Table 1 Genotypes and alleles frequencies of vitamin D pathway genes in PTB patients and normal controls
SNP | Analyze model | PTB (N = 490) n (%) | Control (N = 489) n (%) | P value * | OR (95% CI) | |
|---|---|---|---|---|---|---|
CYP24A1 | ||||||
 rs2248359 | Genotypes | TT | 73 (14.90) | 66 (13.50) | 0.660 | 0.941 (0.717, 1.235) |
| Â | Â | CT | 235 (47.96) | 232 (47.44) | 0.454 | 0.862 (0.583, 1.272) |
| Â | Â | CC | 182 (37.14) | 191 (39.06) | Reference | |
| Â | Alleles | T | 381 (38.88) | 364 (37.22) | 0.450 | 0.932 (0.777, 1.119) |
| Â | Â | C | 599 (61.12) | 614 (62.78) | Reference | |
| Â | Dominant model | CC | 182 (37.14) | 191 (39.06) | 0.537 | 1.031 (0.935, 1.138) |
| Â | Â | CT+TT | 308 (62.86) | 298 (60.94) | Reference | |
| Â | Recessive model | TT | 73 (14.90) | 66 (13.50) | 0.530 | 0.984 (0.935, 1.035) |
| Â | Â | CT+CC | 417 (85.10) | 423 (86.50) | Reference | |
 rs2296241 | Genotypes | AA | 81 (16.53) | 83 (16.97) | 0.972 | 1.007 (0.693, 1.462) |
| Â | Â | GA | 242 (49.39) | 236 (48.26) | 0.763 | 0.958 (0.725, 1.266) |
| Â | Â | GG | 167 (34.08) | 170 (34.77) | Reference | |
| Â | Alleles | A | 404 (41.22) | 402 (41.10) | 0.957 | 1.003 (0.902, 1.115) |
| Â | Â | G | 576 (58.78) | 576 (58.90) | Reference | |
| Â | Dominant model | GG | 167 (34.08) | 170 (34.77) | 0.822 | 0.980 (0.825, 1.165) |
| Â | Â | AA+GA | 323 (65.92) | 319 (65.23) | Reference | |
| Â | Recessive model | AA | 81 (16.53) | 83 (16.97) | 0.853 | 1.005 (0.950, 1.063) |
| Â | Â | GG+GA | 409 (83.47) | 406 (83.03) | Reference | |
 rs927650 | Genotypes | TT | 37 (7.55) | 32 (6.54) | 0.704 | 0.950 (0.729, 1.238) |
| Â | Â | TC | 186 (37.96) | 182 (37.22) | 0.495 | 0.840 (0.508, 1.388) |
| Â | Â | CC | 267 (54.59) | 275 (56.24) | Reference | |
| Â | Alleles | T | 260 (26.53) | 246 (25.15) | 0.486 | 0.982 (0.932, 1.034) |
| Â | Â | C | 720 (73.47) | 732 (74.85) | Reference | |
| Â | Dominant model | CC | 267 (54.48) | 275 (56.24) | 0.582 | 1.040 (0.904, 1.196) |
| Â | Â | TT+TC | 223 (45.51) | 214 (43.76) | Reference | |
| Â | Recessive model | TT | 37 (7.55) | 32 (6.54) | 0.538 | 0.989 (0.956, 1.024) |
| Â | Â | CC+TC | 453 (92.45) | 457 (93.46) | Reference | |
 rs6013897 | Genotypes | AA | 8 (1.63) | 15 (3.07) | 1.150 | 1.897 (0.794, 4.532) |
| Â | Â | TA | 135 (27.55) | 131 (26.79) | 0.898 | 0.982 (0.740, 1.303) |
| Â | Â | TT | 347 (70.82) | 343 (70.14) | Reference | |
| Â | Alleles | A | 151 (15.41) | 161 (16.46) | 0.524 | 1.013 (0.974, 1.052) |
| Â | Â | T | 829 (84.59) | 817 (83.54) | Reference | |
| Â | Dominant model | TT | 347 (70.82) | 343 (70.14) | 0.817 | 0.977 (0.805, 1.186) |
| Â | Â | AA+TA | 143 (29.18) | 146 (29.86) | Reference | |
| Â | Recessive model | AA | 8 (1.63) | 15 (3.07) | 0.138 | 1.015 (0.995, 1.035) |
| Â | Â | TT+TA | 482 (98.37) | 474 (96.93) | Reference | |
CYP27A1 | Â | Â | ||||
 rs17470271 | Genotypes | TT | 2 (0.41) | 6 (1.23) | 0.407 | 0.861 (0.605, 1.225) |
| Â | Â | AT | 78 (15.92) | 68 (13.91) | 0.185 | 2.964 (0.595, 14.770) |
| Â | Â | AA | 410 (83.67) | 415 (84.87) | Reference | |
| Â | Alleles | T | 82 (8.37) | 80 (8.18) | 0.880 | 0.998 (0.972, 1.025) |
| Â | Â | A | 898 (91.63) | 898 (91.82) | Reference | |
| Â | Dominant model | AA | 410 (83.67) | 415 (84.87) | 0.608 | 1.079 (0.807, 1.442) |
| Â | Â | TT+AT | 80 (16.33) | 74 (15.13) | Reference | |
| Â | Recessive model | TT | 2 (0.41) | 6 (1.23) | 0.155 | 0.333 (0.067, 1.640) |
| Â | Â | AA+AT | 488 (99.59) | 483 (98.77) | Reference | |
 rs933994 | Genotypes | TT | 17 (3.47) | 10 (2.05) | 0.159 | 0.565 (0.255, 1.251) |
| Â | Â | CT | 132 (26.94) | 124 (25.36) | 0.482 | 0.902 (0.677, 1.202) |
| Â | Â | CC | 341 (69.59) | 355 (72.60) | Reference | |
| Â | Alleles | T | 166 (16.94) | 144 (14.72) | 0.179 | 0.974 (0.937, 1.012) |
| Â | Â | C | 814 (83.06) | 834 (85.28) | Reference | |
| Â | Dominant model | CC | 341 (69.59) | 355 (72.60) | 0.300 | 1.110 (0.911, 1.351) |
| Â | Â | TT+CT | 149 (30.41) | 134 (27.40) | Reference | |
| Â | Recessive model | TT | 17 (3.47) | 10 (2.05) | 0.174 | 0.985 (0.965, 1.006) |
| Â | Â | CC+CT | 473 (96.53) | 479 (97.95) | Reference | |
 rs4646536 | Genotypes | AA | 65 (13.27) | 67 (13.70) | 0.851 | 0.963 (0.651, 1.425) |
| Â | Â | AG | 226 (46.12) | 209 (42.74) | 0.288 | 0.864 (0.660, 1.131) |
| Â | Â | GG | 199 (40.61) | 213 (43.56) | Reference | |
| Â | Alleles | A | 356 (36.33) | 343 (35.07) | 0.562 | 0.981 (0.918, 1.048) |
| Â | Â | G | 624 (63.67) | 635 (64.93) | Reference | |
| Â | Dominant model | GG | 199 (40.61) | 213 (43.56) | 0.351 | 1.052 (0.946, 1.171) |
| Â | Â | AA+AG | 291 (59.39) | 276 (56.44) | Reference | |
| Â | Recessive model | AA | 65 (13.27) | 67 (13.70) | 0.842 | 0.968 (0.705, 1.330) |
| Â | Â | GG+AG | 425 (86.73) | 422 (86.30) | Reference | |
CYP2R1 | Â | |||||
 rs12794714 | Genotypes | AA | 67 (13.67) | 55 (11.25) | 0.222 | 0.775 (0.514, 1.167) |
| Â | Â | GA | 239 (48.78) | 239 (48.88) | 0.673 | 0.944 (0.721, 1.236) |
| Â | Â | GG | 184 (37.55) | 195 (39.88) | Reference | |
| Â | Alleles | A | 373 (38.06) | 349 (35.69) | 0.276 | 0.963 (0.900, 1.031) |
| Â | Â | G | 607 (61.94) | 629 (64.31) | Reference | |
| Â | Dominant model | GG | 184 (37.55) | 195 (39.88) | 0.455 | 1.039 (0.940, 1.147) |
| Â | Â | AA+GA | 306 (62.45) | 294 (60.12) | Reference | |
| Â | Recessive model | AA | 67 (13.67) | 55 (11.25) | 0.251 | 0.973 (0.928, 1.020) |
| Â | Â | GG+GA | 423 (86.33) | 434 (88.75) | Reference | |
 rs10741657 | Genotypes | AA | 72 (14.69) | 68 (13.91) | 0.856 | 1.036 (0.704, 1.526) |
| Â | Â | AG | 215 (43.88) | 236 (48.26) | 0.180 | 1.204 (0.918, 1.581) |
| Â | Â | GG | 203 (41.43) | 185 (37.83) | Reference | |
| Â | Alleles | A | 359 (36.63) | 372 (38.04) | 0.521 | 1.023 (0.955, 1.095) |
| Â | Â | G | 621 (63.37) | 606 (61.96) | Reference | |
| Â | Dominant model | GG | 203 (41.43) | 185 (37.83) | 0.250 | 0.942 (0.851, 1.043) |
| Â | Â | AA+AG | 287 (58.57) | 304 (62.17) | Reference | |
| Â | Recessive model | AA | 72 (14.69) | 68 (13.91) | 0.725 | 1.057 (0.777, 1.436) |
| Â | Â | GG+AG | 418 (85.31) | 421 (86.09) | Reference | |
 rs7935792 | Genotypes | CC | 10 (2.04) | 6 (1.23) | 0.286 | 0.574 (0.206, 1.594) |
| Â | Â | AC | 111 (22.65) | 97 (19.84) | 0.252 | 0.835 (0.614, 1.136) |
| Â | Â | AA | 369 (75.31) | 386 (78.94) | Reference | |
| Â | Alleles | C | 131 (13.67) | 109 (11.15) | 0.134 | 0.975 (0.943, 1.008) |
| Â | Â | A | 849 (86.63) | 869 (88.85) | Reference | |
| Â | Dominant model | AA | 369 (75.31) | 386 (78.94) | 0.176 | 1.172 (0.931, 1.477) |
| Â | Â | CC+AC | 121 (24.69) | 103 (21.06) | Reference | |
| Â | Recessive model | CC | 10 (2.04) | 6 (1.23) | 0.315 | 0.992 (0.976, 1.008) |
| Â | Â | AA+AC | 480 (97.96) | 483 (98.77) | Reference | |
 rs1562902 | Genotypes | CC | 84 (17.14) | 86 (17.59) | 0.799 | 1.049 (0.724, 1.521) |
| Â | Â | CT | 242 (49.39) | 243 (49.69) | 0.841 | 1.029 (0.777, 1.364) |
| Â | Â | TT | 164 (33.47) | 160 (32.72) | Reference | |
| Â | Alleles | C | 410 (41.84) | 415 (42.43) | 0.789 | 1.010 (0.937, 1.090) |
| Â | Â | T | 570 (58.16) | 563 (57.57) | Reference | |
| Â | Dominant model | TT | 164 (33.47) | 160 (32.72) | 0.803 | 0.989 (0.905, 1.080) |
| Â | Â | CC+CT | 326 (66.53) | 329 (67.28) | Reference | |
| Â | Recessive model | CC | 84 (17.14) | 86 (17.59) | 0.854 | 1.005 (0.949, 1.065) |
| Â | Â | TT+CT | 406 (82.86) | 403 (82.41) | Reference | |
GC | ||||||
 rs7041 | Genotypes | CC | 23 (4.69) | 31 (6.34) | 0.203 | 1.443 (0.821, 2.537) |
| Â | Â | AC | 178 (36.33) | 188 (38.45) | 0.362 | 1.131 (0.868, 1.472) |
| Â | Â | AA | 289 (58.98) | 270 (55.22) | Reference | |
| Â | Alleles | C | 224 (22.86) | 250 (25.56) | 0.162 | 1.036 (0.986, 1.090) |
| Â | Â | A | 756 (77.14) | 728 (74.44) | Reference | |
| Â | Dominant model | AA | 289 (58.98) | 270 (55.22) | 0.234 | 0.916 (0.792, 1.059) |
| Â | Â | CC+AC | 201 (41.02) | 219 (44.78) | Reference | |
| Â | Recessive model | CC | 23 (4.69) | 31 (6.34) | 0.259 | 1.018 (0.987, 1.049) |
| Â | Â | AA+AC | 467 (95.31) | 458 (93.66) | Reference | |
 rs3733359 | Genotypes | AA | 50 (10.20) | 53 (10.84) | 0.238 | 1.296 (0.843, 1.994) |
| Â | Â | GA | 204 (41.63) | 243 (49.69) | 0.006 | 1.457 (1.116, 1.901) |
| Â | Â | GG | 236 (48.16) | 193 (39.47) | Reference | |
| Â | Alleles | A | 304 (31.02) | 349 (35.69) | 0.029 | 1.073 (1.007, 1.142) |
| Â | Â | G | 676 (68.98) | 629 (64.31) | Reference | |
| Â | Dominant model | GG | 236 (48.16) | 193 (39.47) | 0.006 | 0.856 (0.766, 0.957) |
| Â | Â | AA+GA | 254 (51.84) | 296 (60.53) | Reference | |
| Â | Recessive model | AA | 50 (10.20) | 53 (10.84) | 0.746 | 1.007 (0.985, 1.051) |
| Â | Â | GG+GA | 440 (89.80) | 436 (89.16) | Reference | |
 rs16847024 | Genotypes | TT | 13 (2.65) | 11 (2.25) | 0.889 | 0.943 (0.417, 2.134) |
| Â | Â | CT | 99 (20.20) | 139 (28.43) | 0.003 | 1.566 (1.164, 2.106) |
| Â | Â | CC | 378 (77.14) | 339 (69.32) | Reference | |
| Â | Alleles | T | 125 (12.76) | 161 (16.46) | 0.020 | 0.775 (0.624, 0.962) |
| Â | Â | C | 855 (87.24) | 817 (83.54) | Reference | |
| Â | Dominant model | CC | 378 (77.14) | 339 (69.32) | 0.006 | 1.113 (1.031, 1.201) |
| Â | Â | TT+CT | 112 (22.86) | 150 (30.68) | Reference | |
| Â | Recessive model | TT | 13 (2.65) | 11 (2.25) | 0.583 | 0.996 (0.976, 1.016) |
| Â | Â | CC+CT | 477 (97.35) | 478 (97.75) | Reference | |
 rs4588 | Genotypes | TT | 43 (8.78) | 53 (10.84) | 0.873 | 1.037 (0.664, 1.620) |
| Â | Â | GT | 256 (52.24) | 209 (42.74) | 0.006 | 0.687 (0.527, 0.896) |
| Â | Â | GG | 191 (38.98) | 227 (46.42) | Reference | |
| Â | Alleles | T | 342 (34.90) | 315 (32.21) | 0.208 | 1.083 (0.956, 1.228) |
| Â | Â | G | 638 (65.10) | 663 (67.79) | Reference | |
| Â | Dominant model | GG | 191 (38.98) | 227 (46.42) | 0.019 | 0.840 (0.726, 0.972) |
| Â | Â | TT+GT | 299 (61.02) | 262 (53.58) | Reference | |
| Â | Recessive model | TT | 143 (29.18) | 53 (10.84) | 0.278 | 1.023 (0.982, 1.066) |
| Â | Â | GG+GT | 447 (91.22) | 436 (89.16) | Reference | |
DHCR7 | ||||||
 rs12785878 | Genotypes | TT | 108 (22.04) | 102 (20.86) | 0.814 | 1.044 (0.730, 1.493) |
| Â | Â | GT | 235 (47.96) | 254 (51.94) | 0.236 | 1.195 (0.890, 1.603) |
| Â | Â | GG | 147 (30.00) | 133 (27.20) | Reference | |
| Â | Alleles | T | 451 (46.02) | 458 (46.83) | 0.719 | 1.015 (0.935, 1.103) |
| Â | Â | G | 529 (53.98) | 520 (53.17) | Reference | |
| Â | Dominant model | GG | 147 (30.00) | 133 (27.20) | 0.332 | 0.962 (0.888, 1.041) |
| Â | Â | TT+GT | 343 (70.00) | 356 (72.80) | Reference | |
| Â | Recessive model | TT | 108 (22.04) | 102 (20.86) | 0.652 | 1.057 (0.831, 1.343) |
| Â | Â | GG+GT | 382 (77.96) | 387 (79.14) | Reference | |
 rs3829251 | Genotypes | AA | 48 (9.80) | 42 (8.59) | 0.363 | 0.811 (0.516, 1.274) |
| Â | Â | GA | 215 (4.88) | 202 (41.31) | 0.302 | 0.871 (0.669, 1.133) |
| Â | Â | GG | 227 (46.33) | 245 (50.10) | Reference | |
| Â | Alleles | A | 311 (31.73) | 286 (29.24) | 0.231 | 0.965 (0.910, 1.023) |
| Â | Â | G | 669 (68.27) | 692 (70.76) | Reference | |
| Â | Dominant model | GG | 227 (46.33) | 245 (50.10) | 0.237 | 1.076 (0.953, 1.214) |
| Â | Â | AA+GA | 263 (53.67) | 244 (49.90) | Reference | |
| Â | Recessive model | AA | 48 (9.80) | 42 (8.59) | 0.513 | 0.987 (0.948, 1.027) |
| Â | Â | GG+GA | 442 (90.20) | 447 (91.41) | Reference | |