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. 2018 Jun 15;102(9):1308–1314. doi: 10.1136/bjophthalmol-2017-311753

Table 3.

Main effects of tested SNPs on BD risk

Nearest gene(s) SNP Stage Genotype/allele Case freq Control freq P values Pc values OR (95% CI) Statistical power
CEBPB- PTPN1 rs913678 Stage1 CC 251 0.526 280 0.423 5.69E−04 3.75E−02 1.515 (1.196 to 1.920) 0.998
CT 186 0.390 303 0.458 2.26E−02 NS 0.757 (0.596 to 0.962)
TT 40 0.084 79 0.119 0.054 0.675 (0.453 to 1.008)
C 688 0.721 863 0.652 4.59E−04 1.01E−02 1.382 (1.153 to 1.656)
Stage2 CC 405 0.534 379 0.476 2.35E−02 NS 1.259 (1.031 to 1.536)
CT 297 0.391 337 0.423 0.198 0.876 (0.715 to 1.072)
TT 57 0.075 80 0.101 0.077 0.727 (0.509 to 1.037)
C 1107 0.729 1095 0.688 1.11E−02 4.43E−02 1.222 (1.047 to 1.428)
Combined CC 656 0.531 659 0.452 4.60E−05 3.04E−03 1.371 (1.178 to 1.596)
CT 483 0.391 640 0.439 1.15E−02 NS 0.820 (0.703 to 0.956)
TT 97 0.078 159 0.109 7.01E−03 NS 0.696 (0.534 to 0.907)
C 1795 0.726 1958 0.671 1.37E−05 3.01E−04 1.297 (1.154 to 1.459)
LACC1 rs9316059 Stage1 TT 17 0.036 56 0.085 7.87E−04 5.19E−02 0.397 (0.228 to 0.692) 0.970
TA 170 0.357 292 0.445 2.95E−03 NS 0.693 (0.543 to 0.883)
AA 289 0.607 308 0.470 4.68E−06 3.09E−04 1.746 (1.374 to 2.219)
T 204 0.214 404 0.308 6.96E−07 1.53E−05 0.613 (0.505 to 0.744)
Stage2 TT 46 0.061 62 0.078 0.176 0.762 (0.513 to 1.131)
TA 260 0.342 334 0.420 1.55E−03 1.86E−02 0.718 (0.584 to 0.882)
AA 454 0.597 399 0.502 1.56E−04 1.87E−03 1.473 (1.205 to 1.808)
T 352 0.232 458 0.288 3.35E−04 1.34E−03 0.745 (0.634 to 0.875)
Combined TT 63 0.051 118 0.081 1.76E−03 NS 0.607 (0.442 to 0.832)
TA 430 0.348 626 0.431 9.95E−06 6.56E−04 0.703 (0.601 to 0.822)
AA 743 0.601 707 0.487 3.57E−09 2.36E−07 1.586 (1.360 to 1.849)
T 556 0.225 862 0.297 2.25E−09 4.95E−08 0.687 (0.607 to 0.777)
RIPK2 rs10094579 Stage1 AA 29 0.061 30 0.045 0.246 1.336 (0.806 to 2.302) 0.996
CA 205 0.431 228 0.345 3.52E−03 NS 1.433 (1.125 to 1.826)
CC 242 0.508 402 0.609 7.27E−04 4.80E−02 0.664 (0.523 to 0.842)
A 263 0.276 288 0.218 1.44E−03 3.16E−02 1.368 (1.128 to 1.659)
Stage2 AA 58 0.077 47 0.059 0.157 1.332 (0.895 to 1.984)
CA 294 0.393 273 0.344 4.95E−02 NS 1.231 (1.000 to 1.514)
CC 397 0.530 473 0.596 8.56E−03 NS 0.763 (0.624 to 0.934)
A 410 0.274 367 0.231 6.84E−03 2.74E−02 1.252 (1.064 to 1.473)
Combined AA 87 0.071 77 0.053 0.053 1.366 (0.995 to 1.875)
CA 499 0.407 501 0.345 8.58E−04 NS 1.306 (1.116 to 0.528)
CC 639 0.522 875 0.602 2.79E−05 1.84E−03 0.720 (0.618 to 0.840)
A 673 0.275 655 0.225 3.15E−05 6.93E−04 1.302 (1.149 to 1474)
ADO- EGR2 rs224127 Stage1 GG 67 0.140 121 0.185 4.40E−02 NS 0.717 (0.518 to 0.992) 0.985
GA 217 0.454 324 0.496 0.161 0.844 (0.666 to 1.070)
AA 194 0.406 208 0.319 2.44E−03 NS 1.461 (1.143 to 1.869)
A 605 0.636 740 0.567 1.53E−03 3.36E−02 1.318 (1.111 to 1.564)
Stage2 GG 90 0.118 135 0.170 3.73E−03 4.48E−02 0.655 (0.491 to 0.873)
GA 366 0.482 378 0.477 0.847 1.020 (0.836 to 1.245)
AA 304 0.400 280 0.353 5.64E−02 1.221 (0.994 to 1.500)
A 974 0.641 938 0.591 4.70E−03 1.88E−02 1.232 (1.066 to 1.425)
Combined GG 157 0.127 256 0.177 3.25E−04 2.14E−02 0.675 (0.544 to 0.837)
GA 583 0.471 702 0.485 0.452 0.943 (0.810 to 1.098)
AA 498 0.402 488 0.337 5.20E−04 3.43E−02 1.321 (1.129 to 1.546)
A 1579 0.638 1678 0.580 1.71E−05 3.77E−04 1.274 (1.141 to 1.422)

Statistical power was estimated from effect size in the original Turkish data sets, allele frequency and sample size in the Chinese Han population.

BD, Behcet’s disease; pc value, the Bonferroni corrected p value; NS, not significant; SNP, single nucleotide polymorphism.