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Table 1 Statistical analysis of association between CRC risk and polymorphisms selected for the study (n = 2144; OR calculations were adjusted according to age and sex).

From: Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

  Gene Name Nucleotidic change ** Proteic change ** SNP ID ** Ref *** Controls Cases +/- vs. +/+ -/- vs. +/+ +/- and -/- vs. +/+
       +/+ +/- -/- +/+ +/- -/- OR (95%CI) p OR (95% CI) p OR (95% CI) p
Inflammation ALOX5 c.760G>A p.Glu254Lys rs2228065 16 1121 0 0 1023 0 0 Rare   Rare   Rare  
  ALOX12 c.782G>A p.Gln261Arg rs1126667 16 361 549 211 357 498 168 0.93 (0.76–1.12) 0.37 0.82 (0.63–1.06) 0.09 0.90 (0.75–1.08) 0.24
  IL6 c.-239G>C   rs1800795 17 435 504 182 363 489 171 1.12 (0.92–1.35) 0.11 1.13 (0.87–1.46) 0.35 1.12 (0.94–1.34) 0.22
  IL8 c.-352T>A   rs4073 17 375 516 230 307 511 205 1.25 (1.03–1.53) 0.02 1.12 (0.88–1.44) 0.49 1.21 (1.01–1.46) 0.04
  PLA2G2A c.-859C>G   rs11573156 d 738 337 46 627 349 47 1.20 (1.00–1.45) 0.05 1.16 (0.75–1.78) 0.39 1.20 (1.00–1.43) 0.05
  PLA2G2A c.132C>T p.Tyr44Tyr rs4744 d 742 333 46 635 342 46 1.17 (0.97–1.42) 0.05 1.13 (0.73–1.73) 0.47 1.17 (0.98–1.40) 0.09
  PLA2G2A c.185+88G>A   rs2236772 d 1062 59 0 952 69 2 1.30 (0.90–1.88) 0.14 Rare   1.35 (0.94–1.94) 0.11
  PLA2G2A c.435+230C>T   rs11677 d 829 276 16 789 226 8 0.82 (0.67–1.01) 0.07 0.50 (0.21–1.19) 0.13 0.80 (0.66–0.98) 0.03
  PLD2 c.1731C>T p.Thr577Ile rs1052748 18 316 559 246 280 520 223 1.05 (0.86–1.29) 0.63 1.00 (0.78–1.27) 0.85 1.04 (0.85–1.26) 0.82
  PTGS1 c.22C>T p.Trp8Arg rs1236913 d,32,34 976 139 6 879 143 1 1.19 (0.92–1.54) 0.30 0.18 (0.02–1.54) 0.08 1.15 (0.89–1.48) 0.29
  PTGS1 c.50C>T p.Pro17Leu rs3842787 d,32,34 970 147 4 874 142 7 1.06 (0.82–1.37) 0.58 2.17 (0.62–7.61) 0.28 1.09 (0.85–1.40) 0.51
  PTGS1 c.639C>A p.Gly213Gly rs5788 d,32 858 243 20 747 254 22 1.24 (1.01–1.53) 0.03 1.26 (0.67–2.36) 0.45 1.24 (1.02–1.52) 0.03
  PTGS1 c.123G>A p.Gln41Gln rs3842788 d,32 1074 47 0 978 45 0 1.10 (0.72–1.68) 0.81 Rare   1.10 (0.72–1.68) 0.81
  PTGS2 c.-646C>T   rs20420 d,16 1121 0 0 1023 0 0 Rare   Rare   Rare  
  PTGS2 c.306G>C p.Val102Val rs5277 d,31 783 312 26 707 285 31 1.00 (0.82–1.21) 0.90 1.25 (0.73–2.16) 0.30 1.02 (0.84–1.23) 0.85
  PTGS2 c.1815+427T>C   rs5275 d,31 494 499 128 433 476 114 1.08 (0.90–1.30) 0.36 1.01 (0.76–1.35) 0.91 1.07 (0.90–1.27) 0.47
  PTGS2 c.1815+1912A>G   rs4648298 d,31 1062 59 0 959 64 0 1.31 (0.90–1.89) 0.32 Rare   1.31 (0.90–1.89) 0.32
  PPARG c.36C>G p.Pro12Ala rs1801282 17 896 212 13 822 194 7 1.02 (0.81–1.27) 0.98 0.47 (0.19–1.20) 0.25 0.98 (0.79–1.22) 0.85
  PPARG c.1431C>T p.His477His rs3856806 33 875 217 29 803 211 9 1.07 (0.86–1.33) 0.59 0.30 (0.14–0.65) 0.003 0.97 (0.79–1.20) 0.8
Xenobiotics CYP1A2 c.-163A>C   rs762551 19–21 554 482 85 520 423 80 0.97 (0.81–1.16) 0.46 1.08 (0.77–1.51) 0.99 0.99 (0.83–1.17) 0.87
detoxification CYP1A2 c.1548T>C p.Asn516Asn rs2470890 20,21 455 525 141 433 467 123 0.97 (0.81–1.17) 0.47 0.97 (0.73–1.28) 0.53 0.97 (0.81–1.16) 0.94
  CYP2E1 c.-1293G>C   rs3813867 20 1032 88 1 954 67 2 0.81 (0.58–1.13) 0.25 2.15 (0.18–25.3) 0.52 0.82 (0.59–1.15) 0.37
  CYP2E1 c.-1053C>T   rs2031920 20 1030 90 1 950 67 6 0.79 (0.57–1.11) 0.20 5.74 (0.67–49.2) 0.09 0.85 (0.61–1.18) 0.33
  CYP1B1 c.1294C>G p.Leu432Val rs1056836 19–21 370 577 174 322 510 191 0.98 (0.81–1.20) 0.87 1.22 (0.94–1.58) 0.07 1.04 (0.86–1.25) 0.68
  CYP2C9 c.430C>T p.Arg144Cys rs1799853 19–21 823 281 17 751 251 21 0.96 (0.79–1.18) 0.83 1.34 (0.69–2.59) 0.36 0.98 (0.81–1.20) 0.88
  EPHX1 c.337T>C p.Tyr113His rs1051740 19–21 564 469 88 525 409 89 0.92 (0.77–1.11) 0.47 1.12 (0.81–1.54) 0.61 0.95 (0.80–1.13) 0.58
  GSTA1 c.-4605G>A   rs3957356 22 372 549 200 333 517 173 1.07 (0.88–1.30) 0.60 1.03 (0.79–1.33) 0.79 1.06 (0.88–1.28) 0.53
  GSTM1 null    19–21 161 392 568 174 305 544 0.72 (0.55–0.94) 0.01 0.86 (0.67–1.10) 0.33 0.80 (0.63–1.02) 0.07
  GSTM3 c.468+21delAGG    19,20 788 308 25 679 316 27 1.19 (0.98–1.44) 0.07 1.09 (0.62–1.92) 0.42 1.18 (0.98–1.42) 0.08
  GSTP1 c.313A>G p.Ile105Val rs1695 19–21 511 486 124 465 447 111 1.04 (0.86–1.24) 0.90 0.96 (0.72–1.29) 0.91 1.02 (0.86–1.21) 0.82
  GSTP1 c.341C>T p.Ala114Val rs1138272 19–21 966 146 9 882 137 4 1.00 (0.77–1.29) 0.83 0.44 (0.13–1.47) 0.22 0.96 (0.75–1.24) 0.78
  GSTT1 null    19–21 433 483 205 411 429 183 0.95 (0.78–1.15) 0.49 0.97 (0.75–1.23) 0.62 0.95 (0.80–1.14) 0.58
  NQO1 c.415C>T p.Arg139Trp rs4986998 20,21 1056 65 0 961 62 0 1.06 (0.74–1.54) 0.80 Rare   1.06 (0.74–1.54) 0.80
  NQO1 c.559C>T p.Pro187Ser rs1800566 19,21 719 351 51 633 343 47 1.09 (0.91–1.32) 0.26 1.08 (0.71–1.64) 0.83 1.09 (0.91–1.31) 0.34
  SULT1A2 c.714A>C p.Asn235Thr rs1059491 21 535 458 128 481 437 105 1.09 (0.90–1.31) 0.52 0.92 (0.69–1.23) 0.53 1.05 (0.88–1.25) 0.58
  UGT1A1 c.-3279T>G   rs4124874 23 359 546 216 308 515 200 1.09 (0.90–1.33) 0.34 1.08 (0.84–1.39) 0.54 1.09 (0.90–1.31) 0.37
  UGT1A1 c.-3156G>A   rs10929302 23 535 495 91 474 458 91 1.03 (0.86–1.24) 0.65 1.11 (0.80–1.53) 0.45 1.04 (0.88–1.24) 0.63
  UGT1A6 c.541A>G p.Thr181Ala rs2070959 22 508 504 109 470 443 110 0.94 (0.78–1.13) 0.97 1.07 (0.80–1.45) 0.56 0.96 (0.81–1.15) 0.67
  UGT1A6 c.552A>C p.Arg184Ser rs1105879 22 460 529 132 438 454 131 0.89 (0.74–1.07) 0.26 1.03 (0.77–1.36) 0.77 0.92 (0.77–1.09) 0.34
Insulin GH1 c.456+90T>A   rs2665802 24 326 561 234 316 527 180 0.96 (0.79–1.17) 0.75 0.80 (0.62–1.03) 0.07 0.91 (0.76–1.10) 0.36
  IGF1 c.-1006CA(19)    25 764 152 205 689 159 175 1.12 (0.87–1.44) 0.24 0.95 (0.75–1.20) 0.63 1.02 (0.85–1.23) 0.81
  IGFBP3 c.-336A>C   rs2854744 25 287 571 263 259 502 262 0.99 (0.80–1.22) 0.80 1.13 (0.88–1.44) 0.42 1.03 (0.85–1.26) 0.76
  IRS1 c.2911G>A p.Gly971Arg rs1801278 25 956 158 7 865 152 6 1.01 (0.79–1.29) 0.62 0.86 (0.28–2.66) 0.92 1.00 (0.79–1.28) 0.97
  VDR c.1024+283G>A   rs1544410 25 423 520 178 372 493 158 1.11 (0.92–1.35) 0.43 1.06 (0.81–1.37) 0.94 1.10 (0.92–1.31) 0.31
One-carbon CBS c.844ins68    26,27 928 185 8 829 185 8 1.12 (0.89–1.41) 0.32 1.20 (0.44–3.28) 0.82 1.12 (0.90–1.41) 0.31
  MTHFD1 c.1958G>A p.Arg653Gln rs2236225 28 339 557 225 322 494 207 0.91 (0.75–1.12) 0.49 0.99 (0.77–1.27) 0.80 0.94 (0.78–1.13) 0.48
  MTHFR c.665C>T p.Ala222Val rs1801133 26,27 457 515 149 435 452 136 0.93 (0.77–1.12) 0.38 0.95 (0.73–1.25) 0.76 0.93 (0.78–1.11) 0.44
  MTHFR c.1286A>C p.Ala429Glu rs1801131 26,27 577 443 101 484 432 107 1.20 (1.00–1.45) 0.04 1.26 (0.93–1.70) 0.12 1.21 (1.02–1.44) 0.03
  MTR c.2756A>G p.Asp919Gly rs1805087 26,27 742 335 44 706 289 28 0.90 (0.74–1.09) 0.31 0.64 (0.39–1.06) 0.10 0.87 (0.72–1.05) 0.14
  MTRR c.66A>G p.Ile22Met rs1801394 26,27 322 568 231 291 515 217 1.01 (0.83–1.24) 0.97 1.01 (0.79–1.30) 0.75 1.01 (0.84–1.23) 0.89
  TYMS c.943+447del TTAAAG    27 524 482 115 456 456 110 1.13 (0.94–1.36) 0.36 1.04 (0.77–1.39) 0.52 1.11 (0.94–1.33) 0.22
DNA repair* OGG1 c.977C>G p.Cys326Ser rs1052133 29 668 402 51 651 321 51 0.84 (0.69–1.01) 0.05 1.04 (0.69–1.57) 0.90 0.86 (0.72–1.03) 0.09
  1. * SNP OGG1 c.977C>G was chosen to be analyzed together with 6 monoallelic germline mutations of the MUTYH gene – also belonging to the base excision repair system like OGG1 – which were studied previously for their predisposing effect on sporadic CRC (Küry et al., Genet Test; ref [30]).
  2. ** Nomenclature referring to the databases dbNSP, SNPPER and SNP500Cancer.
  3. *** Ref: numbers correspond to bibliographical references, and the "d" mark corresponds to SNPs identified by dHPLC screening in 50 patients with CRC and 50 controls from the study population.