Allele frequencies in RCC cases and controlsa
| Enzyme | Allele or genotype | Frequency (%) | ||
|---|---|---|---|---|
| Controls | Referencesb | Cases | ||
| CYP1A1c | CYP1A1*1 (wt) | 86.2 | 89.3 | 81.9 |
| CYP1A1*2A | 5.5 | 5.0 | 8.2 | |
| CYP1A1*2B | 2.8 | 2.7 | 3.5 | |
| CYP1A1*3 | 0.0 | 0.0 | 0.0 | |
| CYP1A1*4 | 5.5 | 3.0 | 6.4 | |
| CYP2D6 | CYP2D6 (wt)d | 73.0 | 72.5 | 71.2 |
| CYP2D6*3 | 1.4 | 1.8 | 1.2 | |
| CYP2D6*4 | 19.7 | 20.4 | 18.9 | |
| CYP2D6*5 | 2.6 | 2.5 | 4.6 | |
| CYP2D6*6 | 1.9 | 1 | 1.2 | |
| CYP2D6*8 | 0.0 | <0.1 | 0.0 | |
| CYP2D6*10 | 1.4 | 1.7 | 2.9 | |
| CYP2D6*12 | 0.0 | <0.1 | 0.0 | |
| CYP2D6*14 | 0.0 | 0.0 | 0.0 | |
| NQO1 | NQO1*1 (wt) | 80.5 | 81.3 | 76.3 |
| NQO1*2 | 19.5 | 18.7 | 23.7 | |
| GSTM1 | GSTM1*0/*0 | 55.5 | 53.3 | 51.4 |
| GSTM1*A/*A and GSTM1*A/*0 | 22.7 | 30.3 | 29.5 | |
| GSTM1*B/*B and GSTM1*B/*0 | 17.5 | 13.0 | 13.9 | |
| GSTM1*A/*B | 4.3 | 3.4 | 5.2 | |
| GSTT1 | GSTT1 wt/wt and GSTT1 wt/*0 | 81.0 | 80.5 | 85.6 |
| GSTT1*0/*0 | 19.0 | 19.5 | 14.4 | |
| GSTP1 | GSTP1*A (wt) | 69.0 | 70.3 | 65.3 |
| GSTP1*B | 31.0 | 29.7 | 34.7 | |
| GSTP1*C | 0.0 | −e | 0.0 | |
| NAT2 | NAT2*4 (wt) | 25.3 | 24.3 | 23.3 |
| NAT2*5 | 45.3 | 46.5 | 48.1 | |
| NAT2*6 | 28.0 | 27.3 | 26.4 | |
| NAT2*7 | 1.2 | 1.8 | 1.9 | |
| NAT2*14 | 0.2 | <0.1 | 0.3 | |
a The frequencies obtained are for: 210–211 controls and 171–173 RCC cases for CYP1A1, CYP2D6, NQO1, GSTM1, and GSTT1; 211 controls and 159 RCC patients for NAT2; and 189 controls and 160 RCC patients for GSTP1.
b Reference data are taken from studies with European Caucasians, restricted to those with similar distributions of age and sex, as the control subjects: 880 individuals (42) for CYP1A1; 784 individuals (33 , 43) for CYP2D6; 235 individuals (20 , 44) for NQO1; 950 individuals (18 , 45) for GSTM1; 867 individuals (18 , 45) for GSTT1; 180 individuals (46) for GSTP1; and 1128 individuals (18 , 47 48 49) for NAT2.
c Nomenclature of alleles is as described by Cascorbi et al. (42) .
d CYP2D6 (wt) represents the alleles associated with normal or ultrarapid CYP2D6 activity; the CYP2D6*10 allele has also been excluded from the PM alleles (33 , 50) .
e No data have been reported with regards to GSTP1*C allele frequency in Caucasians.