Table 2. Genotype and allele frequencies for the genetic polymorphisms tested.
|
Patients
|
Allele frequency in all patients (n=131)
|
||||
|---|---|---|---|---|---|
| Genotype | Group 1, n=96 | Group 2, n=35 | p | q | HWE P-valuea in Caucasians |
| TYMS 3R G>C (number of E-boxes) | |||||
| 2RC/2RG or 2RC/3RC (1) | 3 | 0 | 2RG: 0.450 | >0.99 | |
| 2RC/3RG or 2RG/2RG or 2RG/3RC or 3RC/3RC (2) | 60 | 12 | 2RC: 0.015 | ||
| 2RG/3RG or 3RG/3RC (3) | 32 | 17 | 3RG: 0.225 | ||
| 2RG/4R or 3RC/4R or 3RG/3RG (4) | 1 | 5 | 3RC: 0.298 | ||
| 3RG/4R (5) | 0 | 1 | 4R: 0.012 | ||
| TYMS c.280-499G>A | |||||
| GG | 64 | 19 | 0.79 | 0.21 | >0.99 |
| GA | 28 | 13 | |||
| AA | 4 | 3 | |||
| TYMS c.205+117G>C | |||||
| GG | 68 | 20 | 0.68 | ||
| GC | 25 | 10 | 0.81 | 0.19 | |
| CC | 2 | 5 | |||
| ND | 1 | 0 | |||
| MTHFR 677C>T | |||||
| CC | 39 | 21 | 0.68 | 0.32 | 0.53 |
| CT | 46 | 13 | |||
| TT | 11 | 1 | |||
| MTHFR 1298A>C | |||||
| AA | 41 | 17 | 0.67 | 0.33 | 0.84 |
| AC | 45 | 15 | |||
| CC | 10 | 3 | |||
| UGT1A1(TA)nTAA (a28) | |||||
| (TA)5/(TA)6 | 0 | 1 | 0.50 | ||
| (TA)5/(TA)7 | 3 | 0 | (TA)5: 0.015 | ||
| (TA)6/(TA)6 | 42 | 16 | (TA)6: 0.664 | ||
| (TA)6/(TA)7 | 41 | 14 | (TA)7: 0.298 | ||
| (TA)7/(TA)7 | 8 | 3 | (TA)8: 0.012 | ||
| (TA)6/(TA)8 | 1 | 1 | |||
| (TA)7/(TA)8 | 1 | 0 | |||
| UGT1A1 –3156G>A (a93) | |||||
| GG | 47 | 20 | 0.73 | 0.27 | 0.64 |
| GA | 44 | 12 | |||
| AA | 5 | 3 | |||
| SLCO1B1 388A>G | |||||
| AA | 29 | 11 | 0.53 | 0.47 | >0.99 |
| AG | 46 | 12 | |||
| GG | 21 | 12 | |||
| ABCC1 c.1474-48C>T | |||||
| CC | 74 | 31 | 0.90 | 0.10 | >0.99 |
| CT | 19 | 4 | |||
| TT | 1 | 0 | |||
| ND | 2 | ||||
| DPYD c.1905+1G>A | |||||
| GG | 96 | 35 | 1.00 | 0.00 | >0.99 |
| GA | 0 | 0 | |||
| AA | 0 | 0 | |||
Abbreviations: HWE=Hardy–Weinberg equilibrium; MTHFR=methylenetetrahydrofolate reductase.
a
Calculated with Fisher's exact test, except for TYMS 3R G>C and UGT1A1(TA)nTAA that were calculated with χ2 test. The P-values reported are uncorrected for multiple comparisons.