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. 2013 Mar 18;4(1):11–34.

Table 1.

Per-allele ORs for BER, HR, and MMR SNPs and lung cancer risk among non-Hispanic white smokers

Major allele Minor allele   Genotype distributiona All
MAFc Cases Controls (744 cases, 1,477 controls)
Pathway Gene SNP (A) (a) (%) AA Aa aa AA Aa aa OR (95% CI) p-value
MMRb MLH1 rs1800734 G A 23.0% 470 212 46 858 520 66 0.91 (0.78, 1.06) 0.215
MMR MLH1 rs1540354 T A 17.0% 499 226 18 1026 399 50 1.05 (0.89, 1.24) 0.553
MMR MLH1 rs4579 G A 45.0% 224 361 159 454 719 304 1.03 (0.91, 1.17) 0.652
MMR MSH2 rs10188090 G A 37.0% 275 366 102 576 706 194 1.06 (0.93, 1.21) 0.394
MMR MSH2 rs2059520 A G 34.0% 299 355 84 626 675 166 1.05 (0.92, 1.20) 0.442
MMR MSH2 rs2303428 A G 9.0% 589 142 13 1204 266 6 1.24 (1.01, 1.52) 0.043
MMR MSH2 rs12998837 T A 13.0% 532 165 12 1068 313 32 1.00 (0.83, 1.21) 0.991
MMR MSH2 rs6544991 A C 18.0% 506 220 17 1008 413 52 0.97 (0.82, 1.14) 0.699
MMR MSH2 rs13425206 C A 4.0% 690 53 1 1356 118 2 0.90 (0.65, 1.24) 0.509
MMR MSH2 rs17036577 A G 9.0% 623 117 4 1227 241 8 0.96 (0.76, 1.20) 0.723
MMR MSH2 rs1863332 A C 8.0% 614 120 9 1239 226 12 1.09 (0.88, 1.36) 0.423
MMR MSH2 rs1981929 A G 41.0% 272 348 124 513 712 251 0.95 (0.84, 1.08) 0.459
MMR MSH2 rs4638843 G C 12.0% 581 151 11 1135 313 27 0.92 (0.76, 1.12) 0.41
MMR MSH2 rs4952887 G A 8.0% 627 108 9 1255 209 11 1.08 (0.86, 1.35) 0.506
MMR MSH2 rs6741393 G A 3.0% 697 45 2 1380 92 2 1.00 (0.71, 1.42) 0.992
MMR MSH2 rs6753135 G A 12.0% 579 152 12 1139 317 19 0.98 (0.81, 1.19) 0.828
MMR MSH2 rs10191478 G T 43.0% 229 376 139 477 730 270 1.04 (0.92, 1.18) 0.54
MMR MSH2 rs4987188 G A 2.0% 713 31 0 1428 47 1 1.29 (0.82, 2.04) 0.27
MMR MSH4 rs5745325 G A 28.0% 384 306 54 773 576 128 0.98 (0.86, 1.13) 0.797
MMR MSH4 rs5745433 A C 26.0% 424 247 69 823 547 106 1.02 (0.89, 1.17) 0.752
MMR MSH4 rs3819949 A G 34.0% 339 297 91 633 614 188 0.94 (0.82, 1.07) 0.333
MMR MSH4 rs2047435 G A 13.0% 552 173 17 1110 343 22 1.06 (0.89, 1.28) 0.507
MMR MSH4 rs1146644 G A 42.0% 249 363 131 515 683 278 1.00 (0.88, 1.13) 0.995
MMR MSH4 rs1498313 A G 40.0% 275 327 141 528 717 230 1.05 (0.92, 1.19) 0.477
MMR MSH4 rs5745513 T A 8.0% 616 122 4 1248 219 8 1.10 (0.88, 1.39) 0.39
MMR MSH4 rs5745549 G A 3.0% 690 53 1 1388 85 3 1.19 (0.85, 1.67) 0.317
MMR MSH5 rs6905572 G A 13% 572 162 10 1120 333 24 0.95 (0.79, 1.15) 0.621
MMR MSH5 rs3131379 G A 11% 548 180 16 1166 292 15 1.37 (1.13, 1.65) 0.001
MMR MSH5 rs707937 C G 20% 477 236 29 948 469 56 1.01 (0.86, 1.18) 0.884
MMR MSH5 rs707938 A G 32% 322 318 104 681 635 161 1.15 (1.01, 1.31) 0.038
MMR MSH5 rs707939 C A 35% 326 343 73 620 673 176 0.91 (0.80, 1.04) 0.184
MMR MSH5 rs2299851 G A 10% 604 133 5 1202 256 17 0.99 (0.80, 1.22) 0.928
MMR MSH5 rs3117572 G A 17% 514 201 29 1014 416 47 1.00 (0.85, 1.18) 0.999
MMR MSH5 rs3131382 G A 6% 645 80 6 1273 164 4 1.04 (0.80, 1.35) 0.76
MMR MSH5 rs1802127 C T 2% 716 28 0 1427 49 1 1.10 (0.69, 1.76) 0.683
MMR MSH6 rs1800932 A G 18% 498 220 25 990 428 53 1.00 (0.85, 1.18) 0.984
MMR MSH6 rs1800937 G A 11% 599 136 9 1169 297 10 0.95 (0.77, 1.17) 0.615
MMR MSH6 rs1800935 A G 29% 381 289 66 736 604 125 0.97 (0.84, 1.11) 0.641
MMR MSH6 rs2710163 A G 39% 278 340 124 551 690 233 1.02 (0.90, 1.16) 0.748
MMR MSH6 rs2348244 A G 14% 545 185 13 1084 358 33 0.98 (0.82, 1.18) 0.856
MMR MSH6 rs3136245 G A 19% 488 226 27 960 465 48 1.00 (0.85, 1.17) 0.972
MMR MSH6 rs330792 A C 11% 565 170 9 1156 307 14 1.13 (0.93, 1.37) 0.23
MMR MSH6 rs1800936 C T 13% 574 155 15 1110 350 17 0.94 (0.77, 1.13) 0.501
MMR MSH6 rs3136329 A G 42% 242 359 140 481 731 259 1.03 (0.90, 1.16) 0.701
BERb APEX1 rs1760945 C T 8% 637 100 4 1249 213 10 0.92 (0.73, 1.17) 0.509
BER APEX1 rs1760944 C A 39% 270 352 119 547 694 231 1.03 (0.91, 1.18) 0.607
BER APEX1 rs3136817 T C 25% 411 276 57 840 541 96 1.08 (0.93, 1.24) 0.313
BER APEX1 rs1130409 A C 47% 192 361 190 413 723 338 1.10 (0.98, 1.25) 0.116
BER LIG3 rs3135962 A C 7% 647 95 2 1264 207 6 0.91 (0.71, 1.16) 0.443
BER LIG3 rs3135989 A C 6% 644 97 2 1301 174 1 1.17 (0.90, 1.51) 0.249
BER LIG3 rs2074516 G C 10% 598 135 8 1184 276 17 0.96 (0.78, 1.18) 0.696
BER LIG3 rs4796030 C A 42% 242 377 123 486 730 261 0.99 (0.87, 1.13) 0.904
BER LIG3 rs1052536 G A 47% 189 396 156 415 742 320 1.04 (0.91, 1.18) 0.584
BER MBD4 rs3138360 G A 6% 666 77 1 1292 174 3 0.85 (0.64, 1.12) 0.253
BER MBD4 rs140696 G A 9% 604 137 3 1210 257 10 1.04 (0.84, 1.29) 0.727
BER MBD4 rs9821282 G A 16% 537 185 20 1035 408 34 0.94 (0.79, 1.11) 0.453
BER MPG rs1013358 T C 14% 577 153 14 1093 354 30 0.86 (0.71, 1.04) 0.110
BER MPG rs2562182 A G 16% 559 164 18 1044 400 32 0.84 (0.70, 1.00) 0.050
BER MPG rs743725 C T 19% 518 203 23 978 450 49 0.88 (0.75, 1.04) 0.140
BER MUTYH rs3219489 G C 25% 417 279 42 825 562 79 1.00 (0.86, 1.15) 0.948
BER MUTYH rs3219487 G A 8% 628 112 3 1240 225 9 0.96 (0.76, 1.21) 0.728
BER MUTYH rs3219484 G A 7% 638 106 0 1273 198 6 1.01 (0.79, 1.30) 0.930
BER MUTYH rs3219474 A G 8% 631 109 4 1255 212 6 1.04 (0.82, 1.32) 0.747
BER NEIL1 rs7182283 G T 50% 185 359 192 349 777 339 1.04 (0.91, 1.18) 0.578
BER NEIL1 rs4462560 C G 26% 428 274 41 813 565 99 0.91 (0.78, 1.05) 0.194
BER NEIL2 rs4841593 C G 8% 621 120 2 1256 209 11 1.08 (0.86, 1.36) 0.510
BER NEIL2 rs904009 A C 24% 434 252 57 851 535 88 1.02 (0.88, 1.18) 0.804
BER NEIL2 rs2010628 G T 23% 445 248 51 881 521 75 1.03 (0.89, 1.20) 0.664
BER NEIL2 rs8191529 G C 9% 634 105 5 1229 240 8 0.87 (0.69, 1.10) 0.238
BER NEIL2 rs804267 A G 33% 333 319 92 669 651 155 1.05 (0.92, 1.20) 0.456
BER NEIL2 rs8191534 T A 23% 441 250 53 865 528 82 1.01 (0.88, 1.17) 0.858
BER NEIL2 rs8191542 G C 22% 437 260 38 889 503 70 1.06 (0.91, 1.24) 0.422
BER NEIL2 rs8191589 T A 22% 443 263 37 889 516 72 1.04 (0.89, 1.20) 0.645
BER NEIL2 rs4840581 G A 45% 232 359 153 442 724 309 0.96 (0.85, 1.09) 0.563
BER NEIL2 rs4840583 C T 45% 219 367 158 425 771 281 1.03 (0.90, 1.17) 0.687
BER NEIL2 rs804256 T C 36% 304 338 102 597 695 185 1.01 (0.88, 1.15) 0.914
BER NEIL2 rs8191604 A C 26% 409 276 57 807 569 99 1.00 (0.87, 1.15) 0.987
BER NEIL2 rs4840585 A C 8% 627 115 2 1258 208 10 1.05 (0.83, 1.32) 0.700
BER NEIL2 rs1874546 C G 24% 456 254 31 859 526 83 0.87 (0.75, 1.01) 0.074
BER NEIL2 rs8191649 C T 22% 466 233 45 889 519 69 0.96 (0.83, 1.12) 0.620
BER NEIL2 rs6982453 A G 49% 200 389 154 374 755 345 0.92 (0.81, 1.04) 0.189
BER NEIL2 rs1534862 G A 23% 454 243 46 864 534 78 0.95 (0.82, 1.10) 0.464
BER NEIL2 rs6997097 A G 7% 654 84 4 1281 186 7 0.92 (0.71, 1.19) 0.514
BER NEIL2 rs1043180 G A 12% 575 160 8 1127 333 17 0.94 (0.77, 1.14) 0.533
BER NEIL2 rs2645450 T C 23% 426 273 45 878 531 68 1.10 (0.95, 1.28) 0.187
BER NEIL2 rs904015 G A 35% 321 327 95 614 678 174 0.99 (0.87, 1.13) 0.877
BER NTHL1 rs12447809 G T 19% 474 233 37 960 463 54 1.07 (0.92, 1.26) 0.361
BER NTHL1 rs1132368 G A 4% 689 54 1 1348 128 0 0.86 (0.62, 1.20) 0.379
BER NTHL1 rs2531213 A G 3% 697 47 0 1378 99 0 0.93 (0.65, 1.33) 0.672
BER NTHL1 rs3211995 G A 17% 517 205 22 1009 427 41 0.95 (0.81, 1.13) 0.579
BER NTHL1 rs2516740 A C 23% 452 255 37 880 524 73 0.96 (0.83, 1.12) 0.593
BER NTHL1 rs2516739 G A 22% 459 248 37 886 517 72 0.95 (0.82, 1.10) 0.495
BER OGG1 rs159153 A G 29% 353 307 84 748 584 140 1.11 (0.97, 1.27) 0.127
BER OGG1 rs1052133 C G 23% 440 265 39 873 519 85 1.00 (0.86, 1.16) 0.992
BER OGG1 rs293795 A G 18% 498 222 24 990 438 49 0.98 (0.83, 1.15) 0.815
BER OGG1 rs293794 A G 18% 499 221 24 986 439 49 0.97 (0.83, 1.14) 0.736
BER OGG1 rs293796 G A 8% 623 110 8 1260 207 8 1.14 (0.91, 1.43) 0.253
BER PCNA rs3729558 G C 47% 223 373 148 422 719 335 0.92 (0.81, 1.05) 0.205
BER PCNA rs17349 G A 12% 594 140 8 1147 309 19 0.88 (0.72, 1.07) 0.199
BER PCNA rs25406 G A 40% 239 370 135 553 675 249 1.14 (1.01, 1.29) 0.038
BER PCNA rs25405 A G 12% 591 141 8 1145 306 19 0.89 (0.73, 1.09) 0.262
BER PCNA rs4239761 A G 19% 476 233 34 970 439 68 1.04 (0.90, 1.22) 0.587
BER PNKP rs7257463 T A 34% 319 327 98 628 685 164 1.04 (0.92, 1.19) 0.518
BER PNKP rs1290646 G A 50% 188 383 172 373 734 366 0.96 (0.85, 1.09) 0.558
BER PNKP rs3739177 C T 8% 615 124 5 1259 211 7 1.20 (0.96, 1.51) 0.112
BER PNKP rs2257103 G A 39% 265 362 115 546 699 224 1.04 (0.92, 1.19) 0.519
BER PNKP rs2353005 G A 16% 543 187 14 1057 379 41 0.92 (0.77, 1.10) 0.356
BER POLB rs3136711 T C 8% 627 111 6 1247 219 11 1.03 (0.82, 1.29) 0.829
BER POLB rs2976244 A T 7% 645 95 2 1288 177 11 0.98 (0.76, 1.25) 0.851
BER POLB rs3136790 A C 11% 585 154 5 1170 286 18 1.00 (0.82, 1.22) 0.991
BER POLB rs3136797 C G 2% 716 28 0 1430 46 1 1.15 (0.72, 1.84) 0.569
BER POLB rs2073664 G A 6% 647 89 2 1288 168 11 0.96 (0.75, 1.24) 0.761
BER POLI rs3730668 C A 41% 283 336 116 524 681 254 0.91 (0.80, 1.03) 0.135
BER POLI rs476630 G A 29% 367 300 77 750 600 126 1.08 (0.95, 1.24) 0.248
BER POLI rs686881 A G 6% 643 100 1 1310 161 6 1.20 (0.92, 1.54) 0.173
BER POLI rs3730814 C A 23% 431 272 40 886 499 89 1.04 (0.90, 1.20) 0.593
BER POLI rs3218786 A G 3% 701 40 2 1391 82 0 1.06 (0.73, 1.53) 0.771
BER POLI rs8305 A G 30% 359 315 70 716 630 131 1.03 (0.90, 1.18) 0.673
BER POLI rs596986 G C 6% 643 100 1 1310 161 6 1.20 (0.92, 1.54) 0.173
BER PPP1R13L rs6966 T A 16% 539 185 20 1048 377 47 0.95 (0.80, 1.12) 0.524
BER PPP1R13L rs4803817 A G 23% 451 255 36 874 510 88 0.94 (0.81, 1.09) 0.425
BER PPP1R13L rs10412761 A G 40% 282 357 105 541 681 252 0.92 (0.81, 1.05) 0.204
BER PPP1R13L rs1005165 G A 17% 527 194 22 1016 410 45 0.93 (0.78, 1.10) 0.367
BER RAD18 rs4389469 C T 40% 282 349 113 547 691 239 0.97 (0.85, 1.10) 0.619
BER RAD18 rs369032 A G 38% 285 357 102 579 674 224 0.99 (0.87, 1.13) 0.915
BER RAD18 rs2035221 G A 9% 613 123 6 1227 235 10 1.05 (0.85, 1.31) 0.641
BER RAD18 rs593205 G C 8% 605 136 3 1251 211 12 1.23 (0.99, 1.53) 0.066
BER RAD18 rs373572 A G 26% 402 283 56 800 571 105 1.02 (0.88, 1.17) 0.805
BER RAD18 rs13088787 C A 13% 569 165 10 1127 326 24 0.98 (0.81, 1.19) 0.868
BER RAD18 rs615967 T C 21% 461 253 30 920 480 77 0.99 (0.85, 1.15) 0.850
BER RAD18 rs604092 A G 18% 501 220 22 1004 414 56 1.00 (0.85, 1.18) 0.962
BER SMUG1 rs971 G A 34% 324 323 93 654 647 172 1.03 (0.90, 1.17) 0.654
BER SMUG1 rs3087404 G A 46% 226 358 157 437 714 325 0.96 (0.85, 1.09) 0.573
BER TDG rs172814 A G 16% 548 186 10 1052 384 40 0.87 (0.72, 1.03) 0.113
BER TDG rs4135054 G A 11% 573 163 8 1170 291 16 1.11 (0.91, 1.35) 0.290
BER TDG rs4135061 A G 27% 404 297 41 788 578 109 0.93 (0.80, 1.07) 0.305
BER TDG rs4135064 G A 9% 599 140 4 1221 246 9 1.13 (0.91, 1.40) 0.274
BER TDG rs4135081 A G 37% 273 370 101 579 695 200 1.06 (0.93, 1.21) 0.388
BER TDG rs3751206 G A 7% 644 96 2 1292 174 9 1.04 (0.81, 1.34) 0.735
BER TDG rs4135087 G A 10% 610 130 3 1184 278 13 0.87 (0.70, 1.08) 0.197
BER TDG rs167715 A G 11% 576 160 8 1164 294 19 1.05 (0.87, 1.28) 0.598
BER TDG rs10861152 G A 39% 291 350 97 538 715 216 0.91 (0.80, 1.03) 0.142
BER TDG rs1866074 A G 51% 178 387 178 377 689 409 0.96 (0.85, 1.09) 0.517
BER TDG rs4135106 A G 7% 654 86 2 1282 183 9 0.88 (0.68, 1.14) 0.326
BER TDG rs4135128 G C 9% 617 123 3 1241 218 17 1.02 (0.82, 1.27) 0.849
BER UNG rs3890995 A G 18% 491 233 20 986 461 30 1.06 (0.89, 1.25) 0.529
BER UNG rs1018783 T A 16% 492 232 20 1033 403 41 1.13 (0.96, 1.33) 0.152
BER UNG rs2569987 A G 17% 501 223 19 1009 421 45 1.01 (0.86, 1.19) 0.893
BER UNG rs246079 A G 42% 217 381 145 485 750 241 1.15 (1.01, 1.31) 0.034
BER UNG rs34259 C G 20% 446 266 30 938 476 62 1.10 (0.94, 1.28) 0.245
BER XRCC1 rs25487 C T 37% 288 365 91 604 664 209 1.00 (0.88, 1.14) 0.950
BER XRCC1 rs25486 A G 37% 288 365 90 599 664 209 1.00 (0.87, 1.13) 0.946
BER XRCC1 rs25489 C T 4% 685 57 2 1348 128 1 0.94 (0.69, 1.29) 0.701
BER XRCC1 rs1799782 G A 5% 661 82 1 1320 153 4 1.05 (0.80, 1.38) 0.733
BER XRCC1 rs3213344 G C 5% 661 80 1 1320 150 5 1.03 (0.78, 1.35) 0.844
BER XRCC1 rs3213334 G A 24% 434 266 44 866 509 102 0.99 (0.85, 1.14) 0.851
BER XRCC1 rs2023614 G C 8% 633 107 1 1249 220 6 0.92 (0.72, 1.18) 0.513
BER XRCC1 rs2854510 A G 21% 470 245 28 936 461 78 0.96 (0.82, 1.12) 0.586
BER XRCC1 rs2854509 C A 22% 456 242 42 914 480 80 1.02 (0.88, 1.18) 0.793
BER XRCC1 rs3213266 G A 8% 630 111 2 1238 232 7 0.92 (0.73, 1.16) 0.477
BER XRCC1 rs3213255 A G 43.0% 242 375 126 491 712 274 0.98 (0.86, 1.11) 0.759
HRb XRCC2 rs3218536 G A 7% 631 109 2 1262 210 5 1.05 (0.82, 1.33) 0.715
HR XRCC2 rs6964582 G C 4% 663 77 2 1349 124 2 1.26 (0.95, 1.68) 0.114
HR XRCC2 rs3218438 T C 9% 598 138 8 1215 247 15 1.10 (0.89, 1.35) 0.378
HR XRCC2 rs3218408 A C 22% 430 278 35 901 494 78 1.08 (0.93, 1.25) 0.316
HR XRCC2 rs3218373 C A 9% 617 119 7 1230 235 10 1.03 (0.82, 1.28) 0.808
HR XRCC2 rs2040639 G A 48% 212 366 166 387 767 322 0.97 (0.85, 1.10) 0.625
HR XRCC3 rs861539 G A 39% 307 333 104 536 724 217 0.89 (0.78, 1.01) 0.067
HR XRCC3 rs3212102 C T 3% 711 33 0 1402 75 0 0.88 (0.58, 1.33) 0.539
HR XRCC3 rs3212090 G A 32% 311 354 78 694 628 151 1.12 (0.98, 1.28) 0.087
HR XRCC3 rs3212079 G A 7% 644 99 1 1271 191 12 0.93 (0.73, 1.19) 0.585
HR XRCC3 rs861530 C T 29% 362 328 54 733 625 119 1.01 (0.88, 1.17) 0.839
HR XRCC3 rs1799794 A G 18% 477 245 22 980 442 48 1.08 (0.92, 1.27) 0.340
HR XRCC3 rs861528 G A 26% 427 267 45 807 550 107 0.90 (0.78, 1.04) 0.157
a

Among all cases and controls; AA, homozygous major allele; Aa, heterozygous; aa, homozygous minor allele; numbers do not sum to total due to missing.

b

MMR, mismatch repair; BER, base excision repair; HR, homologous recombination.

c

MAF, minor allele frequency.