Table 2.
Association of RANK, RANKL, and OPG SNPs with syndesmophyte formation in Taiwanese AS patients.
| SNP | Risk allele frequency | Genotype frequency (%) | p trend ∗ | p FDR | Test for the mode of inheritance unadjusted | Test for the mode of inheritance adjusted for sex | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| p | p FDR | OR (95% CI) | p | p FDR | OR (95% CI) | |||||||||
| RANK rs1805034 CT | T | CC | CT | TT | Additive | 0.4892 | 0.7257 | 1.07 (0.89-1.27) | Additive | 0.4265 | 0.5118 | 1.08 (0.9-1.29) | ||
| Syndesmophyte+ | 655 (67.53%) | 53 (10.93%) | 209 (43.09%) | 223 (45.98%) | 0.4908 | 0.7362 | TT + CT vs CC | 0.9067 | 0.9067 | 0.98 (0.67-1.43) | TT + CT vs CC | 0.9552 | 0.9552 | 1.01 (0.69-1.49) |
| Syndesmophyte- | 840 (66.14%) | 68 (10.71%) | 294 (46.3%) | 273 (42.99%) | TT vs CT + CC | 0.3187 | 0.4781 | 1.13 (0.89-1.43) | TT vs CT + CC | 0.3042 | 0.4564 | 1.14 (0.89-1.45) | ||
| C | CC | CT | TT | Additive | 0.3831 | 0.5746 | 1.07 (0.92-1.25) | Additive | 0.2630 | 0.3946 | 1.1 (0.93-1.3) | |||
| Syndesmophyte+ | 315 (32.47%) | 53 (10.93%) | 209 (43.09%) | 223 (45.98%) | 0.4009 | 0.6014 | CC + CT vs TT | 0.4265 | 0.6398 | 1.09 (0.89-1.34) | CC + CT vs TT | 0.3437 | 0.4173 | 1.11 (0.89-1.38) |
| Normal | 881 (30.96%) | 142 (9.98%) | 597 (41.95%) | 684 (48.07%) | CC vs CT + TT | 0.5514 | 0.6617 | 1.11 (0.79-1.54) | CC vs CT + TT | 0.3769 | 0.5557 | 1.18 (0.82-1.68) | ||
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| RANKL rs7984870 CG | G | CC | CG | GG | 0.0976 | 0.1952 | Additive | 0.0891 | 0.1781 | 1.16 (0.98-1.37) | Additive | 0.0724 | 0.1629 | 1.17 (0.99-1.39) |
| Syndesmophyte+ | 542 (55.99%) | 92 (19.01%) | 242 (50%) | 150 (30.99%) | GG + CG vs CC | 0.1385 | 0.296 | 1.25 (0.93-1.67) | GG + CG vs CC | 0.0975 | 0.2494 | 1.29 (0.96-1.74) | ||
| Syndesmophyte- | 661 (52.38%) | 143 (22.66%) | 315 (49.92%) | 173 (27.42%) | GG vs CG + CC | 0.1923 | 0.3847 | 1.19 (0.92-1.54) | GG vs CG + CC | 0.1951 | 0.4148 | 1.19 (0.91-1.56) | ||
| G | CC | CG | GG | Additive | 0.0080 | 0.0164 | 1.22 (1.05-1.41) | Additive | 0.0141 | 0.0351 | 1.21 (1.04-1.42) | |||
| Syndesmophyte+ | 542 (55.99%) | 92 (19.01%) | 242 (50%) | 150 (30.99%) | 0.0083 | 0.022 | GG + CG vs CC | 0.0209 | 0.0563 | 1.35 (1.05-1.75) | GG + CG vs CC | 0.0120 | 0.0325 | 1.42 (1.08-1.86) |
| Normal | 1456 (51.05%) | 344 (24.12%) | 708 (49.65%) | 374 (26.23%) | GG vs CG + CC | 0.0426 | 0.0852 | 1.26 (1.01-1.58) | GG vs CG + CC | 0.1222 | 0.2468 | 1.21 (0.95-1.54) | ||
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| RANKL rs9525641 CT | T | CC | CT | TT | Additive | 0.0776 | 0.1781 | 1.16 (0.98-1.38) | Additive | 0.0814 | 0.1629 | 1.17 (0.98-1.39) | ||
| Syndesmophyte+ | 542 (56.22%) | 92 (19.09%) | 238 (49.38%) | 152 (31.54%) | 0.074 | 0.1952 | TT + CT vs CC | 0.1480 | 0.296 | 1.24 (0.93-1.66) | TT + CT vs CC | 0.1247 | 0.2494 | 1.27 (0.94-1.71) |
| Syndesmophyte- | 662 (52.46%) | 143 (22.66%) | 314 (49.76%) | 174 (27.58%) | TT vs CT + CC | 0.1506 | 0.3847 | 1.21 (0.93-1.57) | TT vs CT + CC | 0.1851 | 0.4148 | 1.2 (0.92-1.56) | ||
| T | CC | CT | TT | Additive | 0.0054 | 0.0164 | 1.23 (1.06-1.43) | Additive | 0.0118 | 0.0351 | 1.22 (1.05-1.42) | |||
| Syndesmophyte+ | 542 (56.22%) | 92 (19.09%) | 238 (49.38%) | 152 (31.54%) | 0.0064 | 0.022 | TT + CT vs CC | 0.0209 | 0.0563 | 1.35 (1.05-1.75) | TT + CT vs CC | 0.0141 | 0.0325 | 1.4 (1.07-1.84) |
| Normal | 1458 (51.01%) | 346 (24.21%) | 708 (49.55%) | 375 (26.24%) | TT vs CT + CC | 0.0247 | 0.0852 | 1.29 (1.03-1.62) | TT vs CT + CC | 0.0888 | 0.2468 | 1.23 (0.97-1.56) | ||
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| RANKL rs9533155 GC | C | GG | GC | CC | 0.0825 | 0.1952 | Additive | 0.0809 | 0.1781 | 1.16 (0.98-1.38) | Additive | 0.0675 | 0.1629 | 1.18 (0.99-1.4) |
| Syndesmophyte+ | 559 (57.75%) | 85 (17.56%) | 239 (49.38%) | 160 (33.06%) | CC + GC vs GG | 0.1264 | 0.296 | 1.27 (0.94-1.71) | CC + GC vs GG | 0.0772 | 0.2494 | 1.32 (0.97-1.8) | ||
| Syndesmophyte- | 682 (54.04%) | 134 (21.24%) | 312 (49.45%) | 185 (29.32%) | CC vs GC + GG | 0.1808 | 0.3847 | 1.19 (0.92-1.53) | CC vs GC + GG | 0.2074 | 0.4148 | 1.18 (0.91-1.54) | ||
| C | GG | GC | CC | Additive | 0.0082 | 0.0164 | 1.22 (1.05-1.41) | Additive | 0.0175 | 0.0351 | 1.21 (1.03-1.41) | |||
| Syndesmophyte+ | 559 (57.75%) | 85 (17.56%) | 239 (49.38%) | 160 (33.06%) | 0.011 | 0.022 | CC + GC vs GG | 0.0282 | 0.0563 | 1.35 (1.03-1.75) | CC + GC vs GG | 0.0163 | 0.0325 | 1.41 (1.07-1.86) |
| Normal | 1508 (52.84%) | 318 (22.28%) | 710 (49.75%) | 399 (27.96%) | CC vs GC + GG | 0.0334 | 0.0852 | 1.27 (1.02-1.59) | CC vs GC + GG | 0.1234 | 0.2468 | 1.2 (0.95-1.52) | ||
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| OPG rs3102735 CT | T | CC | CT | TT | 0.8545 | 0.8545 | Additive | 0.8152 | 0.8152 | 1.03 (0.81-1.31) | Additive | 0.9277 | 0.9277 | 0.99 (0.77-1.26) |
| Syndesmophyte+ | 824 (85.48%) | 12 (2.49%) | 116 (24.07%) | 354 (73.44%) | TT + CT vs CC | 0.2008 | 0.3012 | 0.57 (0.24-1.35) | TT + CT vs CC | 0.1698 | 0.2546 | 0.53 (0.21-1.31) | ||
| Syndesmophyte- | 1076 (85.13%) | 9 (1.42%) | 170 (26.9%) | 453 (71.68%) | TT vs CT + CC | 0.5145 | 0.6174 | 1.09 (0.84-1.42) | TT vs CT + CC | 0.7467 | 0.7467 | 1.05 (0.8-1.37) | ||
| C | CC | CT | TT | Additive | 0.7260 | 0.726 | 1.04 (0.85-1.27) | Additive | 0.4985 | 0.5982 | 1.08 (0.87-1.34) | |||
| Syndesmophyte+ | 140 (14.52%) | 12 (2.49%) | 116 (24.07%) | 354 (73.44%) | 0.7497 | 0.7497 | CC + CT vs TT | 0.7689 | 0.7689 | 1.04 (0.82-1.31) | CC + CT vs TT | 0.5220 | 0.522 | 1.09 (0.85-1.39) |
| Normal | 400 (14.06%) | 32 (2.25%) | 336 (23.63%) | 1054 (74.12%) | CC vs CT + TT | 0.7626 | 0.7626 | 1.11 (0.57-2.16) | CC vs CT + TT | 0.7035 | 0.7035 | 1.15 (0.56-2.36) | ||
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| OPG rs2073618 CG | C | CC | CG | GG | 0.6146 | 0.7375 | Additive | 0.6048 | 0.7257 | 1.05 (0.87-1.28) | Additive | 0.3549 | 0.5118 | 1.1 (0.9-1.34) |
| Syndesmophyte+ | 746 (77.07%) | 290 (59.92%) | 166 (34.3%) | 28 (5.79%) | CC + CG vs GG | 0.6986 | 0.8383 | 1.1 (0.67-1.81) | CC + CG vs GG | 0.4582 | 0.5498 | 1.21 (0.73-2) | ||
| Syndesmophyte- | 959 (76.11%) | 369 (58.57%) | 221 (35.08%) | 40 (6.35%) | CC vs CG + GG | 0.6508 | 0.6508 | 1.06 (0.83-1.34) | CC vs CG + GG | 0.4325 | 0.519 | 1.1 (0.86-1.41) | ||
| C | CC | CG | GG | Additive | 0.5471 | 0.6565 | 1.05 (0.89-1.25) | Additive | 0.7931 | 0.7931 | 1.03 (0.85-1.23) | |||
| Syndesmophyte+ | 746 (77.07%) | 290 (59.92%) | 166 (34.3%) | 28 (5.79%) | 0.5674 | 0.6809 | CC + CG vs GG | 0.6932 | 0.7689 | 0.91 (0.59-1.42) | CC + CG vs GG | 0.3477 | 0.4173 | 0.79 (0.49-1.28) |
| Normal | 2177 (76.12%) | 823 (57.55%) | 531 (37.13%) | 76 (5.31%) | CC vs CG + GG | 0.3621 | 0.5431 | 1.1 (0.89-1.36) | CC vs CG + GG | 0.4631 | 0.5557 | 1.09 (0.87-1.36) | ||
∗ p trend: the p value from the Cochran-Armitage trend test with 100000 permutations.