Table 3. Phenotypes of clinically relevant DMET markers in Korean population (n = 1,012).
| Gene* | Related drugs | Diplotype | Phenotype | Sample count (%) |
|---|---|---|---|---|
| CYP2C19 | Amitriptyline, | *1/*1 | EM | 372 (36.76) |
| clopidogrel, | *1/*17 | UM | 9 (0.89) | |
| citalopram, | *17/*17 | UM | 1 (0.10) | |
| voriconazole | *1/*2A | IM | 363 (35.87) | |
| *1/*2B | IM | 0 (0.00) | ||
| *1/*3 | IM | 106 (10.47) | ||
| *2A/*17 | IM | 9 (0.89) | ||
| *3/*17 | IM | 1 (0.10) | ||
| *2A/*2A | PM | 76 (7.51) | ||
| *2A/*2B | PM | 1 (0.10) | ||
| *2A/*3 | PM | 62 (6.13) | ||
| *3/*3 | PM | 12 (1.19) | ||
| CYP2C9 | Celecoxib, | *1/*1 | EM | NA (NA) |
| ibuprofen, | *1/*2 | PM | 1 (0.10) | |
| warfarin, | *1/*5 | PM | 0 (0.00) | |
| phenytoin | *1/*11 | PM | 0 (0.00) | |
| *1/*13 | PM | 5 (0.49) | ||
| CYP2C8 | Ibuprofen, | *1/*1 | EM | 1,011 (99.90) |
| rosiglitazone | *1/*2 | PM | 0 (0.00) | |
| *1/*3 | PM | 1 (0.10) | ||
| SLCO1B1 | Simvastatin | *1/*1 | Normal activity | 731 (72.23) |
| *1/*5 | Intermediate activity | 265 (26.19) | ||
| *5/*5 | Low activity | 16 (1.58) | ||
| VKORC1 | Warfarin | Ref/Ref | Normal activity | 14 (1.38) |
| Ref/c.-1639G>A | Decreased warfarin dose | 133 (13.14) | ||
| c.-1639G>A/c.-1639G>A | Decreased warfarin dose | 865 (85.47) | ||
| CYP4F2 | Warfarin | *1/*1 | Normal function | 473 (46.74) |
| *1/*3 | Decreased function | 434 (42.89) | ||
| *3/*3 | Decreased function | 105 (10.38) | ||
| CYP2B6 | Efavirenz | *1/*1 | Normal | NA (NA) |
| *4/*4 | UM | 58 (5.73) | ||
| *22/*22 | UM | 0 (0.00) | ||
| *4/*22 | UM | 6 (0.59) | ||
| *1/*4 | RM | 327 (32.31) | ||
| *1/*22 | RM | 5 (0.49) | ||
| CYP2D6 | Amitriptyline, | *1 or *2/*1 or *2 | NM | NA (NA) |
| atomoxetine, | *1 or *2/*10 | NM | 416 (41.11) | |
| codeine, | *1 or *2/*41 | NM | 29 (2.87) | |
| tamoxifene | *10/*10 | IM | 291 (28.75) | |
| *41/*41 | IM | 2 (0.20) | ||
| *10/*41 | IM | 18 (1.78) | ||
| *1 or *2/*8 | IM | 6 (0.59) | ||
| *4/*10 | IM | 7 (0.69) | ||
| *8/*10 | IM | 8 (0.79) | ||
| *8/*41 | IM | 0 (0.00) | ||
| *4/*4 | PM | 2 (0.20) | ||
| *4/*8 | PM | 0 (0.00) | ||
| UGT1A1 | Atazanavir, | *1/*1 | EM | NA (NA) |
| irinotecan | *1/*6 | EM | 260 (25.69) | |
| *1/*80 | EM | 180 (17.79) | ||
| *27/*27 + *80 | EM | 11 (1.09) | ||
| *27/*80 | EM | 6 (0.59) | ||
| *6/*6 | PM | 27 (2.67) | ||
| *6/*80 | PM | 38 (3.75) | ||
| *80/*80 | PM | 11 (1.09) | ||
| *27 + *80/*80 | PM | 1 (0.10) | ||
| *27/*27 + *80/*80 | PM | 1 (0.10) | ||
| *6 + *27 + *80 | PM | 5 (0.49) | ||
| *6 + *27/*27 + *80 | PM | 5 (0.49) | ||
| TPMT | Azathioprine, | *1/*1 | Normal | NA (NA) |
| mercaptopurine, | *1/*3C | IM | 34 (3.36) | |
| thioguanine | ||||
| CYP3A5 | Tacrolimus, | *1/*3 | EM | 46 (4.55) |
| cyclosporine | *3/*3 | IM | 348 (34.39) | |
| *3/*6 | PM | 617 (60.97) | ||
| *3/*6 | PM | 1 (0.10) |
DMET, Drug Metabolizing Enzyme and Transporter; NM, normal metabolizer; EM, extensive metabolizer; UM, ultrarapid metabolizer; RM, rapid metabolizer; IM, intermediate metabolizer; PM, poor metabolizer.
*These pharmacogenes are referred to in the ‘Clinical Pharmacogenetics Implementation Consortium Dosing Guideline’.