Table 4.
Comparison of allelic frequencies of CYP1A1, CYP1A2, CYP2A6, CYP3A4, CYP3A5, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP2E1, GSTM1, GSTT1, UGT2B7, and MTHFR in Caucasian, Japanese, and Chilean populations.
| Alle Frequencies |
||||||||
|---|---|---|---|---|---|---|---|---|
| Enzyme | Allele | rs | Gene change(protein change) | Enzyme activity | Chilean | Caucasian | Japanese | Reference |
| CYP1A1 | *2A | rs4646903 | T3801C | Increased | 0.37 | 0.36 | 0.09 | Murata et al. (2001) |
| *2C | rs1048943 | A2454G (I462V) | Decreased | 0.32 | 0.22 | 0.05 | Murata et al. (2001) | |
| CYP1A2 | *1F | rs762551 | C-163A | Higher inducibility | 0.77 | 0.68 | 0.61 | Sachse et al. (1999), Skarke et al. (2005), Chida et al. (1999) |
| CYP2A6 | *2 | rs1801272 | T479A (L160H) | None | 0.02 | 0.02 | 0.00 | Nakajima et al. (2006), Chen et al. (1999) |
| *3 | rs56256500 | CYP2A6/CYP2A7 hybrid | Decreased? | 0.00 | 0.00 | 0.00 | ||
| *4 | rs3892097 | Deletion | None | 0.04 | 0.00 | 0.19 | ||
| CYP3A4 | *1B | rs2740574 | A-392G | Decreased | 0.06 | 0.04 | 0.00 | Paris et al. (1999) |
| *17 | rs4987161 | T15615C | Decreased | 0.00 | 0.00 | 0.00 | ||
| CYP3A5 | *3 | rs776746 | A6986G Splicing defect | Decreased | 0.76 | 0.70 | 0.75 | Kurose et al. (2012), Roy et al. (2005) |
| CYP2C8 | *3 | rs10509681 | G2130A, A30411G (R139K, K399R) | Decreased | 0.06 | 0.16 | 0.00 | Agúndez et al. (2009) |
| CYP2C9 | *2 | rs1799853 | C3608T (R144C) | Decreased | 0.06 | 0.08 | 0.00 | Agúndez et al. (2009), Sullivan-Klose et al. (1996), Nasu et al. (1997) |
| *3 | rs1057910 | A42614C (I359L) | Decreased | 0.04 | 0.06 | 0.03 | ||
| CYP2C19 | *2 | rs28399504 | G19154A Splicing defect | None | 0.12 | 0.14 | 0.23 | Kurose et al. (2012) |
| *3 | rs4986893 | G17948A W212X | None | 0.00 | 0.00 | 0.11 | ||
| CYP2D6 | *2 | rs16947 | C2850T (R296C) | Normal | 0.41 | 0.32 | 0.13 | Kurose et al. (2012) |
| *3 | rs35742686 | del2549A(259 Frame shift) | None | 0.01 | 0.02 | 0.00 | ||
| *4 | rs3892097 | G1846A Splicing defect | None | 0.12 | 0.21 | 0.00 | ||
| CYP2E1 | *5B | rs2031920/rs3813867 | G-1293C/C-1053T | Decreased | 0.15 | 0.04 | 0.20 | Krishnakumar et al. (2012) |
| *6 | rs6413432 | T7632A | Decreased | 0.22 | 0.08 | 0.29 | Krishnakumar et al. (2012) | |
| GSTM1 | null | SNP500Cancer ID – GSTM1-02 | Null deletion | None | 0.20 | 0.45 | 0.55 | Kurose et al. (2012) |
| GSTT1 | null | SNP500Cancer ID – GSTT1-02 | Null Deletion | None | 0.11 | 0.52 | 0.20 | Kurose et al. (2012) |
| UGT2B7 | *2 | rs7439366 | C802T (H268Y) | Decreased | 0.40 | 0.49 | 0.27 | Bhasker et al. (2000) |
| MTHFR | T | rs1801133 | C677T (A222V) | Thermolabile enzyme | 0.52 | 0.41 | 0.32 | Matsuo et al. (2001), Chen et al. (1998) |