Genotype and allele frequencies of PTPN2 and CD122 genes in ocular BD
Gene | SNPs | Stage | Genotype allele | BD | Controls | P value | Pc value | OR | 95% CI | ||
N | % | N | % | ||||||||
PTPN2 | rs7234029 | First | A | 522 | 0.696 | 827 | 0.691 | 0.833 | NS | 1.022 | 0.838 to 1.245 |
AA | 166 | 0.443 | 296 | 0.495 | 0.112 | NS | 0.81 | 0.625 to 1.050 | |||
AG | 190 | 0.507 | 235 | 0.393 | 5.02×10−4 | 2.16×10−2 | 1.586 | 1.222 to 2.059 | |||
GG | 19 | 0.051 | 67 | 0.112 | 1.03×10−3 | 4.43×10−2 | 0.423 | 0.250 to 0.716 | |||
Replication | A | 746 | 0.702 | 2266 | 0.717 | 0.361 | NS | 0.931 | 0.800 to 1.085 | ||
AA | 234 | 0.441 | 806 | 0.51 | 0.006 | NS | 0.757 | 0.621 to 0.922 | |||
AG | 278 | 0.524 | 654 | 0.414 | 1.08×10−5 | 4.64×10−4 | 1.556 | 1.277 to 1.896 | |||
GG | 19 | 0.036 | 120 | 0.076 | 1.24×10−3 | 5.33×10−2 | 0.451 | 0.275 to 0.740 | |||
Combined | A | 1268 | 0.7 | 3093 | 0.71 | 0.419 | NS | 0.952 | 0.844 to 1.073 | ||
AA | 400 | 0.442 | 1102 | 0.506 | 1.10×10−3 | 4.73×10−2 | 0.772 | 0.661 to 0.902 | |||
AG | 468 | 0.517 | 889 | 0.408 | 3.33×10−8 | 1.43×10−6 | 1.549 | 1.326 to 1.810 | |||
GG | 38 | 0.042 | 187 | 0.086 | 1.94×10−5 | 8.34×10−4 | 0.466 | 0.326 to 0.667 | |||
rs1893217 | First | C | 129 | 0.172 | 188 | 0.163 | 0.626 | NS | 1.063 | 0.831 to 1.359 | |
CC | 6 | 0.016 | 16 | 0.028 | 0.236 | NS | 0.568 | 0.220 to 1.465 | |||
CT | 117 | 0.312 | 156 | 0.271 | 0.175 | NS | 1.218 | 0.916 to 1.621 | |||
TT | 252 | 0.672 | 403 | 0.701 | 0.347 | NS | 0.874 | 0.661 to 1.157 | |||
rs657555 | First | C | 230 | 0.307 | 327 | 0.283 | 0.264 | NS | 1.121 | 0.917 to 1.371 | |
CC | 27 | 0.072 | 51 | 0.088 | 0.372 | NS | 0.802 | 0.493 to 1.303 | |||
CT | 176 | 0.469 | 225 | 0.389 | 0.014 | NS | 1.388 | 1.067 to 1.805 | |||
TT | 172 | 0.459 | 302 | 0.522 | 0.054 | NS | 0.774 | 0.597 to 1.005 | |||
rs2542151 | First | G | 136 | 0.181 | 197 | 0.165 | 0.352 | NS | 1.121 | 0.881 to 1.426 | |
GG | 12 | 0.032 | 20 | 0.034 | 0.898 | NS | 0.954 | 0.461 to 1.974 | |||
GT | 112 | 0.299 | 157 | 0.263 | 0.226 | NS | 1.193 | 0.896 to 1.589 | |||
TT | 251 | 0.669 | 420 | 0.704 | 0.262 | NS | 0.853 | 0.646 to 1.126 | |||
rs478582 | First | C | 125 | 0.167 | 216 | 0.187 | 0.273 | NS | 0.873 | 0.685 to 1.113 | |
CC | 12 | 0.032 | 19 | 0.033 | 0.947 | NS | 0.975 | 0.468 to 2.033 | |||
CT | 101 | 0.27 | 178 | 0.308 | 0.21 | NS | 0.831 | 0.623 to 1.110 | |||
TT | 261 | 0.698 | 381 | 0.659 | 0.213 | NS | 1.194 | 0.903 to 1.580 | |||
CD122 | rs228941 | First | C | 252 | 0.342 | 414 | 0.353 | 0.628 | NS | 0.953 | 0.785 to 1.157 |
CC | 40 | 0.109 | 64 | 0.109 | 0.98 | NS | 0.995 | 0.655 to 1.512 | |||
CG | 172 | 0.467 | 286 | 0.488 | 0.534 | NS | 0.921 | 0.709 to 1.195 | |||
GG | 156 | 0.424 | 236 | 0.403 | 0.517 | NS | 1.091 | 0.838 to 1.422 | |||
rs743777 | First | A | 659 | 0.879 | 1082 | 0.905 | 0.069 | NS | 0.763 | 0.570 to 1.022 | |
AA | 285 | 0.76 | 488 | 0.816 | 0.035 | NS | 0.714 | 0.521 to 0.978 | |||
AG | 89 | 0.237 | 106 | 0.177 | 0.023 | NS | 1.444 | 1.052 to 1.984 | |||
GG | 1 | 0.003 | 4 | 0.007 | 0.362 | NS | 0.397 | 0.044 to 3.566 | |||
rs3218253 | First | C | 686 | 0.92 | 1100 | 0.932 | 0.298 | NS | 0.832 | 0.587 to 1.178 | |
CC | 313 | 0.839 | 510 | 0.864 | 0.279 | NS | 0.818 | 0.569 to 1.177 | |||
CT | 60 | 0.161 | 80 | 0.136 | 0.279 | NS | 0.818 | 0.569 to 1.177 | |||
rs743776 | First | C | 103 | 0.138 | 118 | 0.099 | 0.007 | NS | 1.468 | 1.107 to 1.946 | |
CC | 5 | 0.013 | 3 | 0.005 | 0.158 | NS | 2.702 | 0.642 to 11.373 | |||
CT | 93 | 0.25 | 112 | 0.187 | 0.02 | NS | 1.446 | 1.059 to 1.976 | |||
TT | 274 | 0.737 | 483 | 0.808 | 0.009 | NS | 0.666 | 0.489 to 0.905 | |||
rs2284033 | First | A | 480 | 0.647 | 743 | 0.623 | 0.296 | NS | 1.107 | 0.915 to 1.340 | |
AA | 159 | 0.429 | 239 | 0.401 | 0.397 | NS | 1.12 | 0.861 to 1.457 | |||
AG | 162 | 0.437 | 265 | 0.445 | 0.808 | NS | 0.968 | 0.746 to 1.257 | |||
GG | 50 | 0.135 | 92 | 0.154 | 0.403 | NS | 0.853 | 0.588 to 1.237 | |||
rs9622555 | First | G | 654 | 0.872 | 1054 | 0.887 | 0.313 | NS | 0.866 | 0.655 to 1.146 | |
GG | 282 | 0.752 | 464 | 0.781 | 0.294 | NS | 0.85 | 0.627 to 1.152 | |||
GT | 90 | 0.24 | 126 | 0.212 | 0.31 | NS | 1.173 | 0.862 to 1.596 | |||
TT | 3 | 0.008 | 4 | 0.007 | 0.821 | NS | 1.19 | 0.265 to 5.345 |
BD, Behcet’s disease; NS, non-significant.