Table 3.
Genotypes of the dysfunctional variants on the 197 cases and 254 controls of the primary sample set
| Variant | Gene | MAF* | Cases, n (%) | Controls, n (%) | OR† | P-Value† |
|---|---|---|---|---|---|---|
| Arg48His | ADH1B | 0.21 | ||||
| Arg/Arg | 129 (66.5) | 145 (57.3) | 1.00 | 1.00 | ||
| Arg/His | 59 (30.5) | 96 (37.9) | 0.66 | 0.04 | ||
| His/His | 6 (3.0) | 12 (4.8) | 0.70 | 0.17 | ||
| Dominant | 0.64 | 0.03 | ||||
| Recessive | 0.61 | 0.33 | ||||
| Glu487Lys | ALDH2 | 0.01 | ||||
| Glu/Glu | 196 (99.5) | 248 (98.4) | 1.00 | 1.00 | ||
| Glu/Lys | 1 (0.5) | 4 (1.6) | 0.28 | 0.22 | ||
| Lys/Lys | 0 (0.0) | 0 (0.0) | --- | --- | ||
| c.870A>G | CCND1 | 0.48 | ||||
| A/A | 53 (27.2) | 79 (31.6) | 1.00 | 1.00 | ||
| A/G | 83 (42.6) | 116 (46.4) | 1.09 | 0.72 | ||
| G/G | 59 (30.2) | 55 (22.0) | 1.30 | 0.04 | ||
| Dominant | 1.27 | 0.26 | ||||
| Recessive | 1.61 | 0.03 | ||||
| Ala148Thr | CDKN2A | 0.03 | ||||
| Ala/Ala | 186 (95.9) | 235 (94.0) | 1.00 | 1.00 | ||
| Ala/Thr | 8 (4.1) | 15 (6.0) | 0.71 | 0.45 | ||
| Thr/Thr | 0 (0.0) | 0 (0.0) | --- | --- | ||
| Ile462Val | CYP1A1 | 0.13 | ||||
| Ile/Ile | 149 (75.6) | 186 (74.1) | 1.00 | 1.00 | ||
| Ile/Val | 47 (23.8) | 61 (24.3) | 0.98 | 0.92 | ||
| Val/Val | 1 (0.6) | 4 (1.6) | 0.50 | 0.18 | ||
| Dominant | 0.96 | 0.86 | ||||
| c.-1019C>T | CYP2E1 | 0.05 | ||||
| C/C | 175 (91.1) | 225 (90.4) | 1.00 | 1.00 | ||
| C/T | 15 (7.8) | 24 (9.6) | 0.76 | 0.42 | ||
| T/T | 2 (1.1) | 0 (0.0) | --- | --- | ||
| Dominant | 0.83 | 0.59 | ||||
| Arg293Gln | ECRG1 | 0.28 | ||||
| Arg/Arg | 103 (52.8) | 130 (52.0) | 1.00 | 1.00 | ||
| Arg/Gln | 70 (35.9) | 101 (40.4) | 0.84 | 0.39 | ||
| Gln/Gln | 22 (11.3) | 19 (7.6) | 1.24 | 0.21 | ||
| Dominant | 0.96 | 0.84 | ||||
| Recessive | 1.69 | 0.12 | ||||
| Asp312Asn | ERCC2 | 0.37 | ||||
| Asp/Asp | 77 (40.1) | 104 (41.8) | 1.00 | 1.00 | ||
| Asp/Asn | 87 (45.3) | 115 (46.2) | 1.06 | 0.77 | ||
| Asn/Asn | 28 (14.6) | 30 (12.0) | 1.15 | 0.39 | ||
| Dominant | 1.14 | 0.50 | ||||
| Recessive | 1.27 | 0.40 | ||||
| Lys751Gln | ERCC2 | 0.36 | ||||
| Lys/Lys | 77 (39.1) | 99 (39.3) | 1.00 | 1.00 | ||
| Lys/Gln | 94 (47.7) | 119 (47.2) | 1.06 | 0.77 | ||
| Gln/Gln | 26 (13.2) | 34 (13.5) | 1.02 | 0.90 | ||
| Dominant | 1.06 | 0.76 | ||||
| Recessive | 1.03 | 0.93 | ||||
| Ile105Val | GSTP1 | 0.28 | ||||
| Ile/Ile | 103 (52.6) | 126 (50.4) | 1.00 | 1.00 | ||
| Ile/Val | 77 (39.3) | 105 (42.0) | 0.90 | 0.63 | ||
| Val/Val | 16 (8.1) | 19 (7.6) | 0.99 | 0.96 | ||
| Dominant | 0.90 | 0.58 | ||||
| Recessive | 1.07 | 0.84 | ||||
| Lys178Arg | MGMT | 0.14 | ||||
| Lys/Lys | 163 (83.2) | 213 (84.9) | 1.00 | 1.00 | ||
| Lys/Arg | 30 (15.3) | 35 (13.9) | 1.14 | 0.64 | ||
| Arg/Arg | 3 (1.5) | 3 (1.2) | 1.17 | 0.71 | ||
| Dominant | 1.14 | 0.62 | ||||
| Leu84Phe | MGMT | 0.09 | ||||
| Leu/Leu | 142 (72.4) | 185 (74.0) | 1.00 | 1.00 | ||
| Leu/Phe | 53 (27.0) | 63 (25.2) | 1.02 | 0.92 | ||
| Phe/Phe | 1 (0.6) | 2 (0.8) | 0.76 | 0.65 | ||
| Dominant | 1.03 | 0.90 | ||||
| Glu429Ala | MTHFR | 0.40 | ||||
| Glu/Glu | 74 (75.6) | 94 (74.1) | 1.00 | 1.00 | ||
| Glu/Ala | 92 (23.8) | 109 (24.3) | 1.03 | 0.88 | ||
| Ala/Ala | 29 (0.6) | 47 (1.6) | 0.86 | 0.30 | ||
| Dominant | 0.94 | 0.75 | ||||
| Recessive | 0.73 | 0.23 | ||||
| Ala222Val | MTHFR | 0.25 | ||||
| Ala/Ala | 102 (52.3) | 151 (60.4) | 1.00 | 1.00 | ||
| Ala/Val | 79 (40.5) | 84 (33.6) | 1.47 | 0.09 | ||
| Val/Val | 14 (7.2) | 15 (6.0) | 1.16 | 0.46 | ||
| Dominant | 1.44 | 0.10 | ||||
| Recessive | 1.10 | 0.81 | ||||
| Ser326Cys | OGG1 | 0.32 | ||||
| Ser/Ser | 91 (46.4) | 124 (49.4) | 1.00 | 1.00 | ||
| Ser/Cys | 76 (38.8) | 102 (40.6) | 1.03 | 0.87 | ||
| Cys/Cys | 29 (14.8) | 25 (10.0) | 1.20 | 0.24 | ||
| Dominant | 1.10 | 0.62 | ||||
| Recessive | 1.36 | 0.30 | ||||
| Arg72Pro | TP53 | 0.36 | ||||
| Arg/Arg | 77 (39.3) | 108 (43.0) | 1.00 | 1.00 | ||
| Arg/Pro | 90 (45.9) | 116 (46.2) | 1.12 | 0.59 | ||
| Pro/Pro | 29 (14.8) | 27 (10.8) | 1.17 | 0.31 | ||
| Dominant | 1.18 | 0.39 | ||||
| Recessive | 1.36 | 0.29 | ||||
| Arg399Gln | XRCC1 | 0.37 | ||||
| Lys/Lys | 78 (39.1) | 94 (39.3) | 1.00 | 1.00 | ||
| Lys/Gln | 89 (47.7) | 120 (47.2) | 0.93 | 0.71 | ||
| Gln/Gln | 26 (13.2) | 35 (13.5) | 1.00 | 0.98 | ||
| Dominant | 0.91 | 0.62 | ||||
| Recessive | 1.02 | 0.94 | ||||
| Gly286Glu(M3) | NAT2 | 0.08 | ||||
| Gly/Gly | 165 (84.2) | 209 (83.6) | 1.00 | 1.00 | ||
| Gly/Glu | 29 (14.8) | 39 (15.6) | 0.86 | 0.57 | ||
| Glu/Glu | 2 (1.0) | 2 (0.8) | 0.90 | 0.84 | ||
| Dominant | 0.86 | 0.56 | ||||
| M1 ‡ | NAT2 | |||||
| wt/wt | 97 (51.9) | 130 (53.3) | 1.00 | 1.00 | ||
| wt/m1 | 77 (41.2) | 93 (38.1) | 1.12 | 0.58 | ||
| m1/m1 | 13 (6.9) | 21 (8.6) | 0.92 | 0.67 | ||
| Dominant | 1.07 | 0.72 | ||||
| Recessive | 0.90 | 0.56 | ||||
| M2 ‡ | NAT2 | |||||
| wt/wt | 91 (46.7) | 114 (45.8) | 1.00 | 1.00 | ||
| wt/m2 | 84 (43.1) | 102 (41.0) | 1.01 | 0.97 | ||
| m2/m2 | 20 (10.2) | 33 (13.2) | 0.91 | 0.54 | ||
| Dominant | 0.96 | 0.83 | ||||
| Recessive | 0.90 | 0.50 |
*
Minor Allele Frequency
†
P-value and odds ratio (OR) are adjusted for age using multivariate logistic regression analysis.
‡
M1: combination of Ile114Thr and Leu161Leu variants; M2: combination of Arg197Gln and Tyr94Tyr variants