Table 3.
Gene/variant | Cases vs controls (number of samples) |
RECESSIVE MODEL: var/var vs wt/wt & wt/var
|
DOMINANT MODEL: wt/var & var/var vs wt/wt
|
||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N |
Effect size
|
Heterogeneity
|
Power | N |
Effect size
|
Heterogeneity
|
Power | ||||||
OR (95% CI) | P -value | I 2 (95% CI) | P -value | OR (95% CI) | P -value | I 2 (95% CI) | P- value | ||||||
APC /c.5465T>A | 2805 vs 4369 (4 * ) | 4 | 0.86 (0.69 −1.07) | 0.18 | 0 (0 −93) | 0.44 | 0.25 | 4 | 0.97 (0.88 −1.07) | 0.53 | 0 (0 −67) | 0.90 | 0.09 |
p.Val1822Asp | |||||||||||||
BHMT /c.716G>A | 3691 vs 12 174 (4 * §) | 4 | 0.97 (0.77 −1.22) | 0.80 | 60 (0 −99) | 0.06 | 0.07 | 4 | 0.94 (0.87 −1.02) | 0.13 | 0 (0 −84) | 0.84 | 0.38 |
p.Arg239Gln | |||||||||||||
PTGS1 /c.22T>C | 2551 vs 4342 (4 * §) | 4 | 0.64 (0.28 −1.47) | 0.29 | 0 (0 −45) | 0.94 | 0.18 | 4 | 1.04 (0.90 −1.21) | 0.60 | 0 (0 −95) | 0.44 | 0.09 |
p.Trp8Arg | |||||||||||||
PTGS1 /c.382C>A p.Leu237Met | 1337 vs 1928 (3§) | 2 | n/a | n/a | n/a | n/a | n/a | 3 | 1.03 (0.74 −1.42) | 0.87 | 0 (0 −91) | 0.79 | 0.06 |
PTGS2 /c.-765G>C | 1507 vs 2042 (4) | 3 | 0.76 (0.46 −1.27) | 0.30 | 4 (0 −98) | 0.35 | 0.21 | 4 | 0.86 (0.72 −1.03) | 0.10 | 21 (0 −96) | 0.28 | 0.46 |
PTGS2 /c. * 427T>C | 2643 vs 4616 (6 * §) | 6 | 1.08 (0.90 −1.30) | 0.39 | 54 (0 −94) | 0.05 | 0.31 | 6 | 1.06 (0.92 −1.22) | 0.44 | 0 (0 −78) | 0.57 | 0.16 |
PTGS2 /c.640-275T>G | 2492 vs 4423 (5 * §) | 5 | 1.12 (0.85 −1.49) | 0.43 | 25 (0 −90) | 0.25 | 0.2 | 5 | 0.96 (0.86 −1.08) | 0.50 | 4 (0 −95) | 0.39 | 0.13 |
CRP /c. * 1082G>A | 2016 vs 3465 (3) | 3 | 1.14 (0.84 −1.55) | 0.40 | 67 (0 −99) | 0.05 | 0.44 | 3 | 1.03 (0.82 −1.29) | 0.80 | 65 (0 −99) | 0.06 | 0.08 |
CYP1A1 /c.1384A>G | 1846 vs 1853 (3) | 2 | n/a | n/a | n/a | n/a | n/a | 3 | 1.04 (0.84 −1.28) | 0.73 | 35 (0 −99) | 0.22 | 0.07 |
p.Ile462Val | |||||||||||||
CYP1A1 /c. * 1189T>C | 3126 vs 5079 (5 * §) | 5 | 0.79 (0.54 −1.15) | 0.22 | 0 (0 −0) | 0.99 | 0.27 | 5 | 0.89 (0.99 −1.01) | 0.06 | 0 (0 −89) | 0.50 | 0.57 |
CYP1A2 /c.-9-154C>A | 2689 vs 4373 (4 * ) | 4 | 1.08 (0.89 −1.30) | 0.45 | 0 (0 −80) | 0.88 | 0.14 | 4 | 1.01 (0.92 −1.12) | 0.79 | 0 (0 −96) | 0.51 | 0.06 |
GSTM1 | 3952 vs 3514 (7) | n/a | n/a | n/a | n/a | n/a | n/a | 7 | 1.03 (0.94 −1.13) | 0.50 | 26 (0 −88) | 0.23 | 0.10 |
GSTP1 /c.313A>G | 3945 vs 5320 (6 * §) | 6 | 1.00 (0.88 −1.15) | 0.95 | 0 (n/a −n/a) | 0.99 | 0.05 | 6 | 1.00 (0.91 −1.09) | 0.91 | 0 (0 −80) | 0.52 | 0.06 |
p.Ile105Val | |||||||||||||
GSTP1 /c.341C>T | 1316 vs 1973 (3§) | 3 | 0.78 (0.29 −2.12) | 0.63 | 0 (0 −96) | 0.39 | 0.09 | 3 | 0.85 (0.70 −1.04) | 0.12 | 0 (0 −91) | 0.71 | 0.35 |
p.Ala114Val | |||||||||||||
GSTT1 | 4345 vs 3964 (8) | n/a | n/a | n/a | n/a | n/a | n/a | 8 | 1.06 (0.95 −1.19) | 0.31 | 0 (0 −68) | 0.32 | 0.21 |
MEH /c.337T>C | 7387 vs 8774 (12 * §) | 11 | 0.95 (0.85 −1.05) | 0.31 | 15 (0 −77) | 0.30 | 0.16 | 12 | 0.96 (0.90 −1.03) | 0.23 | 0 (0 −58) | 0.69 | 0.25 |
p.Tyr113His | |||||||||||||
MEH /c.416A>G | 7424 vs 8845 (12 * §) | 12 | 1.10 (0.94 −1.29) | 0.25 | 14 (0 −72) | 0.31 | 0.23 | 12 | 1.01 (0.94 −1.08) | 0.78 | 0 (0 −57) | 0.54 | 0.06 |
p.His139Arg | |||||||||||||
MTHFR /c.677C>T | 11362 vs 23 006 (24 * §) | 23 | 0.98 (0.91 −1.06) | 0.62 | 0 (0 −24) | 0.93 | 0.08 | 22 | 0.95 (0.90 −1.00) | 0.04 | 0 (0 −13) | 0.95 | 0.77 |
p.Ala222Val | |||||||||||||
MTHFR /c1286A>C | 6760 vs 15 498 (10 * ) | 10 | 1.07 (0.97 −1.18) | 0.20 | 0 (0 −88) | 0.73 | 0.28 | 9 | 1.03 (0.97 −1.10) | 0.37 | 0 (0 −73) | 0.72 | 0.17 |
p.Glu429Ala | |||||||||||||
MTRR /c.66A>G | 2911 vs 9342 (3) | 3 | 0.93 (0.84 −1.02) | 0.13 | 0 (0 −97) | 0.58 | 0.31 | 3 | 0.92 (0.83 −1.02) | 0.12 | 0 (0 −96) | 0.6 | 0.41 |
p.Ile22Met | |||||||||||||
MTR /c.2756A>G | 4730 vs 13 710 (7 * §) | 7 | 1.00 (0.83 −1.19) | 0.96 | 0 (0 −76) | 0.52 | 0.05 | 7 | 1.03 (0.96 −1.11) | 0.43 | 0 (0 −78) | 0.75 | 0.13 |
p.Asp919Gly | |||||||||||||
NAT1 | 2347 vs 3143 (5) | 4 | 1.10 (0.95 −1.26) | 0.20 | 0 (0 −79) | 0.79 | 0.30 | 4 | 1.12 (0.96 −1.32) | 0.16 | 41 (0 −98) | 0.18 | 0.50 |
NAT2 | 4092 vs 4731 (9) | 8 | 0.88 (0.76 −1.02) | 0.09 | 0 (0 −57) | 0.88 | 0.42 | 6 | 0.97 (0.90 −1.05) | 0.48 | 41 (0 −83) | 0.11 | 0.11 |
NQO1 /c.559C>T | 4097 vs 5967 (6 * §) | 6 | 1.24 (0.98 −1.56) | 0.07 | 0 (0 −78) | 0.69 | 0.59 | 6 | 1.10 (1.01 −1.20) | 0.03 | 39 (0 −92) | 0.15 | 0.61 |
p.Pro187Ser | |||||||||||||
TP53 /c.215C>G | 2135 vs 3738 (3 * ) | 3 | 1.10 (0.88 −1.37) | 0.39 | 0 (0 −97) | 0.63 | 0.15 | 3 | 1.16 (1.05 −1.30) | 0.005 | 38 (0 −99) | 0.20 | 0.78 |
p.Arg72Pro | |||||||||||||
PPARG /c.34C>G | 1730 vs 2953 (3 * ) | 3 | 1.12 (0.71 −1.77) | 0.61 | 0 (0 −99) | 0.38 | 0.07 | 3 | 1.09 (0.94 −1.25) | 0.25 | 0 (0 −90) | 0.77 | 0.23 |
p.Pro12Ala | |||||||||||||
SLC19A1 /c.80G>A | 3614 vs 11 467 (4 * §) | 4 | 1.07 (0.87 −1.31) | 0.53 | 74 (24 −99) | 0.009 | 0.30 | 4 | 1.01 (0.93 −1.09) | 0.87 | 41 (0 −98) | 0.16 | 0.06 |
p.His27Arg | |||||||||||||
TGFB1 /c.29C>T | 2840 vs 4218 (4 * ) | 4 | 1.02 (0.83 −1.25) | 0.87 | 55 (0 −97) | 0.08 | 0.06 | 4 | 1.04 (0.94 −1.15) | 0.42 | 0 (0 −72) | 0.88 | 0.12 |
p.Pro10Leu | |||||||||||||
TGFB1 /c.-1347T>C | 2395 vs 3902 (4 * ) | 4 | 1.06 (0.90 −1.26) | 0.46 | 35 (0 −96) | 0.20 | 0.13 | 4 | 1.06 (0.95 −1.18) | 0.28 | 40 (0 −96) | 0.17 | 0.19 |
TGFB1 /c.74G>C | 1011 vs 1329 (3) | 3 | 1.97 (0.72 −5.37) | 0.19 | 0 (0 −94) | 0.58 | 0.20 | 3 | 1.09 (0.83 −1.43) | 0.55 | 14 (0 −97) | 0.31 | 0.1 |
p.Arg25Pro | |||||||||||||
TYMS /TS tandem repeat | 1633 vs 2034 (3) | 3 | 1.00 (0.85 −1.17) | 0.98 | 0 (0 −75) | 0.90 | 0.05 | 3 | 0.91 (0.79 −1.06) | 0.22 | 0 (0 −97) | 0.42 | 0.25 |
VDR /c.1024+283G>A | 2403 vs 4356 (5 * §) | 5 | 0.99 (0.87 −1.13) | 0.85 | 0 (0 −80) | 0.78 | 0.05 | 5 | 1.01 (0.91 −1.12) | 0.85 | 0 (0 −88) | 0.47 | 0.05 |
XPD /c.2251A>C | 3363 vs 3523 (5§) | 5 | 1.06 (0.96 −1.17) | 0.26 | 37 (0 −92) | 0.18 | 0.14 | 5 | 1.03 (0.82 −1.30) | 0.78 | 60 (0 −95) | 0.04 | 0.09 |
p.Lys751Gln | |||||||||||||
XRCC1 /c.580C>T | 4821 vs 5972 (5 * ) | 5 | 1.27 (0.74 −2.20) | 0.39 | 0 (0 −84) | 0.40 | 0.18 | 5 | 1.10 (0.98 −1.23) | 0.09 | 0 (0 −75) | 0.66 | 0.41 |
p.Arg194Trp | |||||||||||||
XRCC1 /c.1196A>G | 5124 vs 6927 (6 * §) | 6 | 0.88 (0.73 −1.05) | 0.16 | 64 (6 −95) | 0.02 | 0.70 | 6 | 0.96 (0.88 −1.04) | 0.28 | 0 (0 −75) | 0.68 | 0.19 |
p.Arg399Gln | |||||||||||||
XRCC3 /c.722C>T | 3183 vs 4514 (4 * §) | 4 | 0.97 (0.84 −1.11) | 0.63 | 0 (0 −64) | 0.92 | 0.07 | 4 | 0.92 (0.83 −1.01) | 0.08 | 0 (0 −72) | 0.85 | 0.43 |
p.Thr241M | |||||||||||||
8q24.21/rs6983267 | 3559 vs 9586 (8) | 8 | 1.31 (1.14 −1.52) | 0.0003 | 55 (0 −90) | 0.03 | 1.00 | 8 | 1.30 (1.18 −1.44) | 1.9x10 −7 | 14 (0 −83) | 0.32 | 1.00 |
Note : The associations which were considered to be “positives” or “less credible positives” are indicated in bold type.
*Includes unpublished data from the APC trial.
§Includes unpublished data from CORGI.