From: Analysis of variants in DNA damage signalling genes in bladder cancer
SNP rs number, function, allele substitution | Control minor allele frequency (published)* | No of rare alleles | Number of Cases | Number of Controls | Unadjusted OR (95% CI) | p value for un-adjusted OR | Adjusted OR (95% CI) | p value for adjusted OR |
---|---|---|---|---|---|---|---|---|
NBS1 | Â | Â | Â | Â | Â | Â | Â | Â |
rs1448 3'UTR A/G | 0.06 (0.189) | 0 | 670 (89.0) | 695 (89.1) | 1 | Â | 1 | Â |
 |  | 1 | 81 (10.8) | 85 (10.9) | 0.99 (0.71–1.36) | 0.94 | 0.98 (0.71–1.37) | 0.91 |
 |  | 2 | 2 (0.3) | 0 (0) | NDa |  | ND |  |
rs9995 3'UTR A/G | 0.31 (0.36) | 0 | 334 (44.2) | 373 (47.5) | 1 | Â | 1 | Â |
 |  | 1 | 347 (46.0) | 332 (42.3) | 1.17 (0.95–1.44) | 0.15 | 1.16 (0.94–1.44) | 0.17 |
 |  | 2 | 74 (9.8) | 80 (10.2) | 1.03 (0.73–1.40) | 0.86 | 1.04 (0.73–1.48) | 0.85 |
rs13312986 3'UTR A/G | 0.01 (0.067) | 0 | 717 (95.1) | 765 (97.3) | 1 | Â | 1 | Â |
 |  | 1 | 36 (4.8) | 21 (2.7) | 1.83 (1.06–3.16) | 0.02 | 1.72 (0.99–3.02) | 0.06 |
 |  | 2 | 1 (0.1) | 0 (0) | ND |  | ND |  |
rs1063054 3'UTR T/G | 0.31 (0.33) | 0 | 329 (44.3) | 374 (47.8) | 1 | Â | 1 | Â |
 |  | 1 | 340 (45.8) | 330 (42.2) | 1.17 (0.95–1.45) | 0.14 | 1.15 (0.93–1.44) | 0.18 |
 |  | 2 | 74 (10.0) | 79 (10.1) | 1.06 (0.75–1.51) | 0.73 | 1.06 (0.75–1.53) | 0.71 |
rs13312981 3'UTR A/G | 0.006 (0.034) | 0 | 751 (99.6) | 771 (98.7) | 1 | Â | 1 | Â |
 |  | 1 | 3 (0.4) | 10 (1.3) | 0.31 (0.08–1.12) | 0.05 | 0.35 (0.09–1.27) | 0.11 |
 |  | 2 | 0 (0) | 0 (0) | ND |  | ND |  |
rs2735383 3'UTR G/C | 0.32 (0.335) | 0 | 328 (44.6) | 363 (47.1) | 1 | Â | 1 | Â |
 |  | 1 | 336 (45.7) | 326 (42.3) | 1.14 (0.92–1.41) | 0.23 | 1.14 (0.92–1.41) | 0.27 |
 |  | 2 | 72 (9.8) | 81 (10.5) | 0.98 (0.69–1.40) | 0.93 | 0.98 (0.69–1.40) | 0.93 |
rs1063053 3'UTR C/T | 0.32 (0.312) | 0 | 331 (44.4) | 370 (47.2) | 1 | Â | 1 | Â |
 |  | 1 | 340 (45.6) | 334 (42.6) | 1.14 (0.92–1.41) | 0.23 | 1.13 (0.92–1.41) | 0.25 |
 |  | 2 | 74 (9.9) | 80 (10.2) | 1.03 (0.72–1.47) | 0.85 | 1.04 (0.73–1.49) | 0.83 |
rs1805794 NS G/C Glu185Gln | 0.31 (0.306) | 0 | 347 (46.4) | 375 (47.6) | 1 | Â | 1 | Â |
 |  | 1 | 332 (44.4) | 330 (41.9) | 1.08 (0.88–1.34) | 0.44 | 1.06 (0.86–1.32) | 0.57 |
 |  | 2 | 69 (9.2) | 83 (10.5) | 0.89 (0.63–1.28) | 0.55 | 0.93 (0.65–1.33) | 0.68 |
rs769420 NS G/A Leu266Pro | 0.001 (0.033) | 0 | 756 (99.7) | 782 (99.7) | 1 | Â | 1 | Â |
 |  | 1 | 2 (0.3) | 2 (0.3) | 1.03 (0.15–7.36) | 0.97 | 1.04 (0.14–7.54) | 0.97 |
 |  | 2 | 0 (0) | 0 (0) | ND |  | ND |  |
MRE11 | Â | Â | Â | Â | Â | Â | Â | Â |
rs2155209 3'UTR A/G | 0.34 (0.27) | 0 | 306 (41.0) | 324 (41.9) | 1 | Â | 1 | Â |
 |  | 1 | 325 (43.6) | 367 (47.5) | 0.93 (0.76–1.16) | 0.50 | 0.90 (0.72–1.12) | 0.34 |
 |  | 2 | 115 (15.4) | 82 (10.6) | 1.48 (1.07–2.05) | 0.02 | 1.39 (1.00–1.94) | 0.05 |
 |  | 2v(0+1) |  |  |  |  | 1.54 (1.13–2.08) b | 0.01 |
rs1061956 3'UTR A/G | 0.008 (0.04) | 0 | 747 (98.8) | 774 (98.5) | 1 | Â | 1 | Â |
 |  | 1 | 9 (1.2) | 12 (1.5) | 0.78 (0.33–1.86) | 0.57 | 0.71 (0.29–1.72) | 0.45 |
 |  | 2 | 0 (0) | 0 (0) | ND |  | ND |  |
rs641936 5'UTR A/G | 0.31 (0.45) | 0 | 352 (47.9) | 364 (47.4) | 1 | Â | 1 | Â |
 |  | 1 | 308 (41.9) | 329 (42.8) | 0.97 (0.78–1.20) | 0.77 | 0.98 (0.79–1.21) | 0.85 |
 |  | 2 | 75 (10.2) | 75 (9.8) | 1.03 (0.73–1.47) | 0.85 | 1.16 (0.81–1.67) | 0.43 |
rs1805365 5'UTR T/C | 0.008 (0.048) | 0 | 727 (98.8) | 763 (98.3) | 1 | Â | 1 | Â |
 |  | 1 | 9 (1.2) | 13 (1.7) | 0.73 (0.31–1.71) | 0.47 | 0.66 (0.27–1.58) | 0.35 |
 |  | 2 | 0 (0) | 0 (0) | ND |  | ND |  |
rs535801 SS C/T | 0.29 (0.417) | 0 | 381 (52.1) | 393 (51.2) | 1 | Â | 1 | Â |
 |  | 1 | 292 (40.0) | 307 (40.0) | 0.98 (0.79–1.21) | 0.86 | 1.00 (0.81–1.25) | 0.97 |
 |  | 2 | 58 (7.9) | 68 (8.9) | 0.88 (0.60–1.28) | 0.51 | 1.00 (0.68–1.49) | 0.98 |
rs497763 3'UTR G/A | 0.42 (0.488) | 0 | 259 (34.5) | 278 (35.4) | 1 | Â | 1 | Â |
 |  | 1 | 373 (49.7) | 363 (46.2) | 1.10 (0.88–1.38) | 0.39 | 1.13 (0.90–1.42) | 0.35 |
 |  | 2 | 119 (15.9) | 145 (18.5) | 0.88 (0.66–1.18) | 0.40 | 0.97 (0.72–1.32) | 0.85 |
ATM | Â | Â | Â | Â | Â | Â | Â | Â |
rs2234997 NS A/T Glu126Asp | 0.001 (0.001) | 0 | 744 (99.5) | 784 (99.9) | 1 | Â | 1 | Â |
 |  | 1 | 4 (0.5) | 1 (0.1) | 4.22 (0.47–37.8) | 0.15 | 4.20 (0.46–38.1) | 0.20 |
 |  | 2 | 0 (0) | 0 (0) | ND |  | ND |  |
rs3092856 NS C/T Tyr32His | 0.001 (0.035) | 0 | 753 (100) | 788 (99.8) | 1 | Â | 1 | Â |
 |  | 1 | 0 (0) | 2 (0.3) | ND |  | ND |  |
 |  | 2 | 0 (0) | 0 (0) | ND |  | ND |  |
rs582157 3'UTR T/A | 0.46 (0.438) | 0 | 215 (28.7) | 220 (28.2) | 1 | Â | 1 | Â |
 |  | 1 | 380 (50.8) | 400 (51.3) | 0.97 (0.77–1.23) | 0.81 | 0.98 (0.77–1.24) | 0.85 |
 |  | 2 | 153 (20.5) | 160 (20.5) | 0.98 (0.73–1.31) | 0.88 | 1.00 (0.75–1.35) | 0.96 |
rs1263936 3'UTR G/A | 0.45 (0.375) | 0 | 225 (30.2) | 229 (29.5) | 1 | Â | 1 | Â |
 |  | 1 | 381 (51.1) | 391 (50.3) | 0.99 (0.79–1.25) | 0.94 | 0.99 (0.78–1.25) | 0.90 |
 |  | 2 | 140 (18.8) | 157 (20.2) | 0.91 (0.68–1.22) | 0.52 | 0.94 (0.70–1.27) | 0.70 |
rs609261 5'UTR A/G | 0.46 (0.49) | 0 | 215 (28.6) | 221 (28.3) | 1 | Â | 1 | Â |
 |  | 1 | 384 (51.1) | 396 (50.6) | 1.00 (0.79–1.26) | 0.98 | 1.00 (0.79–1.27) | 0.98 |
 |  | 2 | 152 (20.2) | 165 (21.1) | 0.95 (0.71–1.26) | 0.71 | 0.98 (0.73–1.31) | 0.88 |
RAD50 | Â | Â | Â | Â | Â | Â | Â | Â |
rs1047382 NS A/G Ala558Val | 0.001 (0.095) | 0 | 755 (100) | 789 (99.9) | 1 | Â | 1 | Â |
 |  | 1 | 0 (0) | 1 (0.1) | ND |  | ND |  |
 |  | 2 | 0 (0) | 0 (0) | ND |  | ND |  |
H2AX | Â | Â | Â | Â | Â | Â | Â | Â |
rs643788 3'UTR A/G | 0.42 (0.491) | 0 | 235 (31.8) | 272 (35.1) | 1 | Â | 1 | Â |
 |  | 1 | 368 (49.8) | 354 (45.7) | 1.20 (0.96–1.51) | 0.11 | 1.20 (0.95–1.51) | 0.13 |
 |  | 2 | 136 (18.4) | 149 (19.2) | 1.06 (0.80–1.41) | 0.71 | 1.03 (0.76–1.38) | 0.86 |
rs8551 3'UTR G/A | 0.45 (0.485) | 0 | 236 (31.5) | 277 (35.4) | 1 | Â | 1 | Â |
 |  | 1 | 369 (49.2) | 371 (47.4) | 1.15 (0.93–1.46) | 0.18 | 1.16 (0.92–1.46) | 0.20 |
 |  | 2 | 145 (19.3) | 134 (17.1) | 1.27 (0.95–1.70) | 0.11 | 1.25 (0.93–1.69) | 0.14 |
rs7350 INT G/A | 0.36 (0.413) | 0 | 286 (38.4) | 325 (41.8) | 1 | Â | 1 | Â |
 |  | 1 | 353 (47.5) | 342 (44.0) | 1.17 (0.94–1.46) | 0.15 | 1.20 (0.96–1.50) | 0.11 |
 |  | 2 | 105 (14.1) | 111(14.3) | 1.07 (0.79–1.47) | 0.65 | 1.03 (0.75–1.41) | 0.87 |