Table 4.
Gene/Variant |
Colorectal adenomas
|
Colorectal cancer
|
||||||||
---|---|---|---|---|---|---|---|---|---|---|
Cases vs controls (number of samples) |
var/wt vs wt/wt
|
var/var vs wt/wt
|
Cases vs controls (number of samples) |
var/wt vs wt/wt
|
var/var vs wt/wt
|
|||||
OR (95% CI) | P -value | OR (95% CI) | P -value | OR (95% CI) | P -value | OR (95% CI) | P -value | |||
APC /c.5465T>A | 2805 vs 4369 (4) | 0.99 (0.89 −1.09) | 0.79 | 0.86 (0.68 −1.07) | 0.18 | 6282 vs 7038 (6) | 0.99 (0.92 −1.07) | 0.83 | 0.84 (0.71 −0.98) | 0.03 |
p.Val1822Asp | ||||||||||
BHMT /c.716G>A | 3691 vs 12 174 (4) | 0.94 (0.87 −1.02) | 0.16 | 0.94 (0.81 −1.07) | 0.34 | – | – | – | – | – |
p.Arg239Gln | ||||||||||
PTGS1 /c.22T>C | 2551 vs 4342 (4) | 1.06 (0.91 −1.23) | 0.48 | 0.64 (0.28 −1.48) | 0.30 | – | – | – | – | – |
p.Trp8Arg | ||||||||||
PTGS1 /c.382C>A | 1337 vs 1928 (3) | – | – | 1.03 (0.74 −1.42) | 0.87 | – | – | – | – | – |
p.Leu237Met | ||||||||||
PTGS2 /c.-765G>C | 1507 vs 2042 (4) | 0.88 (0.73 −1.05) | 0.16 | 0.74 (0.44 −1.23) | 0.24 | 5459 vs 7272 (11) | 1.03 (0.95 −1.13) | 0.45 | 1.21 (0.93 −1.57) | 0.15 |
PTGS2 /c.*427T>C | 2643 vs 4616 (6) | 1.02 (0.88 −1.19) | 0.79 | 1.14 (0.97 −1.33) | 0.11 | 4745 vs 5756 (7) | 1.01 (0.93 −1.09) | 0.87 | 1.03 (0.91 −1.17) | 0.65 |
PTGS2 /c.640-275T>G | 2492 vs 4423 (5) | 0.95 (0.85 −1.07) | 0.41 | 0.99 (0.74 −1.34) | 0.97 | – | – | – | – | – |
CRP /c.*1082G>A | 2016 vs 3465 (3) | 0.96 (0.85 −1.08) | 0.53 | 1.15 (0.77 −1.71) | 0.49 | – | – | – | – | – |
CYP1A1 /c.1384A>G | 1846 vs 1853 (3) | 1.05 (0.85 −1.30) | 0.66 | – | – | 10274 vs 11 978 (13) | 1.28 (1.01 −1.63) | 0.05 | 1.47 (1.17 −1.85) | 0.001 |
p.Ile462Val | ||||||||||
CYP1A1 /c.*1189T>C | 3126 vs 5079 (5) | 0.90 (0.79 −1.02) | 0.11 | 0.78 (0.52 −1.16) | 0.21 | 4897 vs 6559 (7) | 0.94 (0.86 −1.04) | 0.23 | 0.84 (0.56 −1.27) | 0.42 |
CYP1A2 /c.-9-154C>A | 2689 vs 4373 (4) | 1.00 (0.90 −1.11) | 0.96 | 1.08 (0.89 −1.31) | 0.42 | 3051 vs 5326 (9) | 1.13 (0.95 −1.34) | 0.18 | 1.07 (0.92 −1.26) | 0.40 |
GSTM1 | 3952 vs 3514 (7) | – | – | 1.03 (0.94 −1.13) | 0.50 | 18845 vs 26 662 (43) | – | – | 1.07 (1.01 −1.13) | 0.02 |
GSTP1 /c.313A>G | 3945 vs 5320 (6) | 0.99 (0.91 −1.09) | 0.89 | 1.00 (0.87 −1.15) | 0.99 | 9267 vs 12 902 (22) | 1.05 (0.99 −1.12) | 0.11 | 0.95 (0.86 −1.05) | 0.32 |
p.Ile105Val | ||||||||||
GSTP1 /c.341C>T p.Ala114Val | 1316 vs 1973 (3) | 0.86 (0.70 −1.05) | 0.14 | 0.77 (0.28 −2.07) | 0.60 | 5183 vs 5457 (6) | 1.02 (0.91 −1.13) | 0.77 | 0.87 (0.55 −1.37) | 0.55 |
GSTT1 | 4345 vs 3964 (8) | – | – | 1.06 (0.95 −1.19) | 0.31 | 13410 vs 20 455 (35) | – | – | 1.18 (1.07 −1.31) | 0.002 |
MEH /c.337T>C | 7387 vs 8774 (12) | 0.96 (0.89 −1.03) | 0.24 | 0.92 (0.82 −1.03) | 0.15 | – | – | – | – | – |
p.Tyr113His | ||||||||||
MEH /c.416A>G | 7424 vs 8845 (12) | 1.00 (0.93 −1.07) | 0.97 | 1.10 (0.93 −1.29) | 0.26 | – | – | – | – | – |
p.His139Arg | ||||||||||
MTHFR /c.677C>T | 11362 vs 23 006 (24) | 0.95 (0.90 −1.00) | 0.04 | 0.95 (0.88 −1.03) | 0.23 | 27372 vs 39 867 (52) | 1.00 (0.94 −1.06) | 0.92 | 0.87 (0.81 −0.94) | <0.0005 |
p.Ala222Val | ||||||||||
MTHFR /c1286A>C | 6760 vs 15 498 (10) | 1.02 (0.95 −1.09) | 0.65 | 1.08 (0.97 −1.20) | 0.16 | 1 7178 vs 24 792 (34) | 1.01 (0.97 −1.06) | 0.51 | 0.94 (0.87 −1.01) | 0.09 |
p.Glu429Ala | ||||||||||
MTRR /c.66A>G | 2911 vs 9342 (3) | 0.94 (0.84 −1.06) | 0.31 | 0.90 (0.79 −1.03) | 0.12 | 6170 vs 8732 (9) | 0.98 (0.90 −1.07) | 0.66 | 1.04 (0.94 −1.14) | 0.47 |
p.Ile22Met | ||||||||||
MTR /c.2756A>G | 4730 vs 13 710 (7) | 1.02 (0.95 −1.10) | 0.53 | 1.00 (0.84 −1.20) | 0.97 | 1 1829 vs 15 975 (14) | 0.97 (0.92 −1.02) | 0.27 | 1.00 (0.83 −1.20) | 0.98 |
p.Asp919Gly | ||||||||||
NAT1 | 2347 vs 3143 (5) | 1.14 (0.98 −1.34) | 0.10 | 1.35 (1.02 −1.78) | 0.04 | 4791 vs 6628 (15) | 0.80 (0.68 −0.93) | 0.003 | 0.98 (0.79 −1.22) | 0.97 |
NAT2 | 4092 vs 4731 (9) | 0.99 (0.92 −1.08) | 0.84 | 0.86 (0.74 −1.00) | 0.06 | 1 2908 vs 16 483 (26) | 1.01 (0.83 −1.22) | 0.94 | 0.95 (0.76 −1.20) | 0.68 |
NQO1 /c.559C>T | 4097 vs 5967 (6) | 1.08 (0.95 −1.23) | 0.25 | 1.26 (1.00 −1.59) | 0.05 | 5084 vs 5932 (8) | 1.14 (0.96 −1.35) | 0.12 | 1.10 (0.76 −1.59) | 0.63 |
p.Pro187Ser | ||||||||||
TP53 /c.215C>G | 2135 vs 3738 (3) | 1.16 (1.04 −1.30) | 0.008 | 1.17 (0.94 −1.47) | 0.17 | 7414 vs 9872 (27) | 1.01 (0.89 −1.14) | 0.90 | 1.04 (0.82 −1.31) | 0.77 |
p.Arg72Pro | ||||||||||
PPARG /c.34C>G | 1730 vs 2953 (3) | 1.08 (0.94 −1.25) | 0.29 | 1.14 (0.73 −1.80) | 0.56 | 1 5091 vs 18 690 (17) | 0.98 (0.86 −1.11) | 0.72 | 0.91 (0.73 −1.12) | 0.37 |
p.Pro12Ala | ||||||||||
SLC19A1 /c.80G>A | 3614 vs 11 467 (4) | 0.99 (0.90 −1.08) | 0.79 | 1.08 (0.85 −1.35) | 0.53 | – | – | – | – | – |
p.His27Arg | ||||||||||
TGFB1 /c.29C>T | 2840 vs 4218 (4) | 1.06 (0.95 −1.18) | 0.29 | 1.04 (0.89 −1.20) | 0.63 | – | – | – | – | – |
p.Pro10Leu | ||||||||||
TGFB1 /c.-1347T>C | 2395 vs 3902 (4) | 1.05 (0.94 −1.17) | 0.38 | 1.07 (0.90 −1.28) | 0.45 | 994 vs 2335 (5) | 1.12 (0.91 −1.37) | >0.05 | 1.62 (1.30 −2.02) | <0.05 |
TGFB1 /c.74G>C | 1011 vs 1329 (3) | 1.04 (0.78 −1.38) | 0.80 | 1.97 (0.72 −5.37) | 0.18 | – | – | – | – | – |
p.Arg25Pro | ||||||||||
TYMS /TS tandem repeat | 1633 vs 2034 (3) | 0.90 (0.77 −1.06) | 0.20 | 0.94 (0.77 −1.13) | 0.49 | 3519 vs 5289 (5) | 0.86 (0.78 −0.95) | 0 | 0.83 (0.73 −0.94) | 0.004 |
VDR /c.1024+283G>A | 2403 vs 4356 (5) | 1.01 (0.91 −1.14) | 0.80 | 1.00 (0.86 −1.15) | 0.96 | 5607 vs 6202 (7) | 0.77 (0.58 −1.02) | 0.07 | 0.51 (0.28 −0.90) | 0.02 |
XPD /c.2251A>C | 3363 vs 3523 (5) | 1.06 (0.96 −1.18) | 0.26 | 1.07 (0.82 −1.39) | 0.63 | – | – | – | – | – |
p.Lys751Gln | ||||||||||
XRCC1 /c.580C>T | 4821 vs 5972 (5) | 1.09 (0.98 −1.23) | 0.12 | 1.29 (0.74 −2.23) | 0.37 | 6635 vs 8488 (11) | 0.96 (0.87 −1.07) | 0.5 | 1.10 (0.82 −1.48) | 0.52 |
p.Arg194Trp | ||||||||||
XRCC1 /c.1196A>G | 5124 vs 6927 (6) | 0.98 (0.90 −1.07) | 0.61 | 0.86 (0.72 −1.03) | 0.11 | 7247 vs 8786 (12) | 0.99 (0.92 −1.06) | 0.72 | 0.88 (0.79 −0.97) | 0.02 |
p.Arg399Gln | ||||||||||
XRCC3 /c.722C>T | 3183 vs 4514 (4) | 0.92 (0.83 −1.02) | 0.10 | 0.92 (0.79 −1.07) | 0.29 | 4484 vs 5235 (10) | 0.92 (0.84 −1.01) | 0.09 | 0.95 (0.72 −1.24) | 0.68 |
p.Thr241M | ||||||||||
8q24.21/rs6983267 | 3559 vs 9586 (8) | 1.20 (1.08 −1.33) | 0.0006 | 1.51 (1.27 −1.79) | 2.1x10 −6 | 4 0604 vs 42 672 (19) | 1.22 (1.16 −1.28) | <0.0005 | 1.45 (1.39 −1.51) | <0.0005 |
Note : The associations which were considered to be “positives” or “less credible positives” are indicated in bold type.