396829 | rs2013112 | intergenic | LINC01301-RAB2A | T | C | −0.049 | 0.018 | 1.05E-09 | 0.611 | 0 | 0.385 | 0.411 | −0.056 | 0.039 | 9.78.E-04 | 0.379 | −0.046 | 0.021 | 2.66E-07 |
11 | 118642085 | rs10892286 | intronic | DDX6 | C | A | −0.066 | 0.024 | 1.31E-10 | 0.053 | 73.3 | 0.115 | 0.123 | −0.020 | 0.060 | 0.447 | 0.201 | −0.075 | 0.026 | 2.12E-11 |
14 | 105407208 | rs11851053 | exonic | AHNAK2* | C | T | −0.053 | 0.032 | 1.70E-11 | 0.000 | 94.2 | 0.322 | 0.380 | −0.116 | 0.042 | 2.81E-11 | 0.466 | −0.037 | 0.056 | 2.27E-05 |
15 | 75077367 | rs1378942 | intronic | CSK | A | C | −0.066 | 0.020 | 9.15E-15 | 0.159 | 49.6 | 0.186 | 0.197 | −0.039 | 0.048 | 0.0626 | 0.387 | −0.071 | 0.022 | 1.84E-14 |
16 | 85971922 | rs11117420 | intergenic | IRF8-LINC01082 | C | G | −0.094 | 0.025 | 1.42E-17 | 0.970 | 0 | 0.096 | 0.119 | −0.095 | 0.065 | 6.97.E-04 | 0.195 | −0.094 | 0.028 | 3.82E-15 |
17 | 38063381 | rs883770 | intronic | GSDMB | T | C | 0.048 | 0.018 | 1.17E-09 | 0.412 | 0 | 0.278 | 0.260 | 0.035 | 0.042 | 0.0564 | 0.498 | 0.051 | 0.021 | 4.79E-09 |
17 | 73224639 | rs1005714 | intronic | NUP85 | G | C | −0.065 | 0.026 | 9.59E-09 | 0.399 | 0 | 0.151 | 0.158 | −0.042 | 0.069 | 0.166 | 0.200 | −0.069 | 0.029 | 1.87E-08 |
19 | 18193191 | rs2305743 | intronic | IL12RB1 | A | G | −0.062 | 0.025 | 2.37E-08 | 0.005 | 87.5 | 0.213 | 0.229 | −0.012 | 0.048 | 0.579 | 0.199 | −0.081 | 0.031 | 4.64E-10 |
20 | 44688665 | rs9074 | UTR3 | SLC12A5** | A | G | 0.050 | 0.021 | 2.21E-08 | 0.826 | 0 | 0.344 | 0.321 | 0.054 | 0.040 | 0.0018 | 0.260 | 0.049 | 0.025 | 3.35E-06 |
Secondary | ||||||||||||||||||||
1 | 173318664 | rs10912594 | ncRNA_intronic | TNFSF4/LOC100506023 | C | G | −0.062 | 0.021 | 6.41E-12 | 0.980 | 0 | 0.309 | 0.329 | −0.062 | 0.050 | 0.002085 | 0.3439 | −0.062 | 0.023 | 8.13E-10 |
2 | 191940451 | rs7601754 | intronic | STAT4 | A | G | −0.072 | 0.027 | 1.14E-09 | 0.155 | 50.6 | 0.136 | 0.180 | −0.102 | 0.058 | 2.03E-05 | 0.1809 | −0.062 | 0.031 | 4.75E-06 |
3 | 58375286 | rs4076852 | intronic | PXK | A | G | 0.051 | 0.021 | 1.25E-08 | 0.036 | 77.3 | 0.262 | 0.255 | 0.014 | 0.049 | 0.463 | 0.2604 | 0.061 | 0.023 | 1.71E-09 |
6 | 106734040 | rs633724 | intronic | ATG5 | T | C | 0.044 | 0.018 | 2.48E-08 | 0.257 | 22.1 | 0.504 | 0.492 | 0.028 | 0.040 | 0.0858 | 0.3549 | 0.049 | 0.021 | 5.87E-08 |
7 | 128722514 | rs17340646 | intergenic | TPI1P2-LOC407835 | G | T | 0.080 | 0.033 | 1.94E-08 | 0.830 | 0 | 0.0181 | 0.0175 | 0.097 | 0.204 | 0.241 | 0.2078 | 0.079 | 0.033 | 3.84E-08 |
Tertiary | ||||||||||||||||||||
2 | 191534372 | rs16832798 | intronic | NAB1 | C | T | 0.050 | 0.023 | 5.15E-07 | 0.2394 | 27.8 | 0.499 | 0.490 | 0.034 | 0.040 | 0.0377 | 0.1481 | 0.059 | 0.029 | 2.37E-06 |