Table 1.
Genes, genetic variations, genotype and allele frequencies in women and men.
| Gene (site) ID number | Type of variation | Genotype (amino acid change) | N°pts W/M | W/M genotype N° patients (genotype frequency W/M) | Allele Frequency W/M | ||||
|---|---|---|---|---|---|---|---|---|---|
| AA | Aa | aa | p-value* | A | a | ||||
| TYMS (5′UTR) rs34743033 | VNTR§ | 3 R > 2 R | 217/294 | 67 (0.31)/106 (0.36) | 108 (0.50)/130 (0.44) | 42 (0.19)/58 (0.20) | 0.4017 | 0.56/0.58 | 0.44/0.42 |
| TYMS (5′UTR) rs2853542 | SNP§ | G > C in 3 R | 217/294 | 117 (0.54)/146 (0.50) | — | 100 (0.46)/148 (0.50) | 0.3412 | 0.54/0.50 | 0.46/0.50 |
| TYMS (3′UTR) rs11280056 | 6 bp deletion | Insertion/Deletion | 217/294 | 82 (0.38)/105 (0.36) | 101 (0.47)/135 (0.46) | 34 (0.16)/54 (0.18) | 0.7098 | 0.60/0.59 | 0.40/0.41 |
| MTHFR (exon 4) rs1801133 | SNP | C > T (Ala222Val) | 217/293 | 71 (0.33)/90 (0.31) | 101 (0.47)/148 (0.51) | 45 (0.21)/55 (0.19) | 0.6683 | 0.56/0.56 | 0.44/0.44 |
| MTHFR (exon 7) rs1801131 | SNP | A > C (Glu429Ala) | 217/293 | 109 (0.50)/142 (0.48) | 88 (0.41)/125 (0.43) | 20 (0.09)/26 (0.09) | 0.8922 | 0.70/0.70 | 0.30/0.30 |
| ERCC1 (exon 4) rs11615 | SNP | T > C (Asn118Asn) | 218/294 | 86 (0.39)/111 (0.38) | 100 (0.46)/128 (0.44) | 32 (0.15)/55 (0.19) | 0.4862 | 0.62/0.60 | 0.38/0.40 |
| XRCC1 (exon 10) rs25487 | SNP | G > A (Gln399Arg) | 215/291 | 90 (0.42)/119 (0.41) | 97 (0.45)/142 (0.49) | 28 (0.13)/30 (0.10) | 0.5551 | 0.64/0.65 | 0.36/0.35 |
| XPD (exon 10) rs1799793 | SNP | G > A (Asp312Asn) | 210/285 | 85 (0.40)/125 (0.44) | 89 (0.42)/127 (0.45) | 36 (0.17)/33 (0.12) | 0.2070 | 0.62/0.66 | 0.38/0.34 |
| XPD (exon 23) rs13181 | SNP | T > G (Lys751Gln) | 214/294 | 78 (0.36)/113 (0.38) | 99 (0.46)/137 (0.47) | 37 (0.17)/44 (0.15) | 0.7586 | 0.60/0.62 | 0.40/0.38 |
| XRCC3 (exon 7) rs861539 | SNP | C > T (Thr241Met) | 213/291 | 63 (0.30)/108 (0.37) | 105 (0.49)/138 (0.47) | 45 (0.21)/45 (0.15) | 0.1132 | 0.54/0.61 | 0.46/0.39 |
| GSTPI (exon 5) rs1695 | SNP | A > G (Ile105Val) | 217/293 | 94 (0.43)/150 (0.51) | 104 (0.48)/121 (0.41) | 19 (0.09)/22 (0.08) | 0.2123 | 0.67/0.72 | 0.33/0.28 |
| GST-T1‡ | Deletion | Yes/No | 217/294 | 176 (0.81)/243 (0.83) | — | 41 (0.19)/51 (0.17) | 0.6528 | 0.81/0.83 | 0.19/0.17 |
| GST-M1‡ | Deletion | Yes/No | 217/294 | 112 (0.52)/150 (0.51) | — | 105 (0.48)/144 (0.49) | 0.8946 | 0.52/0.51 | 0.48/0.49 |
| ABCC1 (intron) rs2074087 | SNP | G > C | 202/277 | 144 (0.71)/197 (0.71) | 54 (0.27)/73 (0.26) | 4 (0.02)/7 (0.03) | 0.9236 | 0.85/0.84 | 0.15/0.16 |
| ABCC2 (exon 28) rs3740066 | SNP | G > A (Ile1324Ile) | 216/293 | 86 (0.40)/102 (0.35) | 99 (0.46)/145 (0.49) | 31 (0.14)/46 (0.16) | 0.5122 | 0.63/0.60 | 0.37/0.40 |
| ABCC2 (5′flank) rs1885301 | SNP | G > A | 217/285 | 81 (0.37)/76 (0.27) | 89 (0.41)/149 (0.52) | 47 (0.22)/60 (0.21) | 0.0203 | 0.58/0.53 | 0.42/0.47 |
| ABCC2 (intron) rs4148386 | SNP | A > G | 217/294 | 85 (0.39)/79 (0.27) | 87 (0.40)/157 (0.53) | 45 (0.21)/58 (0.20) | 0.0050 | 0.59/0.54 | 0.41/0.46 |
A: major allele frequency; a: minor allele frequency; VNTR: variable number of tandem repeats; SNP: single nucleotide polymorphism; bp: base pair; pts: patients; W/M: women/men;
§TYMS VNTR: is a tandem repeat polymorphism, results are stated as three copies of the repeat (AA) or two copies of the repeat (aa). The VNTR polymorphism is reanalyzed according to a SNP in 3 R carriers.
‡GST -T1 and -M1 are deletion polymorphisms, resulte are stated as the number of patients with at least one copy of the gene (AA) vs patients with homozygous gene deletion (aa). *Chi-squared test women vs men.